Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0344329 (collapse)
 28,634 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Seven year child, who had intussusception 4 month before, readmitted for fever and walking difficulty. On examination, child had mild pallor and kyphosis of the spine but no organomegaly, lymphadenopathy or bone pain . Further evaluation revealed hypercalcemia, diffuse osteoporosis with vertebral fracture. Peripheral smear showed no blasts or pancytopenia. Bone marrow aspiration turned out to be a pre B cell ALL. This child had many atypical presentations like intussusception, osteoporosis, vertebral collapse and hypercalcemia without any classical features of ALL.
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PMID:Atypical Presentation of Acute Lymphoblastic Leukemia in a 7 Year Old Child. 2740 44

A 26year old east African professional athlete presented to the obstetric clinic for a routine visit at 36 weeks gestation. She had a history of Right Ventricular Outflow Tract - Ventricular Tachycardia (RVOT-VT) with an episode of cardiac arrest in the past, and had been treated with ablation 4 years earlier. Her current visit was uneventful, her pregnancy progressing normally. Following the visit she went to a local restaurant where she suffered a cardiac arrest that was unresponsive to therapy. Chest compressions were continued from the time of her collapse until an emergency caesarian section was performed, delivering a healthy female infant. At autopsy a focal area of subtle pallor and myocardial thinning was present at the apex of the right ventricle. Histology showed myocyte degeneration and loss with focal full thickness replacement of myocardium by adipose tissue, consistent with the fatty form of arrhythmogenic right ventricular cardiomyopathy (ARVC). Molecular studies revealed a variant of unknown significance in the MYBPC3 gene, but no variant known to be associated with ARVC. In view of the subtlety of the lesion on gross examination this diagnosis could have been easily missed, emphasizing the importance of performing histologic examination of subtle gross cardiac lesions.
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PMID:Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) in a young female athlete at 36 weeks gestation: a case report. 2884 47


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