Results 51 to 60 of about 16,340 (184)

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Recurrent painful ophthalmoplegic neuropathy: MRI findings in 2 patients

Radiology Case Reports, 2019
Recurrent painful ophthalmoplegic neuropathy is a form of cranial neuralgia and rare source of pediatric headache. We present 2 children who presented with headaches accompanied by visual symptoms including eye pain, blurry vision, and diplopia.
Arghavan Sharifi, BS, Samar Kayfan, BA, Rebekah L. Clarke, MD, Akshita Mehta, MD, Cory M. Pfeifer, MD, MS   +4 more
doaj   +1 more source

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

Virtual brain endocasts of the palaeanodont Metacheiromys marshi and the neurosensory evolution of early Pholidotamorpha

Journal of Anatomy, EarlyView.
We describe the endocranial anatomy of Metacheiromys marshi. Decrease in olfaction and eye movement control occurred through time in Pholidotamorpha and is likely linked to fossorial adaptations. The development of the orbital gyrus might be related to the evolution of myrmecophagy and the emergence of a protrusile tongue in early Pholidotamorpha ...
Eduard Cabasés Bru, Raquel Moya‐Costa, John R. Wible, Stephen L. Brusatte, Ornella C. Bertrand   +4 more
wiley   +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

A Rare Cause of Sudden Ptosis: Posterior Communicating Artery Aneurysm

Turkish Journal of Emergency Medicine, 2015
SUMMARY: A forty-seven-year-old female patient was admitted to our clinic with sudden ptosis and diplopia without pain. She had no trauma or systemic disease history. Ptosis and mydriasis were observed in her left eye.
Merve Fatma BOZKURT, Erdem DINC, Emis EKEN, Seyran BOZKURT, Cem SUNDU   +4 more
doaj   +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

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

Neurosyphilis Masquerading as an Acute Adie’s Tonic Pupil: Report of a Case

Case Reports in Ophthalmology, 2011
We describe the case of a male patient who presented with anisocoria, and was initially diagnosed with an acute Adie’s tonic pupil. On subsequent laboratory testing, he was found to have neurosyphilis.
Gerardo D. Camoriano, Jacinthe Kassab, Amar Suchak, Howard V. Gimbel   +3 more
doaj   +1 more source