Results 71 to 80 of about 45,547 (280)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

High prevalence of myositis in a southeastern United States pediatric systemic lupus erythematosus cohort

Pediatric Rheumatology Online Journal, 2011
Inflammatory myositis is reported in 4-16% of adult systemic lupus erythematosus (SLE) patients. The aim of this study was to determine the prevalence of myositis in a cohort of pediatric SLE patients in the southeastern United States.
Cron Randy Q, Beukelman Timothy, Record Jessica L   +2 more
doaj   +1 more source

The promise, perceptions, and pitfalls of immunoassays for autoantibody testing in myositis

Arthritis Research & Therapy, 2020
Background A myositis-specific autoantibody can now be identified in the majority of patients with myositis. They identify homogeneous patient subgroups and are key tools in developing a personalized approach to disease management.
Sarah L. Tansley, Julia Snowball, John D. Pauling, Anya Lissina, Masataka Kuwana, Lisa G. Rider, Johan Rönnelid, Neil J. McHugh, on behalf of the International Myositis Assessment and Clinical Studies (IMACS) Group Myositis Autoantibody Scientific Interest Group   +8 more
doaj   +1 more source

Quadriceps Myositis.

Internal Medicine, 1992
A young woman with slowly progressive muscular weakness and atrophy localized in both thighs is reported. Laboratory, electromyographic and histological findings suggested that the patient suffered from chronic myositis with a background of autoimmune disorder. Quadriceps myositis is a rare condition.
KONAGAYA, Yoko, KONAGAYA, Masaaki, MANO, Yukio   +2 more
openaire   +3 more sources

Integrating One Health to Mitigate the Emergence and Spread of Antimicrobial Resistance in Livestock and Aquaculture

Animal Research and One Health, EarlyView.
Antimicrobial resistance (AMR) is an escalating global threat driven by antimicrobial use in aquaculture and livestock. Resistant pathogens and genes can spread across humans, animals, and the environment through interconnected ecosystems. Using a One Health approach, this review emphasizes antimicrobial stewardship, regulatory strengthening, enhanced ...
Mir Mohammad Ali, Delower Hossain, Ridwan Olamilekan Adesola, Anum Hanif, Shamsaldeen Ibrahim Saeed, Muhammad Abdul Mannan, Anoar Jamai Masroure, Kazi Estieque Alam, Md Kamal Hossain, Sabiha Zarin Tasnim Bristi, Md Jisan Ahmed   +10 more
wiley   +1 more source

lnclusion body myositis - Genetic, clinical, and epidemiological aspects

, 2023
The inflammatory myopathy inclusion body myositis (IBM) is characterized by progressive muscle weakness and dysphagia in individuals over 45 years of age.
Lindgren, Ulrika
core   +1 more source

Facilitating Expedited Drug Approval—the Past, Present, and Future of Clinical Trials for Pediatric Rheumatic Disease

Arthritis Care &Research, EarlyView.
Pamela F. Weiss, Hermine I. Brunner
wiley   +1 more source

Sjögren Disease—B Cells at the Brink: From Autoimmunity to Lymphomagenesis and the Rise of Novel B Cell–Targeted Therapies

Arthritis &Rheumatology, EarlyView.
Sjögren disease (SjD) is a common systemic autoimmune disorder characterized by inflammation of the exocrine glands, resulting in dryness. Patients frequently exhibit extraglandular manifestations affecting various organ systems. To date, there are no US Food and Drug Administration (FDA)‐approved disease‐modifying therapies for SjD. In this review, we
Rachael A. Gordon, Sara S. McCoy
wiley   +1 more source

Impact of Evolving Treatment Patterns on Interstitial Lung Disease Progression in Systemic Sclerosis Using the European Scleroderma Trials and Research Database

Arthritis &Rheumatology, EarlyView.
Objective The treatment landscape for systemic sclerosis‐associated interstitial lung disease (SSc‐ILD) has evolved with increasingly available immunosuppressive therapies (ISTs) and antifibrotic treatments. However, their real‐world use remains unclear.
Corrado Campochiaro, Marie‐Elise Truchetet, Madelon Vonk, Giacomo De Luca, Giovanna Cuomo, Lidia P. Ananieva, Eric Hachulla, Vanessa Smith, Ana Maria Gheorghiu, Radim Becvar, Patricia Carreira, Nicolas Hunzelmann, Daniel E. Furst, Vera Ortiz‐Santamaria, Francesco Del Galdo, Marco Matucci‐Cerinic, Anna‐Maria Hoffmann‐Vold, EUSTAR collaborators   +17 more
wiley   +1 more source

Increased Cardiac Troponin T May Be a Marker of Worsening Skeletal Myopathy in Inclusion Body Myositis: A Case Report

Cardiology Discovery
. Previous studies have reported elevated cardiac troponin T (cTnT) in patients with inclusion body myositis due to skeletal myopathy. Although the trends of cTnT have been reported in some cases, the onset of elevation has barely been reported.
Zhiqing Fu, Xiujin Zhang, Hanjia Gao
doaj   +1 more source