Results 141 to 150 of about 52,376 (272)
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
eJHaem, Volume 7, Issue 5, October 2026.ABSTRACT Sporadic late‐onset nemaline myopathy (SLONM) is a rare, acquired myopathy often associated with monoclonal gammopathy. We report a 48‐year‐old man presenting with progressive proximal and truncal muscle weakness in whom SLONM associated with smoldering myeloma was highly suspected.
Kenji Moriwaki +5 more
wiley +1 more source
Muscle &Nerve, Volume 74, Issue 4, Page 1156-1173, October 2026.ABSTRACT Thymoma is the most common tumor of the anterior mediastinum. Approximately 20%–30% of patients with a thymoma develop myasthenia gravis (MG), and an additional one third may possess positive acetylcholine receptor (AChR) antibodies without MG.
Benjamin Claytor +5 more
wiley +1 more source
Myasthenia gravis in dogs [PDF]
, 2018 Myasthenia gravis är en sjukdom som drabbar den neuromuskulära överföringen. Den förekommer i två former: kongenital (medfödd) och förvärvad. Kongenital myasthenia gravis beror på en defekt i acetylkolinreceptorn (AChR), som orsakas av olika mutationer ...
Andersson, Petra
core
INtraVESical immunoTherapy (INVEST) prior to radical cystectomy for bladder cancer: trial protocol
BJU International, Volume 138, Issue 4, Page 607-619, October 2026.Background High‐risk non‐muscle‐invasive bladder cancer (HRNMIBC) has a variable prognosis, managed predominantly by local surgical resection and intravesical Bacillus Calmette–Guérin (BCG), or radical cystectomy (RC). Current treatments are poorly tolerated, have supply limitations and often fail to control the disease.
Ruby Lister‐Whelan +13 more
wiley +1 more source
Outcomes of Treatment in Ocular Myasthenia Gravis Based on Minimal Manifestation: A Real-World Retrospective Cohort Study [PDF]
Parinee Kemchoknatee,1 Boonravee Santitamrongvtit,2 Thansit Srisombut3 1Department of Ophthalmology, Rajavithi Hospital, Rangsit University, Bangkok, Thailand; 2Department of Medicine, Phra Nang Klao Hospital, Nonthaburi, Thailand; 3Department of ...
Santitamrongvtit B +2 more
core
Journal of Internal Medicine, Volume 300, Issue 4, Page 461-479, October 2026.Abstract Systemic lupus erythematosus (SLE; lupus) remains a particular challenge for the practicing clinician on account of its chronic undulating and unpredictable course, its diverse manifestations, and—until recently—limited treatment options all associated with considerable downsides.
Ronald van Vollenhoven
wiley +1 more source
Immune Checkpoint Inhibitor–Related Myositis and Associated Triad Overlap Syndrome
Arthritis Care &Research, Volume 78, Issue 9, Page 1123-1129, September 2026.Objective Immune checkpoint inhibitor (ICI) myositis is a rare but a highly morbid condition, particularly with the ICI myositis triad syndrome of myositis, myocarditis, and myasthenia gravis. We report the clinical characteristics of ICI myositis and all‐cause mortality in these patients.
Selene Rubino +9 more
wiley +1 more source