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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Drepanocytosis is one of the qualitative hemoglobinopathies which are the most widespread in the word. In a retrospective study on 16 drepanocytary patients observed at the Bordeaux Children's hospital, 7 patients showed medullar hyperplasia, 10 patients showed vaso-occlusive, and 4 patients showed infections. Medullar hyperplasia: bone demineralisation was the current appearance (47%), cortical thinning down (40.5%). They touch long bone. Thrombosis: bone demineralisation was the current appearance (86.3%) and touch long bone, 1 first appearance right femoral head infarct. Some particular appearances we found. 2 cases of "hand foot syndrome", 1 case ischemic aseptic arthritis and 1 case of vertebra "step staircase". Three salmonella pandiaphysite and 1 tuberculosis spondylodiscite were observed. The authors analyse the major radiological appearances of this hemoglobinopathy and recall the interest in knowing this disease even in low endemicity countries.
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PMID:[Contribution of medical imaging in osteoarticular manifestations of sickle cell anemia in the child]. 1079 85

The authors present the first case of central retinal artery occlusion (CRAO) resulting from moyamoya syndrome secondary to Southampton hemoglobinopathy. A 12-year-old Hispanic girl with a history of Southampton hemoglobinopathy with moyamoya syndrome presented with amaurosis fugax in her left eye that resolved within hours except for an inferior paracentral scotoma. She had left ophthalmic artery occlusion on magnetic resonance angiogram. Seven months later, spectral-domain optical coherence tomography showed diffuse inner retinal thinning. She was diagnosed with transient CRAO. The authors conclude that CRAO can result from moyamoya syndrome secondary to an underlying hemoglobinopathy. Multimodal imaging demonstrated residual inner retinal injury despite reperfusion. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e166-e170.].
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PMID:CRAO in Moyamoya Syndrome Associated With Southampton Hemoglobinopathy. 3110 Jan 71