Results 71 to 80 of about 2,611,676 (199)

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

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

Isolated left oculomotor nerve palsy following measles

, 2002
A 10-month-old boy was admitted with ptosis on the left eyelid, which rapidly occurred following a disease with rash about 20 days before admission to our hospital. By history, none of the vaccinations had been performed.
Caksen, H, Cakin, C, Tuncer, O, Acar, N, Atas, B, Odabas, D   +5 more
core   +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

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

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

Tonic Pupils with Exotropia Mimic Oculomotor Nerve Palsy

, 2023
Here we report a case of tonic pupils with exotropia mimic oculomotor nerve ...
Tian Tian, MD, PhD
core  

Definition of childhood visual impairment: A systematic overview of reviews and authoritative sources across clinical, research, and policy contexts

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aims To identify, synthesize, and compare current terminologies and definitions of cerebral visual impairment (CVI) in children across clinical, research, educational, and policy settings. Method We conducted a systematic overview of systematic reviews and authoritative documents registered in PROSPERO (CRD420251025233) and reported in ...
Martina Micai, Letizia Gila, Francesca Fulceri, Angela Caruso, Mara Sabbioni, Els Ortibus, Elisa Maria Fazzi, Corinna Bauer, John Ravencroft, Maria Luisa Scattoni   +9 more
wiley   +1 more source

Human cerebral arterial morphogenesis explored by 3D microscopic imaging of cleared embryos: Bridging the gap between embryonic and adult anatomy

Journal of Anatomy, EarlyView.
We provide a description of human embryonic cerebral arterial development based on whole‐mount immunostaining, tissue clearing, three‐dimensional (3D) light‐sheet microscopy imaging, and anatomically informed virtual segmentation of human embryos. Findings are compared with adult radiological anatomy. We provide a detailed account of the development of
Eimad Shotar, Raphaël Blain, Aymeric Nadjem, Nermine Saidi, Megumi Inoue, Daniel Smith‐Paredes, Miccaella Vergara, Armelle Lesaunier, Quentin Rappeneau, Joséphine Blevinal, Gérard Couly, Julien Burel, Julien Allard, Kevin Premat, Stéphanie Lenck, Pierre‐Marie Chiaroni, Erwah Kalsoum, Maryne Toupin, Séverine Mazaud‐Guittot, Diane Rebourcet, Paolo Giacobini, Olivier Naggara, Hugo Gortais, Grégoire Boulouis, Alexis Guédon, Philippe Gailloud, Frédéric Glicenstein, Anaïs Favre, Frédéric Clarençon, Yorick Gitton, Alain Chédotal   +30 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