Results 181 to 190 of about 47,631 (258)

When to consider an inborn error of immunity: clues for physicians

Internal Medicine Journal, EarlyView.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source

Australasian Society of Clinical Immunology and Allergy consensus statement on IEI molecular diagnosis. [PDF]

J Hum Immun
Yanes T, Cole T, Kane A, King J, Pinzon-Charry A, Hsiao KC, McNaughton P.   +6 more
europepmc   +1 more source

Sudomotor dysfunction in people with type 1 diabetes with and without clinical peripheral neuropathy: A study from Pune, India

Journal of Diabetes Investigation, EarlyView.
ABSTRACT Background and Aims It is appreciated that current screening tools for diabetic peripheral neuropathy (DPN) often fail to detect early disease. Sudomotor (sweat gland) dysfunction, among the earliest manifestations of DPN, can be measured objectively by the SUDOSCAN® device. We compared SUDOSCAN® with conventional validated screening (Michigan
Rohan Shah, Rishikesh Behere, Aboli Bhalerao, Sanat Phatak, Alma Baptist, Chinmay S. Marathe, Chittaranjan S. Yajnik   +6 more
wiley   +1 more source

Young People With Type 2 Diabetes Are Under‐Represented in Randomized Clinical Trials

Diabetes, Obesity and Metabolism, EarlyView.
Bowei Yu, Juliana C. N. Chan, Andrea O. Y. Luk, Hongjiang Wu   +3 more
wiley   +1 more source

A case of maturity‐onset diabetes of the young with a pathogenic HNF1A variant and a coexisting NEUROD1 variant

Journal of Diabetes Investigation, EarlyView.
ABSTRACT Aims/Introduction Maturity‐onset diabetes of the young (MODY) accounts for at least 1%–5% of diabetes cases and is usually caused by single gene variants. Accurate diagnosis of MODY is important for effective management, especially in young individuals who are lean and lack islet autoantibodies.
Tomofumi Takayoshi, Yushi Hirota, Kenji Sugawara, Aki Sugano, Mika Ohta, Takehito Takeuchi, Akane Yamamoto, Wataru Satake, Yutaka Takaoka, Wataru Ogawa   +9 more
wiley   +1 more source

Clinical Phenotypes and Genetic Findings in Very-Early-Onset Inflammatory Bowel Disease: A Vietnamese Pediatric Cohort Study. [PDF]

Children (Basel)
Nguyen MC, Nguyen TVH, Nguyen L, Dang TH, Tran T, Nguyen TVA, Hoang NT, Nguyen NQL, Do TMP, Nguyen VT, Vu HY, Nguyen TNH, Nguyen TTT, Le TCV, Bui TKN, Le TTH, Tran MD.   +16 more
europepmc   +1 more source

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

Journal of the European Academy of Dermatology and Venereology, EarlyView.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz, Alain Hovnanian, Grace Xiong, Dedee Frances Murrell, Simon M. Mueller, Khaled Ezzedine, Nessa Aghazadeh Mohandesi, Ahmed Salem Aldhaheri, Nissim Asayag, Eulalia Baselga, Chen Nadler, Keith Choate, Chia‐Yu Chu, John Robert Edminister, Emmanuella Guenova, Melis Gönülal, Antoni Gostynski, Ankan Gupta, Lalit Kumar Gupta, Juliette Mazereeuw‐Hautier, Wolfram Hoetzenecker, Peter Itin, Marek Jankowski, Akiharu Kubo, Haur Yueh Lee, Julia Scott Lehman, Anfisa Lepekhova, Márta Medvecz, Jemima E. Mellerio, Verena Moosbrugger‐Martinz, Amy S. Paller, Dóra Plázár, Amadeu José Rodrigues Queiróz, Josep Riera‐Monroig, Ralph Rosa, Matthias Schmuth, Maella Severino Freire, Itzhak Shabat, Jonathan Shapiro, Cory L. Simpson, Diego Soto‐García, Alexander J. Stratigos, Gianluca Abel Tadini, Takuya Takeichi, Kaushal K. Verma, Jakob D. Wikström, Alexander Zink, Michael Ziv, Alexander Navarini, Roni Pircha Dodiuk‐Gad   +49 more
wiley   +1 more source

Full‐Spectrum Medicinal Cannabis Plant Extract 0.08% THC (NTI164) Improves Symptoms of Rett Syndrome: An Open‐Label Study

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim The aim of this Phase I/II open‐label study was to assess the safety and efficacy of NTI164, a novel full‐spectrum medicinal cannabis plant extract 0.08% Δ‐9‐tetrahydrocannabinol (THC), in Rett syndrome (RTT). Methods Eleven female participants (5–16 years) with a pathogenic variant in the MECP2 gene were recruited to this study, receiving
B. A. Keating, Y. Ogru, T. G. Duthy, L. Douglas, K. Lichkus, E. Isikgel, M. C. Fahey, C. Ellaway   +7 more
wiley   +1 more source

Genetic determinants of childhood onset systemic lupus erythematosus. [PDF]

Lupus Sci Med
Nelson M, Murthy S, Maddipatla S, Shenoy S, Ponder L, Chandrakasan S, Kugathasan S, Cutler D, Prahalad S.   +8 more
europepmc   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source