Results 31 to 40 of about 1,332,430 (297)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Dysphagia is a strong predictor of death and functional dependence at three months post-stroke

Arquivos de Neuro-Psiquiatria, 2022
Background: Few Brazilian studies investigated risk factors for dysphagia and associated complications in a large cohort. Objective: To investigate frequency, predictors, and associated outcomes of dysphagia in patients up to three months post-stroke.
Aline Cristina PACHECO-CASTILHO, Rubia Poliana Crisóstomo MIRANDA, Ana Maria Queirós NORBERTO, Diandra Bosi FAVORETTO, Brunna Pileggi RIMOLI, Luciana Bezerra de Mello ALVES, Karina Tavares WEBER, Taiza Elaine Grespan SANTOS, Julio Cesar MORIGUTI, João Pereira LEITE, Roberto Oliveira DANTAS, Rosemary MARTINO, Octávio Marques PONTES-NETO   +12 more
doaj   +1 more source

Effects of Add‐On Icosapent Ethyl With Standard Treatment on Functional Outcomes and Inflammatory Biomarkers in Acute Ischemic Stroke: A Blinded Randomized Controlled Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Ischemic stroke, a major cause of mortality and long‐term disability, results from the abrupt cessation of cerebral blood flow due to vascular occlusion or rupture. Icosapent Ethyl (EPA‐EE), approved for hypertriglyceridemia, has anti‐inflammatory and antithrombotic properties that may lessen ischemic damage.
Mitra Mahmoudi Meymand, Seyed Hossein Aghamiri, Saeed Mohmammad Soleymani, Shadiyeh Bararpoor Poshkohi, Samaneh Masoudi, Hadi Esmaily   +5 more
wiley   +1 more source

Characteristics of the styloid process and the relationship with deglutition: A scoping review

, 2022
What is the influence of the styloid process on ...
Aline Ferraz, Flavio Magno Gonçalves, Weslania Nascimento, José Stechman-Neto, Cristiano Miranda de Araujo, Julia da Silva Germiniani, Rosane Sampaio Santos, Glória Ravazzi   +7 more
core   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Diffuse Idiopathic Skeletal Hyperostosis: A Rare Cause of Dysphagia

Philippine Journal of Otolaryngology Head and Neck Surgery, 2014
Diffuse idiopathic skeletal hyperostosis (DISH) is a disease characterized by massive, non-inflammatory ossification with intensive formation of osteophytes affecting ligaments, tendons, and fascia of the anterior part of the spinal column, mostly in the
Anuar Khairullah, Hitam Shahrul, Sushil Brito Mutuyanagam   +2 more
doaj   +1 more source

Data‐Driven SuStaIn Model of Disability Progression in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether ordinal Subtype and Stage Inference (SuStaIn) applied to routine ALSFRS‐R item scores can identify reproducible disability progression patterns in amyotrophic lateral sclerosis (ALS) and provide clinically meaningful staging.
Giammarco Milella, Veria Vacchiano, Vittorio Velucci, Stefano Zoccolella, Rocco Liguori, Giovanni Defazio   +5 more
wiley   +1 more source

Relation between acoustic analysis of swallowing and the presence of pharyngeal residue and penetration/aspiration in resistant hypertensive patients with obstructive sleep apnea

Revista CEFAC, 2020
Purpose: to evaluate the relationship between acoustic analysis of swallowing sounds and the presence of pharyngeal residue and penetration/aspiration detected by fiberoptic endoscopic evaluation of swallowing in resistant hypertensive patients with ...
Mariana Pinheiro Brendim, Thalyta Georgia Vieira Borges, Carla Rocha Muniz, Flavia Rodrigues Ferreira, Elizabeth Silaid Muxfeldt   +4 more
doaj   +1 more source

Region‐Specific Profiling of the Gut Microbiome and Metabolite Landscape in Response to Dietary Intervention Using Electronics‐Free Ingestible Smart Sampling Capsules

Advanced Materials Technologies, EarlyView.
Region‐specific profiling of the gut microbiome is achieved non‐invasively using electronics‐free ingestible sampling capsules that activate at defined intestinal sites through stimuli‐responsive coatings. Deployed in a porcine dietary intervention model, the capsules resolve spatially distinct, fiber‐driven shifts in microbial composition and short ...
Devendra Sarnaik, Caitlyn Sullivan, Akshay Krishnakumar, Fangxin Chen, Anna Clapp Organski, Wayne W. Campbell, Jay S. Johnson, Tzu‐Wen L. Cross, Rahim Rahimi   +8 more
wiley   +1 more source