نتایج جستجو برای: congenital generalized lipodystrophy
تعداد نتایج: 286938 فیلتر نتایج به سال:
Proteinuric renal disease is prevalent in congenital or acquired forms of generalized lipodystrophy. In contrast, an association between familial partial lipodystrophy (FPLD) and renal disease has been documented in very few cases. A 22-year-old female patient presented with impaired glucose tolerance, hyperinsulinemia, hirsutism and oligomenorrhea. On examination, there was partial loss of sub...
OBJECTIVE Lipodystrophies are categorized by the extent of fat loss (generalized vs. partial) and by inheritance (congenital vs. acquired). We examined whether a group of patients with partial lipodystrophy of the limbs (PLL), type 2 diabetes mellitus (T2DM), and an absence of a family history of lipodystrophy constitute a new clinical subtype. RESEARCH DESIGN AND METHODS Ten women with T2DM ...
Congenital generalized lipodystrophy (CGL, Berardinelli-Seip syndrome) is a rare autosomal recessive disorder with a clinical presentation of paucity of adipose tissue, muscular hypertrophy, organomegaly, and insulin-resistant diabetes. A 4-month-old Taiwanese female infant had hepatosplenomegaly and low body weight gain despite a voracious appetite. Hypermetabolism, hyperhidrosis, loss of subc...
OBJECTIVE Congenital generalized lipodystrophy (CGL) is an autosomal recessive genetic disorder characterized by almost complete absence of adipose tissue, muscular appearance, and severe insulin resistance since birth. We investigated whether insulin resistance in CGL patients is associated with abnormal muscle morphology and whether increased muscularity imparts increased muscle strength and ...
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Recently, mutations in 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) and Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) genes were reported in pedigrees linked to chromosomes 9q34 and 11q13, respectively. There are limited data re...
Caveolae are small membrane invaginations found in vertebrates. Cavin-1 protein is essential for the homeostasis of caveolae. The frameshift mutation (p.Glu176Argfs) cavin-1 leads to physically debilitating condition known as congenital generalized lipodystrophy (CGL). Here we examined leucine zipper domain 2 (LZD2) and its CGL variant potential gain function through interaction with model memb...
Marrow adipose tissue (MAT) accumulates in diverse clinical conditions but remains poorly understood. Here we show region-specific variation in MAT adipocyte development, regulation, size, lipid composition, gene expression and genetic determinants. Early MAT formation in mice is conserved, whereas later development is strain dependent. Proximal, but not distal tibial, MAT is lost with 21-day c...
http://dx.doi.org/10.1590/S1806-37132014000500001 from various Brazilian states (all of whom were dear friends of Tarantino’s) and had the striking characteristic of being thorough and profound without ever abandoning a practical discourse. Tarantino used to say that he had to be able to communicate with physicians anywhere in Brazil, even in the most remote parts of the country. His book (whic...
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