This case report illustrates a 40-year-old woman who presented with chest discomfort that was subsequently diagnosed to have metabolic syndrome. Metabolic syndrome is a common condition associated with increased cardiovascular morbidity and mortality. As primary care providers, we should be detect this condition early, intervene and prevent appropriately before complications occur.
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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 PDFActa Obstet Gynecol Scand
January 2025
Department of Biomedical Sciences, Humanitas University, Milan, Italy.
Introduction: Recurrent pregnancy loss (RPL), defined as two or more consecutive pregnancy losses before 24 weeks of gestation, affects up to 1%-2% of couples. Aim of this retrospective cohort study was to report the main causes and pregnancy outcomes of a cohort of women with RPL and the efficacy of a personalized work-up and treatment in terms of live birth rate.
Material And Methods: Women with primary (pRPL) and secondary (sRPL) RPL underwent a complete work-up and personalized therapeutic management.
Front Endocrinol (Lausanne)
January 2025
Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, Bari, Italy.
Indian J Clin Biochem
January 2025
Department of Biochemistry, Velammal Medical College Hospital and Research Institute, Madurai, Tamil Nadu 632002 India.
Unlabelled: Non-alcoholic fatty liver disease (NAFLD) is one of the major causes of chronic liver disease worldwide. There are conflicting reports on the association of serum ferritin levels and its utility in discriminating various stages of liver fibrosis in patients with NAFLD. This study is done to address the conflicts by analysing the National Health and Nutritional Examination Survey 2017-2020 (NHANES 2017-2020) data.
View Article and Find Full Text PDFMol Genet Metab Rep
March 2025
Department of Biochemistry, JSS Medical College and Hospital, JSS-AHER, Mysuru 570015, India.
Mitochondrial DNA (mtDNA) variants considerably affect diabetes mellitus by disturbing mitochondrial function, energy metabolism, oxidative stress response, and even insulin secretion. The m.3243 A > G variants is associated with maternally inherited diabetes and deafness (MIDD), where early onset diabetes and hearing loss are prominent features.
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