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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 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.
View Article and Find Full Text PDFAssociations of fat, bone, and muscle indices with disease severity in patients with obstructive sleep apnea hypopnea syndrome.
Sleep Breath
January 2025
Department of Pulmonary and Critical Care Medicine, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, No.1 Da Hua Road, Dong Dan, Dongcheng District, Beijing, 100730, PR China.
Purpose: To investigate the relationship between obstructive sleep apnea hypopnea syndrome (OSAHS) severity and fat, bone, and muscle indices.
Methods: This study included 102 patients with OSAHS and retrospectively reviewed their physical examination data. All patients underwent polysomnography, body composition analysis, dual-energy X-ray absorptiometry, computed tomography (CT) and blood test.
Efficacy of diluted botulinum toxin type A (Microbotox) in treatment of mild to moderate acne vulgaris.
Arch Dermatol Res
January 2025
Department of Dermatology, Medical Research and Clinical Studies Institute, National Research Centre, Giza, Egypt.
Acne vulgaris is a common and challenging condition to treat. To assess the effect of botulinum toxin type A (BTX-A) in the treatment of mild to moderate acne vulgaris. This study included 30 patients with mild to moderate acne vulgaris treated with intradermal injections of diluted BTX-A (microbotox) on the cheek in a regular grid pattern using very small droplets (microbotox).
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