Results 41 to 50 of about 361,175 (190)

Incidental Detection of Arnold Chiari – I Malformation on MRI in a Case of Neck Pain [PDF]

open access: yesInternational Journal of Anatomy Radiology and Surgery, 2016
Chiari malformations are spectrum of congenital hindbrain abnormalities. With advancing use of MR imaging, Chiari malformation is discovered with increasing frequency.
Pokhraj Prakashchandra Suthar   +3 more
doaj   +1 more source

Abnormalities in auditory evoked potentials of 75 patients with Arnold-Chiari malformations types I and II [PDF]

open access: yesArquivos de Neuro-Psiquiatria, 2006
OBJECTIVE: To evaluate the frequency and degree of severity of abnormalities in the auditory pathways in patients with Chiari malformations type I and II.
Paulo Sergio A. Henriques Filho   +1 more
doaj   +1 more source

[Arnold-Chiari I malformation: three unusual manifestations].

open access: yes, 2005
BACKGROUND Arnold-Chiari Syndrome I is a malformation of the cervicomedullary junction, manifesting usually with downbeat nystagmus, palsy of the caudal cerebral nerves, headache, and vertigo. PATIENTS AND METHODS We present three patients with unusual
Mojon D, Pellanda N
core   +1 more source

Role of MRI in Selection of Patients for Surgery and Assessing the Post Operative Outcome in Chiari 1 Malformation [PDF]

open access: yesInternational Journal of Anatomy Radiology and Surgery, 2017
Introduction: Chiari malformation also known as ArnoldChairi malformation is a malformation of the skull. They are of four types among them Chiari 1 malformation is most common.
Rajesh Kumar V   +4 more
doaj   +1 more source

Arnold Chiari type III malformation. A case report

open access: yes, 2023
<p><strong>Background</strong></p><p>Arnold-Chiari malformation is a rare disease, which consists of an anatomical alteration of the base of the skull, in which herniation of the cerebellum and brain stem occurs through the ...
William Francisco Rodriguez Buezo M.D.   +1 more
core   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli   +11 more
wiley   +1 more source

Acquired Chiari malformation type I associated with a supratentorial fistulous arteriovenous malformation: a case report

open access: yes, 2017
A case of acquired Chiari malformation type I with frontal fistulous arteriovenous malformation (AVM) is presented, and the pathophysiology is discussed. The tonsillar herniation and hydrocephalus both resolved after AVM was excised.
杜永光;郭夢菲;李崇維   +1 more
core   +1 more source

Combined Spinal-Epidural Analgesia for Laboring Parturient with Arnold-Chiari Type I Malformation: A Case Report and a Review of the Literature

open access: yesCase Reports in Anesthesiology, 2013
Anesthetic management of laboring parturients with Arnold-Chiari type I malformation poses a difficult challenge for the anesthesiologist. The increase in intracranial pressure during uterine contractions, coughing, valsalva maneuvers, and expulsion of ...
Clark K. Choi, Kalpana Tyagaraj
doaj   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

open access: yesAmerican 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

Open meningocele associated with a cervical spinal arachnoid cyst and Arnold Chiari malformation type II, a case report

open access: yesArchives of Pediatric Neurosurgery, 2022
Introduction: Spina bifida is a congenital malformation involving the vertebral spine with different presentations ranging from occult defects to large cutaneous defects exposing tissue and nerves.
Yamila Basilotta Marquez   +4 more
doaj   +1 more source

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