Results 81 to 90 of about 594,429 (316)

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Sexuality and bleeding in von Willebrand disease

Research and Practice in Thrombosis and Haemostasis
Background: Sexuality is a fundamental aspect of quality of life, often impacted by chronic or inherited diseases like von Willebrand disease (VWD), an inherited bleeding disorder characterized by mucosal bleeding, including heavy menstrual bleeding (HMB)
Calvin B. van Kwawegen, Hester Pastoor, Jeroen Eikenboom, Karin Fijnvandraat, Paula Ypma, Floor C.J.I. Heubel-Moenen, Karin P.M. van Galen, Evelien P. Mauser-Bunschoten, Karina Meijer, Saskia E.M. Schols, Marjon H. Cnossen, Johanna G. van der Bom, Joke de Meris, Ferdows Atiq, Marieke J.H.A. Kruip, Frank W.G. Leebeek, K. Fijnvandraat, M. Coppens, J. de Meris, K. Meijer, R.Y.J. Tamminga, P.F. Ypma, H.C.J. Eikenboom, J.G. van der Bom, F.J.W. Smiers, F.C.J.I. Heubel-Moenen, A. van der Veer, S.E.M. Schols, F.W.G. Leebeek, M.H. Cnossen, F. Atiq, C.B. van Kwawegen, E.P. Mauser-Bunschoten, K.P.M. van Galen   +33 more
doaj   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Commentary [Decompressive craniectomy in patients with cerebral infarction due to malignant vasospasm after aneurysmal subarachnoid hemorrhage]

, 2012
Commentary: article "Decompressive craniectomy in patients with cerebral infarction due to malignant vasospasm after aneurysmal subarachnoid hemorrhage" on page 251 http://www.ncbi.nlm.nih.gov/pmc/articles ...
Archavlis, Eleftherios
core  

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy.

, 2013
BACKGROUND AND PURPOSE: The effect of obesity on the risk of intracerebral hemorrhage (ICH) may depend on the pathophysiology of vessel damage. To further address this issue, we investigated and quantified the correlations between obesity and obesity-
Poli, L, Ciccone, A, Volonghi I, CASO, Valeria, Caso, V, Grassi M, Giossi A, IACOVIELLO, LICIA, Pezzini A, GRASSI, MARIO, Agnelli G, Di Castelnuovo A, PEZZINI, Alessandro, NICHELLI, Paolo Frigio, Zini, A, Lanari, A, Simone AM, LANARI, Alessia, Gamba, M, Guido, D, ZINI, Andrea, Falzone F, Nichelli, Pf, Pentore R, Padovani A, on behalf of the Multicentre Study on Cerebral Hemorrhage in Italy Investigators, Nichelli PF, Iacoviello L, Agnelli, G, Colombi M, Volonghi, I, Ritelli, M, PACIARONI, Maurizio, Silvestrelli, G, PADOVANI, Alessandro, Costa, P, De Gaetano, G, AGNELLI, Giancarlo, Gamba M, Iacoviello, L, Del Zotto, E, Grassi, M, Ritelli M, Poli L, Del Zotto E, Paciaroni M, Multicentre Study on Cerebral Hemorrhage in Italy Investigators, Morotti, A, Simone, Am, Di Castelnuovo, A, Zini A, Padovani A., COLOMBI, Marina, Morotti A, Ciccone A, Pentore, R, Silvestrelli G, Caso V, Costa P, Guido D, Paciaroni, M, SILVESTRELLI, Giorgio, Falzone, F, De Gaetano G, Lanari A, Giossi, A   +65 more
core   +1 more source

Pulmonary Thromboendarterectomy in a Jehovah’s Witness Patient, Case Report

Annals of Cardiac Anaesthesia
This study describes the perioperative management of a 68-year-old Jehovah’s Witness patient with chronic pulmonary thromboembolism, multiple comorbidities, and undergoing pulmonary thromboendarterectomy.
Luz J. Pacheco Leal, Fabio A. Garcia Salamanca, Julián M. Parada, Gianmarco Camelo Pardo, Edgar F. Manrique-Hernandez   +4 more
doaj   +1 more source

Apixaban-Calibrated Anti-FXa Activity in Relation to Outcome Events and Clinical Characteristics in Patients with Atrial Fibrillation: Results from the AVERROES Trial

TH Open, 2017
Background In patients with nonvalvular atrial fibrillation (AF), apixaban is given in doses of 5 or 2.5 mg twice daily, according to clinical characteristics.
Vinai C. Bhagirath, John W. Eikelboom, Jack Hirsh, Michiel Coppens, Jeffrey Ginsberg, Thomas Vanassche, Fei Yuan, Noel Chan, Salim Yusuf, Stuart J. Connolly   +9 more
doaj   +1 more source