Results 11 to 20 of about 61,577 (279)

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 37-51, January 2023., 2023
Abstract Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder (HCTD) characterized by arterial dissection/aneurysm/rupture, sigmoid colon rupture, or uterine rupture. Diagnosis is confirmed by detecting heterozygous variants in COL3A1.
Tomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, Takeshi Matsuyama, Norimichi Koitabashi, Kenichi Ogiwara, Masaaki Noda, Chiai Nakada, Shinya Fujiki, Akira Furutachi, Yasuhiko Tanabe, Michiko Yamanaka, Aki Ishikawa, Miyako Mizukami, Asako Mizuguchi, Kazumitsu Sugiura, Makoto Sumi, Hirokuni Yamazawa, Atsushi Izawa, Yuko Wada, Tomomi Fujikawa, Yuri Takiguchi, Keiko Wakui, Kyoko Takano, Shin‐Ya Nishio, Tomoki Kosho   +25 more
wiley   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

Poor expression of miR‐195‐5p can assist the diagnosis of cerebral vasospasm after subarachnoid hemorrhage and predict adverse outcomes

Brain and Behavior, Volume 12, Issue 12, December 2022., 2022
Abstract Objective Patients with spontaneous subarachnoid hemorrhage (SAH) may develop refractory arterial cerebral vasospasm (CVS), which is the leading cause of death in SAH patients. This study explored the clinical diagnostic value of serum miR‐195‐5p levels in CVS after SAH (SAH + CVS) and its relationship with the prognosis of SAH + CVS.
Yong Li, Senyuan Yang, Xiaobin Zhou, Runlong Lai   +3 more
wiley   +1 more source

Simulation‐based team‐training in acute stroke: Is it safe to speed up?

Brain and Behavior, Volume 12, Issue 12, December 2022., 2022
Abstract Background In acute ischemic stroke (AIS), rapid treatment with intravenous thrombolysis (IVT) is crucial for good clinical outcome. Weekly simulation‐based team‐training of the stroke treatment team was implemented, resulting in faster treatment times.
Liv Jorunn Høllesli, Soffien Chadli Ajmi, Martin W. Kurz, Thomas Bailey Tysland, Morten Hagir, Ingvild Dalen, Sigrun Anna Qvindesland, Hege Ersdal, Kathinka D. Kurz   +8 more
wiley   +1 more source

Treatment‐related adverse events of antibody–drug conjugates in clinical trials: A systematic review and meta‐analysis

Cancer, Volume 129, Issue 2, Page 283-295, 15 January 2023., 2023
Abstract Background Antibody–drug conjugates (ADCs) have complex molecular structures and have been tested in numerous clinical trials. Therefore, understanding the mechanisms of their toxicity when applied in medical practice is of high importance. Methods In a systematic review and meta‐analysis of data gathered from different scientific databases ...
Youwen Zhu, Kun Liu, Kailing Wang, Hong Zhu   +3 more
wiley   +1 more source

Microglia activation, classification and microglia-mediated neuroinflammatory modulators in subarachnoid hemorrhage

Neural Regeneration Research, 2022
Subarachnoid hemorrhage is a devastating disease with significant mortality and morbidity, despite advances in treating cerebral aneurysms. There has been recent progress in the intensive care management and monitoring of patients with subarachnoid ...
Junfan Chen, Zhiyuan Vera Zheng, Gang Lu, Wai Yee Chan, Yisen Zhang, George Kwok Chu Wong   +5 more
doaj   +1 more source

Anterior Communicating Artery Aneurysm Uncommon Hemorrhagic Presentation: Case Report

Brazilian Neurosurgery, 2020
Intracranial aneurysm rupture causes subarachnoid hemorrhage in 80% of the cases, and it may be associated with intracerebral hemorrhage and/or intraventricular hemorrhage (IVH) in 34% and 17% of the patients, respectively.
Dan Zimelewicz Oberman, Nicollas Nunes Rabelo, Rafael Rego Barros, Othavio Lopes, Jorge Amorim   +4 more
doaj   +1 more source

Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants

Human Mutation, Volume 43, Issue 12, Page 1824-1828, December 2022., 2022
Abstract Pathogenic variants in JAG1 are known to cause Alagille syndrome (ALGS), a disorder that primarily affects the liver, lung, kidney, and skeleton. Whereas cardiac symptoms are also frequently observed in ALGS, thoracic aortic aneurysms have only been reported sporadically in postmortem autopsies.
Jotte Rodrigues Bento, Alice Krebsová, Ilse Van Gucht, Irene Valdivia Callejon, An Van Berendoncks, Pavel Votypka, Ilse Luyckx, Petra Peldova, Steven Laga, Marek Havelka, Lut Van Laer, Pavel Trunecka, Nele Boeckx, Aline Verstraeten, Milan Macek, Josephina A. N. Meester, Bart Loeys   +16 more
wiley   +1 more source

Target inhibition of caspase-8 alleviates brain damage after subarachnoid hemorrhage

Neural Regeneration Research, 2020
Caspase-8 plays an important role in the mediation of inflammation and the effect of its role in subarachnoid hemorrhage remains elusive. The nucleotide-binding oligomerization domain-like receptor protein 3 inflammasome has been postulated to mediate ...
Da-Qiang Ke, Zhi-Yang Chen, Zhou-Ling Li, Xia Huang, Hui Liang   +4 more
doaj   +1 more source

Epidemiology of Subarachnoid Hemorrhage in Isolated Islands in Japan: A Population-based Study in the Miyako Islands

Neurologia Medico-Chirurgica, 2023
The Miyako Islands (with a population of approximately 50,000) are located in southwestern Japan, with a subtropical oceanic climate. This isolated location permitted a retrospective population-based epidemiological study of subarachnoid hemorrhage.
Naoki WAKUTA, Kenji FUKUDA, Masaki TAKAHARA, Satoshi YAMAMOTO, Hisatomi ARIMA, Eiji MOTONAGA, Tooru INOUE   +6 more
doaj   +1 more source