Results 41 to 50 of about 9,217 (184)

Novel planning pipeline utilizing the Surgical Theater system for pediatric epilepsy surgery

Epilepsia Open, EarlyView.
Abstract Objective Advances in the analysis and collation of radiographic datasets have enhanced presurgical planning for various neurosurgical procedures, including clipping of cerebral aneurysms, surgical resection of tumors, and arteriovenous malformation management.
Lisa B. E. Shields, Hunain Abri, Cemal Karakas, Shannon D. Davis, Ian S. Mutchnick   +4 more
wiley   +1 more source

Anestesia pada Tindakan Dekompresi Foramen Magnum pada Pasien dengan Malformasi Arnold Chiari

Jurnal Neuroanestesi Indonesia, 2013
Malformasi Arnold Chiari tipe 1 adalah pergeseran tonsil serebellum kearah kaudal kanalis spinalis tulang belakang servikal melalui foramen magnum. Siringomielia adalah gangguan degeneratif progresif yang ditandai dengan amiotropi brakhial dan kehilangan
Nazaruddin Umar, Haryo Prabowo, Tasrif Hamdi   +2 more
doaj   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Update on the pathophysiology and management of syringomyelia unrelated to Chiari malformation

Neurología (English Edition), 2019
Introduction: Much has been published on syringomyelia related to Chiari malformation. In contrast, little is known about the condition when it is not associated with this malformation, but this presentation of syringomyelia constitutes a different ...
J. Giner, C. Pérez López, B. Hernández, Á. Gómez de la Riva, A. Isla, J.M. Roda   +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

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

Klippel-Trenaunay syndrome and chiari I malformation. A case report and systematic review of the literature

Brain and Spine
Introduction: Klippel-Trenaunay Syndrome (KTS) is a rare congenital condition characterized by vascular malformations, bone abnormalities, and limb overgrowth.
D. Giakoumettis, T. Vogiatzoglou, G. Vavoulis, B. Almasarwah, K. Tilidou, A. Tsitlakidis, K. Vlachos   +6 more
doaj   +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

Chiari malformations

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.
Jeremy Jones, Frank Gaillard, Rohit Sharma   +2 more
openaire   +3 more sources

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