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Current and Emerging Therapies for Lysosomal Storage Disorders.
Drugs
January 2025
Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, University College London, London, NW3 2QG, UK.
Lysosomal storage disorders (LSDs) are rare inherited metabolic disorders characterized by defects in the function of specific enzymes responsible for breaking down substrates within cellular organelles (lysosomes) essential for the processing of macromolecules. Undigested substrate accumulates within lysosomes, leading to cellular dysfunction, tissue damage, and clinical manifestations. Clinical features vary depending on the degree and type of enzyme deficiency, the type and extent of substrate accumulated, and the tissues affected.
View Article and Find Full Text PDFIntegrating the milk microbiome signatures in mastitis: milk-omics and functional implications.
World J Microbiol Biotechnol
January 2025
Area of Biochemistry and Molecular Biology, OneHealth-UR Research Group, University of La Rioja, 26006, Logroño, Spain.
Mammalian milk contains a variety of complex bioactive and nutritional components and microorganisms. These microorganisms have diverse compositions and functional roles that impact host health and disease pathophysiology, especially mastitis. The advent and use of high throughput omics technologies, including metagenomics, metatranscriptomics, metaproteomics, metametabolomics, as well as culturomics in milk microbiome studies suggest strong relationships between host phenotype and milk microbiome signatures in mastitis.
View Article and Find Full Text PDFCardiovascular Risk Reduction in Metabolic Dysfunction-Associated Steatotic Liver Disease and Metabolic Dysfunction-Associated Steatohepatitis.
Curr Cardiol Rep
January 2025
Division of Cardiology, Department of Internal Medicine II, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.
Purpose Of Review: Metabolic dysfunction-associated steatotic liver disease (MASLD) is the most common chronic liver disease, characterized by hepatic steatosis with at least one cardiometabolic risk factor. Patients with MASLD are at increased risk for the occurrence of cardiovascular events. Within this review article, we aimed to provide an update on the pathophysiology of MASLD, its interplay with cardiovascular disease, and current treatment strategies.
View Article and Find Full Text PDFProgress report on multiple endocrine neoplasia type 1.
Fam Cancer
January 2025
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disorder caused by a germline pathogenic variant in the MEN1 tumor suppressor gene. Patients with MEN1 have a high risk for primary hyperparathyroidism (PHPT) with a penetrance of nearly 100%, pituitary adenomas (PitAd) in 40% of patients, and neuroendocrine neoplasms (NEN) of the pancreas (40% of patients), duodenum, lung, and thymus. Increased MEN1-related mortality is mainly related to duodenal-pancreatic and thymic NEN.
View Article and Find Full Text PDFLongitudinal Relationships Across Bullying Victimization, Friendship and Social Support, and Internalizing Symptoms in Early-to-Middle Adolescence: A Developmental Cascades Investigation.
J Youth Adolesc
January 2025
Manchester Institute of Education, University of Manchester, Manchester, UK.
Current understanding of the longitudinal relationships between different aspects of peer relationships and mental health problems in early- to mid-adolescence is limited. In particular, the role played by gender in these developmental cascades processes is unclear, little is known about within-person effects between bullying victimization and internalizing symptoms, and the theorized benefits of friendship and social support are largely untested. Addressing these important research gaps, this study tested a number of theory-driven hypotheses (e.
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