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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 PDFZinc Combined with Metformin Corrects Zinc Homeostasis and Improves Steroid Synthesis and Semen Quality in Male Type 2 Diabetic Mice by Activating PI3K/AKT/mTOR Pathway.
Biol Trace Elem Res
January 2025
Hebei Key Laboratory of Reproductive Medicine, Hebei Reproductive Health Hospital, Shijiazhuang 050071, Hebei, China.
Male infertility is a common complication of diabetes. Diabetes leads to the decrease of zinc (Zn) content, which is a necessary trace element to maintain the normal structure and function of reproductive organs and spermatogenesis. The purpose of this study was to investigate the effect of metformin combined with zinc on testis and sperm in diabetic mice.
View Article and Find Full Text PDFRecent Advances in Radical Coupling Reactions Directly Involving Bicyclo[1.1.1]pentane (BCP).
Top Curr Chem (Cham)
January 2025
School of Pharmacy, Hangzhou Normal University, Hangzhou, 311121, Zhejiang, People's Republic of China.
BCP (bicyclo[1.1.1]pentane) is an ideal saturated carbon bioisostere, instead of the traditional benzene group, which has been extensively developed.
View Article and Find Full Text PDFDELTO Study: Delphi Consensus on Long-Term Textbook Outcome After Metabolic Bariatric Surgery.
Obes Surg
January 2025
Ziekenhuis Groep Twente, Almelo, Netherlands.
Background: This study aimed to create a comprehensive Core Outcome Set (COS) for assessing the long-term outcome (≥ 5 years) after Metabolic Bariatric Surgery (MBS), through the use of the Delphi method.
Methods: The study utilized a three-phase approach. In Phase 1, a long list of items was identified through a literature review and expert input, forming the basis for an online Delphi survey.
Progress 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.
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