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A very low carbohydrate diet improved metabolic profile in congenital generalized lipodystrophy type 4.
Endocrinol Diabetes Metab Case Rep
January 2025
Summary: A 17-year-old girl presented with recurrent attacks of acute pancreatitis, associated with severe hyperglycemia and hypertriglyceridemia, despite being on intensive insulin therapy for the last 10 years. She had severe acanthosis nigricans, generalized loss of subcutaneous fat and prominent veins over extremities. The serum levels of glucose and triglyceride did not reduce significantly, even with maximally tolerated doses of metformin (2 g), pioglitazone (45 mg) and fenofibrate (160 mg), not uncommonly seen in poor rural families in West Bengal, India.
View Article and Find Full Text PDFParadoxical dominant negative activity of an immunodeficiency-associated activating variant.
Elife
January 2025
The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, United Kingdom.
encodes three regulatory subunits of class IA phosphoinositide 3-kinase (PI3K), each associating with any of three catalytic subunits, namely p110α, p110β, or p110δ. Constitutional mutations cause diseases with a genotype-phenotype relationship not yet fully explained: heterozygous loss-of-function mutations cause SHORT syndrome, featuring insulin resistance and short stature attributed to reduced p110α function, while heterozygous activating mutations cause immunodeficiency, attributed to p110δ activation and known as APDS2. Surprisingly, APDS2 patients do not show features of p110α hyperactivation, but do commonly have SHORT syndrome-like features, suggesting p110α hypofunction.
View Article and Find Full Text PDFSafety and effectiveness in an uncontrolled setting of glucagon-like-peptide-1 receptor agonists in patients with familial partial lipodystrophy: Real-life experience from a national reference network.
Diabetes Obes Metab
January 2025
Endocrinology Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Saint-Antoine University Hospital, National Reference Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France.
Aim: To describe the effects of Glucagon-like peptide-1 receptor agonists (GLP-1RA) in patients with familial partial lipodystrophy (FPLD) assessed in a real-life setting in a national reference network.
Patients And Methods: We retrospectively collected clinical and metabolic parameters in patients with FPLD in the French lipodystrophy reference network, who initiated GLP-1RA. Data were recorded before, at one-year (12 ± 6 months) and at the latest follow-up on GLP-1RA therapy (≥18 months).
Apolipoprotein CIII correlates with lipoproteins in the fed state and is not regulated by leptin administration in states of hypoleptinemia induced by acute or chronic energy deficiency: Results from two randomised controlled trials.
Diabetes Obes Metab
January 2025
Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
Background: Medications targeting the leptin and Apolipoprotein CIII (APOC3) pathways are currently under development for the treatment of hypertriglyceridaemia. Given that both pathways are implicated in triglyceride regulation, it is unknown whether they function independently or interact under physiological conditions and under acute or long-term energy deficiency.
Methods: APOC3 levels and their association with circulating lipids and lipoproteins were evaluated in the context of two randomised controlled studies.
Background: Lipodystrophy encompasses a group of rare disorders associated with severe metabolic disease. These disorders are defined by abnormal fat distribution, with near-total (generalized lipodystrophy, GL) or partial (partial lipodystrophy, PL; i.e.
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