The lipodystrophy syndrome
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چکیده
HIV-associated lipodystrophy includes both clinical as well as metabolic alterations. The most prominent clinical sign is a loss of subcutaneous fat (lipoatrophy) in the face (periorbital, temporal), limbs and buttocks. Peripheral fat loss can be accompanied by an accumulation of visceral fat. Truncal fat increases initially after therapy and then remains stable resulting in relative central adiposity. Fat accumulation may also be found as dorsocervical fat pads (‘buffalo hump’) within muscles and the liver.
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Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient
Background: Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing. Methods: The proband showed a gener...
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A female one month old with features supporting a diagnosis of neonatal progeroid syndrome(WRS) presented to our neonatology section of GB pant children hospital Srinagar .she had prenatal and post natal growth failure, generalized lipotrophy, triangular face, psedohydrocephalous, sparse scalp hair and eye brows, prominent scalp veins and greatly widened anterior fontenella.
متن کاملبررسی فراوانی دیستروفی چربی ناشی از انسولین نوترکیب انسانی
Background and Purpose: Lipodystrophy is potentially a clinical adverse effect, associated with insulin therapy and is believed that usage of human recombinant insulin’s is associated with decreasing prevalence of Lipodystrophy. The objective of this study was to determine the prevalence of insulin induced Lipodystrophy, among diabetic out-patients referred to Imam Khomeini Hospital, in Sari ...
متن کاملTitle: Impact of Lipodystrophy on the Prevalence and Components of Metabolic Syndrome in HIV-infected patients Running title: HIV-Lipodystrophy and Metabolic Syndrome
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Partial lipodystrophy is known to be associated with mesangiocapillary glomerulonephritis. A case is described of a possible association of partial lipodystrophy with anti-GBM nephritis (Goodpasture's syndrome).
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