Results 81 to 90 of about 9,841 (192)

Video-EEG in Infantile Spasms

open access: yesPediatric Neurology Briefs, 2001
Early electroclinical manifestations and treatment responses were evaluated by video-EEG in 44 infants with infantile spasms.
J Gordon Millichap
doaj   +1 more source

Cerebral visual impairment (CVI) overlooked: A retrospective review of missed opportunities to diagnose CVI

open access: yesOphthalmic and Physiological Optics, EarlyView.
Abstract Purpose Cerebral Visual Impairment (CVI) is the leading cause of paediatric visual impairment in developed countries. Earlier diagnosis provides access to early intervention, which may improve visual function, functional vision and developmental outcomes.
Melissa L. Rice   +4 more
wiley   +1 more source

ACTH in Infantile Spasms

open access: yesPediatric Neurology Briefs, 1990
The relationship between dose of ACTH and the initial effect and long-term prognosis was investigated in 41 children with infantile spasms at the Department of Pediatrics, Kyoto University, Kyoto, Japan.
J Gordon Millichap
doaj   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim   +2 more
wiley   +1 more source

Comorbidities in Mild WAS/XLT Require Lifelong Follow‐Up and Consideration of Definitive Treatment

open access: yesAmerican Journal of Hematology, Volume 100, Issue 11, Page 2004-2016, November 2025.
Our study followed the clinical and biological course of 261 WAS/XLT patients, including 170 with a mild form of the disease. The occurrence of late complications even in mild patients confirms the importance of offering lifelong follow‐up and considering definitive treatment (HSCT/gene therapy) for all patients.
Coralie Mallebranche   +16 more
wiley   +1 more source

Immunologic Evaluation in the Patients with Infantile Spasm [PDF]

open access: hybrid, 2013
Eda Özaydın   +4 more
openalex   +1 more source

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