Results 31 to 40 of about 8,739 (133)

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

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

“Sentinel Oculomotor Nerve Palsy”: A Harbinger of Subarachnoid Hemorrhage

Case Reports in Neurological Medicine
Subarachnoid hemorrhage (SAH) is a life-threatening condition most commonly caused by aneurysmal rupture. Sentinel headaches, often described as the “worst headache of life” or a “thunderclap headache,” are critical warning signs that may precede SAH ...
Vijay Renga
doaj   +1 more source

Oculomotor Nerve Palsy following Cardiac Tamponade with Churg-Strauss Syndrome: A Case Report

Case Reports in Neurology, 2011
A 57-year-old man with a history of more than 10 years of bronchial asthma and chronic sinusitis complained of double vision which developed 18 days after cardiac tamponade with eosinophil-rich fluid (eosinophils 30%).
Kazuki Suganuma, Takao Hashimoto, Hiromasa Sato, Tomohiro Suzuki, Shunpei Sakurai   +4 more
doaj   +1 more source

Neonatal Assessment Visual European Grid accuracy in detecting infants born preterm at risk of neurological impairment

Developmental Medicine &Child Neurology, EarlyView.
NAVEG: a screening tool for detecting preterm newborn at risk of neurolocal impairment, key findings and diagnostic accuracy. Abstract Aim To analyse the factorial structure of the Neonatal Assessment Visual European Grid (NAVEG), its diagnostic accuracy, the discriminative capacity of its individual items, and total score in detecting infants born ...
Elisa Fazzi, Laura Malerba, Jessica Galli, Salvatore Aversa, Lotfi B. Merabet, Francesco Risso, Andrea Rossi, NAVEG Group, Patrizia Accorsi, Anna Alessandrini, Sabina Bettelli, Nicole D'adda, Erika Loi, Michela Gritti, Paola Martelli, Paola Mattei, Giuseppe Nascimbeni, Federica Tansini, Francesco Semeraro, Vania Spinoni, Serena Micheletti, Giulia Balboni   +21 more
wiley   +1 more source

Pituitary Apoplexy Causing Compression of Third Cranial Nerve—Management

Indian Journal of Neurosurgery, 2019
Lesions of the oculomotor nerve as the first sign of pituitary adenoma are rare. The cause of such lesions without other clinical symptoms is discussed in this study.
Václav Masopust
doaj   +1 more source

Visual, vestibular, and ocular motor changes during nitroglycerin‐triggered vestibular migraine

Headache: The Journal of Head and Face Pain, EarlyView.
Plain Language Summary Vestibular migraine (VM) is a common cause of intermittent dizziness, but there have been no studies with provoked (induced) VM used to characterize how the vestibular and ocular (vision) systems interact. We injected 20 patients with VM with nitroglycerin to provoke an attack and used a specialized camera to record their eye ...
Maria Dolores Villar‐Martinez, Francesca Puledda, Caroline Domingos‐Belo, Adolfo M. Bronstein, Peter J. Goadsby   +4 more
wiley   +1 more source

Trigeminal and facial branchiomotor neurons have shared muscle targets in zebrafish larvae

Journal of Anatomy, EarlyView.
Cranial nerve innervation map, based on previous studies, shows the trigeminal and facial motor nerves confined to the mandibular and hyoid arch muscles, respectively, except for the trigeminal nerve in the interhyoideus muscle (M.IH). The revised cranial nerve innervation map, based on this study, shows the facial nerve in the intermandibularis ...
Ritika Ghosal, Kimberly L. McArthur, Johann K. Eberhart   +2 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 Case of Extra-axial Cavernous Angioma Originating from the Oculomotor Nerve

Indian Journal of Neurosurgery, 2016
We report a case of extra-axial cavernous angioma, which originated from the oculomotor nerve and, by hemorrhaging, resulted in oculomotor nerve palsy. Cavernous angioma generally occurs in the brain parenchyma. Therefore, this case is extremely rare. We
Toshitaka Inui, Hiroyuki Hashimoto, Kenta Fujimoto, Tateo Shimokawara, Mitsuhisa Nishiguchi, Syohei Yokoyama, Koji Omoto, Ryuta Matsuoka, Takahide Yaegaki   +8 more
doaj   +1 more source