Results 81 to 90 of about 309,057 (256)
The pathogenesis of Chiari I malformation and syringomyelia
, 2011 The pathogeneses of Chiari malformation type I and syringomyelia are incompletely understood. In this article, the authors attempt to review the current theories on the pathogeneses of Chiari I malformation and syringomyelia.
Alperin, Noam +4 more
core +1 more source
Saudi Journal of Anaesthesia, 2011 Anesthetic technique in parturient with syringomyelia and Arnold-Chiari malformation is variable depending on the teams. Difficult intubation is one of the risks when general anesthesia is opted.
Bensghir Mustapha +5 more
doaj +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Severe Papilledema Associated With Chiari I Malformation
, 2022 Chiari I malformation involves downward displacement of the cerebellar tonsils through the foramen magnum. Though rare, papilledema has been attributed to Chiari I malformation, and in a few cases surgical decompression has been shown to resolve the ...
Elena Muro-Fuentes; Gregory Van Stavern; Leanne Stunkel
core
Chiari Malformation with Thick Occipital Bone [PDF]
, 2011 A case of a Chiari malformation with an extraordinarily thick occipital bone is described. The thick occipital bone might make the posterior fossa narrow with consequent herniation of the cerebellar tonsils to the foramen magnum and formation of a syrinx.
Date, Isao +2 more
core +1 more source
35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2010-2018, September 2026.ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li +25 more
wiley +1 more source
Idiopathic intracranial hypertension in a patient with Chiari I malformation
, 2015 Recibido 09 diciembre 2013, Aceptado 08 abril 2014Caso clínico: mujer de 22 años que consultó por cefalea y disminución de la visión. Presentaba papiledema asimétrico y, en las pruebas de imagen, un descenso amigdalar de 6mm, siendo diagnosticada de ...
Gegúndez Fernández, José Antonio +6 more
core +1 more source
A frontal lobe mass in a 6‐year‐old girl
Brain Pathology, EarlyView.
Francesca S. Vacca +5 more
wiley +1 more source
Cochrane Evidence Synthesis and Methods, Volume 4, Issue 5, September 2026.ABSTRACT Introduction Artificial intelligence (AI) is a branch of technology enabling machines to emulate complex human skills; it can also entail problem‐solving using bioinspired methods. It is used for automating systematic literature reviews (SLR), that is, defining a clinical question, locating relevant literature, preliminary screening, study ...
Ana M. Barragán +5 more
wiley +1 more source
Radiologic technology, 2009 Chiari malformations can be serious conditions and their diagnosis often confounds clinicians. When patients present with Chiari malformations, they may have no symptoms or a range of symptoms, many of which can be confused with other neurological conditions.
Donna L, Caldwell +2 more
openaire +3 more sources