Results 51 to 60 of about 27,985,342 (173)

Not all cases of nyctalopia are benign: Unusual and serendipitous presentation of Arnold–Chiari Type 1 malformation at a Pediatric Tertiary Care Center

open access: yesJournal of Pediatric Neurosciences, 2016
The Arnold–Chiari Type 1 malformation (CM1) is a rare congenital abnormality characterized by ectopia or caudal herniation of the cerebellar tonsils through the foramen magnum into the cervical spine, resulting in crowding at the craniocervical junction.
Kailash Chandra Patra   +1 more
doaj   +1 more source

Investigation of the Neuropathic Pain Caused by Syringomyelia Associated with Chiari I Malformation [PDF]

open access: yesAsian Spine Journal, 2019
Study Design Retrospective cohort study. Purpose To investigate the correlation between the syrinx morphology and neuropathic pain caused by syringomyelia associated with Chiari I malformation.
Toshitaka Seki   +5 more
doaj   +1 more source

Beyond Joint Hypermobility: Investigating Bladder Dysfunction in Hypermobile Ehlers‐Danlos Syndrome

open access: yesNeurourology and Urodynamics, Volume 45, Issue 8, Page 1687-1691, November 2026.
ABSTRACT Introduction and Objectives Hypermobile Ehlers‐Danlos Syndrome (hEDS) is the most common subtype of Ehlers‐Danlos Syndrome, a group of connective tissue disorders caused by collagen abnormalities. While musculoskeletal features of hEDS are well characterized, its impact on visceral organs, including the bladder, remains underexplored.
Marium Ansari   +5 more
wiley   +1 more source

Sleep disordered breathing in children and adolescents with Chiari malformation type I

open access: yes, 2013
Chiari malformation Type I (CM-I) has been associated with sleep disordered breathing (SDB). The aim of this study was to evaluate the prevalence of SDB in CM-I and its clinical correlates in a population of children and ...
Di Blasi, Chiara   +9 more
core   +1 more source

Cyclical vomiting syndrome secondary to a Chiari I malformation - a case report [PDF]

open access: yes, 2017
Background: Cyclical vomiting syndrome is a disorder characterised by recurrent episodes of profuse vomiting. There are no cases in the literature on the management of children with presenting with cyclical vomiting syndrome and a Chiari malformation ...
Campbell, D.I.   +9 more
core   +1 more source

Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report

open access: yesFrontiers in Pediatrics
BackgroundAcid sphingomyelinase deficiency (ASMD) type A/B, a rare lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene, presents with variable visceral and neurological manifestations.
Aelita Kamalova   +12 more
doaj   +1 more source

Anatomical–Motor Level Discrepancy in Prenatal Diagnosis of Open Spinal Dysraphism: A 12‐Year Retrospective Observational Study

open access: yesBJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 12, Page 2188-2195, November 2026.
ABSTRACT Objectives To quantify the discrepancy between anatomical and motor levels in foetuses with open spinal dysraphism and identify prenatal factors associated with this difference. We also examined associations between anatomical level and ultrasound findings. Design Retrospective observational study.
Silvia Arévalo   +8 more
wiley   +1 more source

THE FEATURES OF SEIZURES WHICH OCCUR AS THE RESULT OF A TRAUMATIC BRAIN INJURY IN THE PATIENTS WITH CHIARI MALFORMATION TYPE I

open access: yesЭпилепсия и пароксизмальные состояния, 2016
The traumatic brain injury (TBI), hypoxia, structural brain abnormalities are important causative factors for development of epilepsy. Posttraumatic epilepsy (PTE) is estimated to constitute 5% of all cases of epilepsy and over 20% of cases of ...
M. R. Yarmukhametova
doaj  

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

open access: yesClinical Genetics, Volume 110, Issue 5, Page 627-636, November 2026.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart   +17 more
wiley   +1 more source

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