Results 21 to 30 of about 6,263,315 (249)
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury
, 2022 Hepatology, EarlyView.
Robert J. Fontana +6 more
wiley +1 more source
Cellular Therapies in Chronic Granulomatous Disease
Frontiers in Pediatrics, 2020 Allogeneic hematopoietic stem cell transplantation (HSCT) has become the main curative treatment in patients with chronic granulomatous disease (CGD). CGD is caused by inherited defects of the phagolysomal NADPH-oxidase, leading to a lifelong propensity ...
Tayfun Güngör, Robert Chiesa
doaj +1 more source
Frontiers in Medicine, 2021 Uveitis associated with Vogt-Koyanagi-Harada (VKH) disease is a bilateral, chronic, granulomatous autoimmune disease associated with vitiligo, poliosis, alopecia, and meningeal and auditory manifestations.
Ahmed M. Abu El-Asrar +4 more
doaj +1 more source
Recent advances in chronic granulomatous disease
Genes and Diseases, 2020 Chronic granulomatous disease (CGD) is an inherited defect of phagocyte function due to defective NADPH oxidase. Patients with CGD are not able to effectively clear the infections because of the defect in the phagocyte production of oxygen free radicals ...
Gummadi Anjani +6 more
doaj +1 more source
, 1981 The report describes a ten year old boy with a form of chronic granulomatous disease characterised by hepatic and tibial granulomatous, hilar and broncopulmonar inflammatory processes, and an absolute defect in PMN-mediated ...
A. Rossi +3 more
core +1 more source
Atypical Presentation of Chronic Granulomatous Disease in a Child
Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, 2017 Chronic granulomatous disease is a rare, inherited immunodeficiency caused by deletions or mutations in genes that encode subunits of the NADPH oxidase complex. The pattern of chronic granulomatous disease inheritance can be X-linked (about 70% of cases)
Chiara Cuzzupè +7 more
doaj +1 more source
Methylotroph Infections and Chronic Granulomatous Disease
Emerging Infectious Diseases, 2016 Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by a defect in production of phagocyte-derived reactive oxygen species, which leads to recurrent infections with a characteristic group of pathogens not previously known to include ...
E. Liana Falcone +12 more
doaj +1 more source
A Critical Review on the Evolution of Chitosan‐Based Injectable Hydrogels in Bone Regeneration
Advanced Materials Interfaces, EarlyView.The graphical illustration depicts hydrogel formulation using chitosan and biocompatible cross‐linkers, major advantages, and incorporation of cells, osteoinductive factors, and therapeutic drugs. Following injection, pH‐responsive gelation enables controlled drug release, promotes cell recruitment and osteogenic differentiation, enhances extracellular
Shivani Santosh Sakhrani +2 more
wiley +1 more source
Arthritis &Rheumatology, EarlyView.Objective To assess the 2022 American College of Rheumatology (ACR)/EULAR classification criteria for antineutrophil cytoplasmic antibody–associated vasculitis (AAV) in children with chronic small‐to‐medium vessel vasculitis. Methods A cohort of 574 patients, identified by physician's diagnosis (MD‐diagnosis) in A Registry of Childhood Vasculitis, was ...
David A. Cabral +41 more
wiley +1 more source