Congenital generalized lipodystrophy
Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family
... The affected members (IV-1 and IV-3) of the family showed characteristic features of congenital generalized lipodystrophy. Both the affected individuals had acanthosis nigricans (velvety thickening ...
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<p>A New Compound Heterozygous Mutation Of <em>BSCL2</em> In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy</p>
... Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip conge- nital lipodystrophy (BSCL), is an autosomal recessive disorder characterized by a near- total loss of adipose ...
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<p>Early Left Ventricular Systolic Dysfunction Detected by Two-Dimensional Speckle-Tracking Echocardiography in Young Patients with Congenital Generalized Lipodystrophy</p>
... Bernardinelli-Seip congenital lipodystrophy type 2 pro- tein; CGL1, congenital generalized lipodystrophy type 1; CGL2, congenital generalized lipodystrophy type 2; ...
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Association between cardiovascular autonomic neuropathy and left ventricular hypertrophy in young patients with congenital generalized lipodystrophy
... CGL: congenital generalized lipodystrophy; cIMT: carotid intimal media thickness; cQT interval: corrected QT interval; EAT: epicardial adipose tissue; EF: ejection fraction; FFA: free fatty acids; ...
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Cardiac Manifestations of Congenital Generalized Lipodystrophy
... BRIEF Congenital lipodystrophy is a rare genetic disorder characterized by a near-complete absence of fat cells, hypoleptinemia leading to a voracious appetite, and marked insulin ...with congenital ...
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Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy
... The aim of this study was to describe the clinical and laboratory characteristics of a large series of patients with BSCL, correlating the findings with the pathophysi- ology of the di[r] ...
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A mutation in the c-Fos gene associated with congenital generalized lipodystrophy
... Lipodystrophy resemble syndromes of disturbed adipo- cyte biology or metabolism but the severe congenital forms are thought to be related to malfunctions in adipo- cyte development [4,5]. Therefore genes ...
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Triple X syndrome in a patient with partial lipodystrophy discovered using a high density oligonucleotide microarray: a case report
... of congenital generalized lipodystrophy (AGPAT2, BSCL2), three subtypes of familial partial lipodystrophy (LMNA, PPARG, CAV1 ), and some patients with acquired partial lipodystrophy ( ...
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Diet rich in Docosahexaenoic Acid/Eicosapentaenoic Acid robustly ameliorates hepatic steatosis and insulin resistance in seipin deficient lipodystrophy mice
... CGL: Congenital generalized lipodystrophy; NC: Normal chow diet; D/ E: DHA/EPA diet; HDL-C: High density lipoprotein-cholesterol; Glu: Glucose; TC: Total cholesterol; TG: Triglycerides; GTT: Glucose ...
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Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges
... acquired generalized lipo- dystrophy (AGL) and congenital generalized lipodystrophy (CGL), referred to here as generalized lipodystrophy (GL), and acquired partial ...
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Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia
... Electropherogram scans showing the novel heterozygous CAV1 frameshift mutations in the lipodystrophy patients. The left half of the figure shows a portion of CAV1 exon 2 from genomic DNA of a control subject and ...
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Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes
... syndrome, generalized hypertrichosis is present together with cutis marmorata in 60 % of patients; the cutaneous signs are small nipples and umbilicus and premature aging signs (wrinkling, sagging and gray hair) ...
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Treatment of Congenital Generalized Lymphangiectasia With Propranolol in a Preterm Infant
... Postnatally, the patient received me- chanical ventilation and extensive therapy with catecholamines and di- uretics. Pleural effusions and ascites were chylous (pleural effusion: tri- glyceride level, 227 mg/dL; 81% ...
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High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil
... Berardinelli‑Seip Congenital Lipodystrophy; CI: confi‑ dence interval; FACISA: Faculdade de Ciências da Saúde do Trairi; IBGE: Instituto Brasileiro de Geografia e Estatística; MG: Minas Gerais; RN: Rio ...
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Hypotension, lipodystrophy, and insulin resistance in generalized PPARγ deficient mice rescued from embryonic lethality
... a generalized PPARγ-knockout (both PPARγ1 and PPARγ2) mouse model, Mox2-Cre–PPARγ knockout (MORE-PGKO), which rescues embryonic lethality by preserving PPARγ expres- sion in the ...caused lipodystrophy and ...
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Factors Associated With Increased Resource Utilization for Congenital Heart Disease
... States varied in the frequency of cases of especially high resource use for congenital heart surgery, with some having a higher- and some having a lower- than-expected number. Patients who had greater dis- ease ...
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Body image in women with HIV: a cross-sectional evaluation
... how lipodystrophy directly affects body image by assessing body image before and after somatic ...as lipodystrophy syndrome is not a homogeneous entity and varies in ...Nevertheless, lipodystrophy ...
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Lipodystrophy in HIV patients: its challenges and management approaches
... The results of epidemiological studies performed since the late 1990s suggested the presence of multiple pathogenic mechanisms, including disease, host, and treatment-related influences (Table 2). Importantly, there were ...
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HIV-associated lipodystrophy: a review from a Brazilian perspective
... Several trials have tried to find a way to treat these body changes, but no single solution has been found so far. Potential treatment approaches including changing lifestyle, with adherence to adequate nutritional ...
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Evaluation of epicardial adipose tissue in familial partial lipodystrophy
... Background: Dunnigan type Familial Partial Lipodystrophy (FPLD) is characterized by loss of subcutaneous fat from the limbs and excessive accumulation on the visceral adipose tissue (VAT). Affected individuals ...
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