Results 41 to 50 of about 8,301 (195)

Gene burden meta‐analysis of 748 879 individuals identifies LGI1‐ADAM23 protein complex association with epilepsy

Epilepsia, EarlyView.
Abstract Epilepsy affects more than 50 million individuals globally and has a substantial genetic component that remains to be completely understood. Traditional studies have focused on severe, early onset cases enrolled through clinical or research settings.
Jessica Castrillon Lal, Costin Leu, Christian M. Boßelmann, Alina Ivaniuk, Eduardo Pérez‐Palma, Dennis Lal   +5 more
wiley   +1 more source

Detection of interictal epileptiform discharges using multiple bilateral insertions of a newly developed microcatheter‐compatible endovascular electroencephalogram electrode: A clinical feasibility trial

Epilepsia Open, EarlyView.
Abstract Objective To assess the feasibility, technical performance, and safety of a novel endovascular electroencephalogram (eEEG) electrode, EP‐01, designed for minimally invasive seizure localization in patients with drug‐resistant epilepsy. Methods This single‐center, prospective, exploratory trial enrolled five patients with drug‐resistant ...
Kota Araki, Yosuke Masuda, Ayataka Fujimoto, Mitsuyo Nishimura, Hisayuki Hosoo, Hiroki Ishida, Takashi Enokizono, Kensuke Kawai, Eiichi Ishikawa, Yuji Matsumaru   +9 more
wiley   +1 more source

Surgical Treatment of Cavernous Sinus Cavernomas: Evidence from Vietnam

Reports, 2020
Cavernous sinus cavernomas, a rare vascular malformation, represents 3% of all benign cavernous sinus tumors. Both clinical and radiological signs are important for differentiating this condition from other cavernous sinus diseases. The best treatment is
Duc-Anh Nguyen, Hao The Nguyen, Thang Van Duong, Binh Hoa Pham, Hoang-Long Vo   +4 more
doaj   +1 more source

Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update

Dermatopathology, 2021
Our knowledge in vascular anomalies has grown tremendously in the past decade with the identification of key molecular pathways and genetic mutations that drive the development of vascular tumors and vascular malformations.
Isabel Colmenero, Nicole Knöpfel
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

Recovery Factor of Pure Helium Injection in Depleted Gas Reservoirs and Its Influencing Factors

Energy Science &Engineering, EarlyView.
This study employs compositional numerical simulation to systematically investigate the effects of injection rate, production rate, storage duration, and injection‐production scheme on pure helium recovery in depleted gas reservoirs. Low injection rates reduce viscous fingering while high production rates maximize near‐wellbore helium extraction ...
Shijie Zhu, Danlin Chen, Yang Wang, Zuping Xiang, Zhijun Li, Mengna Yang, Da Li   +6 more
wiley   +1 more source

Cavernous malformation of the optic chiasm with continuous hemorrhage in a pregnant woman: A case report

Interdisciplinary Neurosurgery, 2019
Background: Cavernous malformation of the anterior visual pathway is rare, especially in pregnant woman. Planning a treatment strategy with cross-disciplinary specialists is important.
Yusuke Tomita, MD, Kentaro Fujii, MD, PhD, Kazuhiko Kurozumi, MD, PhD, Ryoji Imoto, MD, Takashi Mitsui, MD, PhD, Sakurako Mishima, MD, Kenichi Inagaki, MD, PhD, Hisashi Masuyama, MD, PhD, Isao Date, MD, PhD   +8 more
doaj   +1 more source

Updated ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease 2025

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives To revise the 2018 European Reference Network for rare Inherited and Congenital Digestive and Gastrointestinal Anomalies (ERNICA) clinical guideline for the management of rectosigmoid Hirschsprung's disease (HSCR) based on new evidence and evolving clinical priorities, ensuring continued relevance, trustworthiness, and consistency ...
Daniel Rossi, Willemijn Irvine, Anna Löf Granström, Annika Mutanen, Roel Bakx, Kristin Bjørnland, Duccio Cavalieri, Piotr Czauderna, Anne Dariel, Mark Ellebæk, Francesco Fascetti Leon, Fabio Fusaro, Dirk‐Jan Gloudemans, Marietta Jank, Peter Kolja Kvist, Martin Lacher, Annette Lemli, Lucas Matthyssens, Louise Montalva, Pedro Palazon, Alessio Pini Prato, Lucie Pos, Roxana Rassouli‐Kirchmeier, Konrad Reinshagen, Nagoud Schukfeh, Rony Sfeir, Olivia Spivack, Pernilla Stenström, Lovisa Telborn, Eelke Toxopeus, Alejandra Vilanova, Miriam Wilms, Rene Wijnen, Cornelius E. J. Sloots, Mikko Pakarinen, Tomas Wester   +35 more
wiley   +1 more source

Transoral endoscopic surgical approach to venous malformation of the parapharyngeal space

SAGE Open Medical Case Reports, 2020
We encountered a rare case of venous malformation located in the parapharyngeal space. The 65-year-old female patient did not have any symptoms, and the malformation was discovered incidentally during a clinical survey.
Akari Kimura, Yutomo Seino, Taku Yamashita   +2 more
doaj   +1 more source

Marine Isotope Stage 4 glaciation in northern England, UK: Evidence from Victoria Cave, North Yorkshire

Journal of Quaternary Science, EarlyView.
ABSTRACT Victoria Cave, north Yorkshire, England, contains a long sequence of Pleistocene clastic sediments and calcite flowstones. Earlier work, using U–Th dating, established that the flowstone units formed in interglacial stages corresponding to Marine Isotope Stages (MIS) 13, 11, 9, 7 and 5.
Tom C. Lord, Peter Wilson, Joyce Lundberg, Adrian P. Palmer, Matt W. Telfer, Rhiannon E. Stevens, Phillip J. Murphy, Mark Lewis   +7 more
wiley   +1 more source