familial partial lipodystrophy
Dipeptidyl peptidase-4 levels are increased and partially related to body fat distribution in patients with familial partial lipodystrophy type 2
... Objective: The aim of this study was to evaluate DPP4 levels in patients with familial partial lipodystrophy type 2 (FPLD2) and correlate it with body fat distribution.. Methods: Fo[r] ...
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Case Report Familial partial lipodystrophy with gene mutation in both LMNA and PPARG : report of a case and review of literature
... (partial lipodystrophy) or generalized by the extent of fat loss ...3]. Familial partial lipodystrophy (FPLD) is often associat- ed with fataccumulation innonatrophic ...
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Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl
... The molecular background of lipodystrophy in our patient is the LMNA gene defect: R482W (p.Arg482Trp) mutation which has been described as a pathogenic vari- ant responsible for FPLD 2. The first reported FPLD ...
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Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy
... Lipodystrophies are rare disorders characterized by selective loss of body fat and predisposition to meta- bolic complications of insulin resistance, such as diabetes, hyperlipidemia, and hepatic steatosis (1). In the ...
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Evaluation of the hypothalamic–pituitary–adrenal axis in a case series of familial partial lipodystrophy
... FPL: familial partial lipodystrophy; HBP: high blood pressure; HOMA-IR: homeostatic model assessment of insulin resistance; HPA: hypothalamic–pituitary–adrenal axis; HPLC: high-performance liquid ...
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The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature
... Familial partial lipodystrophy (FPLD) is characterized by loss of subcutaneous fat from the extremities and the ...of partial lipodystrophy around ...
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<p>Familial Partial Lipodystrophy (FPLD): Recent Insights</p>
... by partial or generalized loss of adipose tissue. Familial partial lipodystrophy (FPLD) presents with genetic and phenotypic variability with insulin resistance, hypertrigly- ceridemia and ...
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Evaluation of epicardial adipose tissue in familial partial lipodystrophy
... type Familial Partial Lipodystrophy (FPLD) is characterized by loss of subcutaneous fat from the limbs and excessive accumulation on the visceral adipose tissue ...
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Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation
... FPLD: Familial Partial Lipodystrophy; FPLD2: Dunnigan-type Familial Partial Lipodystrophy; FLPD1: Kobberling-type Familial Partial Lipodystrophy; FPLD3: ...
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Endoplasmic reticulum stress activation in adipose tissue induces metabolic syndrome in individuals with familial partial lipodystrophy of the Dunnigan type
... The Familial partial lipodystrophy of the Dunnigan type (FPLD) is the most common and well character- ized genotype–phenotype between hereditary forms of lipodystrophy, it is associated with ...
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Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation
... generalized lipodystrophy. In contrast, an association between familial partial lipodystrophy (FPLD) and renal disease has been documented in very few ...was partial loss of ...
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Pancreatic fat deposition is increased and related to beta-cell function in women with familial partial lipodystrophy
... The expandability hypothesis suggests that a relative incapacity of adipose tissue to expand, and therefore store lipids, would cause excess fat to be stored in non- adipose tissues such as the liver and muscle, causing ...
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Dunnigan Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
... limbs, trunk, and body and fat accumulation in the face and neck, which are associated with grave metabolic disorders including insulin resistance with acanthosis nigricans in skin fold [r] ...
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Laminopathies: The molecular background of the disease and the prospects for its treatment
... acquired lipodystrophy. Interestingly, in fibroblasts from Dunnigan-type familial partial lipodystrophy patients, pre-lamin A accumulation was also observed [101], supporting the observed ...
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Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome
... The studies of clinical and cellular consequences of LMNA mutations in humans have provided several indica- tions of a close physiopathological relationship between premature aging and lipodystrophic syndromes. Indeed, ...
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Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges
... generalized lipodystrophy (CGL), referred to here as generalized lipodystrophy (GL), and acquired partial lipodystrophy (APL) and familial partial lipodystrophy (FPL), ...
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Triple X syndrome in a patient with partial lipodystrophy discovered using a high density oligonucleotide microarray: a case report
... generalized lipodystrophy (AGPAT2, BSCL2), three subtypes of familial partial lipodystrophy (LMNA, PPARG, CAV1 ), and some patients with acquired partial lipodystrophy ( LMNB2 ) ...
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Genetics of epilepsy
... In the genetic analysis project, I was responsible for the overall design of the study and the design of the analytical strategy (in collaboration with my supervisors), the literature review, the recruitment of ...
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Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia
... atypical partial lipodystrophy, with subcutaneous fat loss affecting the upper part of her body and face, but sparing her legs, gluteal region and visceral fat ...a partial lipodystrophy ...
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Familial Partial Trisomy of the Long Arm of Chromosome 10 (q24-26)
... From an analysis of the phenotypes of these patients and others reported with lOq trisomy, we propose that the tn- somy lOq 24-26 syndrome includes: growth and mental re- tardation, a ch[r] ...
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