Metreleptin therapy lowers plasma angiopoietin-like protein 3 in patients with generalized lipodystrophy.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of clinical lipidology"
DOI: 10.1016/j.jacl.2017.02.002
Abstract: BACKGROUND Reduced triglyceride clearance due to impaired lipoprotein lipase-mediated lipolysis contributes to severe hypertriglyceridemia in lipodystrophy. Angiopoietin-like protein 3 (ANGPTL3) and 4 (ANGPTL4) impair clearance of triglycerides by inhibiting lipoprotein lipase. Whether circulating ANGPTL3/4 levels… read more here.
Keywords: patients generalized; metreleptin therapy; generalized lipodystrophy;
Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy
Sign Up to like & getrecommendations! Published in 2019 at "Medicine"
DOI: 10.1097/md.0000000000018121
Abstract: Abstract Rationale: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive hereditary disease. It is associated with metabolic complications and epilepsy is rare. Patient Concerns and Diagnoses: One child with BSCL2 mutation and CGL accompanied… read more here.
Keywords: progressive myoclonic; generalized lipodystrophy; child; epilepsy ... See more keywords
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis
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DOI: 10.1111/dom.15061
Abstract: To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow‐up. read more here.
Keywords: features generalized; lipodystrophy; lipodystrophy turkey; cohort ... See more keywords
An unusual case of acquired generalized lipodystrophy (panniculitis variety)
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DOI: 10.1111/pde.15668
Abstract: Acquired generalized lipodystrophy (AGL) is a rare disease characterized by variable loss of adipose tissue and concurrent metabolic derangements, typically with childhood or adolescent onset. AGL has three subclassifications: panniculitis (type 1), autoimmune disease (type… read more here.
Keywords: unusual case; panniculitis; acquired generalized; generalized lipodystrophy ... See more keywords
Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy
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DOI: 10.1186/s12872-017-0738-4
Abstract: BackgroundMetabolic abnormalities in congenital generalized lipodystrophy (CGL) are associated with microvascular complications. However, the evaluation of different types of neuropathy in these patients, including the commitment of cardiovascular autonomic modulation, is scarce. The objective of… read more here.
Keywords: commitment cardiovascular; generalized lipodystrophy; autonomic modulation; cgl ... See more keywords
Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2022-0372
Abstract: Abstract Objectives Congenital generalized lipodystrophy (CGL) is a group of rare autosomal inherited diseases characterized by a widespread loss of adipose tissue. The main purpose of this study was to evaluate the features of Chinese… read more here.
Keywords: generalized lipodystrophy; congenital generalized; literature review; three patients ... See more keywords
Targeted massively parallel sequencing for congenital generalized lipodystrophy.
Sign Up to like & getrecommendations! Published in 2021 at "Archives of endocrinology and metabolism"
DOI: 10.20945/2359-3997000000278
Abstract: Objective Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). Methods Nine unrelated individuals with a clinical diagnosis of CGL… read more here.
Keywords: diagnosis; massively parallel; targeted massively; parallel sequencing ... See more keywords
Insulin Resistance, Cardiovascular Autonomic Neuropathy, and Left Ventricular Hypertrophy in Patients with Congenital Generalized Lipodystrophy
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DOI: 10.2337/db18-585-p
Abstract: Congenital generalized lipodystrophy (CGL) subjects have a high prevalence of cardiovascular autonomic neuropathy (CAN) and cardiac complications, including left ventricular hypertrophy (LVH). This study aimed to analyze insulin resistance (IR), CAN severity and LVH association.… read more here.
Keywords: autonomic neuropathy; generalized lipodystrophy; none; cardiovascular autonomic ... See more keywords
Characterization and Clinical Association of Autoantibodies Against Perilipin 1 in Patients with Acquired Generalized Lipodystrophy.
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DOI: 10.2337/db21-1086
Abstract: Acquired generalized lipodystrophy (AGL) is a rare condition characterized by massive loss of adipose tissue through the body, causing severe metabolic complications. Autoimmune destruction of adipocytes is strongly suspected based on the frequent association of… read more here.
Keywords: autoantibodies perilipin; anti plin1; acquired generalized; plin1 ... See more keywords
Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy.
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DOI: 10.2337/db21-1172
Abstract: Acquired lipodystrophy is often characterized as an idiopathic subtype of lipodystrophy. Despite suspicion of an immune-mediated pathology, biomarkers such as autoantibodies are generally lacking. Here, we used an unbiased proteome-wide screening approach to identify autoantibodies… read more here.
Keywords: plin1 autoantibodies; acquired generalized; lipodystrophy; generalized lipodystrophy ... See more keywords
Heterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2
Sign Up to like & getrecommendations! Published in 2024 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2024.1326700
Abstract: Introduction Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease caused by mutations in genes responsible for the formation and development of adipocytes. Bone abnormalities are described. However, there is a scarcity of data.… read more here.
Keywords: bone manifestations; generalized lipodystrophy; congenital generalized; mineral density ... See more keywords