Published in HIV/AIDS (Auckland, N.Z.)
The extensive utilization of antiretroviral therapy (ART) has successfully improved human immunodeficiency virus (HIV)-associated complications. The incidence of opportunistic infections is decreased by the viral load suppression and the CD4 count promotion. However, metabolic complications, commonly bone demineralization, lipodystrophy, and lactic...
Published in AIDS care
A cross-sectional study was conducted with 227 adults, 162 using antiretroviral therapy (ART), both sexes, in Secondary Immunodeficiency Outpatient Clinic of the Department of Dermatology of the Hospital das Clínicas of the Faculty of Medicine of University of São Paulo. The patients were grouped into 92 under ART and self-reported lipodystrophy (G...
Published in International Journal of Molecular Sciences
Objective . Similar to obesity, lipodystrophy (LD) causes adipose tissue dysfunction and severe metabolic complications. Growth differentiation factor 15 (GDF15) belongs to the transforming growth factor β superfamily and is dysregulated in metabolic disease including obesity and diabetes mellitus. Circulating levels in LD and the impact of leptin ...
Published in The Turkish Journal of Gastroenterology
Background/Aims Lipodystrophy is a rare metabolic disorder characterized by a near-total or partial lack of subcutaneous adipose tissue and is associated with insulin resistance. We aimed to evaluate the efficacy of magnetic resonance spectroscopy (MRS) imaging to explore the fat content of the liver in patients with lipodystrophy and to determine ...
Published in Journal of the Endocrine Society
Atypical progeroid syndrome (APS) comprises heterogeneous disorders characterized by variable degrees of fat loss, metabolic alterations, and comorbidities that affect skeleton, muscles, and/or the heart. We describe 3 patients that were referred to our center for the suspicion of lipodystrophy. They had precocious aging traits such as short statur...
Published in Journal of the Endocrine Society
Background Pathogenic variants in lamin A/C ( LMNA ) cause a variety of progeroid disorders including Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia, and atypical progeroid syndrome. Six families with 11 patients harboring a pathogenic heterozygous LMNA c.1045C>T; p.R349W variant have been previously reported to have partial lipodys...
Published in Drug Design, Development and Therapy
Severe hypertriglyceridaemia is associated with pancreatitis and chronic pancreatitis-induced diabetes. Familial chylomicronaemia syndrome (FCS) is a rare autosomal recessive disorder of lipid metabolism characterised by high levels of triglycerides (TGs) due to failure of chylomicron clearance. It causes repeated episodes of severe abdominal pain,...
Published in Journal of medical genetics
Despite major advances in understanding the molecular basis of various genetic lipodystrophy syndromes, some rare patients still remain unexplained. We report a novel autosomal recessive lipodystrophy affecting two sisters aged 17 and 19 years and characterised by early onset intellectual disability, and subsequent development of near-generalised l...
Published in Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy
Lipodystrophies are a heterogeneous group of congenital or acquired disorders, characterized by partial or generalized loss of adipose tissue. Familial partial lipodystrophy (FPLD) presents with genetic and phenotypic variability with insulin resistance, hypertriglyceridemia and hepatic steatosis being the cardinal metabolic features. The severity ...
Published in Proteins
Ste24 enzymes, a family of eukaryotic integral membrane proteins, are zinc metalloproteases (ZMPs) originally characterized as "CAAX proteases" targeting prenylated substrates, including a-factor mating pheromone in yeast and prelamin A in humans. Recently, Ste24 was shown to also cleave nonprenylated substrates. Reduced activity of the human ortho...
