Lipodystrophy in patients with HIV-infection has been studied intensively to understand its epidemiology and pathophysiology. Recently its development was attributed to a dysregulation of TNF-alpha synthesis' homeostasis by HAART. A few years ago it was found that pentoxifylline decreases TNF-alpha production. We describe one HIV-infected patient, with lipodystrophy syndrome, treated with pentoxifylline without any improvement of lipodystrophic symptoms.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Paradoxical 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 PDFSiblings With Berardinelli-Seip Congenital Lipodystrophy: Clinical Insights and Challenges.
Cureus
December 2024
Pharmacy, Punjab University College of Pharmacy, Lahore, PAK.
Berardinelli-Seip congenital lipodystrophy (BSCL), also known as congenital generalized lipodystrophy (CGL), is an exceptionally rare autosomal recessive disorder marked by a significant deficiency of adipose tissue throughout the body. This lack of adipose tissue, normally found beneath the skin and between internal organs, leads to impaired adipocyte formation and fat storage, causing lipids to accumulate in atypical tissues such as muscles and the liver. The extent of adipose tissue loss directly influences the severity of symptoms, which can include a muscular appearance, increased appetite, bone cysts, marrow fat depletion, acromegalic features, severe insulin resistance, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, hepatic steatosis, hepatomegaly, cirrhosis, and intellectual disability.
View Article and Find Full Text PDF[A rare case of PIK3R1 gene mutation associated SHORT syndrome].
Zhonghua Nei Ke Za Zhi
January 2025
Department of Endocrinology, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, Haikou570311, China.
The Causal Role of Ectopic Fat Deposition in the Pathogenesis of Metabolic Syndrome.
Int J Mol Sci
December 2024
Department of Internal Medicine, Erasmus Medical Center (Erasmus MC), Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands.
Consuming a "modern" Western diet and overnutrition may increase insulin secretion. Additionally, nutrition-mediated hyperinsulinemia is a major driver of ectopic fat deposition. The global prevalence of metabolic syndrome is high and growing.
View Article and Find Full Text PDFLetter to the Editor from de Zegher and Ibáñez: "Rare variation in LMNA underlies polycystic ovary syndrome (PCOS) pathogenesis in two independent cohorts".
J Clin Endocrinol Metab
January 2025
Endocrinology Department, Institut de Recerca Sant Joan de Déu, University of Barcelona, 08950 Esplugues, Barcelona, Spain.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!