Results 51 to 60 of about 5,376 (172)

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

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

Эпилепсия 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  

A less invasive suboccipital decompression-cranioplasty for Chiari type I malformation: Is it beneficial?

Interdisciplinary Neurosurgery, 2018
This was a retrospective study of 10 Chiari Malformation type I patients who were treated by the author since 2010–2016. This study aims to elucidate the benefit of modified foramen magnum decompression by preserving the bone as propose upside down ...
G.B. Mahadewa Tjokorda, G.A. Senapathi Tjokorda   +1 more
doaj   +1 more source

Task-specific and general cognitive effects in Chiari malformation type I. [PDF]

PLoS ONE, 2014
OBJECTIVE: Our objective was to use episodic memory and executive function tests to determine whether or not Chiari Malformation Type I (CM) patients experience cognitive dysfunction.
Philip A Allen, James R Houston, Joshua W Pollock, Christopher Buzzelli, Xuan Li, A Katherine Harrington, Bryn A Martin, Francis Loth, Mei-Ching Lien, Jahangir Maleki, Mark G Luciano   +10 more
doaj   +1 more source

Generalised absence seizures in Cavalier King Charles Spaniels presenting with paroxysms: eight cases (2016‐2025)

Journal of Small Animal Practice, EarlyView.
Objectives To describe the clinical and electroencephalographic findings associated with absence seizures in a population of Cavalier King Charles Spaniels. Materials and Methods This was a retrospective descriptive case series of Cavalier King Charles Spaniels diagnosed with absence seizures at two veterinary referral hospitals between 2016 and 2025 ...
R. Paterson, C. McKenna, G. Kadler, M. Arsenault, G. Mallet, A. Chan, V. Sammut, G. Leblond, S. Lim, M. Cortez, F. James   +10 more
wiley   +1 more source