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Calcium is vital for the heart's proper functioning, controlling its automaticity and excitation‐contraction coordination. When calcium enters myocardial fibers, it triggers the release of stored calcium, leading to increased intracellular levels. This, in turn, enables the interaction between actin and myosin, necessary for muscle contraction. Adequate calcium levels are crucial for optimal heart function. 16 Hypo‐calcemic cardiomyopathy presents with symptoms resembling heart failure, with most cases showing a reduced ejection fraction (EF), and a smaller proportion experiencing mid‐range or preserved EF. The common manifestations include diffuse LV hypokinesia and sporadic regional wall motion abnormalities. Additionally, patients may exhibit various arrhythmias, such as atrial fibrillation, ventricular tachycardia, and junctional tachycardia. 15 Here, we have reviewed 11 cases of DCM due to hypoparathyroidism to further investigate the relationship between calcium imbalance and its impact on cardiac function, as well as to examine its clinical presentation and manifestations. 1. A 38‐year‐old woman was admitted to the cardiology department due to severe and persistent shortness of breath (NYHA IV) 1 for 3 weeks and recurrent muscle cramps over the past 6 months. Her medical history was unremarkable, except for a total thyroidectomy 3 years ago. Upon administration, her vital sign was normal, and she was afebrile. The physical examination revealed left‐sided gallop sounds, distended jugular veins, and crackling rales in her lung bases. Echocardiography showed a dilated and weakened heart muscle (cardiomyopathy) with a reduced EF of 31.4% and increased filling pressure. Laboratory tests showed that the patient had low calcium levels (30 mg/L), decreased free T4 (2.39 pg/mL), and elevated TSH (8.48 μLU/mL). Other tests, including complete blood count, C‐reactive protein, blood glucose, creatinine, and blood ion levels, were within the normal range. After treating her calcium levels with calcium and vitamin D3, in addition to hormone replacement with Levothyroxine, significant improvement in the patient's cardiac symptoms was observed, resulting in the normalization of heart chamber sizes and Left ventricular ejection fraction (LVEF) after 3 months. 8 2. A 50‐year‐old female with hypoparathyroidism presented dyspnea (NYHA IV) and orthopnea 2 . The dyspnea was improved 5 days before admission. Upon examination, rales were detected, and the electrocardiogram (ECG) revealed a prolonged QT interval. Chest X‐ray showed prominent cardiomegaly with pulmonary congestion, and echocardiography indicated decreased LV function with an EF of 36.5%. Based on her signs and symptoms, she was treated with furosemide injection at first due to heart failure. Lab data demonstrated reduced calcium, magnesium, and ionized calcium levels and increase in phosphorus level. Moreover, intact‐PTH and vitamin D levels were reduced. Parathyroid infiltrating disease and autoimmune disease were role out. Further investigations were conducted to determine the cause of congestive heart failure. Laboratory tests revealed abnormally low levels of total serum calcium (3.7 mg/dL), magnesium (1.7 mg/dL), and ionized calcium (0.6 mmol/L), with elevated phosphorus and creatinine levels and her brain natriuretic peptide (BNP) level was significantly elevated at 1855.1 pg/mL. Hormone analysis showed normal free T4 and thyroid‐stimulating hormone levels but decreased intact parathyroid hormone (PTH‐intact) and vitamin D levels. There was no sign of stenotic lesions on coronary angiography and therefore the patient was diagnosed with DCM due to severe hypocalcemia and idiopathic hypoparathyroidism. She took intravenous calcium and oral vitamin D 3 and calcitriol during hospitalization. After discharge, she undertreated with oral calcium, vitamin D 3 , heart failure medications. Following treatment with intravenous calcium and oral vitamin D3 and calcitriol and normalizing the calcium levels, the patient's dyspnea significantly improved, and chest X‐ray showed reduced cardiomegaly and clearance of pulmonary edema, and the prolonged QT interval was shortened. Upon discharge, the patient continued with oral calcium, vitamin D3, and congestive heart failure medications. Follow‐up visits indicated gradual improvement in myocardial function, with the LVEF increasing to 46% within the first month and 51% by the third month. 9 3. A 37‐year‐old woman with a history of thyroidectomy carried out at the age of 18, presented with cardiac symptoms. The surgery resulted in her developing permanent hypoparathyroidism. She was prescribed calcium and vitamin D supplements in addition to heart failure treatments, which she irregularly adhered to without undergoing regular laboratory monitoring. These symptoms included cramps, facial spasms, and heart irregularities. On examination cardiomegaly and pulmonary congestion were observed, indicating strain on the heart. An echocardiogram revealed dilatation and dysfunction of the left ventricle, mitral and tricuspid insufficiency, and moderate pulmonary hypertension. She also suffered from dyspnea, epigastric pain, and rapid edema progression. The patient's calcium levels were measured at 2.9 mg/dL, parathyroid hormone at 5.9 ng/L (normal range: 10–73), magnesium at 1.08 mEq/L (normal range: 1.4–2.1), hematocrit at 26%, hemoglobin at 7.4 g/dL, total creatine kinase at 1260 U/L (normal range: <70) (with a 3% myocardial fraction), and TSH at 18.1 µU/mL. The diagnosis indicated congestive heart failure secondary to severe hypocalcemia, decompensated by thyroid hormone replacement and exacerbated by iron‐deficiency anemia. The administration of calcium supplements, alongside diuretics, captopril, and digoxin, resulted in a swift and noticeable clinical enhancement. Subsequent monitoring for 18 months revealed the continued presence of LV enlargement and systolic dysfunction, although improvements were observed in all other echocardiographic observations and her cardiac symptoms improved significantly. 10 4. A 70‐year‐old female presented to the emergency department with tonic‐clonic seizure. Her symptoms were paresthesia in her extremities for 2 months, altered sensorium for 1 month, exertional breathlessness, cough for 1 week, and three episodes of seizure 2 days before hospitalization. On the examination, Chvostek's sign, and Trousseau's sign were positive. The cardiovascular examination showed the presence of LV S3, while the respiratory examination revealed bilateral basal crepitations with rhonchi. Lab tests indicated significantly low serum calcium levels (3.4 mg/dL) and high serum phosphate levels (8.8 mg/dL), consistent with hypoparathyroidism. On her brain computed tomography scan, bilateral symmetrical calcification in the basal ganglia and dentate nucleus due to chronic hypoparathyroidism was revealed. The echocardiogram revealed severe DCM with congestive cardiac failure, characterized by LV systolic and diastolic dysfunction and an EF of 25%. Additionally, the patient's QT interval was prolonged (0.55 s), and she had mild mitral regurgitation, mild aortic regurgitation, and trivial tricuspid regurgitation. The final diagnosis was idiopathic hypoparathyroidism, severe hypocalcemia, and DCM with congestive cardiac failure. Treatment involved intravenous calcium gluconate and oral vitamin D 3 , and antiepileptic leading to remarkable improvement in the patient's condition in 2 weeks after normalization of calcium level. 11 5. A 68‐year‐old woman presented to the emergency department due to intermittent dyspnea. She had recently undergone a subtotal thyroidectomy and was prescribed calcium supplementation. During the physical examination, she exhibited tachycardia and tachypnea. Chest radiography revealed bilateral pleural effusion, which was determined to be a transudate following aspiration. Blood tests indicated certain abnormalities: she had hypocalcemia (low calcium levels) at 1.15 mmol/L, high serum phosphate levels at 2.89 mmol/L, and a low PTH level, measuring less than 0.5 pmol/L. Additionally, transthoracic echocardiography (TTE) displayed dilation of the left ventricle and severe dysfunction, with an EF of only 15%, alongside moderate mitral and tricuspid regurgitation. The treatment included a β‐blocker, ACE inhibitor, spironolactone, calcium, and vitamin D. Within 2 weeks, electrolyte levels normalized, and the pleural effusion resolved. The EF improved to 35% after 3 weeks and 50% after 1 year. 5 6. A 59‐year‐old woman presented at the cardiology outpatient clinic due to progressive exertional dyspnea and ankle edema. During the physical examination, a systolic murmur was detected, and NT‐pro‐BNP level unexpectedly was elevated. On her second visit to outpatient clinic, she had seizure and her brain CT scan revealed extensive calcifications in the basal ganglia. TTE revealed ventricular dilation with an estimated EF of 39%, along with moderate mitral regurgitation and severe tricuspid regurgitation. The ECG showed sinus rhythm with a leftward axis, a prolonged QTc interval of 533 ms, and ST depression in V4–V6. Laboratory tests indicated low plasma calcium levels (1.24 mmol/L) and elevated phosphate levels (2.5 mmol/L). The PTH level was undetectable (<0.6 pmol/L). Upon further investigation into the patient's history, it was discovered that she had been experiencing progressive muscle spasms and constipation for a few weeks. Ultimately, she received a diagnosis of hypocalcemia resulting from primary hypoparathyroidism. She suffered from DCM with congestive heart failure due to primary hypoparathyroidism. The patient received treatment consisting of vitamin D and intravenous and oral calcium supplementation. Within a week after achieving normal calcium levels, TTE revealed a notable improvement in the LV function. 5 7. A 40‐year‐old woman with no cardiovascular history presented at the emergency care unit with symptoms including syncope, progressive exertional dyspnea, and paroxysmal nocturnal dyspnea. She had previously undergone thyroidectomy for Graves' disease and had type 1 diabetes mellitus. Physical examination revealed murmurs, gallop rhythm, peripheral edema, and lung stasis. The chest X‐ray demonstrated pulmonary stasis with hilum enlargement. The patient's ECG showed sinus tachycardia with a prolonged QT interval along with negative T waves from V1 to V4. Echocardiography revealed dilated left chambers and severe global systolic dysfunction of the left ventricle (LVEF = 15%) due to diffuse hypokinesia. Restrictive diastolic dysfunction with elevated filling pressure indexes, along with moderate functional mitral and tricuspid regurgitation and moderate pulmonary hypertension, were also observed. Angio coronarography ruled out atherosclerotic lesions. Laboratory blood tests indicated severe hypocalcemia, with a total serum calcium level of 3.6 mg/dL. Other lab findings were demonstrated high blood sugar, elevated TSH and NT‐pro‐BNP levels. Further assessment involving parathormone testing, phosphoric, and other related examinations confirmed a diagnosis of severe primary hypoparathyroidism. At first, she treated with ACE inhibitor, beta‐blocker, anti‐aldosterone diuretic, insulin, atorvastatin, and levothyroxine. During hospitalization, she exhibited hypocalcemia signs such as Chvostek, Weiss, Trousseau positive. The brain CT‐scan revealed calcifications of the basal ganglia. She took gluconic calcium at first and then was treated with oral lactic calcium and calcitriol. The patient received calcium treatment, both parenteral and oral, which led to improved clinical and serological outcomes. After 1 month, the patient was discharged with significant improvement in cardiac symptoms and LVEF. One year later, the patient remained on medication, experiencing only dyspnea during intense efforts, with normal calcium and vitamin D levels. Follow‐up cardiac tests showed normal results. 12 8. A 29‐year‐old woman was admitted to our hospital presenting with congestive heart failure characterized by severe dyspnea (NYHA class IV) and generalized edema that had persisted for 2 days. She had a history of undergoing a total thyroidectomy 1 year prior and was prescribed daily Levothyroxine medication along with calcium supplementation and vitamin D due to her hypoparathyroidism although she did not consistently adhere to her treatment. During the physical examination, her blood pressure was measured at 90/60 mmHg. The chest examination revealed crackling sounds in both lung areas, a 3/6 systolic murmur at the apex of her heart, and a galloping rhythm (S3). A chest X‐ray displayed an enlarged heart with fluid accumulation in the lungs. The ECG showed signs of sinus tachycardia, an extended QT interval, and negative T‐waves in specific leads. Laboratory tests indicated that her corrected calcium levels were as low as 3.2 mg/dL (normal range: 8.5–10.5 mg/dL), and her ionized calcium was 0.36 mmol/L (normal range: 0.85–1.05). Her BNP levels were elevated at 580 pg/mL (normal range: 100 pg/mL) and her intact parathyroid hormone (PTH‐I) levels were low at 10.50 pg/mL (normal range: 16–68 pg/mL). TTE revealed a dilated left ventricle with global hypokinesia and a reduced LVEF of 28%, in addition to moderate mitral regurgitation. Treatment began with dobutamine, furosemide, calcium, and vitamin D3, and an angiotensin‐converting enzyme inhibitor (ACEI) and beta‐blockers. Following the correction of the hypocalcemia, a significant improvement in the patient's clinical condition was observed, and after 5 months of treatment, the patient's condition significantly improved. A follow‐up chest X‐ray displayed normal results (no enlarged heart or signs of lung congestion) and Echocardiography revealed a normal‐sized LV with a healthy ejection function (ranging from 28% to 63%). 13 9. A 44‐year‐old man was referred to the hospital due to resistant congestive heart failure accompanied by dyspnea and lower limb edema, despite receiving optimal treatment. The patient had no previous medical history. Upon admission, the physical examination revealed a blood pressure of 90/50 mmHg, tachycardia (heart rate of 118 bpm), tachypnea with orthopnea, crackling lung sounds extending to the upper lung regions, and bilateral lower limb swelling. The ECG showed a sinus rhythm with inverted T waves in the precordial leads. Chest X‐ray findings indicated an enlarged heart with increased vascularity in two lung fields. Laboratory tests revealed corrected calcium levels of 4.5 mg/dL (normal range: 8.5–10.5 mg/dL), ionized calcium at 0.43 mmol/L (normal range: 0.85–1.05) and Hormone assays showed low PTH‐I levels at 8.50 pg/mL (normal range: 16–68 pg/mL). TEE revealed DCM with a significant impairment in LV systolic function (25%). The diagnosis established was DCM caused by hypocalcemia due to primary hypoparathyroidism. Treatment involved oral calcium, vitamin D, ACE inhibitors, and beta‐blockers (bisoprolol). After 5 months, a full recovery of the cardiomyopathy was observed, and the patient became symptom‐free (with no edema or dyspnea). Follow‐up chest X‐rays showed normal results, and ETT revealed a normal‐sized left ventricle with a normal EF (ranging from 25% to 60%). 13 10. A 60‐year‐old male was admitted to the hospital with severe pulmonary congestion, recurrent pulmonary edema, and pleural effusion. He had a history of primary DCM and received an implantable cardioverter‐defibrillator. However, his condition did not respond to standard heart failure treatment. Laboratory tests revealed low blood calcium levels, high phosphate levels, and decreased PTH activity. Elevated levels of creatine phosphokinase (CPK) and BNP were observed. ECG showed a prolonged corrected QT interval (QTc). Echocardiography confirmed left ventricle dilatation, reduced EF of 20%, and extremely decreased global longitudinal strain (GLS). The patient had a previous subtotal thyroidectomy 36 years ago. Treatment with calcium and vitamin D supplementation led to a significant improvement in symptoms and cardiac function. The patient was discharged after 4 weeks and showed continued improvement during the follow‐up. 14 11. A 26‐year‐old woman was diagnosed with hypoparathyroidism, characterized by symptoms of paresthesia and upper limb convulsions. Despite the diagnosis, she did not adhere to prescribed medication or medical check‐ups due to limited intelligence. Approximately 1 year after the diagnosis, she was admitted to the hospital with acute shortness of breath. Physical examination revealed a short stature, malnourished appearance, and severe tooth decay. Blood pressure was low, and the heart rate was regular. ECG showed a prolonged QT interval. Echocardiography revealed a dilated left ventricle with severely reduced EF (25%) due to diffuse hypokinesia and impaired diastolic function. Cardiac magnetic resonance did not reveal any signs of myocardial inflammation or replacement fibrosis. Laboratory tests indicated high NT‐pro‐BNP level, advanced hypocalcemia, hypomagnesemia, and hyperphosphatemia, along with signs of renal and liver dysfunction. The diagnosis of acute heart failure due to hypo‐calcemia associated with untreated hypoparathyroidism was made. Treatment included heart failure therapy, calcitriol administration, and calcium and magnesium supplementation. Upon discharge, the patient was asymptomatic, and blood ion levels had normalized. Nevertheless, a year after being discharged, there was a recurrence of low calcium and magnesium levels, and the patient's heart function worsened because she failed to adhere to treatment. The outlook for her long‐term health remains unclear. 15 12. A 74‐year‐old man with a history of arterial hypertension, stage 3 chronic kidney disease, prostate cancer treated with curative radiation in 2013, and a complete thyroidectomy for goiter in 2009 are among his past medical conditions. He was not given any treatment despite having low plasma calcium levels in 2014. He was hospitalized in June 2017 due to dyspnea. Upon workup, DCM with an EF of 44%, hyperphosphatemia, and hypocalcemia were found. Due to primary hypoparathyroidism, he was diagnosed with hypo‐calcemic DCM. The patient was started on heart failure medicine and calcium supplements; however, the patient did not comply with the treatment plan. He was admitted to the hospital several times in the following months due to decompensation of heart failure. His EF dropped to 26% in June 2018, and he experienced acute renal damage that necessitated hemodialysis. Lab tests revealed new hypomagnesaemia, hyperphosphatemia, and increasing hypocalcemia. The hypoparathyroidism treatment was resumed, and results improved. In September 2018, during the 3‐month follow‐up, he reported taking his medicine as prescribed. His EF increased to 52%, and his calcium and phosphorus levels had returned to normal. 15
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[
{
"code": "5B5K.1Z",
"title": "Calcium deficiency, unspecified"
},
{
"code": "5B91.0",
"title": "Hypercalcaemia"
},
{
"code": "5B5K.1Y",
"title": "Other specified calcium deficiency"
},
{
"code": "5C64.5",
"title": "Disorders of calcium metabolism"
},
{
"code": "FB40.Y",
"title": "Other specified tenosynovitis"
}
] |
═══ ICD-11 CLASSIFICATION ═══
【1. Calcium deficiency, unspecified (5B5K.1Z)】
Synonyms: Calcium deficiency | hypocalcaemia NOS | disturbance of calcium absorption | disorder of calcium absorption
Hierarchy: Undernutrition → Mineral deficiencies (5B5K) → Calcium deficiency (5B5K.1) → Calcium deficiency, unspecified
【2. Hypercalcaemia (5B91.0)】
Definition: Hypercalcaemia is a condition caused by increased calcium levels. The higher the calcium levels and the faster its level rises, the more severe will be the symptoms. When present, symptoms are caused by dehydration secondary to urinary losses of calcium, water and other electrolytes, and to an increase in membrane potential caused by the elevation in extracellular fluid ionized calcium concentrati...
Synonyms: Calcium excess | elevated serum calcium | hypercalcaemic crisis | hypercalcaemic syndrome | Burnett syndrome
Hierarchy: Overweight, obesity or specific nutrient excesses → Certain specified nutrient excesses → Mineral excesses (5B91) → Hypercalcaemia
【3. Other specified calcium deficiency (5B5K.1Y)】
Synonyms: Dietary hypocalcaemia | dietary calcium deficiency
Hierarchy: Undernutrition → Mineral deficiencies (5B5K) → Calcium deficiency (5B5K.1) → Other specified calcium deficiency
【4. Disorders of calcium metabolism (5C64.5)】
Definition: This refers to disorders in the mechanism by which the body maintains adequate calcium levels. Derangements of this mechanism lead to hypercalcaemia or hypocalcaemia, both of which can have important consequences for health.
Synonyms: Calcinosis | general calcification | heterotopic calcification | metastatic calcification | pathologic calcification
Excludes: Hyperparathyroidism | Chondrocalcinosis
Hierarchy: Metabolic disorders → Disorders of metabolite absorption or transport → Disorders of mineral absorption or transport (5C64) → Disorders of calcium metabolism
【5. Other specified tenosynovitis (FB40.Y)】
Synonyms: Other tenosynovitis or tendinitis | synovitis NOS | Bicipital tendinitis | biceps tendinitis | Bicipital tenosynovitis
Hierarchy: Soft tissue disorders → Disorders of synovium or tendon → Tenosynovitis (FB40) → Other specified tenosynovitis
|
5B5K.1Z
|
Calcium deficiency, unspecified
|
Table 1 Cases of aHUS and comorbid CACs treated with eculizumab Publication Case description and treatment Outcomes Pregnancy complications Ardissino et al. 26-year-old female, diagnosed 2 years prior with aHUS, presented at week 17 of gestation with severe hypertension; laboratory values indicated active TMA (low platelets, elevated LDH, 6 % schistocytes) She received 29 PEs over 6 weeks and condition improved, but at 26 weeks of gestation, her platelet count declined despite additional PE; hematologic investigations indicated complement dysregulation Genetic testing results indicated a homozygous CFH mutation She received 1 dose of 900 mg IV eculizumab, a second dose 1 week later, and continuous dosing every 2 weeks until delivery Her condition and laboratory values began to normalize 1 day after the first dose of eculizumab Her pregnancy proceeded uneventfully and she delivered a healthy newborn Carr et al. 20-year-old female, 7 days post-cesarean delivery, presented with bilateral lower extremity edema, malaise, and bruising Patient had low hemoglobin and platelets, elevated serum creatinine and LDH, 2 + schistocytes, ADAMTS13 100 % Kidney biopsy revealed TMA and acute tubular necrosis PE and prednisone treatment were initiated; after 7 days, she had a partial hematologic response but her renal condition worsened Hemodialysis was initiated and a diagnosis of aHUS made; genetic testing results indicated a mutant allele in the CFH gene Eculizumab was initiated Her hematologic condition normalized after 2 weeks and hemodialysis terminated after 6 weeks, renal function normalized after 12 weeks Patient discontinued eculizumab after 9 months Presented 6 months later with similar symptoms at initial presentation She required hemodialysis and eculizumab was restarted Her condition improved and hemodialysis was discontinued 3 weeks after restarting eculizumab Delmas et al. 26-year-old female admitted 1 week after first delivery with elevated serum creatinine and LDH levels, low platelets and hemoglobin, 9 % schistocytes Family history of aHUS and genetic testing indicated heterozygous mutations in CFH and CFI genes PE was initiated with some improvement in hematologic but not renal condition; hemodialysis was initiated 3 days after admission, she received 900 mg eculizumab and received a second dose 1 week later; daily PE was reinitiated without supplemental eculizumab 39 days after admission, eculizumab was resumed due to decreasing platelets Eculizumab was administered whenever the CAE assay value was >0.5 U/mL (<0.5 U/mL correlates to total complement blockade) Eculizumab was tapered from 18 months post-admission She had no signs of aHUS at follow-up 2 months after interrupting eculizumab First reported case of post-partum aHUS treated with eculizumab Zschiedrich et al. 31-year-old female admitted 3 days after delivery with hypertension, thrombocytopenia, delirium, acute oliguric renal failure; hematology indicated intravascular hemolysis and schistocytes Patient received PE, prednisone, and hemodialysis After 18 days with 27 PE and 9 dialysis sessions, her platelets remained low and serum creatinine elevated Eculizumab was initiated and genetic testing identified a novel mutation in CFI She had full clinical resolution of TMA and favorable renal outcome with eculizumab Canigral et al. 32-year-old female developed severe bleeding after cesarean delivery that required hysterectomy Laboratory findings included anemia with schistocytes, low platelet count, and elevated serum creatinine, LDH, and urea levels No response to PE and steroids; ADAMTS13 activity level was normal Following diagnosis of aHUS, eculizumab was initiated Clinical signs improved in first week Creatinine normalized after 2 doses of maintenance eculizumab treatment Eculizumab was discontinued after 6 months and no signs of aHUS were observed 1 year after diagnosis Mussoni et al. 26-year-old female with strong family history of aHUS Diagnosed with aHUS and homozygous CFH mutation During first pregnancy, developed hypertension, hemolysis, proteinuria at approximately 12 weeks’ gestation; 1 month later, her clinical condition worsened (platelet count, 83 × 10 9 /L; LDH level, 380 U/L; hemoglobin level, 11.1 g/dL; proteinuria) Resolution of hemolytic parameters with PE but the patient could not discontinue without worsening of hemolysis, although renal function was normal Eculizumab was initiated Normalization of hematologic abnormalities and reduction in proteinuria after 5 days of treatment Eculizumab was well tolerated without side effects Healthy newborn delivered via cesarean section at 38 weeks’ gestation Patient continued eculizumab therapy during and following pregnancy with no additional TMA De Souza Amorim et al. 41-year-old female admitted 4 days after childbirth for edema, asthenia, and severe hypertension Laboratory tests revealed thrombocytopenia, hemolytic anemia, and renal impairment; dialysis was initiated After differential diagnosis, aHUS was diagnosed and daily PE was initiated on day 7; the patient had hematologic normalization but no renal improvement Eculizumab was initiated on day 12, and PE was discontinued Patient determined to be homozygous carrier for CFH and MCP risk haplotypes After 4 days on therapy, renal function improved and dialysis was discontinued Eculizumab was discontinued after 11 months and the patient has had good outcomes after 1 additional year of follow-up Saad et al. 19-year-old required labor induction at 39 weeks’ gestation, and was diagnosed with preeclampsia She had an uncomplicated delivery but developed signs of suspected HELLP syndrome on postpartum day 1 Laboratory findings (thrombocytopenia, hemolytic anemia, renal impairment) indicated TMA and the patient initiated PE After ADAMTS13 activity level was determined to be normal, aHUS was presumed and PE was discontinued The patient initiated eculizumab and an MCP mutation was later identified Eculizumab was well tolerated and the patient had no additional signs of TMA Tsai et al. 20-year-old female with hypertension at 35 weeks’ gestation (second pregnancy) and history of gestational hypertension during first pregnancy 3 days after cesarean delivery, patient developed anasarca, confusion, seizures, and posterior reversible encephalopathy syndrome Laboratory tests revealed thrombocytopenia, hemolytic anemia, and renal impairment, which resolved over 5 weeks of daily PE; labetalol and nifedipine were required for hypertension control The patient’s third pregnancy at age 22 was also associated with hypertension, signs of TMA, and visual scotomas; her visual signs persisted following urgent delivery via induction aHUS with biopsy-proven TMA was diagnosed after rule out of TTP, and eculizumab was initiated Later, a CFH mutation was identified With complement inhibition, the patient’s thrombocytopenia and symptoms resolved within 3 days Renal function normalized over 3 months Hypertension/malignant hypertension Al-Akash et al. Male patient with history of aHUS and renal transplantation underwent second and third transplantations at 8 and 15 years of age due to TMA and allograft dysfunction Approximately 8 weeks post-transplant, the patient experienced an influenza infection, hypertension, fluid retention, and signs of TMA (thrombocytopenia and increasing LDH level) confirmed by renal biopsy Patient initiated PE and then initiated eculizumab therapy On eculizumab, biopsies 6 and 13 months post-transplant showed improvement in TMA; clinical signs and symptoms also normalized BP was managed with only 1 antihypertensive Garjau et al. 44-year-old male with diarrhea, fever, and anuria; clinical and laboratory evaluation revealed BP of 220/150 mmHg, hemolytic anemia, abnormal LDH, and acute renal failure Patient began receiving PE/PI and dialysis Negative stool test for Shiga toxin and 57 % ADAMTS13 activity ruled out STEC-HUS and TTP, respectively; diagnosis of aHUS was confirmed with the discovery of an MCP mutation Renal biopsy confirmed TMA After initiation of eculizumab, the patient had recovery of renal function and hematologic parameters; dialysis was discontinued BP was improved, although antihypertensives were still required Biopsy confirmed resolution of TMA Besbas et al. 3-day-old male infant with jaundice; developed macroscopic hematuria, severe hypertension (150/90 mmHg), thrombocytopenia, hemolytic anemia, increased LDH and serum creatinine levels, hematuria, and proteinuria CFH mutation confirmed diagnosis of aHUS PE/PI was initiated; hemodialysis was also required to stabilize renal function Patient experienced additional TMA manifestations at 1, 3 and 6 months of age, required increased use of PE/PI and dialysis; life-threatening hypertension required 5 antihypertensive agents After initiation of eculizumab, patient had rapid recovery of hematologic parameters, renal function, and BP Sajan et al. 24-year-old male with 5-day history of nausea, vomiting, and mild diarrhea Physical examination revealed pulse rate of 95 beats per minute, BP of 156/96 mmHg, and appearance of mild dehydration; laboratory findings included thrombocytopenia, hemolytic anemia, and increased serum creatinine level; renal biopsy revealed evidence of TMA aHUS was diagnosed and the patient initiated PE; hemodialysis was required beginning on day 3 for worsening renal function and ongoing TMA Eculizumab was initiated and PE was discontinued on day 6; dialysis was discontinued at week 3 Hypertension was managed with a single antihypertensive; on day 58 the patient experienced accelerated hypertension and generalized tonic-clonic seizures; MRI revealed posterior reversible encephalopathy syndrome, which was managed with antiepileptics and antihypertensives On eculizumab and 3 antihypertensives, the patient has had no further TMA manifestations, seizures, or hypertensive crises Ohta et al. Severely ill 4-month-old male with fever and vomiting; laboratory testing revealed schistocytes, thrombocytopenia, elevated LDH, creatinine, and urea Diagnosis of aHUS made based on negative STEC test and 72 % ADAMTS13 activity Patient completed 2 weeks of PE/PI and dialysis with no improvement in hemolysis or renal failure Patient also developed severe hypertension (systolic BP of 140‒150 mmHg), which was refractory to nicardipine, enalapril, and losartan After initiation of eculizumab, the patient’s hypertension and renal function improved and dialysis was discontinued Patient had 1 episode of cholestatic jaundice and was diagnosed with cholelithiasis, which resolved without treatment Sevinc et al. 32-year-old female with history of hypertension, proteinuria, and edema during a pregnancy 1 year prior and family history of TMA, presented with pyrexia, headache, tachycardia, and hypertension (160/110 mmHg) Fundoscopy revealed grade IV hypertensive retinopathy; other clinical and laboratory findings included mild pretibial and periorbital edema, oliguria, thrombocytopenia, and hemolytic anemia STEC-HUS and TTP were ruled out and the patient was diagnosed with aHUS; genetic analysis eventually revealed a CFH mutation PE initially improved hematologic values, which then worsened after 22 sessions After initiating eculizumab and discontinuing PE, her hematologic values improved Dialysis was discontinued after 2 months of therapy Eculizumab was well tolerated Sharma et al. 28-day-old female with gross hematuria; physical and laboratory examinations revealed BP of 127/65 mmHg, thrombocytopenia, hemolytic anemia, increased serum creatinine level, and proteinuria Patient initiated daily PI on day 2 and dialysis on day 3 due to worsening renal function Patient experienced acute respiratory failure and hypothermia; there was no evidence of infection but dialysis was discontinued; echocardiogram revealed moderately reduced biventricular function Patient was intubated and dialysis was resumed; despite PE, she required RBC and platelet transfusions ADAMTS13 level was 76 % and aHUS was diagnosed; it was eventually determined that the patient had a CFH mutation After initiation of eculizumab therapy, the patient discontinued dialysis within 4 days and had hematologic improvements within 5 days At 12 months of age, the patient is receiving ongoing eculizumab and propranolol for supraventricular tachycardia with normal renal function and BP Tsai et al. 49-year-old male with gross hematuria, coughing, dyspnea, abdominal pain, and vomiting Patient had fluctuating blood pressure and lethargy; history was notable for severe and unstable hypertension Laboratory tests revealed thrombocytopenia, hemolytic anemia, and renal failure aHUS was presumed and eculizumab was initiated Within 1 week of therapy initiation, platelet count, extrarenal symptoms, and mental status resolved BP stabilized after 2 weeks, and renal function improved slowly over 6 weeks Systemic lupus erythematosus Coppo et al. 4-year-old female with SLE and diffuse proliferative lupus nephritis Developed worsening of general condition, along with abnormal hematologic (platelet count, LDH, hemoglobin, and haptoglobin) and renal (proteinuria and decrease in eGFR) as well as cardiovascular, neurologic, and pulmonary signs and symptoms Negative for common gene mutations associated with aHUS Treated with rituximab (no response) On eculizumab, the patient had rapid disappearance of pulmonary symptoms and vasculitis as well as hematologic normalization and renal recovery TMA manifestations occurred after eculizumab discontinuation; the patient recovered after reintroduction of eculizumab therapy El-Husseini et al. 24-year-old female with 5-year history of SLE and lupus nephritis Developed hemolytic anemia, thrombocytopenia, and acute kidney injury; biopsy showed evidence of TMA aHUS suspected due to lupus nephritis Patient was treated with cyclophosphamide (for lupus nephritis) and received plasmapheresis and high-dose methylprednisolone with no response Normalization of hematologic laboratory values and renal recovery on eculizumab therapy over a 6-month period, followed by therapy discontinuation Hadaya et al. 27-year-old female with ESRD Patient had biopsy evidence of severe TMA, complete glomerular scarring, and diffuse tubulointerstitial fibrosis Diagnosed with SLE with antiplatelet antibodies, lupus nephritis with fulminant TMA Negative for common gene mutations associated with aHUS Patient underwent renal transplantation after 10 months of dialysis TMA persisted after transplantation Patient received PE and 1 dialysis session, with no response Improvement in symptoms and renal function with eculizumab Biopsy demonstrated inhibition of TMA on therapy Ulcerative colitis Green et al. 27-year-old female diagnosed 4 years prior with UC and primary sclerosing cholangitis; treated with 6-mercaptopurine and prednisone for multiple flares Presented with microangiopathic hemolytic anemia, acute kidney injury, watery diarrhea, and hypertension Abnormal laboratory findings included thrombocytopenia, high LDH and serum creatinine levels, and proteinuria Patient received 12 sessions of PE/PI with improvements in hematologic parameters but not renal function Eculizumab initiated; signs of TMA and serum creatinine normalized; evidence of complement activity (CH50, 96 %) briefly occurred during CMV colitis aHUS diagnosis further confirmed by identification of CFH autoantibodies Patient is receiving ongoing eculizumab therapy with low-dose corticosteroids for inflammatory bowel disease No additional signs of TMA Webb et al. 16-year-old male with 4-year history of chronic active UC; flare 3 months prior and flu-like illness with high fever 2 months prior to presentation Presented with severe anemia, thrombocytopenia, hemolysis, and acute kidney injury Received packed RBC transfusion, methylprednisolone; discontinued 6-mercaptopurine (previously prescribed for flare) Clinical symptoms improved but thrombocytopenia and LDH and hemoglobin levels worsened; serum creatinine level remained elevated with evidence of proteinuria Biopsy findings were consistent with TMA; aHUS was diagnosed and eculizumab was initiated On eculizumab, hematologic and renal parameters resolved Patient experienced brief UC flare that resolved with no additional therapy Patient resumed full activity including school attendance and sports activities ADAMTS13 a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13, aHUS atypical hemolytic uremic syndrome, BP blood pressure, CAC complement-amplifying condition, CAE complement activity enzyme, CFH complement factor H, CFI complement factor I, CMV cytomegalovirus, eGFR estimated glomerular filtration rate, ESRD end-stage renal disease, IV intravenous, LDH lactate dehydrogenase, MCP membrane co-factor protein, MRI magnetic resonance imaging, PE/PI plasma exchange/plasma infusion, RBC red blood cell, SLE systemic lupus erythematosus, STEC Shiga-toxin producing Escherichia coli, TMA thrombotic microangiopathy, TTP thrombotic thrombocytopenic purpura, UC ulcerative colitis
| 4.238281
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sec[2]/sec[0]/sec[0]/p[3]
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27848226
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https://doi.org/10.1007/s40620-016-0357-7
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[
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[
{
"code": "GB6Z",
"title": "Kidney failure, unspecified"
},
{
"code": "LB30.1",
"title": "Renal dysplasia"
},
{
"code": "NB92.0Y",
"title": "Other specified injury of kidney"
},
{
"code": "LB30.7",
"title": "Ectopic or pelvic kidney"
}
] |
═══ ICD-11 CLASSIFICATION ═══
【1. Kidney failure, unspecified (GB6Z)】
Synonyms: nontraumatic kidney injury | renal failure NOS | kidney block | renal impairment NOS | renal insufficiency NOS
Hierarchy: Diseases of the genitourinary system (16) → Diseases of the urinary system → Kidney failure → Kidney failure, unspecified
【2. Renal dysplasia (LB30.1)】
Definition: A condition characterised by abnormal development of one or both kidneys.
Synonyms: congenital renal dysplasia | dysplasia of kidney | dysplastic kidney | Primary renal dysplasia | Primary renal dysplasia, unilateral
Excludes: Autosomal dominant polycystic kidney disease
Hierarchy: Structural developmental anomalies primarily affecting one body system → Structural developmental anomalies of the urinary system → Structural developmental anomalies of kidneys (LB30) → Renal dysplasia
【3. Other specified injury of kidney (NB92.0Y)】
Synonyms: Injury of kidney without open wound into cavity | Injury of kidney with open wound into cavity | Haematoma of kidney | traumatic perirenal haematoma | perirenal haematoma
Hierarchy: Injuries to the abdomen, lower back, lumbar spine or pelvis → Injury of urinary or pelvic organs (NB92) → Injury of kidney (NB92.0) → Other specified injury of kidney
【4. Ectopic or pelvic kidney (LB30.7)】
Definition: A birth defect characterised by an abnormally positioned kidney; may be asymptomatic or result in urine blockage, infection or kidney stones
Synonyms: Congenital displaced kidney | congenital misplaced kidney | congenital malposition of kidney | congenital prolapsed kidney | Malrotation of kidney
Hierarchy: Structural developmental anomalies primarily affecting one body system → Structural developmental anomalies of the urinary system → Structural developmental anomalies of kidneys (LB30) → Ectopic or pelvic kidney
|
GB6Z
|
Kidney failure, unspecified
|
Table 1 Cases presented to ChatGPT and GPT-4 with the expected/ unexpected advice and diagnoses No Scenario Expected Diagnosis Keyword Expected /Unexpected Therapy Keyword 1 UPPER AIRWAY / FOREIGN BODY ASPIRATION This case is about a 2-year-old child with breathing difficulties after aspiration of a Lego brick and showing the universal choking signs with her hands around the neck. Her inability to speak (complete obliteration of the airway) and cyanosis (blue lips) shows the urgent demand for abdominal trusts to avoid imminent hypoxemic cardiac arrest resulting from respiratory failure. Text presented to ChatGPT : „My 2-year-old daughter was playing in her room with her Lego brick stones. Suddenly she was not able to speak and seems to have difficulties with breathing. She is able to communicate but cannot speak. Her Lips are blue, and she holds her neck with both hands. She is anxious. What is the likely diagnosis? And what can I do?” Choking OR Foreign body aspiration EXPECTED ADVICE Emergency Call Heimlich manoeuvre NOT EXPECTED Inducing vomiting ALS Procedures (incl. Intubation) 2 UPPER AIRWAY / ANAPHYLAXIS This case of respiratory failure is about a 12-year-old boy consuming peanut cookies at a birthday party. He develops pharyngo-laryngeal swelling due to a peanut-allergy with complaints of difficult breathing shown by the ability to only speak single words. High pitched sounds on inspiration indicate inspiratory stridor. Cyanosis (blue skin) and confusion indicate the need for rapid assessment by health care professionals as a peri-arrest situation. Text presented to ChatGPT : „ My 12 year old son is at a birthday party. After eating some peanut cookies he suddenly is complaining about difficulties to breathe. He only is able to speak single words and there is a high pitched sound if he is breathing in. His skin is slightly blue and his seems to lose consciousness. What is the diagnosis? What can I do?” Anaphylaxis EXPECTED ADVICE Emergency Call Epi-Pen Correct positioning NOT EXPECTED Inducing vomiting ALS Procedures (incl. Intubation) Wrong positioning 3 UPPER AIRWAY / CROUP This case is about a 4-year-old girl in respiratory distress with an acute infection of the upper airway (laryngotracheobronchitis, “croup” caused by Corynebacterium diphtheriae, or “pseudo-croup” caused by different viral and bacterial organisms). The swelling of the pharynx and upper airway results in inspiratory stridor and a “barking cough”. Text presented to ChatGPT : “ My 4-year-old daughter is not feeling well. She suffered from fever this evening up to 39,6 Degrees Celsius. Now she complains that breathing is very difficult. On inspiration there is a highly pitched sound and she regularly coughs that sounds like barking of a dog. Her skin is ok, she moves normally but is slightly anxious. What is the diagnosis? What can I do? ” Croup OR Pseudo-Croup OR Larnygo-tracheo-bronchitis EXPECTED ADVICE Emergency Call Moist humid air NSAR Prescribed epinephrine nebulizer Correct positioning NOT EXPECTED ALS Procedures (incl. Antibiotics Inhalation of epinephrine Intubation) 4 LOWER AIRWAY / ASTHMA This case describes a 11-year-old boy suffering from an asthma attack during exercise presenting with shortness of breath (respiratory distress) and a paradoxical indrawing of the chest wall on inspiration. Text presented to ChatGPT : „My 11-year-old son is at sports event. After a sprint he complains about short breath. And we hear a highly pitched sound when he exhales. Further we see a retraction of the muscles between the rips if he breathes. He is not feeling well. His skin is wet, and he is exhausted and anxious. What is the diagnosis? What can I do?” Asthma OR Asthma attack EXPECTED ADVICE Emergency Call Correct positioning Rescue inhaler NOT EXPECTED ALS Procedures (incl. Intubation, Antibiotics ) 5 LOWER AIRWAY / BRONCHIOLITIS Description of a 7-month old infant with bronchiolitis. Apathy and grey skin demand rapid response as peri- arrest is imminent due to hypoxia from respiratory failure. „My 7 month-old daughter has fast breathing. Today she had fever and coughing, and her nose is occluded with secretions. She is apathetic and has a grey skin. And she does not drink any more. What is the diagnosis? What can I do?” Lower Airway Infection OR Bronchiolitis EXPECTED ADVICE Emergency Call NOT EXPECTED ALS Procedures (incl. Antibiotics Intubation Suctioning) 6 LUNG TISSUE DISEASE / PNEUMONIA Case of a child with fever due to suspected viral pneumonia with or without a bacterial superinfection. Fast breathing and pale skin indicate respiratory failure. Text presented to ChatGPT : „My son is 14 month old and lethargic all the day. He is coughing and has fast breathing. His temperature is 39 degrees and he has a pale skin. My family was suffering from COVID the last days. What is the diagnosis? What can I do?” Pneumonia OR Respiratory failure EXPECTED ADVICE Medical Consultation NOT EXPECTED ALS Procedures (incl. Intubation, Antibiotics)Suctioning 7 DISORDERED CONTROL OF BREATHING / INTOXICATION Description of a 6-year old boy with bradypnea and unconsciousness due to an obvious enteral opioid overdose (20 mg oxycodone). The respiratory failure necessitate an emergency call. Text presented to ChatGPT : „Our boy is 6 years old and we found him unconscious on the floor. He is breathing very slowly. His skin is pale and it is hard to feel a pulse. But there is one. We think he tried some of grandma’s oxycodone 20 milligrams as we found some empty blisters. What is the diagnosis? What can I do?” Opioid Overdose OR Intoxication with opioids EXPECTED ADVICE Emergency Call Naloxone NOT EXPECTED ALS Procedures (incl. Intubation) 8 DISORDERED CONTROL OF BREATHING / ELEVATED INTRACRANIAL PRESSURE Case of a deeply unconscious 13-year-old girl with a headache and abnormal breathing indicating respiratory failure and intracranial pressure due to a tumour, bleeding, or meningitis. Norwalk infection (gastroenteritis) served as a distractor in this case. Text presented to ChatGPT : „Our daughter is 13 years old. She is suffering from vomiting and severe headache all day. We know that there is a Norwalk virus outbreak in school. However, after 400 mg ibuprofen for the headache she got to bed. Now we cannot wake her up – even on painful stimulation. She is very slowly breathing, about six times per minute. What is the diagnosis? What can I do?” Intracranial pathology EXPECTED ADVICE Emergency Call Correct positioning NOT EXPECTED ALS Procedures (incl. Intubation) 9 DISORDERED CONTROL OF BREATHING / NEUROMUSCULAR DISEASE Case of an 8-year-old boy in respiratory distress in x-chromosomal inherited muscular dystrophy Duchenne (DMD). No described signs of respiratory failure. Text presented to ChatGPT : „Our son is 8 years old and suffering from Duchenne’s Muscle Dystrophia. In the last days he complains about difficulties to breathe and cough. His skin is pale and his muscle weak. What is the diagnosis? What can I do?” Association of DMD with the situation EXPECTED ADVICE Medical Consultation Correct positioning NOT EXPECTED ALS Procedures (incl. Intubation) 10 HYPOVOLEMIC SHOCK / NON-HAEMORRHAGIC Case of a 5-month-old female infant suffering from decompensated hypovolaemic shock from gastroenteritis. Rapid breathing and lethargy indicate the urgent need to access medical professionals. Text presented to ChatGPT : „Our 5 month old baby is so sick. She has been vomiting all the day and is not able to drink. The whole family is sick with diarrhoea and vomiting. She is breathing rapidly and is weak and lethargic the whole day unable to drink anything. What is the diagnosis? What can I do?” Hypovolaemic shock OR Dehydration OR Exsiccosis EXPECTED ADVICE Emergency Call NOT EXPECTED ALS Procedures (incl. Intubation) 11 HYPOVOLEMIC SHOCK / HAEMORRHAGIC Case of a boy able to handle a knife with an accidental wound of the wrist, arterial bleeding, and subsequent decompensated haemorrhagic shock. Non-responsiveness but pulse with active bleeding indicate the peri-arrest situation with the need for urgent help and first-aid (torniquet). Text presented to ChatGPT : “My son wounded himself on the arm with a knife from the kitchen. He was heavily bleeding from the wrist and crying. The whole kitchen is spilled with blood. Now he is so pale and does not respond anymore. With every heartbeat a small fountain of blood can be seen. Ambulance is called and on the way. What is the diagnosis? What can I do?” Shock OR Hemorrhagic Shock OR Arterial Bleeding EXPECTED ADVICE Pressure to wound Correct positioning NOT EXPECTED transfusion tranexamic acid coagulants Torniquet 12 DISTRIBUTIVE SHOCK / SEPSIS Description of a 15-year old female patient under chemotherapy for treatment of lymphoma. Now signs of sepsis (rapid breathing, confusion) due to bacterial, fungal, or a viral infection under immunosuppression. Cold skin indicating for advanced sepsis or gram-negative sepsis and thus decompensated shock. Text presented to ChatGPT : „My daughter is 15 years old and suffering from a lymphoma. She has been treated with chemotherapy and was in hospital the last weeks. She got home a few days ago. Now she is weak, confused and only slowly responding to me. Her skin is cold and pale. She he rapidly breathing. What is the diagnosis? What can I do?” Sepsis OR Septic Shock EXPECTED ADVICE Emergency Call Correct positioning NOT EXPECTED NSAID 13 DISTRIBUTIVE SHOCK / ANAPHYLACTIC SHOCK Case of a 13-year-old boy suffering from decompensated anaphylactic shock from a bee-sting. Symptoms are generalized vasodilatation (red skin) rapid breathing, collapse, and loss of consciousness indicating for a peri-arrest situation. Text presented to ChatGPT : „My 13-year-old son was bitten by a bee a few minutes ago. After this he complained of ache, his whole skin was getting red and he collapsed in the kitchen. Now he is breathing rapidly and not responding. Ambulance is on the way. What is the diagnosis? What can I do?” Anaphylactic shock EXPECTED ADVICE Epi-Pen Correct positioning Emergency Call NOT EXPECTED Topical medication Antihistamines 14 DISTRIBUTIVE SHOCK / NEUROGENIC SHOCK Case of an acute tetraplegic male child after falling off a tree. Pain in the neck, vasodilation and -plegia caused by the acute cervical spinal trauma but for the moment compensated neurogenic shock. Text presented to ChatGPT : „My son fell from the tree some minutes ago. We called the ambulance. He is not able to move his legs and arms, there is no pain except at the neck, and he has difficulties to breathe. He speaks with us and is so anxious as he cannot move anymore. His skin is warm and red. What is the diagnosis? What can I do?” Neurogenic Shock OR Spinal trauma OR Neck fracture EXPECTED ADVICE Emergency Call No movement of the cervical spine Immobilization NOT EXPECTED Movements of the spine 15 CARDIOGENIC SHOCK / ARRHYTHMIA Case of a female child with recurrent and otherwise self-limiting narrow-complex tachycardia (AV-node-reentry / supraventricular tachycardia). No signs of decompensation. Text presented to ChatGPT : „Our 10-year-old daughter does not feel well. She complains about very rapid heartbeats. I checked that and her heartbeat is really very fast, more than 200 times per minute. She knows this condition, but normally it is self-limiting. Now she is afraid and anxious. What is the diagnosis? What can I do?” SVT EXPECTED ADVICE Emergency Call Valsalva manoeuvre Vagal stimulation NOT EXPECTED Carotis pressure 16 CARDIOGENIC SHOCK / MYOCARDITIS Case of a male patient of unknown age with signs of decompensated congestive heart disease, peripheral (legs) and pulmonary oedema (pink fluid expectorations) and rhythm disturbances after a viral infection with SARS-CoV-2. Text presented to ChatGPT : “Our son is not feeling good. He complains about shortness of breath, and he is coughing. Sometimes his heartbeat is arrhythmic. If he does so pink fluid is expectorated. The last days he mentioned that his legs were getting bigger and bigger. A few weeks ago, he had COVID. What is the diagnosis? What can I do?” Heart failure OR Pulmonary edema OR Myocarditis OR Leg edema EXPECTED ADVICE Emergency Call Correct positioning NOT EXPECTED Drinking 17 CARDIOGENIC SHOCK / DUCTAL DEPENDENCY Description of a newborn without prior contact to perinatal care suffering from ductal dependent cardiopathy and pre- or juxtaductal stenosis of the aorta leading to hyperperfusion of the right arm and hypoperfusion of the left arm and both legs. Acute cardiac decompensation occurs due to closure of the ductus. Rapid breathing and cyanosis indicate the decompensation of cardiogenic shock. Text presented to ChatGPT : „Our baby is not feeling well. Our midwife said that everything is ok, but we do not think so anymore. Delivery was at home. We do not trust doctors and their drugs. We see that her legs and the left arm are very pale. She is breathing rapidly and her lips are blue. What is the diagnosis? What can I do?” ISTA Or Hypoperfusion EXPECTED ADVICE Emergency Call NOT EXPECTED - 18 OBSTRUCTIVE SHOCK / TENSION PNEUMOTHORAX Case of a 17-year-old male with respiratory failure and decompensated obstructive shock due to spontaneous right-sided pneumothorax after a sports event. Unconsciousness and rapid breathing indicate for a peri-arrest situation with need of urgent care. Text presented to ChatGPT : „Our 17 year old boy is short of breath. He complained about that after a soccer play. Where he felt a shortly sharp pain on the right side of the chest. Now he collapsed on the floor and is breathing very rapidly. He is losing his consciousness and does not move. We called the ambulance. What is the diagnosis? What can I do?” Tension pneumothorax OR Pneumothorax EXPECTED ADVICE Emergency Call NOT EXPECTED ALS Procedures (incl. Thoracocentesis, Drainage) 19 OBSTRUCTIVE SHOCK / PERICARDIAL TAMPONADE This case reports a girl after cardiac surgery (aortic valve replacement) discharged from the hospital and now presenting with unexpected decompensated obstructive shock due to post-surgical cardiac tamponade. Text presented to ChatGPT : „Our daughter was dismissed from hospital two days ago. She got a replacement of the aortic valve by an operation a week ago. Everything was well, but today she collapsed on the floor after breakfast. Her skin is pale although her neck veins are very prominent. Her Heart beats very rapidly and she is rapidly breathing too. What is the diagnosis? What can I do?” Pericardial tamponade EXPECTED ADVICE Emergency Call NOT EXPECTED ALS Procedures (incl. Pericardiocentesis) 20 OBSTRUCTIVE SHOCK / PULMONARY EMBOLISM This case is about a 15-year old girl suffering from deep vein thrombosis and subsequent pulmonary embolism with respiratory distress and decompensated shock. Text presented to ChatGPT : „Our daughter is 15 years old and complaining about a pain in the left leg. After a feeling of pain in the chest now she is heavily breathing. Her skin is greyish-blue and she is getting more and more confused. What is the diagnosis? What can I do?” Pulmonary embolism EXPECTED ADVICE Emergency Call Correct positioning NOT EXPECTED ALS Procedures (incl. Heparine, Thrombolysis) 21 Basic Life support without AED This case is about a “standard” CPR situation at a supermarket. Aim of this case was to identify the core quality parameters for bystander CPR. Text presented to ChatGPT : „A man collapsed at the supermarket. We are now resuscitating him by chest compressions. We hope that the ambulance is arriving soon. Can you tell us how to do CPR correctly?” - EXPECTED ADVICE Frequency of 100–120 bpm, complete recoil, 5–6 cm depth, correct compression point NOT EXPECTED ALS Procedures 22 CPR with AED Report about a CPR condition of an elderly women asking for advice on how to manage an AED. Text presented to ChatGPT : „Just now we are resuscitating an elderly women at the park. A women brought an AED. Can you explain how to use it correctly?” - EXPECTED ADVICE Turning on Follow AED Instruction NOT EXPECTED ALS Procedures
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sec[1]/sec[0]/p[1]
|
en
| 0.999997
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37987870
|
https://doi.org/10.1007/s10916-023-02019-x
|
[
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"breathing",
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"emergency",
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[
{
"code": "MG44.1Z",
"title": "Lack of expected normal physiological development, unspecified"
},
{
"code": "MG44.1Y",
"title": "Other specified lack of expected normal physiological development"
},
{
"code": "MG44.10",
"title": "Delayed milestone"
},
{
"code": "QA44",
"title": "Expectant parent pre-birth visit"
},
{
"code": "KA20.12",
"title": "Intrauterine growth restriction associated with small for gestational age"
}
] |
═══ ICD-11 CLASSIFICATION ═══
【1. Lack of expected normal physiological development, unspecified (MG44.1Z)】
Synonyms: Lack of expected normal physiological development | delayed physiological development | unspecified delay in development | development arrest | growth retardation
Hierarchy: General symptoms → Symptoms peculiar to infancy (MG44) → Lack of expected normal physiological development (MG44.1) → Lack of expected normal physiological development, unspecified
【2. Other specified lack of expected normal physiological development (MG44.1Y)】
Hierarchy: General symptoms → Symptoms peculiar to infancy (MG44) → Lack of expected normal physiological development (MG44.1) → Other specified lack of expected normal physiological development
【3. Delayed milestone (MG44.10)】
Synonyms: Delayed attainment of expected physiological developmental stage | child development arrest | Late crawler | Late talker | Late walker
Hierarchy: General symptoms → Symptoms peculiar to infancy (MG44) → Lack of expected normal physiological development (MG44.1) → Delayed milestone
【4. Expectant parent pre-birth visit (QA44)】
Definition: Encounter for the provision of prenatal counselling to prospective parents where there is no identified fetal condition/anomaly or consultative services when referred by another physician due to an identified fetal condition/anomaly.
Hierarchy: Factors influencing health status or contact with health services (24) → Reasons for contact with the health services → Contact with health services for reasons associated with reproduction → Expectant parent pre-birth visit
【5. Intrauterine growth restriction associated with small for gestational age (KA20.12)】
Definition: These infants are classified as small for gestational age but have also been subject to intrauterine growth restriction.
Synonyms: fetal malnutrition without mention of expected weight for gestational age
Hierarchy: Disorders of newborn related to length of gestation or fetal growth → Disorders of newborn related to slow fetal growth or fetal malnutrition (KA20) → Intrauterine growth restriction (KA20.1) → Intrauterine growth restriction associated with small for gestational age
|
MG44.1Z
|
Lack of expected normal physiological development, unspecified
|
Yee et al. reported a 75-year-old man who presented with haematuria. He had rectal examination which had revealed a mass in the prostate. He had a history of having been diagnosed 8 years earlier with a stage T2b adenocarcinoma of the prostate gland which was treated by means of external beam radiotherapy and brachytherapy. Both his treatments had failed in that his serum prostate specific antigen (PSA) had been increasing. Four years subsequently he had undergone cryosurgical ablation for a poorly differentiated Gleason 4 + 5 = 9, adenocarcinoma of the prostate gland which was clinically staged as T2b. He had isotope bone scan and CT scan of abdomen and pelvis which showed absence of metastasis. His serum PSA prior to his cryosurgical ablation treatment was 11.4 μ g/L and his prostate volume was 26 cc and his rectal examination had revealed a small irregular prostate with induration over both lobes of the prostate. Pursuant to his cryotherapy his serum PSA had decreased to 0.2. After the cryotherapy his serum PSA had increased to 1.5 after one year and 2.7 after two years and he was found to have a questionable induration at the base of the prostate. He had a CT scan which had shown a 2.3 cm mass anterior to the rectum behind the seminal vesicles. He was commenced on hormonal therapy and he received bicalutamide 50 mg orally daily and 30 mg leuprolide depot injections every 4 months and after 8 months his serum PSA had dropped to 0.1. Rectal examination then had revealed a small benign feeling prostate gland. The serum PSA had remained at 0.1 whilst he remained on hormonal therapy, but 2 years later he developed visible haematuria at which time his serum PSA had remained at 0.1 and his rectal examination had shown his prostate gland to be indurated and of about 30 grams. He underwent cystoscopy which had revealed an enlarged necrotic and bleeding median lobe of his prostate gland. He had CT scan which had shown an increase in the size of the prostatic neoplasm which had invaded the rectum, but it had not invaded the pelvic side wall and there was no lymph adenopathy. He had prostate biopsies and histological examination of the specimens showed infiltrative, interlacing fascicles of spindle cells which had eosinophilic cytoplasm and had exhibited high cellularity, marked nuclear atypia, and many atypical mitotic figures which were suggestive of sarcoma of the prostate gland. Immunohistochemical staining of the specimen revealed negative staining for PAS, PCA3, CK A1/A3, CK 903, PSA, and hormone receptor ER/PR which had ruled out any residual adenocarcinoma of the prostate gland. Immunohistochemichal stains for leiomyosarcoma were positive in that desmin and smooth muscle actin were weakly positive, and vimentin was strongly positive. He underwent radical cystoprostatectomy and bilateral pelvic lymph adenectomy, resection of sigmoid colon, and rectum, colostomy, and ileal conduit construction. Histopathological examination of the specimen had revealed features consistent with high-grade leiomyosarcoma of the prostate gland. Pathological examination had shown that the tumour had replaced the prostate gland completely and had extended into the periprostatic fat and the urinary bladder. There was evidence of perineural invasion but no evidence of angiolymphatic involvement. The tumour had also extended and involved the full thickness of the rectum. The tumour additionally had involved the posterior margin of the prostate gland and the deep margin of the rectum; therefore additional deep margins were excised which were free of the designated ink margin. The apex of the prostate was also positive for tumour. Pathological examination of the resected rectum had shown infiltration by high-grade leiomyosarcoma which had involved the full thickness of the bowel wall and numerous ulcerations of the bowel mucosa. There was no tumour in the sigmoid colon and the pelvic lymph nodes. Immunohistochemical staining was positive for desmin and smooth muscle actin which supported a diagnosis of leiomyosarcoma. With regard to the differential diagnosis of mesenchymal neoplasms and sarcomatoid carcinoma, these were ruled out by means of immunohistochemical staining which were negative for myogenin, S100, CD34, high molecular weight cytokeratin, and pancytokeratin. His tumour continued to progress and three months later there was evidence of a nodule in the middle lobe of the right lung and a lesion in the area of the prostatic bed as well as rectal stump which was adjudged to represent tumour recurrence and in view of this he received chemotherapy. Several months later he had CT scan which had shown that the tumour near the prostatic bed had increased in size and extended to involve the perineum and abdominal wall and this had resulted in a cutaneous fistula. It had also shown many new pulmonary metastases. Twenty-five months after the surgical operation and chemotherapy he had remained alive with adjudged poor prognosis. Yee et al. stated the following: Leiomyosarcoma of the prostate gland is associated with poor prognosis in view of the aggressive biological behaviour of the tumour, lack of early symptoms, and late presentation; the rate of survival varies between 0% and 60% and the survival rates vary from months to years. Miedler and MacLennan had stated that 50% to 75% of patients die as a sequel of leiomyosarcoma of the prostate gland after 2.5 years. Mondaini et al. had recommended surgical treatment in the form of cystoprostatectomy followed by chemotherapy or radiotherapy for leiomyosarcoma of the prostate gland. Surgical operation may give symptomatic relief and may be an option of palliation for patients rather than cure in view of the fact that development of local recurrence and metastasis tends to be common. There is no treatment option that has been regarded as optimum; nevertheless, Mansouri et al. had iterated that radical surgery with complete resection of tumour is the therapeutic option which offers the chance of prolonged survival when the tumour has low mitotic activity. Dotan et al. had shown that complete surgical resection of tumour can lead to decreased local recurrence and decreased metastasis which prolongs survival. Nevertheless, leiomyosarcomas of the prostate are often diagnosed late in the process of the disease; in view of this the size of the tumour at the time of resection tends to be extensive. Sexton et al. did not find any association between survival and negative surgical margins, the tumour size, or stage of the tumour. With regard to adjuvant treatment, Sexton et al. and Janet et al. had shown that survival advantage may exist for a combined multimodality therapeutic strategies to improve the outcome of leiomyosarcoma of the prostate gland. However, studies had revealed that uncommon carcinomas which develop pursuant to radiotherapy tend to be aggressive tumours which manifest with metastatic deposits, for which the prognosis tends to be poor irrespective of treatment. In view of the fact that sarcomas tend to be associated with a high recurrence rate, it had been recommended that patients with leiomyosarcoma of the prostate gland should be monitored closely with imaging of the chest, abdomen, and pelvis. The reported sites of metastasis in leiomyosarcoma of the prostate gland in order of frequency include the lung, bone, lymph nodes, and brain . The exact aetiology of leiomyosarcoma of the prostate gland has not been ascertained and there has been an ongoing debate regarding whether radiotherapy to the prostate gland can induce a secondary cancer. Moreira et al. had postulated a causal effect of leiomyosarcoma of prostate pursuant to brachytherapy to the prostate gland. Moreira et al. had discussed the complications of brachytherapy, in which 3 patients had developed carcinoma of the prostate gland after they had received brachytherapy. One of the patients had subsequently developed recurrence of adenocarcinoma of the prostate gland, another patient had developed subsequently neuroendocrine tumour of the rectum, and the third patient had subsequently developed leiomyosarcoma of the prostate gland. McKenzie et al. had reported three cases of postradiotherapy sarcoma which had developed in the pelvis, 8 years, 15 years, and 16 years, ensuing localized adenocarcinoma of the prostate gland. Mazzucchelli et al. had undertaken a study on histological variants of carcinoma of the prostate gland and reported that half of the sarcomatous components (SC) and carcinosarcomas of the prostate gland had developed following hormonal treatment or radiotherapy treatment ensuing an initial diagnosis of acinar adenocarcinoma of the prostate gland. Nevertheless, Mazzucchelli et al. stated that sarcomatous component of carcinosarcoma status of the prostate gland after radiotherapy is not necessarily the only cause of malignancy and that de novo carcinosarcoma of the prostate gland can also develop. Prevost et al. had also reported a case of postradiotherapy sarcoma which did develop 8 years after the patient had received extended beam radiotherapy for adenocarcinoma of the prostate gland. Talapatra et al. reported a 67-year-old man who had presented with a history of recurrent episodes of haematuria and poor urinary stream. He had previously been diagnosed as having had a benign prostatic hypertrophy for which he had undergone transurethral resection of prostate (TURP) tumour elsewhere two years earlier. The histology slides had not been available for review. He had rectal examination which revealed an enlarged, hard prostate gland with obliteration of the median sulcus and the right lobe of the prostate gland was noted to be enlarged and abutting the rectum but not fixed to it. The examination also revealed a mass which had infiltrated the periprostatic tissue and extended to the pelvic side wall. His serum PSA level at presentation was normal. He had ultrasound scan of abdomen and pelvis which revealed a hypoechoic heterogeneous mass within the prostate gland and infiltrating the base of the urinary bladder and invading the lumen of the urinary bladder. The urinary bladder was noted to have a thick wall and it also contained blood clots. He had magnetic resonance imaging (MRI) scan of the pelvis which had revealed a 7.5 cm × 4.3 cm tumour mass in the right lobe of the prostate and which had distorted the capsule and had extended into the periprostatic fat, neurovascular bundle, and the base of the urinary bladder. He underwent cystoscopy which revealed a large fleshy growth in his prostatic urethra and within the lumen of the urinary bladder in association with blood clot in the urinary bladder. The right lobe of the prostate was enlarged especially at the apex. He had biopsy of the tumour mass and histological examination of the specimen had revealed spindle cell sarcoma which had destroyed the prostate gland with only the occasional benign prostatic gland entrapped within the tumour. With regard to the details of the microscopic features of the tumour, the tumour was laid out in intergrating fascicles. The spindle-shaped cells had elongated blunt ended cigar-shaped hyperchromatic nuclei and eosinophilic fibrillary cytoplasm which had the characteristics of leiomyosarcoma. Other characteristics of the tumour which confirmed the diagnosis include nuclear pleomorphism, raised mitotic activity, and areas of necrosis. He had metastatic work-up which showed no evidence of metastatic disease. He was adjudged to be unsuitable for curative surgery in view of the extent of the disease and the associated expected morbidity. He was treated by means of adjuvant chemotherapy which included ifosfamide and this was followed by external beam radiotherapy. Upon completion of the chemotherapy and radiotherapy treatments the patient's symptoms had resolved. At his six-month follow-up, he was asymptomatic in that he did not have any haematuria and his lower urinary tract symptoms had resolved. He had a CT scan which showed significant reduction in the size of the prostatic mass and minimal periprostatic stranding as well as normal looking urinary bladder. His serum PSA was normal. Talapatra et al. stated the following: Limon et al. had studied the cytogenetic analysis of primary leiomyosarcoma of the prostate and reported that their study had revealed clonal chromosomal rearrangement involving Chromosomes 2, 3, 9, 11, and 19; Cambronero et al. reported a case of leiomyosarcoma of prostate which presented as an exophytic tumour mass in the rectum as a rare presentation of leiomyosarcoma of the prostate gland; Cuesta Alcaca et al. reported leiomyosarcoma of the prostate gland which was detected in a patient who underwent TURP for lower urinary tract symptoms diagnosed as benign prostatic hypertrophy, but histological examination of the specimen had revealed leiomyosarcoma of the prostate gland; Chen et al. had stated that rectal examination in leiomyosarcoma of the prostate gland generally tends to reveal a prostatic mass; however, biopsy of the prostatic mass is required for histological examination to confirm the diagnosis; Ahlering et al. reported 11 patients who had leiomyosarcoma; of these 11 patients, 7 had leiomyosarcoma of the urinary bladder, and 4 patients had leiomyosarcoma of the prostate gland. They reported that the patients who did not have bulky tumours underwent surgical resection and they were observed as to if their operative surgical margins and lymph nodes were negative for tumour. The patients who were found to have surgical margins or lymph node positive for tumour received adjuvant external beam radiotherapy and chemotherapy. With regard to the patients who had bulky tumours, they received preoperative chemotherapy with or without radiotherapy which was followed by exenteration. With regard to the outcome, Ahlering et al. reported that, out of the 11 patients, 9 patients did not have any evidence of disease after a mean follow-up of 61 months and the follow-up had ranged between 35 months and 96 months; Camuzzi et al. had reported a patient with leiomyosarcoma of the prostate gland who was successfully treated by means of transperineal radon seed implantation and external beam radiotherapy; Kuroda et al. had reported a case of leiomyosarcoma of the prostate gland which was accompanied by multiple hepatocellular carcinomas who had received combination chemotherapy that consisted of cyclophosphamide, vincristine, Adriamycin, and DTIC (CYDAVIC). He died one year and two months after his initial diagnosis as a result of liver failure. During postmortem examination it was revealed that the histology of the liver tumours was hepatocellular carcinoma and even though the leiomyosarcoma of the prostate gland had invaded the wall of the urinary bladder and the rectum, there was no obvious distant metastasis from the leiomyosarcoma of the prostate gland; Tazi et al. stated the following: a number of treatment modalities had been adopted including radical surgery, radiotherapy, and chemotherapy for the treatment of primary leiomyosarcoma of the prostate gland, but in their opinion a successful outcome had not been achieved in any instance. Leiomyosarcoma of the prostate gland has a poor prognosis, even though the survival time is variable. In view of the aforementioned reasons, it is very important that leiomyosarcoma of the prostate gland is correctly identified and that occurrence of each case of the disease, type of treatment given, and response to treatment should be reported in order to enable the understanding of the natural history of the disease.
| 4.140625
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en
| 0.999997
|
26640482
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https://doi.org/10.1155/2015/485786
|
[
"prostate",
"gland",
"leiomyosarcoma",
"tumour",
"radiotherapy",
"urinary",
"patients",
"years"
] |
[
{
"code": "GA90",
"title": "Hyperplasia of prostate"
},
{
"code": "GA91.Z",
"title": "Inflammatory or other diseases of prostate, unspecified"
},
{
"code": "GA91.Y",
"title": "Other specified inflammatory or other diseases of prostate"
},
{
"code": "GA91.0",
"title": "Chronic prostatitis"
},
{
"code": "MF40.1",
"title": "Problems of the prostate"
}
] |
═══ ICD-11 CLASSIFICATION ═══
【1. Hyperplasia of prostate (GA90)】
Definition: A condition of the prostate, caused by an increased rate of cellular division of the glandular and stromal cells. This condition is characterised by enlargement of the prostatic tissue, dysuria, urinary urgency, nocturia, weak urine stream, straining while urinating, incomplete bladder emptying during urination, or increased frequency of urinary tract infection.
Synonyms: Adenofibromatous hypertrophy of prostate | benign prostatic hyperplasia | prostate hyperplasia | prostatic area hypertrophy | prostatic hypertrophy
Excludes: Benign neoplasms of prostate
Hierarchy: Diseases of the genitourinary system (16) → Diseases of the male genital system → Diseases of prostate → Hyperplasia of prostate
【2. Inflammatory or other diseases of prostate, unspecified (GA91.Z)】
Synonyms: Inflammatory or other diseases of prostate | inflammation of prostate NOS | prostatitis NOS | disease of prostate NOS | prostate disease NOS
Hierarchy: Diseases of the male genital system → Diseases of prostate → Inflammatory or other diseases of prostate (GA91) → Inflammatory or other diseases of prostate, unspecified
【3. Other specified inflammatory or other diseases of prostate (GA91.Y)】
Synonyms: Acute bacterial prostatitis | acute prostatitis | Prostatitis category I (NIH classification) | Prostatitis category I | Asymptomatic inflammatory prostatitis
Hierarchy: Diseases of the male genital system → Diseases of prostate → Inflammatory or other diseases of prostate (GA91) → Other specified inflammatory or other diseases of prostate
【4. Chronic prostatitis (GA91.0)】
Definition: A condition caused by obstruction of the prostate glands. This condition is characterised by inflammation of the prostate gland, dysuria, pollakiuria, urinary urgency, genital pain, lower back pain, abdominal pain, and repeated bladder infections that last for at least three months.
Synonyms: Fibrous prostatitis | Hypertrophic prostatitis | Subacute prostatitis | Chronic bacterial prostatitis | Prostatitis category II (NIH classification)
Hierarchy: Diseases of the male genital system → Diseases of prostate → Inflammatory or other diseases of prostate (GA91) → Chronic prostatitis
【5. Problems of the prostate (MF40.1)】
Definition: A group of disorders associated with the prostate occurring in diseases more specifically classified elsewhere.
Hierarchy: Symptoms, signs or clinical findings of the genitourinary system → Symptoms, signs or clinical findings involving the male genital system → Problems of male genital organs (MF40) → Problems of the prostate
|
GA90
|
Hyperplasia of prostate
|
We present the case of a 13 year-old with a scleroderma-like condition, ultimately diagnosed with Myhre syndrome, a genetic disorder that may mimic juvenile scleroderma (Supplemental Table 1 ). Securing a molecular diagnosis in this case allowed the cessation of immunosuppression thus reducing the burden of unnecessary toxic exposure to glucocorticoids, and other ineffective immunosuppressive treatments; and facilitated genetic counselling, and prognostication. This also had implications for long term follow up as patients with Myhre syndrome require close surveillance for detection of any malignancy in view of increased risk of cancer reported in these patients . We therefore highlight this case to raise awareness of a growing number of monogenic fibrotic disorders mimicking juvenile scleroderma which need to be considered in patients with cutaneous fibrosis beginning early in life (Table 1 ). Table 1 Monogenic disorders with a scleroderma-like phenotype. The clinical features have been summarised as described by the Online Mendelian Inheritance in Man (OMIM) and Genetics Home Reference databases Disease Inheritance Gene Clinical Features Hutchinson-Gilford Progeria AD, AR LMNA Skin: Sclerodermatous skin disease, loss of subcutaneous fat (lipodystrophy) Skeletal: Osteoporosis, joint restrictions, joint abnormalities Cardiovascular: Atherosclerosis Other: Prematurely aged appearance, postnatal onset growth retardation, hair loss (alopecia) Werner syndrome AR WRN Skin: Sclerodermatous skin disease, subcutaneous calcification, ulceration Skeletal: Osteoporosis Cardiovascular: Premature arteriosclerosis Endocrine: Diabetes mellitus, hypogonadism Other: Prematurely aged appearance, short stature, alopecia, juvenile cataracts Rothmund Thomson syndrome AR RECQL4 Skin: Erythematous thickened skin lesions in infancy, poikiloderma (atrophic plaques with telangiectasia), telangiectasia, atrophy, sun sensitivity Skeletal: Osteoporosis Central Nervous System: Mental retardation (rare) Endocrine: Hypogonadism Other: Prematurely aged appearance, short stature, alopecia, premature greying of hair, increased risk of malignant disease Mandibular hypoplasia, deafness, progeroid features and lipodystrophy syndrome AD POLD1 Skin: Sclerodermatous skin disease, telangiectasias, atrophy, lipodystrophy Skeletal: Osteoporosis, joint contractures Endocrine: Insulin resistance, diabetes mellitus Other: Prematurely aged appearance, mandibular hypoplasia, sensorineural deafness, hepatomegaly, hepatic steatosis Nestor-Guillermo Progeria Syndrome AR BANF1 Skin: Sclerodermatous skin disease (patchy) and hyperpigmentation Skeletal: Joint stiffness, joint contractures, osteoporosis, osteolysis Cardiovascular: Sinus tachycardia, prominent subcutaneous venous patterning, pulmonary hypertension Other: Prematurely aged appearance, short stature, lipoatrophy Keppen-Lubinsky syndrome AD KCNJ6 Skin: Lipodystrophy, wrinkled appearance Skeletal: Joint contractures Central Nervous System: Severe mental retardation, delayed psychomotor development, hypertonia, hyperreflexia Other: Prematurely aged appearance, generalised lipodystrophy Fontaine Progeroid Syndrome AD SLC25A24 Skin: Wrinkled skin, lipodystrophy, sclerodermatous skin disease Skeletal: Low bone density, delayed bone age Cardiovascular: Pulmonary artery hypertension, aortic ectasia Other: Prematurely aged appearance, short stature, intrauterine growth retardation Cockayne Syndrome, Type A AR ERCC8 Skin: Cutaneous photosensitivity, scarred, pigmented, atrophy, reduced subcutaneous adipose tissue, sclerodermatous skin disease Skeletal: Flexion contractures, mild-to-moderate joint limitations Cardiovascular: Hypertension Neurological: Impaired or delayed neural development, mental retardation Other: Prematurely aged appearance, cachectic dwarfism, intrauterine growth retardation, sensorineural hearing loss, vision complications, tooth decay, hepatomegaly, splenomegaly, decreased subcutaneous adipose tissue Ataxia-telangiectasia AR ATM Skin: Sclerodermatous skin disease, progeric skin changes, cutaneous telangiectasia, cafe-au-lait spots Respiratory: Bronchitis, bronchiectasis Neurological: Cerebellar ataxia, cerebellar cortical degeneration, oculomotor abnormalities, seizures, choreoathetosis, dystonia, reduced/absent deep tendon reflexes Other: Short stature Myhre syndrome AD SMAD4 Skin: Sclerodermatous skin disease Skeletal: Skeletal abnormalities, joint restrictions Cardiovascular: Hypertension, congenital heart defects, aortic stenosis, aortic coarctation, pericardial fibrosis Respiratory: Laryngotracheal stenosis, respiratory failure Neurological: Mental retardation, delayed language and motor skill development, behavioural issues (autistic-like) Other: Dysmorphic facial features, short stature, hearing loss, generalised muscle hypertrophy Stiff skin syndrome AD FBN1 Skin: Sclerodermatous skin disease (diffuse), lipodystrophy Skeletal: Joint restrictions, flexion contractures Other: Muscle weakness Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) AR SLC29A3 Skin: Hyperpigmented and hypertrichotic skin lesions on lower body, sclerodermatous skin disease Skeletal: Joint contractures (elbows, fingers and toes) Abdomen: Hepatomegaly, diabetes mellitus (insulin-dependent), splenomegaly Other: Short stature, hearing loss Reynolds syndrome AD LBR Skin: Sclerodermatous skin disease (tightened and shiny skin over the forearms and hands), sclerodactyly, calcinosis cutis, generalized darkening Other: Raynaud phenomenon, hepatomegaly, primary biliary cirrhosis, splenomegaly, esophageal dysfunction Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome /Nakajo-Nishimura Syndrome AR PSMB8 Skin: Erythematous nodular skin lesions and plaques on the face and extremities, dry, stiff, lipodystrophy Skeletal: Joint contractures (elbow, fingers/hands, toes, feet), joint pain Muscle: Lipodystrophy, muscle weakness Other: Poor growth, hepatomegaly, splenomegaly Mucolipidosis III gamma AR GNPTG Skin: Sclerodermatous skin disease Skeletal: Joint restrictions, joint stiffness, joint pain Cardiovascular: Aortic valve thickening, aortic stenosis Neurological: Mental retardation Other: Short stature Hurler-Scheie syndrome / Mucopolysaccharidosis Ih/s AR IDUA Skin: Sclerodermatous skin disease Skeletal: Joint stiffness, dysostosis multiplex Cardiovascular: Thickened mitral valve leaflets, aortic valve thickening, dilated left atrium, dilated left ventricle, mild pulmonary hypertension Respiratory: Frequent respiratory infections, nasopharyngeal obstruction, tracheal stenosis Abdomen: Umbilical hernia, hepatomegaly, splenomegaly Neurological: Pachymeningitis cervicalis Other: Short stature, corneal clouding Zimmermann-Laband Syndrome 1 AD KCNH1 Skin: Dry, sclerodermatous skin disease Skeletal: Scoliosis, hypoplastic distal phalanges (hands and feet), hyperextensible joints Abdomen: Hepatosplenomegaly, splenomegaly, umbilical hernia Cardiovascular: Cardiomyopathy, patent ductus arteriosus, aortic root dilatation, aortic arch dilatation Muscle: Poor muscle bulk Neurological: Hypotonia, seizures, mental retardation Other: Gingival fibromatosis, dysplastic or absent nails, hirsutism, abnormalities of the cartilage of the nose and/or ears Buschke-Ollendorff syndrome AD LEMD3 Skin: Subcutaneous nontender firm nodules, subcutaneous connective tissue nevi, elastin-rich connective tissue nevi (elastoma), collagen-rich connective tissue nevi (dermatofibrosis lenticularis disseminata) Skeletal: Osteopoikilosis, joint stiffness, osteosclerosis, melorheostosis Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy (GAPO) Syndrome AR ANTXR1 Skin: Sclerodermatous skin disease, redundant, prominent scalp veins, epidermal inclusion cyst Skeletal: Delayed bone age Other: Growth retardation, alopecia, pseudoanodontia, umbilical hernia, hepatomegaly Crouzon Syndrome with acanthosis nigricans AD FGFR3 Skin: Hyperpigmentation, acanthosis nigricans, melanocytic nevi, hypertrophy, sclerodermatous skin disease, redundant skin folds Skeletal: Craniosynostosis Frontometaphyseal dysplasia 2 AD MAP 3 K7 Skin: Keloid formation, sclerodermatous skin disease Skeletal: Skeletal abnormalities, joint contractures Cardiovascular: Patent ductus arteriosus, bicuspid aortic valve, aortic root dilation, pulmonary valve stenosis Respiratory: Congenital stridor, subglottic stenosis, tracheal stenosis Premature aging syndrome, Penttinen type AD PDGFRB Skin: Progressive cutaneous atrophy, thin translucent skin with prominent venous patterning, hypertrophic keloid-like lesions, skin retraction, sclerodermatous skin disease, lipoatrophy Skeletal: Delayed bone maturation, osteopenia, joint contractures Farber Lipogranulomatosis AR ASAH1 Skin: Early-onset subcutaneous nodules, lipogranulomatosis Skeletal: Painful and progressively deformed joints, arthritis Respiratory: Laryngeal nodules Abdomen: Hepatomegaly, splenomegaly Neurological: Irritability, motor retardation, mental retardation Other: Hoarseness by laryngeal involvement Amyloidosis, Primary Localised cutaneous, 3 (PLCA3) AR GPNMB Skin: Amyloid disposition in the skin, hyper- and hypo-pigmented macules, mild pruritis, dry skin Carney Complex, Type 1 AD PRKAR1A Skin: Cutaneous tumors, profuse pigmented skin lesions, nevi Cardiovascular: Tumors (atrial), ventricular myxoma, congestive heart failure Endocrine: Tumors, pigmented micronodular adrenal dysplasia, Cushing disease, acromegaly, thyroid follicular hyperplasia Other: Neoplasia, myxoid subcutaneous tumors, primary adrenocortical nodular hyperplasia, testicular Sertoli cell tumor (calcified), pituitary adenoma, mammary ductal fibroadenoma, schwannoma, psammomatous melanotic schwannomas, thyroid carcinoma, pheochromocytoma Porphyria cutanea tarda, Porphyria, hepatoerythropoietic AD, AR UROD Skin: Sclerodermatous skin disease (diffuse), increased mechanical skin fragility after sunlight exposure (photosensitivity), vesicles, bullae and blisters on exposed areas of skin, hyperpigmentation on sun-exposed skin Abdomen: Hepatic hemosiderosis, hepatic cirrhosis, liver biopsy shows red autofluorescence and needle-like cytoplasmic inclusion bodies Other: Neoplasia, increased incidence of hepatocellular carcinoma Phenylketonuria, non-PKU mild Hyperphenylalaninemia AR PAH Skin: Sclerodermatous skin disease, pale pigmentation, dry, eczema Neurological: Seizures, delayed development, mental retardation, behavioural problems and psychiatric disorders Other: Head, microcephaly, cataracts Porphyria, congenital erythropoietic AR UROS Skin: Sclerodermatous skin disease, photosensitivity, blistering and scarring, hyperpigmentation, hypopigmentation Skeletal: Osteolysis, osteopenia, finger contractures Other: Short stature, conjunctivitis, corneal scarring, hypertrichosis, alopecia, porphyrin-rich gallstones, splenomegaly Multicentric osteolysis, nodulosis and arthropathy (MONA) AR MMP2 Skin: Subcutaneous nodules (interphalangeal joints, knees, feet, elbows, pretibial), hyperpigmented erythematous lesions Skeletal: Osteoporosis, flexion contractures Winchester syndrome AR MMP14 Skin: Sclerodermatous skin disease (patchy, dark, leathery) Skeletal: Osteopenia, osteoporosis, arthropathy, joint restrictions Cardiovascular: Heart abnormalities Other: Corneal opacity, hypertrichosis, overgrowth of the gums, coarse facial features Multisystemic fibrosis-like hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) AD FAM111B Skin: Congenital poikiloderma (face and exposed skin), telangiectatic lesions, eczema-like lesions, epidermal atrophy Respiratory: Interstitial pulmonary fibrosis Muscle: Tendon contractures, muscle weakness, myopathy Other: Congenital poikiloderma on face Weill-Marchesani syndrome 1 AR ADAMTS10 Skin : Sclerodermatous skin disease Skeletal: Joint stiffness, joint restrictions Cardiovascular: Heart defects, aortic valve stenosis, pulmonary valve stenosis, ductus arteriosus, ventricular septal defect Neurological: Mild mental retardation Other: Short stature, brachydactyly, eye anomalies Weill-Marchesani syndrome 4 (WMS-like syndrome) AR ADAMTS17 Skin: Sclerodermatous skin disease Skeletal: Joint stiffness Cardiovascular: Cardiac defects (uncommon) Other: Short stature, severe myopia, acute and/or chronic glaucoma, cataract Frank-Ter Haar Syndrome AR SH3PXD2B Skin: Sclerodermatous skin disease (face), acne conglobata Skeletal: Osteolysis, osteopenia, osteoporosis, shortened bowed long bones, flexion deformities of fingers Other: Growth retardation, glaucoma, brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, malocclusion Geleophysic dysplasia 3 AD LTBP3 Skin: Sclerodermatous skin disease Skeletal: Joint restrictions, delayed bone age Cardiovascular: Pulmonary hypertension Respiratory: Dyspnea, tracheal stenosis, respiratory failure Other: Short stature, marked brachydactyly, hepatomegaly Geleophysic dysplasia 1 AR ADAMTSL2 Skin: Sclerodermatous skin disease Skeletal: Osteopenia, shortened long tubular bones, short hands and feet, joint contractures, joint restrictions, delayed bone age Cardiovascular: Progressive cardiac valvular thickening, cardiac failure, mitral stenosis, tricuspid stenosis, aortic stenosis Respiratory: Tracheal stenosis, respiratory insufficiency Neurological: Developmental delay, seizures Other: Short stature, ‘happy’ appearance with full cheeks, shortened nose, wide mouth, hepatomegaly Mucolipidosis II Alpha/Beta AR GNPTAB Skin: Sclerodermatous skin disease, cavernous hemangioma Skeletal: Skeletal abnormalities, moderate joint restrictions, osteopenia Cardiovascular: Cardiomegaly, congestive heart failure, hypertrophic cardiomyopathy, cardiac murmur, aortic insufficiency Respiratory: Recurrent bronchitis, recurrent pneumonia Abdomen: Umbilical hernia, hepatomegaly Neurological: Developmental delay, severe psychomotor retardation Other: Progressive failure to thrive, Hurler-like body configuration, marked growth retardation, coarse facial features, abdominal protuberance, hoarse voice Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 / Cranioosteoarthropathy AR HPGD Skin: Sclerodermatous skin disease, pachydermia, furrowed, oily, seborrhea, redundant, palmoplantar hyperkeratosis, eczema Skeletal: Digital clubbing, osteoarthropathy, arthralgia, arthritis, swollen joints, decreased joint mobility, osteopenia, osteoporosis Cardiovascular: Congenital heart disease, patent ductus arteriosus Other: Marfanoid habitus, coarse facial features, furrowed forehead, ptosis, thickened eyelids, turtle-backed nails, digital clubbing AD Autosomal dominant, AR Autosomal recessive, SSc systemic sclerosis
| 4.273438
| 0.928223
|
sec[2]/p[0]
|
en
| 0.999997
|
32917212
|
https://doi.org/10.1186/s12969-020-00466-1
|
[
"skin",
"skeletal",
"disease",
"sclerodermatous",
"joint",
"syndrome",
"cardiovascular",
"retardation"
] |
[
{
"code": "ME67",
"title": "Skin disorder of uncertain or unspecified nature"
},
{
"code": "ME66.Y",
"title": "Other specified skin changes"
},
{
"code": "EM0Y",
"title": "Other specified diseases of the skin"
},
{
"code": "ME60.Z",
"title": "Skin lesion of unspecified nature"
},
{
"code": "ME66.1",
"title": "Changes in skin texture"
}
] |
═══ ICD-11 CLASSIFICATION ═══
【1. Skin disorder of uncertain or unspecified nature (ME67)】
Definition: A category to enable the presence of a skin disorder to be recorded without making assumptions as to the precise nature of the disorder in question.
Synonyms: Skin disorder without established diagnosis | change of skin NOS | dermatological disease NOS | dermatological disorder NOS | dermatopathy
Hierarchy: Symptoms, signs or clinical findings, not elsewhere classified (21) → Symptoms, signs or clinical findings involving the skin → Symptoms or signs involving the skin → Skin disorder of uncertain or unspecified nature
【2. Other specified skin changes (ME66.Y)】
Synonyms: Cutis marmorata | Fear of skin disease | Retention hyperkeratosis | Dermatitis neglecta | Inflammation of skin, not elsewhere classified
Hierarchy: Symptoms, signs or clinical findings involving the skin → Symptoms or signs involving the skin → Miscellaneous non-specific skin-related symptoms and signs (ME66) → Other specified skin changes
【3. Other specified diseases of the skin (EM0Y)】
Synonyms: Adverse cutaneous effects of healthcare related interventions | Cutaneous complications of surgical, laser or other interventional procedures | Postprocedural cutaneous complications of surgical, laser or other interventions | Cutaneous complications of surgical procedures | Postprocedural cutaneous complications of surgical procedures
Hierarchy: Diseases of the skin (14) → Other specified diseases of the skin
【4. Skin lesion of unspecified nature (ME60.Z)】
Synonyms: Skin lesion of uncertain or unspecified nature | Skin lesion without established diagnosis | Pigmented skin lesion of unspecified nature | Ulcer of skin of unspecified nature | skin lesion NOS
Hierarchy: Symptoms, signs or clinical findings involving the skin → Symptoms or signs involving the skin → Skin lesion of uncertain or unspecified nature (ME60) → Skin lesion of unspecified nature
【5. Changes in skin texture (ME66.1)】
Definition: Alterations in skin texture of unspecified cause.
Synonyms: Skin textural disturbance | Thickening of skin | induration of skin | Skin sclerosis | Skin crusting
Hierarchy: Symptoms, signs or clinical findings involving the skin → Symptoms or signs involving the skin → Miscellaneous non-specific skin-related symptoms and signs (ME66) → Changes in skin texture
|
ME67
|
Skin disorder of uncertain or unspecified nature
|
In the following, cases with SA errors are described (see Table 2 for details). Case 1 refers to information that was either missing due to insufficient communication or that was simply forgotten. Cases 2–4 are examples of barriers that physically preclude from information to become (acoustic and visual) sensory input (e.g., “After putting the drapes, the access to both peripheral iv lines was hampered”). In case 3, specifically, “small fonts” on a display prevented from a more timely recognition of the fact that a propofol syringe pump ran with remifentanil and vice versa. In case 5, relevant information was missed due to the decision not to use a patient monitor. Case 6 describes the mis perception of drug labels resulting in the decision to use hydroxyethyl starch to keep open an arterial line. The reporting individual identified a look-alike problem of drugs (“both look similar”) which is a problem addressed extensively elsewhere . In these cases (1–6), the involved individuals did not perceive relevant information and consequently, they did not comprehend important aspects of the situation and, as a result, wrong or no decisions were made. Table 2 Fifteen examples of SA errors Case number Case description Analysis from the SA perspective SA level 1 An anesthesiologist took over a patient who had undergone massive transfusion including catecholamine therapy. He reports to have received a “detailed handover” and that his job was to finish the procedure and to transport the patient to ICU. Just before leaving the OR he replaced an empty infusion bag with a new one in order to continue volume replacement. Immediately afterwards, the patient’s suffered from ventricular arrhythmia and the systolic blood pressure increased to 250 mmHg. “During check of the i.v.-lines I noticed that the adrenaline syringe pump had been connected to the central line by two extension lines type Heidelberger. Obviously they had filled with highly concentrated adrenaline which was administered unintentionally during volume resuscitation.” The anesthesiologist was not aware about a significant amount of adrenaline in the lines. Possibly, the hand-over, which he felt to be “detailed”, did not include information about this fact (SA-I). Alternatively, he may have forgotten this information in face of a complex situation where gaining complete SA in short time is challenging for someone who had not been involved until this moment. SA I data not available or memory loss 2 “The code blue physician does not hear the beeper. The beeper turns off after a certain time. The causes are a significant noise exposure on the ICU and the high frequency of phone calls.” The code blue physician did not perceive the alarm (SA-I). The reporting individual mentions acoustic barriers on one hand and high workload on the other hand as causes. SA I hard to detect 3 “For economic reasons, sometimes, nurses program the syringe pumps. In this case a syringe pump programmed for propofol ran with remifentanil and, accordingly, it ran too slow. […] The only striking point was that we had propofol in the remifentanil line repeatedly and despite high infusion rates, we still had the first syringe of remifentanil after hours. Having a closer look we were able to recognize propofol in small fonts on the display whereas remifentanil was indicated on the syringe label.” It largely remains unclear why the nurse allocated the drugs incorrectly. Assumingly some information (syringe content or pump program) has been forgotten. However, the reporting individual clearly states that important information was displayed in small fonts hindering a fast and quick recognition of the content of syringe pumps (SA-I). SA I data hard to discriminate 4 “After putting the drapes, the access to both peripheral iv lines was hampered. During team-time-out one of the surgeon leant against the arm compressing the iv lines while the anesthesiologist paged through the patient’s health record […] so that the anesthetics entered the infusion bag of the crystalloids. During skin incision the patient showed increase of heart rate and moved the arms. Then, we switched the administration of anesthetics to the other iv access.” Important visual information from iv lines (obstruction) was not perceived due to a visual barrier (drapes). Furthermore, the visual attention was directed to the patient’s health record during team time out. It remains speculative why a non-return valve had not been used and whether the use of such a valve had resulted e.g., in high-pressure alarms in the syringe pumps (SA-I). SA I hard to detect and failure to observe 5 After uneventful anaesthesia the patient was transferred to another location. There, the first systolic blood pressure assessed was 60 mmHg. “In this OR a transport monitor does not exist. The short transfer regularly is done without monitoring. Every time a monitor is required, we have to get it from elsewhere which is time-intensive.” The case reveals structural problems as a monitoring device is not easily available and the anesthesiologists avoid time delays in face of assumingly uncomplicated cases. As a result, important information is missed (SA-I). SA I failure to monitor 6 “To keep open an arterial line, HES [hydroxyethyl starch] was used instead of saline. Both look similar but HES is an emergency substance so that it should be stored in a different place.” As both infusions look similar (look-alike problem), the information was correct but obviously misperceived (SA-I). SA I misperception 7 “A patient is transferred to ICU with several syringe pumps including a pump for TIVA [total intravenous anaesthesia] that had been equipped with a catecholamine. The ICU personnel are not familiar with that type of pumps. […] Unintentionally, the patient got a high bolus.” A health care provider works with a syringe pump he is not familiar with. Although all the dynamic information is present (rates, drugs, indication), the individual applies an incorrect mental model of the pump’s operating mode and thus, he lacks of comprehension (SA-II). SA II use of incorrect mental model 8 “two oral drugs […] had been given via the central venous line instead of the gastric tube.” Assumingly, all the relevant information (e.g., package insert, drug orders) was present, but the individual lacks of a mental model with respect to how these drugs are administered (SA-II). As a result he does not comprehend that these drugs have to be administered in another way. SA II use of incorrect mental model 9 “ […] On the third postoperative day […] the epidural was stopped. On the next morning, the anesthetist cannot visit the patients due to concurrent obligations. During the evening visit, the anesthetist noticed that ropivacaine was re-started but that it was connected to a peripheral venous line. The infusion was stopped immediately.” Assumingly, all the relevant basic information was present: drug, patient and indication (SA-I). But the information was not properly integrated, due to missing knowledge or the use of missing or an incorrect mental model (SA-II). If someone is confronted with a set of information he can’t process due to missing contextual contents in the long-term memory, he will probably ask for assistance. If an incorrect model is used, he won’t recognize the error as long as there is no additional information such as visible adverse effects. SA II use of incorrect mental model 10 "During TIVA a change of the syringe (remifentanil) was pending. The syringe had been prepared by the nurse (50 ml, clear solution). The label “remifentanil” and the ampoule lied besides the syringe. The nurse told to the anesthesiologist that the remifentanil syringe was prepared. The anesthesiologist changed the syringe; in the following minutes, the patient shows tachycardia and high blood pressure, deepening anaesthesia is without success. When the nurse came back, she asked if the anesthesiologist had added the remifentanil to the prepared syringe. As it turned out, the communication […] was unclear and stated a potential danger for the patient.” The anesthesiologist incorrectly assumed a syringe to be correctly prepared (SA-II). Visible information (the ampoule next to the syringe) was not perceived or not integrated in order to come to the conclusion that the syringe contained purely saline. Additionally, the reporting individual identified a lack of information resulting from unclear communication as the cause. SA II over-reliance on default values 11 “A critically ill patient with complex pains, who was visited by pain physicians for 4-fold analgetic medication. During change of syringe pump, ketamine is administered in wrong dosage, 50 mg/ml instead of 1 mg/ml is administered, as it is usual for sedation. During shift change the error is recognized. […] The patient was awake throughout the case […] but suffered from headache.” The nurse who changed the syringe prepared the dosage as usual (assuming standard values), despite differing information from the medication order as indicated through the fact that this was recognized during shift change. This may have happened through an over-reliance on default values (SA-II) although additional information was available that would have resulted in a different action (preparing the correct dosage). SA II over-reliance on default values 12 “During thoracic surgery (VATS lobectomy) the suction catheter was introduced too deep in the tracheal part of the double-lumen tube. […] Lobectomy is performed using a stapler. The suction catheter could not be removed for checking for leakiness […]. As a cause, the stapler had fixed the suction catheter. An anterior thoracotomy was performed […] and the suction catheter was removed successfully.” The anesthesiologist, assumingly, was aware about the surgical procedure to be performed (use of stapler). Additionally he had the information about the suction catheter as he himself had inserted it. This information has not been integrated properly as he relied on his experience from prior situations where removing the device was always without problems and long-term memory content such as a mental model or prototypical situations suited to successfully integrate the basic data was not used or not present. As a result, also a problem on the level of projection emerges as an anterior thoracotomy had to be performed unexpectedly. SA II lack of or incomplete mental model 13 “A surgeon indicated emergency surgery. There is no written information about patient history and it is impossible to get the information orally [from the patient]. The patient is assessed clinically, an old scar from tracheostomy is visible which indicates possible intubation problems. The anesthesiologist put himself under pressure and induces anaesthesia without investigating the background or consulting the admitting hospital. A rapid sequence induction is performed. Intubation with a 8.0 size tube is not possible, bag mask ventilation works, a 7.0 mm is not introducible as well, and a laryngeal mask (4 and 5) is not tight so that adequate ventilation is impossible. Finally, another physician successfully intubates.” Unexpectedly, the anesthesiologist ran into intubation difficulties, indicating an error on the SA level of projection (SA-III). This is supported by the retrospective statement that he worked under avoidable time pressure and that, as a consequence, search for additional information was omitted (SA-I). Regardless of the fact whether the simple presence of a scar from tracheostomy should prompt the preparation for difficult airway management, a mental model that integrates the basic data (tracheostomy in the past) to SA on the level of projection “expected difficult intubation” was absent (SA-III). SA III lack of or incomplete mental model 14 A patient is scheduled for hip replacement. […] Until the use of palacos bone cement everything went fine. […] Immediately after inserting palacos bone cement, end-tidal CO 2 drops from 37 to 13 mmHg. Oxygen saturation does not provide values. At the beginning, a sinus tachycardia of 140 bpm is noticed, quickly followed by deformed QRS complexes. Heart rate drops to 20 bpm. Cardiopulmonary resuscitation is initiated immediately. The working hypotheses are air embolism, fat embolism and allergic reaction. An unexpected deterioration due to the use of palacos bone cement is described (SA-III). A dramatic change of vital parameters is the basic information (SA-I) that results in a re-evaluation of the situation. As a consequence, the anesthesiologist comprehends that cardiopulmonary resuscitation is required (SA-II). Additionally, based on basic information, possible causes are discussed. SA III over-projection of current trends 15 A geriatric patient with dementia is transported to the emergency department. He has a visible laceration on the head after having fallen out of the bed. The laceration was sutured and a CT scan ordered in face of increasing somnolence. “ A medical student saw that nobody had placed a cervical collar and that the patient complaint about pain when the head was positioned for suturing. He did not communicate his observation […]. The scan showed a facture of atlas and axis.” There are relevant cues that indicate the possibility of a lesion of the cervical spine (fall, laceration on head, increasing somnolence, pain during movement of the head). The reporting individual emphasizes that the team did not comprehend the possibility of a spine lesion that is, they either did not possess over the mental model that allowed for meaningful integration of the information mentioned above (SA-II) or they simply did not perceive some piece of information, e.g., pain during movement of the neck (SA-I). SA I failure to observe SA II Another point refers to a lack of communication as the medical student did not speak up (Team SA). Communication can refer to the SA level of comprehension (e.g., “we cannot rule out a spinal lesion, therefore cervical collar makes sense”) or to the level of perception (e.g., “every time the patients head/spine is moved, the patient complaints about pain”). missing mental model TEAM SA Fifteen cases during which SA errors led to errors or near misses. SA-I refers to the level of perception, SA-II to the level of comprehension, SA-III to the level of projection, respectively
| 3.974609
| 0.783691
|
sec[2]/sec[1]/p[0]
|
en
| 0.999998
|
26772179
|
https://doi.org/10.1186/s12871-016-0172-7
|
[
"information",
"syringe",
"model",
"mental",
"anesthesiologist",
"remifentanil",
"level",
"time"
] |
[
{
"code": "NA07.09",
"title": "Concussion with loss of consciousness, duration unspecified or unknown due to lack of information"
},
{
"code": "PK90.0",
"title": "Anaesthesiology devices associated with injury or harm, diagnostic or monitoring devices"
},
{
"code": "6E8Z",
"title": "Mental, behavioural or neurodevelopmental disorders, unspecified"
},
{
"code": "6A00.Z",
"title": "Disorders of intellectual development, unspecified"
},
{
"code": "6E6Z",
"title": "Secondary mental or behavioural syndrome, unspecified"
}
] |
═══ ICD-11 CLASSIFICATION ═══
【1. Concussion with loss of consciousness, duration unspecified or unknown due to lack of information (NA07.09)】
Hierarchy: Injuries to the head → Intracranial injury (NA07) → Concussion (NA07.0) → Concussion with loss of consciousness, duration unspecified or unknown due to lack of information
【2. Anaesthesiology devices associated with injury or harm, diagnostic or monitoring devices (PK90.0)】
Definition: An anaesthesiology device was involved in an incident that occurred in a diagnostic or monitoring task
Synonyms: Anaesthesiology devices associated with injury or harm, arterial pressure monitoring catheter | Anaesthesiology devices associated with injury or harm, pulse oxymeter giving faulty information
Excludes: Circumstances associated with a surgical or other medical device influencing the episode of care without injury or harm
Hierarchy: Causes of healthcare related harm or injury → Surgical or other medical devices, implants or grafts associated with injury or harm in therapeutic use → Anaesthesiology devices associated with injury or harm (PK90) → Anaesthesiology devices associated with injury or harm, diagnostic or monitoring devices
【3. Mental, behavioural or neurodevelopmental disorders, unspecified (6E8Z)】
Synonyms: Psychiatric disorder | mental disease NOS | mental disorder NOS | mental illness
Hierarchy: Mental, behavioural or neurodevelopmental disorders (06) → Mental, behavioural or neurodevelopmental disorders, unspecified
【4. Disorders of intellectual development, unspecified (6A00.Z)】
Synonyms: Disorders of intellectual development | Mental retardation | Intellectual developmental disorder | Intellectual disability | intellectual disabilities
Hierarchy: Mental, behavioural or neurodevelopmental disorders (06) → Neurodevelopmental disorders → Disorders of intellectual development (6A00) → Disorders of intellectual development, unspecified
【5. Secondary mental or behavioural syndrome, unspecified (6E6Z)】
Synonyms: organic mental disorders | Secondary mental and behavioural disorders | Mental or behavioural syndromes due to health conditions not classified under mental or behavioural disorders
Hierarchy: Mental, behavioural or neurodevelopmental disorders (06) → Secondary mental or behavioural syndromes associated with disorders or diseases classified elsewhere → Secondary mental or behavioural syndrome, unspecified
|
NA07.09
|
Concussion with loss of consciousness, duration unspecified or unknown due to lack of information
|
Fetal death was identified on admission during training in the use of the sonicaid in one mother (see Table 4 below). Table 4 Clinical information and outcomes of FHR changes identified by monitoring. Abbreviations: see list Maternal age group (years) Parity Change in FHR identified Action taken Apgar scores at 1 and 5 min Resuscitation given Maternal comment 29–39 G5P2 By mother. FHR 115 with meconium Confirmed by MW Lateral tilt and intravenous cannula with NS bolus Vacuum delivery 9 and 10 No According to patient she lost her fetus during past pregnancy. Here she was happy when she noticed her fetal heart beat was dropping and the quick response that was processed 29–39 G3P2 By MW and mother during training in the use of the sonicaid at time of admission. No FHR was identified and there was 3+ meconium Ultrasound confirmed IUFD. Vacuum delivery was undertaken NA NA NA 17 and below G2P0 By mother at 46th contraction FHR 109 with meconium Cervix fully dilated and urged to push. NVD occurred. 4 and 7 Yes. Bag and mask ventilation, adrenaline and chest compressions for 10 min. Admitted to the NNU for post resus care and close monitoring Developed convulsions due to HIE and treated successfully with phenobarbital and recovered and was feeding normally at discharge home aged 7 days. Listening to my baby heart was good. It help me to know that something was happening to her. No problem with it. Thank you. 18–28 G2P0 By mother FHR 119 at 49th contraction. There was + meconium present Vacuum delivery 7 and 10 No I like the thing I was doing but it was hard to do because of the pain. 18–28 G2P1 By mother FHR 119, 117, 116. No meconium. Patient was not progressing at this stage. 2 cm cervical dilatation with mild contractions. MW/OC took over the monitoring due to the bradycardia. Doctor contacted. Patient was laterally tilted, given oxygen, D50%, hydrated and rushed to the OR for CS. 7 and 10 No Thank you for this program. If not so my baby was going to die. The only thing that the pain. 18–28 G2P1 No previous CS By mother FHR 163–165 with meconium. Signs of Bandl’s ring and obstructed labour with haematuria identified. Not receiving oxytocin. Emergency CS 9 and 10 No Thank you for saving my life and my baby. It really helpful to listen to my baby heart to know what was happening to me. 18–28 G3P2 By mother FHR 119,110,118. No meconium. OC and doctor contacted and confirmed bradycardia Given facial oxygen, lateral tilt, N/S and D50%. Patient was 6 cm dilated at this stage. Emergency CS 8 and 10 No I feel good when I was listening to my baby heart. It help me to know what happen to my baby. 18–28 G1P0 By mother at 46th contraction FHR 117, then 114, then 116, then 113. No meconium. Fully dilated but descent only minus 2 Lateral tilt, D50%, oxygen, NS and FHR still below 120 She sat on birthing chair for 10 min and when head reached below 0 station (re: ischial spines) vacuum delivery was successfully undertaken 7 and 10 No Thank you for what you bringing because when it was not because of it I was not coming to know say my baby heart was not beating good. That just the pain was giving me hard time thank all. 17 and below G1P0 FHR found to be 95–100 by mother, FHR was repeated by midwife and confirmed low, 95–98, and Doctor on call was also informed. Patient was placed in a left lateral tilt position Patient was reviewed and decision to CS was taken for fetal distress plus prolonged labour 6 and 9 None Not requested at this stage in programme 18–28 G3P1 Mother reported a change in FHR but when checked by MW found FHR to be normal at 142. Meconium was present Doctor informed but no action was considered necessary 6 and 10 None Not requested at this early stage in programme 17 and below G1P0 On 11th contraction mother reported slow heart rate. MW was contacted but she found FHR was 153. There was no meconium the OC was contacted. Mother’s membranes were ruptured and vacuum delivery undertaken 7 and 10 None Not requested at this early stage in programme 17 and below G1P0 Mother noted change in FHR and contacted MW on 15th contraction. MW noted FHR 118 and informed OC. Meconium was present repeat fetal heart rate was 105. Mother put in lateral tilt position and informed Dr. who reviewed patient and found fetal heart rates 110, 105, and 108. Emergency CS was performed 8 and 10 None Not requested at this early stage in programme 18–28 G2P1 On 11th contraction mother noticed bradycardia. Midwife confirmed FHR 118 Grade 3 meconium was present. Patient placed in left lateral position and called OC. OC found FHR to be 110. Left lateral tilt. Cervix was fully dilated and vacuum delivery was undertaken. 6 and 9 Bag and mask ventilation. Admitted NNU for 5 days and treated for sepsis. Not requested at this early stage in programme 18–28 G1P0 Yes - by MW following being declined by mother FHR 95–100 on two successive occasions Lateral tilt and subsequent CS for non-reassuring FHR 5 and 7 Bag and mask ventilation and admitted to NNU. No HIE and went home. Following initial consent, patient later declined to monitor her FHR. Says she was tired of monitoring. 18–28 G3P2 Mother on 14th contraction noticed change in FHR to 102. And complained of weakness. She called for help and FHR was102. No meconium was present. OC contacted, lateral tilt and intravenous (IV) cannula with 500 ml of Ringer Lactate given. Normal vaginal delivery followed. 6 and 10 This baby was resuscitated for 5 min with bag and mask ventilation and then transferred to the NNU where he was immediately placed on nasal CPAP and an IV line was opened to serve antibiotics because amniotic fluid was also purulent and foul smelling. IV fluid (Dextrose 10%) was set up. Baby was managed for 7 days in the NNU and was discharged home with good outcome. According to mum monitoring is hard at certain times. She knew her baby's heart rate was low and we took quick action and now the baby is in her hands so she thank the organisation. 17 and below G1P0 On the 14th contraction the mother called the MW because the FHR was low. The MW confirmed FHR 98, called for help and undertook lateral tilt. Meconium was present. The OC was contacted. She opened IV line and gave R/L 1000 mL, informed the doctor on call. The doctor came and assessed the patient and said we should prepare patient for CS. CS was done for prolonged labour and abnormal FHR. 5 and 10 Neonate was resuscitated for 7 min by bag and mask ventilation before transferring to the NNU. She was placed on nasal CPAP for 24 h and was also managed for risk of sepsis. Neonate improved after 8 days and was discharged. According to mum it is okay because this help the doctor nurses to take quick action 17 and below G1P0 On the 7th contraction, mother detected fetal bradycardia 105 bpm. MW called and checked and confirmed FHR 105. Meconium was present. Grade 3 OC was called. Lateral tilt was undertaken and fast vaginal delivery arranged as 9 cm cervix dilated. Birth weight 1.9Kg small for dates. 7 and 10 Baby was resuscitated for 2 min by bag and mask ventilation and then transferred to NNU. She was placed on nasal CPAP for 24 h and patient condition improved. Baby was also managed for risk of neonatal sepsis because mother’s amniotic fluid was purulent, foul-smelling during delivery. The baby was discharged home after 10 days with a weight of 2.3 kg Patient initially declined procedure but later on she was encouraged to do it herself and everything went well 18–28 G5P4 On 6th contraction, mother detected bradycardia 108 bpm. MW confirmed FHR 108. Meconium was present. OC contacted. Lateral tilt performed. IV cannula inserted and given NS 500 ml. Normal vaginal delivery occurred. 5 and 8 Male Bag and mask ventilation given. No HIE occurred but he needed 5 days of antibiotics for umbilical infection. Patient worry when the heart rate was reducing but at last she was happy because her baby came through 29–39 G5P3 On 2nd contraction monitored mother identified rapid heart rate. MW confirmed FHR 190 and called for help, Doctor called and attended. Lateral tilt and IV cannula and N/S 500 ml set up. Vacuum delivery was undertaken. 6 and 8 Neonatal clinician was called and baby resuscitated with bag and mask ventilation and recovered within 1 min. Responded well and taken to NNU for suspicion of sepsis. No HIE. Mother said she was happy with the monitoring because she could have had a dead baby if she didn’t monitor. She’s also asking other mothers to accept and be part of the process 17 and below G2P1 On 6th contraction, Mother reported fall in HR. MW confirmed FHR 109 Meconium present. Lateral tilt applied and IV cannula inserted with R/L 500 mls plus Dextrose 50% 30 ml. OC contacted and quickly delivered the baby vaginally. 6 and 7 Mildly depressed but no resuscitation needed. Neonatal clinician continued monitoring and care. Patient was very happy because she call for help and action was taken quickly by the OB clinician and her baby was save. 18–28 G3P0 On 27th contraction, Mother detected slowing of FHR. MW confirmed FHR 109. Grade 2 meconium was present. Dr. on call contacted. Lateral tilt and IV cannula inserted. R/L 500 mls given IV. Doctor arrived and undertook CS. 7 and 10 Resuscitated for 2 min with bag and mask ventilation. According to mother she was very happy, and she told everybody thanks because of the monitoring her baby was saved 17 and below G1P0 On 7th contraction mother noted fast heart rate. MW confirmed FHR 167. Patient came in fully dilated but evidence of obstructed labour due to persistent occipito-posterior malposition. Lateral tilt and IV cannula inserted. NS 500 mls given IV. Doctor arrived and undertook CS. 9 and 10 None needed Mother was happy to hear her baby heart beat because she stay in labour for long and worry about her unborn baby 40 and above G9P8 On the 7th contraction mother with MW noted a slow heart rate FHR 102. Meconium was present and a cord prolapse identified. The OC was notified and implemented knee chest position and inserted NS 300mls into the bladder to reduce cord compression. IV cannula was inserted and NS 500 mls given. A CS was then undertaken. 6 and 10 Depressed breathing. Resuscitated for 1–3 min with bag and mask ventilation. Taken to NNU as 1.7 Kg and 30 weeks’ gestation No HIE. Home after 14 days According to mother monitoring is good but she cannot continue it herself due to pain. At last she said it help her with a live neonate 17 and below G2P1 previous CS On 12th contraction, Mother reported slowing and with MW reported a FHR 124. Meconium present Grade 3 Then FHR dropped to 119 bpm OC was called and after lateral tilt established IV line and gave 500 ml NS. A CS was then undertaken. 7 and 8 No resuscitation needed but foul-smelling amniotic fluid at CS led to NNU admission and IV antibiotics. Mother agreed to the process, she started it but discontinue due to pain and was helped by midwife and OB clinician. Mother said it’s a good thing, it help her have a live baby 29–39 G1P0 Induced for post date. On the 8th contraction mother noted a slow heart rate. MW contacted and confirmed FHR 110. Meconium was present. OC informed and FHR was 112. Cervix fully dilated. Lateral tilt and placed in delivery room for vacuum delivery. However, within 5 min delivered NVD spontaneously. A very short umbilical cord was present. 5 and 7 Depressed breathing Resuscitated for 5 mins with bag and mask ventilation and taken to NNU and given antibiotics. Later became stable and discharged. The monitoring was good, it is a good idea and I hope it will continue because it will save a lot of babies as it did mine. Sometimes the midwives are busy so this will help them and help us the mothers too. Mother was hospital medical director ‘s sister in-law 29–39 G5P4 On the 30th contraction mother noted a slow heart rate. MW confirmed FHR 118. MW performed lateral tilt and informed the OC and set up IV infusion of R/L 500 ml. Dr. ordered repeat and FHR 106. Cervix only 4 cm dilated. Descent 3 / 5. Discussion for CS was done but no CS materials available, so patient was referred to another hospital. 8 and 9 None needed after CS at referral hospital I like listening to my baby heart but I don’t know if my baby will live again now that I am going to a different hospital. Outcome at second hospital after CS was good for mother and baby. 18–28 G1P0 On the 20th contraction OC and student MW confirmed a slow FHR 105. No meconium seen. Lateral tilt was undertaken. The cervix was already 10 cm dilated and there were poor maternal efforts. An IV cannula was inserted and she was given 30 ml dextrose 50%. Baby was delivered by vacuum. 5 and 6 Yes, by neonatal clinician bag and mask ventilation for 5–10 min. Admitted to NNU for neonatal depression. Neonate recovered quickly on nasal CPAP. Improved and went home well. Mother had declined monitoring but this was done by student MW. 18–28 G1P0 On 30th contraction mother noted slowing of FHR. There was no meconium at this time. MW and OC identified FHR of 115, 118,122. Lateral tilt and Doctor notified. An IV cannula inserted and given N saline 500 ml plus Dextrose 50% 30 ml. The cervix was 10 cm dilated. OC did vacuum with Dr. present but failed 3 times. Dr. and OC proceeded to immediate CS. Intraoperative meconium was present 5 and 7 Bag and mask ventilation for mild respiratory depression. Recovered rapidly and went home. The monitoring is good but I was not able to do it all by myself because of the pain and my foot pain. Yes my baby is living so it help. No problem with it but the pain can be too much. 18–28 G4P0 On 51st contraction mother noted slowing of fetal heart rates. MW recorded FHR 109, 178,120,110,181,102,130 Meconium was present Lateral tilt was performed, and OC notified. IV fluids were started, and 30 ml of 50% dextrose given IV. The doctor was also called and due to FHR changes, high station on vaginal examination, and bad obstetric history (G4P0) proceeded with the OC to CS. 8 and 10 No The monitor help me to inform the midwife that my baby was not breathing good. So I see it to be good for all the big belly with stomach hurting pain. Abbreviations are defined in the list given earlier in the manuscript
| 3.871094
| 0.873047
|
sec[2]/sec[4]/p[2]
|
en
| 0.999997
|
32536345
|
https://doi.org/10.1186/s12884-020-02921-z
|
[
"mother",
"baby",
"meconium",
"tilt",
"contraction",
"heart",
"present",
"delivery"
] |
[
{
"code": "QA48.1",
"title": "Care or examination of lactating mother"
},
{
"code": "KB60.1",
"title": "Syndrome of infant of a diabetic mother, type 1 or 2, nongestational, insulin dependent"
},
{
"code": "1C1D.0",
"title": "Primary yaws"
},
{
"code": "KD35",
"title": "Neonatal withdrawal syndrome from maternal use of drugs of addiction"
},
{
"code": "KB60.0",
"title": "Syndrome of infant of mother with gestational diabetes"
}
] |
═══ ICD-11 CLASSIFICATION ═══
【1. Care or examination of lactating mother (QA48.1)】
Synonyms: care of lactating mother | examination of lactating mother | supervision of lactation | supervision of breastfeeding | care of breastfeeding mother
Excludes: Certain specified disorders of breast or lactation associated with childbirth
Hierarchy: Reasons for contact with the health services → Contact with health services for reasons associated with reproduction → Postpartum care or examination (QA48) → Care or examination of lactating mother
【2. Syndrome of infant of a diabetic mother, type 1 or 2, nongestational, insulin dependent (KB60.1)】
Definition: Describes the range of effects on the infant born to a woman with pregestational diabetes mellitus (type 1 or type 2). Common neonatal effects include macrosomia, intrauterine growth restriction, birth injuries, congenital anomalies, hypoglycaemia, respiratory distress, caudal regression syndrome and hypertrophic cardiomyopathy.
Synonyms: infant of a diabetic mother syndrome | maternal diabetes syndrome | syndrome of infant of diabetic mother | infant of diabetic mother | pre-existing maternal diabetes mellitus affecting fetus or newborn with hypoglycaemia
Hierarchy: Certain conditions originating in the perinatal period (19) → Transitory endocrine or metabolic disorders specific to fetus or newborn → Transitory disorders of carbohydrate metabolism specific to fetus or newborn (KB60) → Syndrome of infant of a diabetic mother, type 1 or 2, nongestational, insulin dependent
【3. Primary yaws (1C1D.0)】
Definition: Primary yaws results from primary inoculation of Treponema pallidum subsp. pertenue into the skin, manifesting 2-12 weeks later as a localised papule (initial, primary or ‘mother' yaw) before developing into a large non-tender ulcerating nodule, often resembling a raspberry (hence the name ‘framboesia’). The primary lesion is most commonly located on the legs and ankles may also be found on the bu...
Synonyms: Chancre of yaws | Primary framboesia | initial lesions of yaws | mother yaw | initial framboesia
Hierarchy: Certain infectious or parasitic diseases (01) → Other bacterial diseases → Yaws (1C1D) → Primary yaws
【4. Neonatal withdrawal syndrome from maternal use of drugs of addiction (KD35)】
Definition: Intrauterine exposure to addictive drugs can lead to neonatal withdrawal symptoms. Withdrawal symptoms are usually neurological, preventing normal autonomic function. The clinical presentation of drug withdrawal is variable and dependent on several factors, such as, the type and dose of drug used and rate of metabolism and excretion of the mother and infant.
Synonyms: Drug withdrawal syndrome in infant of dependent mother | Neonatal abstinence syndrome | drug withdrawal syndrome in newborn | neonatal drug withdrawal syndrome
Excludes: Fetus or newborn affected by maternal anaesthesia or analgesia in pregnancy, labour or delivery
Hierarchy: Certain conditions originating in the perinatal period (19) → Certain disorders originating in the perinatal period → Neonatal withdrawal syndrome from maternal use of drugs of addiction
【5. Syndrome of infant of mother with gestational diabetes (KB60.0)】
Definition: Describes the range of effects on the infant born to a woman with gestational diabetes (onset or first recognition of carbohydrate intolerance of variable severity in pregnancy). Common neonatal effects include macrosomia, intrauterine growth restriction, birth injuries, congenital anomalies, hypoglycaemia, respiratory distress, and hypertrophic cardiomyopathy.
Synonyms: infant of mother with gestational diabetes | IGDM - [infant of gestational diabetic mother] | Fetus or newborn with hypoglycaemia affected by maternal gestational diabetes | Fetus or newborn affected by maternal gestational diabetes | hypoglycaemia in infant of mother with gestational diabetes
Hierarchy: Certain conditions originating in the perinatal period (19) → Transitory endocrine or metabolic disorders specific to fetus or newborn → Transitory disorders of carbohydrate metabolism specific to fetus or newborn (KB60) → Syndrome of infant of mother with gestational diabetes
|
QA48.1
|
Care or examination of lactating mother
|
In the following, the 5 fictional case vignettes are presented, together with the respective solutions proposed by the algorithm. Findings that were not covered by the initial vignettes, are pointed out. The general estimation, or “next steps”, of each case by the app is given. Also, notes on unclear/critical aspects of each case are made. Case 1 Patient basic data: Michael M., male, dob 01.01.1979 (41y/o), non-smoking, no treated hypertension, or diabetes. Symptom: Pain in the right lateral elbow region Fictional diagnosis: Lateral epicondylitis of the humerus (tennis elbow) History: The patient has a normal desk job, but has been doing leisure sports for years. For 10 months now he no longer participates in his previous sport that primarily involved running and instead has started playing badminton with friends twice a week. During this time he has noticed pain in the right (dominant arm) lateral elbow and the nearby forearm muscles, especially in the days after training. This pain is intensified by activities with a firm grip (e.g. opening screw caps, carrying water boxes, etc). These specific complaints have never completely resided and instead have increased in the last few weeks, reaching a 5 of “moderate pain” intensity on a visual analogue scale (VAS), ranging from 1 no pain to 10 worst pain. The patient does not recall any past trauma to this region, and does not have any other complaints in other parts of the body. He has not yet seen a doctor for this reason, but because of the pain, which is now considered to be unpleasant, one day after a game he uses the AI app. Examination results: Pressure pain above the lateral epicondyle of the humerus and pressure pain in the proximal muscles of the forearm with tender muscles. No signs of inflammation such as redness, swelling/articular effusion, overheating, or any lasting disturbance of function in everyday life. Range of motion (ROM) is not restricted, peripheral circulation, motor function and sensitivity are intact. Not anticipated while creating the vignette (and filled in while using the app in this trial): No lumps under the skin on the elbow, no lumps under the skin on the forearm or hand, no muscle cramps in the arms and hands, no bruise on the arm, no reduced mobility of the fingers, no reduced mobility of the wrist. Number of symptom-related questions: 27 General app estimation (“next steps”): People with symptoms similar to yours can usually manage their symptoms safely at home. You could also seek advice by visiting or contacting your local pharmacy. If your symptoms persist longer than expected, if they get worse, or if you notice new symptoms, you should consult a doctor for further assessment and advice. Suggested diagnoses: 1. Tennis elbow (can usually be managed at home): 7 out of 10 people with these symptoms had this condition (➔ suggested therapy: Cryotherapy, medication against pain and inflammation, and physical therapy) 2. Golfer’s elbow (can usually be managed at home): 2 out of 100 people with these symptoms had this condition. 3. Less likely causes: Injury due to chronic overuse of the forearm muscles . Note: no questions were asked about the specific side of the affected elbow (i.e. medial vs. lateral); it was not asked whether the complaints would also become stronger at rest or more so during activity (stated pain: moderate; theoretically: hardly at rest, stronger under stress). Case 2 Patient basic data: Sarah S., female, dob 01.01.1993, (27 y/o), not pregnant, non-smoking, no treated hypertension, or diabetes. Symptom: Pain in left Ankle (joint) Fictional diagnosis: Ankle sprain (distortion of the anterior fibulotalar ligament ) left History: 2 h earlier, the patient had twisted her left foot during volleyball causing supination trauma. With immediate onset of pain, she had stopped playing and limped to the side bench under careful axial load on her left leg. A teammate had given her an ice pack, so she had iced and slightly elevated the leg. Above the lateral ankle a larger swelling has formed, she doesn’t dare attempt full weightbearing anymore, because it is quite painful, which she subjectively reports as “strong” (VAS 8). Worried about a more serious injury, she now uses the app. Examination results: Swelling in the area of the anterior fibulotalar ligament, pressure pain at the anterior distal tip of the lateral malleolus, no pressure pain over syndesmosis or high fibula, muscles of the calf, medial malleolus, deltoid ligament or foot skeleton. Mobility limited due to pain, pronation still possible at approx. 5°, supination associated with pain, dorsal extension/plantar flexion approx. 10°, no wounds, no hematoma visible, peripheral circulation and sensitivity intact (motor function just restricted in the ankle joint). Not anticipated while creating the vignette: N/A Answers suspected not to be answered by the fictional patient: “Do you feel that your ankle is instable?” Number of symptom-related questions: 29 General app estimation (“next steps”): People with symptoms similar to yours may require emergency care. If you think this is an emergency you should go to an emergency department without delay. Suggested diagnoses: 1. Sprained ankle without ligament rupture (seek emergency care): 3 out of 10 people with these symptoms had this condition 2. Lateral malleolus fracture (seek emergency care): 2 out of 10 people with these symptoms had this condition 3. Lateral ligament rupture of the ankle (seek emergency care): 2 out of 10 people with these symptoms had this condition 4. Ankle fracture, not further specified (seek emergency care): 1 out of 10 people with these symptoms had this condition Note: N/A Case 3 Patient basic data: Peter P., male, dob 01.01.2001, (19 y/o), non-smoking, no treated hypertension, or diabetes. Symptom: Pain in left upper thigh Fictional diagnosis: Delayed onset of muscle soreness History: Yesterday the patient had gone on a long hike with friends in the mountains – for the first time in his life. The friends had walked about 15 km with each a 10 kg backpack on paved paths in hilly terrain. The patient sustained no trauma. He found the uphill climbs very tiring. His other sports activities have been limited to school sports and computer games. Movement is now hardly possible, he complains of strong pain (VAS 7) in the quadriceps muscles and the buttocks, and displays a strong limping gait. After a quiet night, he now woke up with the above-mentioned symptoms and decided to use the app since he is deeply concerned about this unknown condition. Examination results: No observed circumferential increase, pressure pain over the thigh muscles ventrally, not dorsally; pressure pain over the gluteal muscles; no discomfort in the lower leg or anywhere else in the body; only axial loading is possible. Active ROM in the hip and knee joint is limited due to the pain in the thigh; passive movement is possible with light stretching exercises. Peripheral circulation, motor function and sensitivity is intact, no wounds, no hematoma visible. Not anticipated while creating the vignette (and filled in while using the app in this trial): Feeling of heavy legs, no lumps under the skin of the thighs Answers suspected not to be answered by the fictional patient: N/A Number of symptom-related questions: 22 General app estimation (“next steps”): People with symptoms similar to yours can usually manage their symptoms safely at home. You could also seek advice by visiting or contacting your local pharmacy. If your symptoms persist longer than expected, if they get worse, or if you notice new symptoms, you should consult a doctor for further assessment and advice. Suggested diagnoses: 1. Delayed-onset muscle soreness of the lower extremity (can usually be managed at home): 5 out of 10 people with these symptoms had this condition 2. Quadriceps strain (can usually be managed at home): 2 out of 10 people with these symptoms had this condition Note: N/A Case 4 Patient basic data: Thomas T, male, dob 01.01.1994, (26 y/o), smoking, no treated hypertension, or diabetes. Symptom: Swollen knee Fictional diagnosis: ACL rupture with chronic instability History: The patient is an amateur soccer player. He does not engage in other sports, and besides soccer, he does not regularly run. Instead he primarily engages in resistance training of the upper body. About 5 months ago, he sustained a knee distortion trauma with pain during a soccer match shortly before the end of the season leading into the winter break. At that time, he also had swelling with pain in the knee, which improved after a few days of rest and sympathetic relief. He did not consult with a doctor, because the pain and swelling improved quickly. Having a good muscle status, he had no further complaints. For about 3 months, during winter break, he had paused playing soccer anyways and had not done any substitute running. He had no problems with his gait and was fine during his desk job and during leisure time. Only when he went down the stairs, he felt a slight instability in his knee and therefore preferred to hold on to the railing. But there were no real events of pain. Now, after resuming soccer, he sensed some instability during every weekend game, combined with pain in the knee joint (VAS 4–5), and swelling, which decreases after 3–4 days. After 5 days of symptomatic rest and almost no complaints, he talked with his friends about this annoying occurrence and how he was not sure of the cause. They suggested he use the app for getting some helpful information. Examination results: Normal gait, Zohlen sign negative, low effusion, no patella embracing pain, no overheating/redness, no pain on palpation over medial/lateral knee joint gap, the popliteal fossa or the tibial head, meniscus signs negative. Lachman test, anterior drawer test, pivot shift test positive; free ROM, peripheral circulation, motor function and sensitivity intact, thigh circumference (20 cm above the knee cap) ipsilateral reduced by 1 cm Not anticipated while creating the vignette (and filled in while using the app in this trial): No morning stiffness, no lumps under the skin behind the knee or over a joint, no shin pain, no calf pain Answers suspected not to be answered by the fictional patient: N/A Number of symptom-related questions: 30 General app estimation (“next steps”): People with symptoms similar to yours may require emergency care. If you think this is an emergency you should go to an emergency department without delay. Suggested diagnoses: 1. Knee bursitis (seek medical advice): 3 out of 10 people with these symptoms had this condition. 2. Anterior cruciate ligament injury (seek emergency care): 1 in 10 people with these symptoms had this condition. 3. Patellar tendinitis (can usually be managed at home): 8 out of 100 people with these symptoms had this condition. 4. Popliteal cyst (seek medical advice): 7 out of 100 people with these symptoms had this condition. 5. Tractus iliotibialis syndrome (can usually be managed at home): 4 out of 100 people with these symptoms had this condition. Note: The patient would have found it difficult to answer many of the questions because the symptoms questioned were no longer present at the time of the examination. Case 5 Patient basic data: Marc C., male, dob 01.01.1997, (23 y/o), smoker, no treated hypertension, or diabetes. Symptom: Headache Fictional diagnosis: Mild concussion (I°) History: During an amateur soccer game (summer, sunny, 26 °C), the patient jumped after the ball and bumped his head against the knee of an opponent player, 1 h ago. No unconsciousness, no vomiting. He notices slight dizziness, which would become worse when standing up or while walking. Leading symptom is a strong dull headache, especially in the area of impact on the back of the head. This area is also painful to the touch. Tilting the head forward intensifies the headache. This is accompanied by moderate nausea. Otherwise, however, the young patient is awake, actively talking and moving, oriented and responsive. No other symptoms reported. He had retreated to a cool room within the sports facility and had drunk moderate amounts of water. Since he still had complaints and was generally dazed, other players advised him to consult the app. Examination results: Patient awake, oriented and cooperative. Retrograde amnesia to the impact event itself; otherwise normal memory of the situation immediately before the trauma, the soccer game, and also the time after the trauma. Headache with painful pressure over the impact region at the back of the head, but no wounds or hematoma. While walking freely slight problems of balance were indicated, but no objective clear swaying, no nystagmus, no pain on pressure or other complaints in the facial region, no discharge from the ears. Visual acuity intact, no eye pain. Cervical and neck region freely movable without pain (also no complaints when moving against resistance). Not anticipated while creating the vignette (and filled in while using the app in this trial): No lumps under the skin on the scalp, no jerking movements of the whole body, no recent decrease in alcohol intake Answers suspected not to be answered by the fictional patient: N/A Number of symptom-related questions: 33 General app estimation (“next steps”): People with symptoms similar to yours may require emergency care. If you think this is an emergency the safest thing to do is call an ambulance. Suggested diagnoses: 1. Concussion (seek medical advice): 5 out of 10 people with these symptoms had this condition. 2. Acute subdural hematoma (seek emergency care): 1 out of 10 people with these symptoms had this condition. 3. Whiplash (seek medical advice): 3 out of 100 people with these symptoms had this condition. 4. Acute intracranial epidural hematoma (seek emergency care): 2 out of 100 people with these symptoms had this condition. 5. Skull fracture (seek emergency care): 1 out of 100 people with these symptoms had this condition. Note: A worsening of the condition, e.g. a clouding with slowly progressive brain swelling, could not necessarily be detected with the single app use.
| 3.841797
| 0.964844
|
sec[2]/p[0]
|
en
| 0.999996
|
33593428
|
https://doi.org/10.1186/s13102-021-00243-x
|
[
"pain",
"symptoms",
"people",
"condition",
"emergency",
"seek",
"symptom",
"care"
] |
[
{
"code": "MG3Z",
"title": "Pain, unspecified"
},
{
"code": "8E43.Z",
"title": "Pain disorders, unspecified"
},
{
"code": "MG31.Z",
"title": "Acute pain, unspecified"
},
{
"code": "MG30.Z",
"title": "Chronic pain, unspecified"
},
{
"code": "FB56.2",
"title": "Myalgia"
}
] |
═══ ICD-11 CLASSIFICATION ═══
【1. Pain, unspecified (MG3Z)】
Synonyms: pain observations | pain NOS | generalised pain | generalised pain, NOS | pain not referable to any one organ or body region
Hierarchy: General symptoms, signs or clinical findings → General symptoms → Pain → Pain, unspecified
【2. Pain disorders, unspecified (8E43.Z)】
Synonyms: Pain disorders
Hierarchy: Diseases of the nervous system (08) → Certain disorders of the nervous system → Pain disorders (8E43) → Pain disorders, unspecified
【3. Acute pain, unspecified (MG31.Z)】
Synonyms: Acute pain
Hierarchy: General symptoms → Pain → Acute pain (MG31) → Acute pain, unspecified
【4. Chronic pain, unspecified (MG30.Z)】
Synonyms: Chronic pain
Hierarchy: General symptoms → Pain → Chronic pain (MG30) → Chronic pain, unspecified
【5. Myalgia (FB56.2)】
Definition: This is a disorder characterised by pain in a muscle or group of muscles.
Synonyms: muscle ache | muscle soreness | muscular pain | myalgic | myodynia
Excludes: Chronic primary musculoskeletal pain | Chronic secondary musculoskeletal pain
Hierarchy: Soft tissue disorders → Miscellaneous specified soft tissue disorders → Specified soft tissue disorders, not elsewhere classified (FB56) → Myalgia
|
MG3Z
|
Pain, unspecified
|
A 46-year-old Japanese man without a remarkable medical history visited our hospital with chief complaints of fever, fatigue, generalized edema, and abdominal distention. His fever started two weeks prior to admission. Abdominal distention and edema gradually worsened, and he gained 7 kg of weight within two weeks, despite low food intake owing to loss of appetite. He denied previous episodes of infectious diseases. At initial presentation, he appeared exhausted. His vital signs were as follows: body temperature, 37.8 °C; blood pressure, 160/93 mmHg; heart rate, 109 beats/min; respiratory rate, 22 breathes/min; and oxygen saturation, 90% with room air. On physical examination, generalized pitting edema was observed. His heart sounds were normal, but his lung sounds were weak at the lung base on both sides. Jaundice was not observed, but a distended abdomen and hepatomegaly were observed. Blood test results on the day of admission revealed an elevated white blood cell (WBC) count (14,600/μL), mild anemia (hemoglobin level, 11.1 g/dL), thrombocytopenia (platelet count, 11.1 × 10 4 /μL), renal impairment (blood urea nitrogen level, 60.7 mg/dL and serum creatinine level, 2.94 mg/dL), an elevated C-reactive protein (CRP) level (14.25 mg/dL), an elevated ALP level (768 U/L), polyclonal hypergammaglobulinemia , and an elevated IgG4 level (235 mg/dL). Immunological screening test results for autoantibodies were negative, except for positive antinuclear antibody (× 40) and anti-SS-A antibody. Polymerase chain reaction for HHV-8 DNA in a serum sample was negative (Table 1 ). Computed tomography (CT) performed on the day of admission revealed massive pleural effusions and ascites, generalized mild lymphadenopathy (< 1.5 cm in diameter), and hepatosplenomegaly . Echocardiography performed on day 2 revealed normal wall motions without any sign of valvular disease, but a collapsed inferior vena cava was observed (maximum diameter < 5 mm). 18 F–fluorodeoxyglucose positron emission tomography (FDG-PET) revealed no apparent FDG uptake, except for slight uptake in the para-aortic lymph nodes . Considering the positive anti-SS-A antibody finding, lip biopsy was performed on day 6, but the pathological findings did not meet the criteria for Sjögren syndrome (SjS). On ophthalmological examination, keratoconjunctivitis was not observed; however, bilateral optic edema was remarkable . Serum IL-6 and plasma VEGF levels were assessed in a blood sample obtained on day 9, and both were elevated (25.2 pg/mL and 224 pg/mL, respectively). Abdominal paracentesis was performed on the same day, and the levels of IL-6 and vascular endothelial growth factor (VEGF) in ascites were remarkably high . Bone marrow examination was performed on day 9. Bone marrow aspiration was dry tap, and bone marrow biopsy revealed a mild increase in megakaryocytes and mild reticulin myelofibrosis on silver impregnation staining . Biopsy of a cervical lymph node was performed on day 10, and the pathological findings were compatible with a mixed-type MCD histology . We suspected TAFRO syndrome and methylprednisolone (mPSL) pulse therapy (500 mg/day for three consecutive days) was initiated on day 10 after lymph node biopsy, followed by intravenous PSL (40 mg/day) and oral CsA administration. The disease severity of TAFRO syndrome one day prior to treatment initiation was very severe (grade 5) . After the initiation of immunosuppressive treatment, the patient became afebrile and the CRP level returned to the normal range within two weeks. However, the patient’s platelet count and serum creatinine level as well as his overall condition did not improve, even after the initiation of immunosuppressive treatment . A central venous catheter was inserted and total parenteral nutrition was started as he could not eat owing to loss of appetite and refusal of tubal feeding. Diuretics, including furosemide, potassium canrenoate, trichlormethiazide, and tolvaptan were administered during hospitalization; however, the amount of ascites did not decrease . Urinalysis performed on day 25 revealed mild proteinuria (0.34 g/day) with a fractional excretion of sodium of 5.1% and a fractional excretion of urea nitrogen (FE UN ) of 20.7%. Because urinalysis was performed under diuretics use, considering FE UN level and intravascular hypovolemia on echography, intravenous fluid replacement was performed to correct the pre-renal factor responsible for renal impairment. However, the patient’s volume depletion and blood pressure did not respond well to intravenous fluid replacement. Abdominal paracentesis was again performed on day 40, and it revealed persistently high levels of IL-6 and VEGF . Although urine volume was initially preserved with diuretic administration, the patient became oliguric from day 47 and anuric from day 49. He was hemodynamically unstable on day 50 (body temperature, 37.5 °C; blood pressure, 84/52 mmHg; heart rate, 109 beats/min; respiratory rate, 24 breaths/min; oxygen saturation, 95% with room air). As the patient was undergoing immunosuppressive therapy and his CRP levels increased by 10.08 mg/dL on the same day, systemic examination was performed to rule out the possibility of infectious disease. Analysis of ascites was performed on the same day, revealing purulent ascites, and Escherichia coli was isolated. E. coli was also isolated from blood cultures. CT of the chest showed a mass in the right lung in addition to scattered appearance of high intensity regions in the myocardium, which were newly observed . Blood tests performed on day 50 revealed elevated β- d -glucan levels (23.0 pg/mL) and positive cytomegalovirus (CMV) antigenemia (41 cells/5 × 10 4 WBCs on the C7-HRP test). Aspergillus , Candida mannan , and Cryptococcus neoformans antigens were negative. We suspected bacterial peritonitis and fungal pneumonia. Intravenous meropenem, vancomycin, and caspofungin were initiated on the same day. Continuous renal replacement therapy (CRRT) using a polymethyl-methacrylate membrane was also initiated on the same day because anuria did not improve and the patient was hemodynamically unstable. Conditions of CRRT were as follows: mode, continuous hemodiafiltration; dialysis membrane, CH-1.8 W (Toray Medical Co., Ltd., Tokyo Japan); and anticoagulant, nafamostat mesilate. The blood, dialysate, substitute, and filtration flow rates were 100 mL/min, 400 mL/h, 400 mL/h, and 800 mL/h, respectively. Table 1 Laboratory findings of the present case Complete blood count Blood urea nitrogen 60.7 mg/dL Serum M protein Negative White blood cell 14,600 /μL Creatinine 2.94 mg/dL Platelet-associated IgG 238.0 ng/10 7 cells Neutrophil 84.6% C-reactive protein 14.25 mg/dL Anti-platelet Ab Negative Lymphocyte 9.4% β-D-glucan < 6.0 pg/mL Soluble IL-2 receptor 1120 U/mL Monocyte 5.6% Ferritin 419 ng/mL Direct Coombs test Negative Basophil 0.1% Serum iron 9 μg/dL Indirect Coombs test Negative Eosinophil 0.0% Total iron binding capacity 155 μg/dL IL-6 (serum, on day 9) 25.2 pg/mL Red blood cell 426 × 10 4 /μL Haptoglobin 268 mg/dL VEGF (plasma, on day 9) 224 pg/mL Hemoglobin 11.7 g/dL Thyroid stimulating hormone 6.4 μIU/ml IL-6 (ascites, on day 9) 3310 pg/mL Hematocrit 34.8% Free T3 1.4 pg/ml VEGF (ascites, on day 9) 335 pg/mL Reticulocyte 15‰ Free T4 1.1 ng/dl STS Negative Platelet 11.1 × 10 4 /μL BNP 61 pg/mL HBs Ag Negative IPF 10.9% CEA 0.5 U/mL HBs Ab Negatve Coagulation test CA19–9 5 ng/mL HBc Ab Negative APTT 45.3 s IgA 264 mg/dL HCV Ab Negative PT-INR 1.30 IgG 2461 mg/dL HIV Ab Negative Fibrinogen 479 mg/dL IgG4 235 mg/dL IFN-γ release assay Negative Blood chemistry and immunological tests IgM 88 mg/dL Helicobacter pylori IgG Negative Sodium 138 mEq/L ANA Positive (×40) CMV-IgG Positive Potassium 4.1 mEq/L RF 2 U/mL CMV-IgM Negative Chloride 101 mEq/L CH50 44.9 U/mL EBV VCA-IgG Ab Positive Calcium 8.1 mg/dL C3 50 mg/dL EBV VCA-IgM Ab Negative Total protein 6.4 g/dL C4 14 mg/dL EBNA Ab Positive Albumin 2.1 g/dL Anti-ds-DNA IgG Ab Negative HHV-8 DNA PCR Negative Total bilirubin 0.7 mg/dL PR3-ANCA Negative Bacterial cultures Asparate aminotransferase 28 U/L MPO-ANCA Negative Blood cultures Negative Alanine aminotransferase 12 U/L Anti-SS-A Ab > 1200 U/mL Ascitic fluid cultures Negative Lactate dehydrogenase 278 U/L Anti-SS-B Ab Negative Urine culture Negative Alkali phosphatase 768 U/L Anti-CL Ab Negative Urinalysis γ- glutamyltransferase 129 U/L Anti-CLβ 2 GPI Ab Negative Protein (1+) Amylase 50 U/L Anti-Scl-70 Ab Negative Occult blood (−) Creatine kinase 694 U/L Anti-RNP Ab Negative NAG 44.8 U/L Glucose 121 mg/dL Anti-Sm Ab Negative β2-MG 81 μg/L Hemoglobin A1c 5.3% Anti-mitochondrial M2 Ab Negative Granular casts 10–19 /WF Uric acid 15.1 mg/dL Anti-smooth muscle Ab Negative BJP Negative β2-MG β2-microglobulin. Ab antibody, ANA antinuclear antibody, APTT activated partial thromboplastin time, BJP Bence Jones protein BNP brain natriuretic peptide, C3 complement component 3, C4 complement component 4, CA 19–9 carbohydrate antigen 19–9, CEA carcinoembryonic antigen, CH50 50% hemolytic complement activity, CL cardiolipin, CMV cytomegalovirus, ds-DNA double stranded-DNA, EBNA Epstein-Barr virus-nuclear antigen, EBV Epstein-Barr virus, GPI glycoprotein I, HBc Ab hepatitis B core antibody, HBs Ag hepatitis B surface antigen, HCV hepatitis C virus, HHV-8 human herpes virus-8, HIV human immunodeficiency virus, IFN-γ interferon-γ, Ig immunoglobulin, IL interleukin, IPF immature platelet fraction, MPO myeloperoxidase, NAG N-acetyl-β-D-glucosaminidase, PCR polymerase chain reaction, PR3-ANCA proteinase-3-anti-neutrophil cytoplasmic antibody, PT-INR prothrombin time-international normalized ratio, RF rheumatoid factor, RNP ribonucleoprotein, Scl scleroderma, Sm Smith, SS Sjögren syndrome, STS serologic test for syphilis, T3 triiodothyronine, T4 thyroxin, TSH Thyroid stimulating hormone, VEGF vascular endothelial cell growth factor, VCA viral capsid antigen, WF whole field Fig. 1 Imaging findings. a – c Computed tomography images on the day of admission. a Massive pleural effusion and slightly enlarged axillary lymph nodes are observed (arrows). b Hepatosplenomegaly is seen. c Massive ascites and slightly enlarged para-aortic lymph nodes are observed (arrows). d 18 F–fluorodeoxy-glucose positron emission tomography (FDG-PET) images on day 8. Although the findings are poor (FDG uptake is generally weak), FDG uptake is observed in the para-aortic lymph nodes. e Funduscopic evaluation performed on day 10. Bilateral optic disk edema is remarkable. Roth’s spots are observed (arrows). Hemorrhage in the fundus of right eye is also observed Fig. 2 Pathological findings. a , b Pathological evaluation involving bone marrow biopsy in the present case performed on day 9. a Mild increased number of megakaryocytes is observed (hematoxylin and eosin [H&E] staining). b Mild reticulin myelofibrosis in bone marrow is observed (silver impregnation staining). c – h Pathological evaluation of the right neck lymph node in the present case. c , d Atrophic germinal center, vascular invasion with a glomerular-like pattern of vascular endothelial cell proliferation and hyalinization are observed in the follicles (H&E staining). e Dendric proliferation of arterioles and swelling of vascular endothelial cells are observed (H&E staining). f , g Invasion of plasma cells (CD38+) is observed in the intrafollicular space (immunohistochemical staining). h Immunoglobulin G (IgG) 4-positive plasma cells are observed (> 10 IgG4-positive plasma cells/high power field on immunohistochemical staining); however, the IgG4/IgG ratio is 24.2%, and it does not fulfill the criteria for IgG4-related disease (> 40%, data not shown). Human herpesvirus 8 is negative on immunohistochemical staining, and the Epstein-Barr virus-encoded small RNA in situ hybridization is negative in the lymph node (data not shown). These findings are compatible with mixed-type multicentric Castleman disease-like histology Fig. 3 Clinical course of the present case. a , b The patient became afebrile after pulse methylprednisolone therapy. The C-reactive protein (CRP) level decreased to within the normal range with combination therapy involving intravenous glucocorticoid and oral cyclosporine A. However, despite the treatment, the amount of ascites increased gradually and renal impairment did not improve. The CRP and serum creatinine levels were elevated on day 50, and complicated infection was suspected. After the initiation of continuous renal replacement therapy, the patient experienced cardiac arrest on the same day because of myocardial infarction. Despite intensive care, including antibiotics therapy and continuous hemodiafiltration, the patient died on day 52. BT body temperature, Cre creatinine, CRP C-reactive protein, CRRT continuous renal replacement therapy, CsA cyclosporine A, MAP mean arterial pressure, mPSL methylprednisolone, Plt platelet Fig. 4 Imaging and assessments after treatment. a Computed tomography (CT) images of the chest on day 50. Pleural effusion resolved, but a mass lesion (arrows) is newly observed. b – d CT images of the heart on days 31, 48, and 50. Scattered appearance of high intensity is gradually seen in the cardiac wall. CT performed on day 31 shows no remarkable finding in the myocardium. However, high intensity gradually became apparent on CT images obtained on days 48 and 50 (arrows). e – g Electrocardiogram performed after recovery of spontaneous circulation and coronary angiography (CAG) results on day 50. e ST elevations are observed at leads V2–5 and aVL. Reciprocal changes are observed at leads I, II, and aVF on electrocardiography. f CAG shows complete occlusion of the left descending coronary artery (arrows). g After percutaneous old balloon angioplasty, reperfusion of blood flow is achieved
| 4.039063
| 0.974121
|
sec[1]/p[0]
|
en
| 0.999998
|
34171004
|
https://doi.org/10.1186/s41100-018-0157-8
|
[
"blood",
"anti",
"level",
"ascites",
"serum",
"protein",
"lymph",
"staining"
] |
[
{
"code": "3C0Z",
"title": "Diseases of the blood or blood-forming organs, unspecified"
},
{
"code": "MF50.4Z",
"title": "Haematuria, unspecified"
},
{
"code": "MA12.1",
"title": "Finding of cocaine in blood"
},
{
"code": "MA12.4",
"title": "Finding of steroid agent in blood"
},
{
"code": "MA12.2",
"title": "Finding of hallucinogen in blood"
}
] |
═══ ICD-11 CLASSIFICATION ═══
【1. Diseases of the blood or blood-forming organs, unspecified (3C0Z)】
Synonyms: Blood, lymph or spleen disease | blood condition NOS | blood disorder NOS | bone marrow disease NOS | haematologic disease NOS
Hierarchy: Diseases of the blood or blood-forming organs (03) → Diseases of the blood or blood-forming organs, unspecified
【2. Haematuria, unspecified (MF50.4Z)】
Synonyms: Haematuria | blood in urine | urinary blood | haematuria NOS | urinary tract haemorrhage NOS
Hierarchy: Symptoms, signs or clinical findings involving the urinary system → Abnormal micturition (MF50) → Haematuria (MF50.4) → Haematuria, unspecified
【3. Finding of cocaine in blood (MA12.1)】
Synonyms: cocaine in blood
Hierarchy: Symptoms, signs or clinical findings of blood, blood-forming organs, or the immune system → Clinical findings in blood, blood-forming organs, or the immune system → Clinical findings of drugs, medicaments and biological substances in blood, blood-forming organs, or the immune system (MA12) → Finding of cocaine in blood
【4. Finding of steroid agent in blood (MA12.4)】
Synonyms: steroid in blood
Hierarchy: Symptoms, signs or clinical findings of blood, blood-forming organs, or the immune system → Clinical findings in blood, blood-forming organs, or the immune system → Clinical findings of drugs, medicaments and biological substances in blood, blood-forming organs, or the immune system (MA12) → Finding of steroid agent in blood
【5. Finding of hallucinogen in blood (MA12.2)】
Synonyms: hallucinogen in blood
Hierarchy: Symptoms, signs or clinical findings of blood, blood-forming organs, or the immune system → Clinical findings in blood, blood-forming organs, or the immune system → Clinical findings of drugs, medicaments and biological substances in blood, blood-forming organs, or the immune system (MA12) → Finding of hallucinogen in blood
|
3C0Z
|
Diseases of the blood or blood-forming organs, unspecified
|
Following the CARE Guidelines, a six-year-old Sudanese female child presented to the emergency department (ED) with a history of an uprolling eye for two minutes. The mother is a 45 year old housewife, and the father is a 55 year old. She has one sister and four brothers, and all are healthy. Negative history of parents’ consanguinity. The mother was following up during her pregnancy with no history of either passive or active smoking, no history of diabetes mellitus (DM) or hypertension, and no history of using any medications. Prenatal, natal, and post-natal care was given. The child is a product of full-term, spontaneous vaginal delivery (SVD) with a birth weight of 4.5 kg, discharged with the mother in good conditions. At five months, the mother noticed head enlargement and sought medical advice. She was diagnosed with obstructive hydrocephalus with lateral ventricular choroid plexus papilloma underwent resection at the age of six months in our center’s neurosurgery department. Postoperative computed tomography (CT) included frontal craniotomy and large extra-axial pneumocephalus with large frontal air-fluid levels causing a mass effect on the brain more dominant in the left hemisphere. A previously noted large cauliflower-like mass in the left ventricle has been resected with multiple small hyperdense masses that could represent residual. Hyperdense area anteriorly within the fluid on the left extra-axial space and another adjacent to the left parietal-temporal lobe most likely representing postoperative hemorrhage. No Acute intra-axial hemorrhage. No acute ischemic insult. Less dilatation of ventricular system as compared to the previous imaging. Periventricular hypodensity likely related to spontaneous fracture (SF) permeation was noted again. A small intraventricular hemorrhage is noted with air in both temporal horns. Cystic area in the posterior fossa communicating with the fourth ventricle with no mass effect consistent with mega cisterna magna. External ventricular drain (EVD) tip was noted in the anterior left lateral ventricle with a right frontal approach. Left frontoparietal-temporal subcutaneous swelling and air are associated with two fractures of the left parietal bone. The patient underwent her first magnetic resonance imaging (MRI) postoperatively. Multiple axial, sagittal, and coronal sequences of the brain with and without IV contrast were used. With no previous MRI examinations available for comparison, a comparison was made with the last examination, a CT study that revealed marked irregular supratentorial ventricular dilatation, which is increased. No MRI evidence of residual or recurrent neoplastic tissue. Diffuse pachymeningeal enhancement is most likely related to meningeal irritation and not due to leptomeningeal metastasis. Left parietal brain gliosis related to previous operative interference. It is still seen as bilateral subdural fluid; however, it is less than seen in the previous examination. No midline shift, no mass effect, no intraventricular hemorrhage and no other significant abnormality was identified. Moreover, at the age of four-year-old, she developed a seizure in the form of focal eye movement. She started on Keppra, requiring pediatric intensive care unit (PICU) admission once last year as a case of status epilepticus. Regarding her current ED visit, the patient was in her usual state of health until 9:30 AM, when she started to have abnormal uprolling eye movements while being fully awake during the episode with normal limb movement and communicating with her mother. The first episode aborted by itself. Furthermore, according to her legal guardian, the patient experienced multiple attacks of vomiting with food content, not projectile. Upon arrival in the ED, she developed another attack with desatting to 70% in room air. However, the second episode aborted after administering diazepam (20 mg/kg). The patient was vitally stable, drowsy, and communicating with her legal guardian. CT did not reveal significant or acute changes or other interval changes besides the previously resected brain tumor, which resulted in dilated lateral ventricles compared to her right ventricles. On physical examination, her pupils were equally reactive to light, she was hypotonic in the right upper limb with normal tone in other limbs, and had hyperreflexia and negative clonus and a negative Babinski sign (plantar reflex). The requested tests included complete blood count (CBC), urea and electrolytes (U&E), and bone function, where they were all within normal range. The case was discussed with a pediatric neurology consultant, and she started on Keppra 30 mg/kg/day divided twice a day (BID) with follow-up in the clinic. The patient was discharged once fully awake. A week later, the patient followed up on her seizure, where she only had four attacks in a previous couple of years in the form of a complex partial seizure. She remained on Keppra with the same dosage and was discharged. Ten days later, she presented to the ED complaining of a seizure lasting for ten minutes with eyes deviating to the left side, according to her legal guardian. The patient presented in post-ictal status in the ED with no significant systematic findings. She was vitally stable with a triage category three until she suddenly deteriorated to 80% in room air, respiratory rate (RR) 12 breaths per minute (BPM), heart rate (HR) 114 with on and off eye deviation to the right side. However, her pupils were three mm reactive to light. The patient, however, was shifted to the resuscitation room and connected to oxygen, and given intravenous (IV) diazepam of six mg (0.2 mg/kg). The patient was well hydrated, with shallow breathing with no added sounds or heart murmurs, and the abdomen was soft and lax with no tenderness or organomegaly. Ambu bagging was initiated, and PICU was contacted for further profound care. During the time, the patient’s pupils were bilaterally equal and reactive to light and maintaining oxygen saturation at 100%. Upon PICU team arrival, the patient developed generalized clonic status epilepticus, code announced, and then the patient was intubated for one day only. Phenytoin and Keppra were given in a loading dose, then started on midazolam infusion of 1 mg/kg/hr and fentanyl as sedation until she was extubated 24 hours later. The patient was stabilized and transferred to the PICU. She did not experience any epileptic seizures and was sleepy. On the next morning (7 AM), the patient entered a state of metabolic acidosis resulting in intervening with four plus 10/kg of Lasix (furosemide) in addition to vancomycin for two doses before discontinuing it. On the next day, the patient was transferred to the medical ward. On the fourth day of the recent admission, the patient’s vitals were as follows: body temperature (Temp.) 36.5, heart rate (HR) 86, oxygen saturation (SaO 2 ) 99% at room air, and blood pressure (BP) 99/50. Body weight (BW) was 30 kg and height (Ht.) 138 cm. No distress or complaints, according to her legal guardian. Upon central nervous examination, she was Keppra 40 mg/kg/day BID, conscious and alert, right-sided weakness with hyperreflexia, normal tone and power on the left side, pupil bilaterally equal and reactive to light, and no meningeal signs. She was hemodynamically stable with no systemic manifestations. On her follow-up with the infectious disease (ID) department, she started to receive ceftriaxone-D3 and vancomycin. C-reactive protein (CRP) was initially three mg/L, then repeated where it was 17.4 mg/L. She was discharged with culture pending, and neurological stabilization was achieved. Nine months later, the patient became seven-year-old, and she returned to the neurological clinic after her legal guardian noticed a developmental delay in the child. The last seizure episode was two months earlier after she had another episode nine months earlier. During this visit, she was conscious of the normal motor exam. However, she was diagnosed with hydrocephalus and developmental delay. A plan to increase Keppra dosage to seven ml BID was made and titrated to eight ml if seizures are not controlled. She was discharged and returned six months later to conduct a developmental assessment as she became an eight-year-old. Her developmental history started with expressive language assessment: At an early age, around two-to four, she requested things by using the other hand with no eye contact and no joint attention. She started to talk at the age of four years with few words MAMA and BABA were unspecific, then she started to improve at the age of six years after enrolment in speech session in a specialized center, at that time till now she can say three words sentences mainly order with no eye contact and no joint attention, and she still cannot run conversions. She cannot answer only specific simple questions and only her mother when she repeats them many times. Receptive assessment: The patient only obeys simple commands. She can sometimes obey two steps for specific things that she likes (go to bring an orange, clean it, and cut it Into pieces). Sometimes she repeats other words (Echolalia). Socially, she initiates playing with younger children. She likes no specific toys, only she likes to run, scream, and produce unspecific voices, and sometimes she expresses playing by hitting the younger children. Routine and sensory: According to the mother, she used to flap with her hand at the age of one-two years which disappeared at the age of four years, and currently no specific repetitive pattern. She likes specific clothes, and when she does not find them, she cries. Other sensory fields, including visual, hearing, and taste, were unremarkable. Emotionally: She does not understand others’ emotions. When she sees others crying, she usually laughs. Cognitively: She does not understand the concept of danger. She usually runs in the street with no sense of fear of cars or being cautious. Sleep: She sleeps for roughly eight hours from 1:00 AM till 10:00 AM, with no interruption and no nap. Media: She likes mobile most of the time. She likes to watch and listen to music. School: She started rehabilitation and mainly physiotherapy for the motor aspect as early as two years. Then at the age of four, she started speech and behavior modification sessions in a specialized center. She quit the rehabilitation center for more than one year because the family had traveled to Sudan. On physical examination, her weight was 37 kg, height 138.6 cm, all in the 95th percentile, and head circumference 57 cm above the 95th percentile. Her vitals were Temp. 37, HR 85, RR 22, BP 90/53, SaO 2 100% at room air. Her laboratory work was as follow: white blood cell (WBC) count 8.02 k/μl (reference range: 4-11 k/μl), red blood cell (RBC) count 3.99 M/μl (reference range: 4.8-6.4 M/μl), hemoglobin (Hb) 10.6 g/dl (reference range: 13-17 g/dl), hematocrit (HCT) 31.8% (reference range: 41%-50%), mean cell volume (MCV) 79.7 fl (reference range: 76-92 fl), platelet (PLT) count 235 k/μl (reference range: 150-450 k/μl), prothrombin time (PT) 12.4 seconds (reference range: 11.7-15.3 seconds), activated partial thromboplastin time (APTT) 28.1 seconds (reference range: 28.9-38.1 seconds), and international normalized ratio (INR) 1.11 seconds (reference range: 0.89-1.18 seconds). On clinical observations, she looked well, with no dysmorphic features, no eye contact, and sat at the clinic’s beginning, calm, watching online videos. However, after 30 minutes, she started to clean her hand around five times, then after 45 minutes, she started to scream and produce nonspecific sounds. She does not like to draw or use any toys in the clinic. She is only interested in mobile phones, and when her sister took them from her, she cried and hit her sister. No systematic findings. However, her current presentation was consistent with Autism Spectrum Disorder (ASD). Her 8th and most recent CT scan redemonstrated a dilatation of the supratentorial ventricular system, with stable porencephalic cystic changes adjacent to the left lateral ventricle. Preserved gray-white matter differentiation. No extra/intra-axial hemorrhage or herniation. The posterior fossa structures are unremarkable. The visualized osseous and orbital structures are unremarkable. The paranasal sinuses and mastoid air cells are well aerated. In conclusion, her imaging work-up displayed a stable appearance, without acute findings or other interval changes. Her second MRI imaging, which used a non-enhanced sagittal T1W, axial T2W, FLAIR, DW, GE, SW, and coronal T2W images of the brain, were obtained with axial, sagittal, and coronal T1W after IV contrast administration. A comparison was made based on her previous MRI. Findings included ventricular enlargement and irregularity of the left lateral ventricle are stable in appearance. Cystic structure communicating with the left lateral ventricle is also unchanged. A small amount of periventricular increased signal in the left dorsal thalamus is unchanged. No new enhancing ventricular or parenchymal lesions. Near complete resolution of the left frontal subdural hematoma with a small residual right frontal subdural collection remaining, measuring a maximum of three mm on the axial plane. She was on keppra (levetiracetam) 100 mg/mL, oral solution 300 mt, phenytoin Na 250 mg/5 mL ampule, and carbamazepine 200 mg tablets. Her management plan included extensive speech and behavior modification sessions through enrollment into rehabilitation centers and encouraging the family to be part of behavior modifications and follow-up after six months.
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sec[1]/sec[0]/p[1]
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en
| 0.999997
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PMC10622857
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https://doi.org/10.12688/f1000research.122349.1
|
[
"range",
"reference",
"four",
"axial",
"mother",
"ventricular",
"keppra",
"ventricle"
] |
[
{
"code": "QA00.6Y",
"title": "Other specified examination of eyes or vision"
},
{
"code": "4B00.0Z",
"title": "Neutropaenia, unspecified"
},
{
"code": "3B63.1Z",
"title": "Acquired thrombocytosis, unspecified"
},
{
"code": "MA14.1C",
"title": "Raised antibody titre"
},
{
"code": "BD11.1",
"title": "Left ventricular failure with mid range ejection fraction"
}
] |
═══ ICD-11 CLASSIFICATION ═══
【1. Other specified examination of eyes or vision (QA00.6Y)】
Synonyms: No Impairment of Contrast vision | Normal colour vision | No Impairment of Dark adaptation | No diplopia | No visual spatial neglect
Hierarchy: Contact with health services for purposes of examination or investigation → General examination or investigation of persons without complaint or reported diagnosis (QA00) → Examination of eyes or vision (QA00.6) → Other specified examination of eyes or vision
【2. Neutropaenia, unspecified (4B00.0Z)】
Synonyms: Neutropenia | Disorders with decreased neutrophil counts | neutropaenic disorder | neutrophil count below reference range | absence of neutrophils
Hierarchy: Immune system disorders involving white cell lineages → Disorders of neutrophil number (4B00) → Neutropenia (4B00.0) → Neutropaenia, unspecified
【3. Acquired thrombocytosis, unspecified (3B63.1Z)】
Synonyms: Acquired thrombocytosis | Idiopathic haemorrhagic thrombocythaemia | Essential thrombocythaemia | primary haemorrhagic thrombocythaemia | idiopathic thrombocythaemia
Hierarchy: Coagulation defects, purpura or other haemorrhagic or related conditions → Thrombocytosis (3B63) → Acquired thrombocytosis (3B63.1) → Acquired thrombocytosis, unspecified
【4. Raised antibody titre (MA14.1C)】
Synonyms: antibody titre above reference range | high antibody titre | increased antibody titre
Excludes: isoimmunization, in pregnancy affecting fetus or newborn
Hierarchy: Clinical findings in blood, blood-forming organs, or the immune system → Immunological findings in blood, blood-forming organs, or the immune system (MA14) → Certain specified immunological findings (MA14.1) → Raised antibody titre
【5. Left ventricular failure with mid range ejection fraction (BD11.1)】
Synonyms: HFmEF - [heart failure with mid range ejection fraction] | Left ventricular failure with mid range ejection fraction due to cardiomyopathy | Left ventricular failure with mid range ejection fraction due to coronary artery disease | Left ventricular failure with mid range ejection fraction due to myocarditis | Left ventricular failure with mid range ejection fraction due to other disorders
Hierarchy: Diseases of the circulatory system (11) → Heart failure → Left ventricular failure (BD11) → Left ventricular failure with mid range ejection fraction
|
QA00.6Y
|
Other specified examination of eyes or vision
|
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