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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 PDFClinical and laboratory characteristics of Sjögren's syndrome-associated autoimmune liver disease: a real-world, 10-year retrospective study.
Clin Rheumatol
January 2025
Department of Rheumatology and Immunology, Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China.
Objectives: To investigate the clinical and laboratory features of Sjögren's syndrome-associated autoimmune liver disease (SS-ALD) patients and identify potential risk and prognostic factors.
Methods: SS patients with or without ALD, who visited Tongji Hospital between the years 2011 and 2021 and met the 2012 American College of Rheumatology (ACR) classification criteria for Sjögren's syndrome, were retrospectively enrolled. The clinical and laboratory data of the enrolled patients, including autoimmune antibodies, were collected and analyzed with principal component analysis, correlation analysis, LASSO regression, and Cox regression.
Utility of F-FDG PET/CT metabolic parameters on post-transplant lymphoproliferative disorder diagnosis.
Ann Nucl Med
January 2025
Department of Nuclear Medicine, Tianjin Medical University General Hospital, Tianjin, 300052, China.
Objective: Using F-FDG PET/CT metabolic parameters to differentiate post-transplant lymphoproliferative disorder (PTLD) and reactive lymphoid hyperplasia (RLH), and PTLD subtypes.
Methods: F-FDG PET/CT and clinical data from 63 PTLD cases and 19 RLH cases were retrospectively collected. According to the 2017 WHO classification, PTLD was categorized into four subtypes: nondestructive (ND-PTLD), polymorphic (P-PTLD), monomorphic (M-PTLD), and classic Hodgkin.
Exogenous melatonin and grafting improved the growth and physiological characteristics of Citrullus lanatus seedlings under cadmium stress.
Environ Sci Pollut Res Int
January 2025
College of Horticulture and Landscape Architecture, Tianjin Agricultural University, Tianjin, 300392, China.
Citrullus lanatus is an important vegetable crop, but it is heavily polluted by cadmium. In this study, we used C. Lanatus as experimental material to investigate effects of different concentrations (0, 50, 100, 200, 400 µmolL) of exogenous melatonin, and grafting on the physiological growth index and anatomical structure of seedlings were studied by simulating Cd (180 mg L) stress environment.
View Article and Find Full Text PDFIpsilateral concomitant fractures of the clavicle and coracoid process of the scapula: incidence, characteristics, and outcomes.
J 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.
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