Results 41 to 50 of about 8,943 (144)

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

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

Diagnostic Gray Zone: Isolated Left Oculomotor Nerve Palsy in the Setting of Hyperhomocysteinemia, Sphenoid Sinusitis, and Rathke’s Cleft Cyst

International Journal of Medical Students
Rathke’s Cleft Cyst (RCC) is a benign, epithelium-lined cyst arising from remnants of Rathke’s pouch, typically located in the sellar or suprasellar region, and is a documented cause of oculomotor nerve palsy via compressive mechanisms.
Shaun Nevil, Umesh G, S Anton Charles, Sofia Mondal, Chaitra C S   +4 more
doaj   +1 more source

The life and work of professor Livery Osipovich Darkshevich (1858–1925). (to the 160th anniversary since the birth of)

Обозрение психиатрии и медицинской психологии имени В.М. Бехтерева, 2019
The main milestones of the life and work of L.O. Darkshevich. It is noted that the work of a professor on the study of the pathology of muscles and peripheral nerves is of great interest.
T. Sh. Morgoshiia, N. A. Syroezhin
doaj   +1 more source

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

Acute exercise‐induced improvements in cognition: Role of cerebral blood flow and metabolism

Experimental Physiology, EarlyView.
Abstract Physical activity is widely recognized for its ability to promote brain health, with acute exercise transiently enhancing cognition and long‐term training attenuating cognitive decline. However, the mechanisms underlying these benefits remain incompletely understood.
Takeshi Hashimoto, Shigehiko Ogoh
wiley   +1 more source

Prion Seeds Distribute throughout the Eyes of Sporadic Creutzfeldt-Jakob Disease Patients

mBio, 2018
Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common prion disease in humans and has been iatrogenically transmitted through corneal graft transplantation.
Christina D. Orrù, Katrin Soldau, Christian Cordano, Jorge Llibre-Guerra, Ari J. Green, Henry Sanchez, Bradley R. Groveman, Steven D. Edland, Jiri G. Safar, Jonathan H. Lin, Byron Caughey, Michael D. Geschwind, Christina J. Sigurdson   +12 more
doaj   +1 more source

Patient Experiences and Preliminary Effects of Virtual Reality Based Pain Treatment in Rheumatoid Arthritis Patients With Persistent Pain Despite Low Disease Activity: A Mixed Method Pilot Study

Musculoskeletal Care, Volume 24, Issue 3, September 2026.
ABSTRACT Objective This study aimed to examine the acceptability, usability, patient perceptions and preliminary effects of a virtual reality (VR) based pain management programme for people with rheumatoid arthritis with persistent pain despite low disease activity.
Stijn J. M. Temmink, Marlou A. Bakker, Demy D. Gerritsen, Mirjam C. Hegeman, Liza de Vries, Peter M. ten Klooster, Christina Bode, Harald E. Vonkeman   +7 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Orphanet Journal of Rare Diseases, 2011
Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar ...
Fujioka Shinsuke, Whaley Nathaniel, Wszolek Zbigniew K   +2 more
doaj   +1 more source