Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 27-month-old patient with SOArab hemoglobinopathy complicated by purpura fulminants was studied with 99mTc-pyrophosphate. The study showed an absence of radiotracer in the bones of both feet and the distal portions of both hands, along with an increased concentration of radiotracer proximal to the regions of absent radiotracer. Subsequent amputation of the distal portions of all four extremities was necessary because of dry gangrene. The amputation site in each extremity (selected on clinical grounds only) corresponded closely to the junction of absent and increased bone radiotracer, suggesting that bone imaging may be used as an aid in determining the extent of nonviable tissue in similar patients.
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PMID:Delineation of peripheral bone infarcts in a child with a rare hemoglobinopathy (SOArab) and purpura fulminans: case report. 18 69

Pythium infection (pythiosis) in humans has not previously been described, even in areas endemic for animal pythiosis. We report five patients with a unique presentation of fungal arteritis. The medium- to large-sized arteries were involved, and in some cases this involvement led to gangrene of the limbs, aneurysm formation, and ultimately fatal arterial leakage. All five patients were farmers. All patients, with the possible exception of one who had hemoglobin typing performed after receiving a blood transfusion, had thalassemia hemoglobinopathy syndrome. Fungal isolation was difficult. Amphotericin B treatment seemed to be ineffective. Radical surgical removal of infected tissues and oral administration of a saturated solution of potassium iodide are proposed therapy. In the tropics, where Pythium is ubiquitous, one should actively look for this fungal infection in patients with unexplained arterial occlusion, especially in the case of patients with thalassemia hemoglobinopathy syndrome.
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PMID:Human pythiosis associated with thalassemia hemoglobinopathy syndrome. 264 70