Results 91 to 100 of about 28,474 (237)

Apeced in Turkey: a case report and insights on genetic and phenotypic variability [PDF]

, 2018
APECED is a rare monogenic recessive disorder caused by mutations in the AIRE gene. In this manuscript, we report a male Turkish patient with APECED syndrome who presented with chronic mucocutaneous candidiasis associated with other autoimmune ...
Alessandra Fierabraccia, Corrado Betterle, FRASCA, FEDERICA, Marsha Pellegrino, Sara Sebnem Kilic   +4 more
core   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

Drug interactions may be important risk factors for methotrexate neurotoxicity, particularly in pediatric leukemia patients [PDF]

, 2016
Purpose: Methotrexate administration is associated with frequent adverse neurological events during treatment for childhood acute lymphoblastic leukemia.
Baird, Susan F., Forster, Victoria J., Halsey, Christina, Mair, Shona, Skinner, Roderick, van Delft, Frederik W.   +5 more
core   +2 more sources

[Zinc and chronic enteropathies].

La Pediatria medica e chirurgica : Medical and surgical pediatrics, 1985
In recent years the nutritional importance of zinc has been well established; its deficiency and its symptoms have also been recognized in humans. Furthermore, Acrodermatitis Enteropathica has been isolated, a rare but severe disease, of which skin lesions, chronic diarrhoea and recurring infections are the main symptoms.
P L, Giorgi, C, Catassi, A, Guerrieri
openaire   +1 more source

Gene Therapy and Gene Editing in Type 1 Diabetes: CRISPR‐Based β‐Cell Replacement and Treg Immune Modulation Approaches

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Background Type 1 diabetes mellitus (T1DM) is a chronic autoimmune disease marked by the destruction of pancreatic β‐cells, resulting in lifelong dependence on exogenous insulin. Despite advances in insulin delivery and glucose monitoring technologies, patients remain at risk for acute and long‐term complications, underscoring the need for ...
Tzu‐Min Lin, Hui‐Fang Chang, Tzu‐Ching Lin, Cheng‐Han Lin, Yu‐Ling Sun, Chih‐Sheng Lin   +5 more
wiley   +1 more source

Angiopoietin-2 predicts morbidity in adults with Fontan physiology. [PDF]

, 2019
Morbidity in patients with single-ventricle Fontan circulation is common and includes arrhythmias, edema, and pulmonary arteriovenous malformations (PAVM) among others. We sought to identify biomarkers that may predict such complications.
Aboulhosn, Jamil A, Boström, Kristina I, Conrad, Miles B, Guihard, Pierre J, Iruela-Arispe, M Luisa, Kim, Helen, Lluri, Gentian, Pawlikowska, Ludmila, Shirali, Aditya S   +8 more
core  

Primary cardiac T‐cell rich large B‐cell lymphoma causing aortic stenosis with metastasis in a Warmblood

Equine Veterinary Education, EarlyView.
Summary An 18‐year‐old Warmblood mare was presented to the Royal Veterinary College Equine Referral Hospital for investigation of progressive periocular and facial swelling, weight loss and tachycardia. Physical examination additionally identified bilateral pansystolic (grade 5/6 basilar left‐sided, 2/6 right‐sided), cardiac murmurs, submandibular ...
S. E. Talbot, F. Z. X. Lean, H. M. Martineau, B. Dunkel, J. Reed   +4 more
wiley   +1 more source

Tufting Enteropathy with EpCAM Mutations in Two Siblings

Gut and Liver, 2010
Tufting enteropathy is a rare autosomal recessive disorder presenting with early-onset severe intractable diarrhea. The epithelial cell adhesion molecule gene (EpCAM) has recently been identified as the gene responsible for tufting enteropathy.
doaj   +1 more source

Oral chondroitin sulfate and prebiotics for the treatment of canine Inflammatory Bowel Disease: a randomized, controlled clinical trial [PDF]

, 2016
BACKGROUND Canine inflammatory bowel disease (IBD) is a chronic enteropathy of unknown etiology, although microbiome dysbiosis, genetic susceptibility, and dietary and/or environmental factors are hypothesized to be involved in its pathogenesis. Since
A Ghiselli, A Tvarijonaviciute, A Wächtershäuser, ABC Samuelsen, AE Jergens, AE Jergens, AJ Schottelius, Alberto Muñoz-Prieto, Alfonso Velasco, Antonio Rodríguez-Bertos, CG Fraga, CS Brennan, D Boehm, D Martínez-Puig, Daniel Martínez-Puig, E Gisbert, Fernando Rodríguez-Franco, G Rossi, G Rossi, IE Koutroubakis, JE Fogle, JJ Ceron, José Cerón, JS Suchodolski, JS Suchodolski, K Allenspach, K Allenspach, Karin Allenspach, KS Swanson, KW Simpson, L Kaufman, M Castillo, M García-Sancho, M Krzystek-Korpacka, M Nofrarías, M Roca, M Volkmann, MA Murphy, Marta Cerdà-Cuéllar, MT Collins, N Luckschander, O Erel, P Souich du, PG Xenoulis, RJ Washabau, S Martinez-Subiela, Sergi Segarra, Silvia Martínez-Subiela, TM McCann, VL Cabral, Y Minamoto, Y You   +51 more
core   +6 more sources

Association of Fontan Circulation With Gut Microbiome Derived Straight and Branched Short Chain Fatty Acids

Journal of Gastroenterology and Hepatology, EarlyView.
Adults with Fontan circulation (n = 20) and matched controls underwent body composition, frailty testing, CPET, and NICaS hemodynamics. Plasma short‐chain fatty acids were quantified by LC–MS/MS. Fontan patients had higher straight and branched SCFAs, correlating with lower muscle mass, greater frailty, reduced VO2max, and worse resting/postexercise ...
Ashish H. Shah, Yixiu Liu, Heather K. Armstrong, Jun Han, David R. Goodlett, Amir Ravandi, Sanjiv Dhingra   +6 more
wiley   +1 more source