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http://dx.doi.org/10.2337/dc11-s215 | DOI Listing |
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 PDFFam 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 PDFArch 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).
View Article and Find Full Text PDFJ Orthop Traumatol
January 2025
Department of Orthopaedic Trauma, Hong Hui Hospital, Xi'an Jiaotong University School of Medicine, Xi'an, 710054, Shaanxi, China.
Background: Clavicle fractures associated with ipsilateral coracoid process fractures are very rare, with limited literature reporting only a few cases. This study reports on 27 patients with ipsilateral concomitant fractures of the clavicle and coracoid process who were followed for more than 12 months.
Material And Methods: This retrospective study reviewed the charts of skeletally mature patients with traumatic ipsilateral clavicle and coracoid process fractures treated at the authors' institution.
Adv Ther
January 2025
Department of Endocrinology and Nutrition, Hospital Universitari de Bellvitge-IDIBELL, C/de la Feixa Llarga S/N, 08907, Hospitalet de Llobregat, Barcelona, Spain.
Introduction: Obesity and its complications are associated with high morbidity/mortality and a significant healthcare cost burden in Spain. It is therefore essential to know the potential clinical and economic benefits of reducing obesity. The objective of this study is to predict the decrease in rates of onset of potential complications associated with obesity and the cost savings after a weight loss of 15% over 10 years in Spain.
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