Results 231 to 240 of about 142,542 (339)

5-Hydroxyindoles in mongolism and hydrocephalus. [PDF]

, 1969
Victor Dubowitz, Katherine Rogers
openalex   +1 more source

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi, Ghaida Alghamdi, Khalid Hundallah, Dima Jamjoom, Naif Almontashiri, Essa Alharbi, Muhammad Umair, Majid Alfadhel   +7 more
wiley   +1 more source

A radiological finding suggesting Blake's pouch cyst: A rare pediatric anomaly associated with hydrocephalus - A case report. [PDF]

Surg Neurol Int
Makkiyah FA, Yusuf E, Badri R.
europepmc   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Expert Strategies: Skull Base Reconstruction—Global Perspectives, Insights, and Algorithms through a Mixed Methods Approach

International Forum of Allergy &Rhinology, Volume 15, Issue 10, Page 1032-1069, October 2025.
ABSTRACT Objective There is limited consensus on endoscopic skull base surgery (ESBS) reconstruction principles. This study aims to generate comprehensive themes regarding ESBS reconstruction by pooling the experiences of ESBS experts, with comparison to a literature review of current published evidence.
Edward C. Kuan, Vidit Talati, Jagatkumar A. Patel, Theodore V. Nguyen, Arash Abiri, Jonathan C. Pang, Khodayar Goshtasbi, Lauren Liu, John R. Craig, Peter Papagiannopoulos, Katie M. Phillips, Bobby A. Tajudeen, Nithin D. Adappa, James N. Palmer, Ahmad R. Sedaghat, Eric W. Wang, Vijay Anand, Pete S. Batra, Marvin Bergsneider, Manuel Bernal‐Sprekelsen, Benjamin S. Bleier, Paolo Cappabianca, Ricardo L. Carrau, Roy R. Casiano, Paolo Castelnuovo, Luigi M. Cavallo, Marc A. Cohen, Iacopo Dallan, Jean Anderson Eloy, Ivan H. El‐Sayed, James J. Evans, Juan C. Fernandez‐Miranda, Marco Ferrari, Sebastien Froelich, Paul A. Gardner, Christos Georgalas, Stacey T. Gray, Ehab Y. Hanna, Richard J. Harvey, Sang Duk Hong, Peter H. Hwang, Daniel F. Kelly, Doo‐Sik Kong, Ming‐Ying Lan, John Y. K. Lee, Corinna G. Levine, James K. Liu, Davide Locatelli, Cem Meço, Erin L. McKean, Piero Nicolai, Gurston G. Nyquist, Kazuhiro Omura, Thibault Passeri, Zara M. Patel, Maria Peris Celda, Carlos Pinheiro Neto, Danny M. Prevedello, Mindy R. Rabinowitz, Shaan M. Raza, Pablo F. Recinos, Marc R. Rosen, Zoukaa B. Sargi, Rodney J. Schlosser, Theodore H. Schwartz, Raj Sindwani, Carl H. Snyderman, Aldo C. Stamm, Brian D. Thorp, Mario Turri‐Zanoni, Marilene B. Wang, Wei‐Hsin Wang, Ian J. Witterick, Tae‐Bin Won, Bradford A. Woodworth, Peter‐John Wormald, Gabriel Zada, Shirley Y. Su   +77 more
wiley   +1 more source

Subacute Progression of Gait Disturbance and Consciousness Impairment Due to Communicating Hydrocephalus Associated With Vestibular Schwannoma. [PDF]

Cureus
Yano S, Kubota A, Kawai M, Yashita D, Ishiura H, Satake W, Yamada K, Shinya Y, Miyawaki S, Iwatsubo T, Toda T.   +10 more
europepmc   +1 more source

Endoscopic third ventriculostomy in children: prospective, multicenter results from the Hydrocephalus Clinical Research Network.

Journal of Neurosurgery: Pediatrics, 2016
A. Kulkarni, J. Riva‐Cambrin, R. Holubkov, S. Browd, D. Cochrane, J. Drake, D. D. Limbrick, C. Rozzelle, T. D. Simon, M. Tamber, J. Wellons, W. Whitehead, J. Kestle, _   +13 more
semanticscholar   +1 more source

A young man with multifocal brainstem leptomeningeal disease

Brain Pathology, Volume 35, Issue 6, November 2025.
Burana Khiankaew, Pornphan Sae‐Sim, Pichet Termsarasab, Oranan Tritanon, Theeraphol Panyaping, Paisarn Boonsakan, Vichan Peonim, Virawudh Soontornniyomkij   +7 more
wiley   +1 more source

Anticholinergics, executive function, and cognitive/behavioral changes in Down syndrome

Alzheimer's &Dementia, Volume 21, Issue 10, October 2025.
Abstract INTRODUCTION Anticholinergic (AC) medication use is considered a risk factor for cognitive impairment and deterioration in the general population; yet, this has not been examined in Down syndrome (DS), a disorder with high dementia rates. METHODS Family members of 108 young adults with DS (18–39 years) reported on their loved one's medication ...
Nancy Raitano Lee, Goldie A. McQuaid, Haila Jiddou, Jessica McNulty, Hannah E. Grosman, Kamaria T. Tucker, Meghan O'Brien, Gregory L. Wallace   +7 more
wiley   +1 more source

A Rare Presentation of Posterior Reversible Encephalopathy Syndrome in a Previously Healthy Young Male: A Case Report. [PDF]

Cureus
Goyal J, McMasters M, Jordan M, Randive R.   +3 more
europepmc   +1 more source