نتایج جستجو برای: seip lypodystrophy
تعداد نتایج: 181 فیلتر نتایج به سال:
Human lipodystrophies represent a group of diseases characterized by altered body fat amount and/or repartition and major metabolic alterations with insulin resistance leading to diabetic complications and increased cardiovascular and hepatic risk. Genetic forms of lipodystrophies are rare. Congenital generalized lipodystrophy or Berardinelli-Seip syndrome, autosomal recessive, is characterized...
Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is the most severe form of human lipodystrophy, characterized by an almost complete loss of adipose tissue and severe insulin resistance. BSCL2 is caused by loss-of-function mutations in the BSCL2/SEIPIN gene, which is upregulated during adipogenesis and abundantly expressed in the adipose tissue. The physiological function of SEIPIN in ...
Distal hereditary motor neuropathy (HMN) is a clinically and genetically heterogeneous group of disorders affecting spinal alpha-motor neurons. Since 2001, mutations in six different genes have been identified for autosomal dominant distal HMN; glycyl-tRNA synthetase (GARS), dynactin 1 (DCTN1), small heat shock 27 kDa protein 1 (HSPB1), small heat shock 22 kDa protein 8 (HSPB8), Berardinelli-Se...
The author has previously shown that a sequence in the unit disk is a zero sequence for the Bergman space A if and only if a certain weighted L space contains a non-zero (equivalently, zero-free) analytic function. The weight in question is given by a simple formula summed over the zero set. Here we show that a sequence in the unit disk is an interpolating sequence for A if and only if it is se...
Silver syndrome is a rare autosomal dominant neurodegenerative disorder characterized by marked amyotrophy and weakness of small hand muscles and spasticity in the lower limbs. The locus for Silver syndrome (SPG17) was assigned to a 13 cM region on chromosome 11q12-q14 in a single large pedigree. We recently found heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2, ...
conclusions metabolic abnormalities in bscl may prove fatal necessitating optimal therapeutic and preventive measures. patients are advised low fat diet with enhanced physical activities. other treatments include metformin, n-3 polyunsaturated fatty acids and leptin replacement for correction of metabolic complications. we report this case of bscl in view of its rarity. case presentation an 18 ...
Virgínia Oliveira Fernandes, Ana Paula Dias Rangel Montenegro, Clarisse Mourão Melo Ponte, Lia Beatriz de Azevedo Souza Karbage, Manuela Montenegro Dias de Carvalho, Daniel Duarte Gadelha, Synara Cavalcante Lopes, Marivaldo Loyola Aragão, Ana Paula Abreu Martins Sales, Cristiane Bezerra Rocha Liberato, Ana Gardênia Liberato Ponte Farias, Catarina Brasil D’Alva, Francisco Herlânio Costa Carvalho...
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