Results 51 to 60 of about 6,054 (170)

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

Asian 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, Shuji Hamauchi, Masayoshi Yamazaki, Kazutoshi Hida, Shunsuke Yano, Kiyohiro Houkin   +5 more
doaj   +1 more source

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

Neurourology and Urodynamics, EarlyView.
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, Mallory Pine, Viktoriya Sapkalova, Emily Chan Brodowsky, Charles R. Powell, Ramzy T. Burns   +5 more
wiley   +1 more source

Familial Chiari malformation: case series

, 2011
Chiari malformations (Types I–IV) are abnormalities of the posterior fossa that affect the cerebellum, brainstem, and the spinal cord with prevalence rates of 0.1%–0.5%.
Jean-Valery C. E. Coumans, Brian P. Walcott, Kristopher T. Kahle, Benjamin D. Schanker, Yan Michael Li, Brian V. Nahed   +5 more
core   +1 more source

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

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
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, Elena Moreno, Mar Meléndez, Carlos Giné, Carlota Rodó, Alba Casellas, Alba Farràs, Manel Mendoza, Nerea Maiz   +8 more
wiley   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Atypical Presentations of Type 1 Chiari Malformation; Hemiatrophic Extremities, and Hypothalamic Hypogonadism: A Case Reportt

Endocrinology Research and Practice, 2022
Type I Chiari malformations consist of herniation of the cerebellar tonsils through the foremen magnum and present with a variety of symptoms and signs described previously but hemiathrophy of extremities and hypothalamic hypogonadism are not ...
Ramazan Sarı, İbrahin Şahin, İrem Pembegül, Elmas Uzer   +3 more
doaj   +2 more sources

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

Frontiers 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, Aelita Kamalova, Razilya Rakhmaeva, Razilya Rakhmaeva, Gulnara Sageeva, Rezeda Safiullina, Adelina Raimova, Elena Gaichik, Dalal Nasr, Ayman A. Gobarah, Ayman A. Gobarah, Ahmed Arafat, Ahmed Arafat   +12 more
doaj   +1 more source

Clinical Efficacy of Minimally Invasive Subpial Tonsillectomy (MIST) for Treatment of Chiari Malformation (Type I) with Syringomyelia

Brain Science Advances, 2023
Objective: To investigate the clinical efficacy of minimally invasive subpial tonsillectomy (MIST) in the treatment of Chiari malformation (type I) with syringomyelia.
Hao Li, Zhiqiang Cui, Yong Liu
doaj   +1 more source

Long‐term outcomes in patients with postural orthostatic tachycardia syndrome with an average follow‐up of over 20 years

Journal of Internal Medicine, EarlyView.
Abstract Background Postural orthostatic tachycardia syndrome (POTS) is a chronic form of orthostatic intolerance that primarily affects female patients. There are scarce data evaluating the long‐term outcomes in POTS. Objectives This study sought to evaluate the long‐term impacts of POTS over multiple decades in adult patients.
Kate M. Bourne, Alfredo Gamboa, Bonnie Black, Juliette Hall, Italo Biaggioni, Cyndya A. Shibao, André Diedrich, Amanda Peltier, Giris Jacob, Luis Okamoto, Robert S. Sheldon, Satish R. Raj   +11 more
wiley   +1 more source

Chiari I malformation - a review

, 2017
Introduction: Chiari malformations (types I-IV) are a group of complex brain abnormalities in the lower posterior skull that can lead to herniation of cerebellar tonsils into the spinal canal, sometimes causing non-communicating hydrocephalus.
Ivanova, E., Tsvetanova, R., Marinova, Z., Nikolov, D., Moynov, M.   +4 more
core   +1 more source