Results 201 to 210 of about 14,528,728 (295)

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Severe pneumococcal pneumonia with human rhinovirus/enterovirus coinfection leading to sepsis in a welder: a case report. [PDF]

Front Med (Lausanne)
Peneva P, Kossian G, Nedelcev L, Coveney R, Yordanov P, Dimitrova V, Georgiev P, Mircheva N, Mustafa F, Antonov A, Tzenova M, Botseva A, Ilieva N, Tasheva V, Doga Y, Petkova D, Dobreva T.   +16 more
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Eosinophilic cystitis refractory to multiple treatments with good response to benralizumab: case report. [PDF]

Front Allergy
Ruiz de Galarreta Beristain M, Audicana Berasategui MT, Bernedo Belar N, Mena Ruiz C, Moreno Nieto V, Uriel Villate O.   +5 more
europepmc   +1 more source

Comparing the Effect of Semi‐Immersive Virtual Reality, Computerized Cognitive Training, and Traditional Rehabilitation on Cognitive Function in Multiple Sclerosis: A Randomized Clinical Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio, Desiree Latella, Lilla Bonanno, Paulo Cezar Rocha dos Santos, Marcos Maldonado‐Díaz, Meir Plotnik, Rosaria De Luca, Angelo Quartarone, Rocco Salvatore Calabrò   +8 more
wiley   +1 more source

Validity and Reliability of the Turkish Version of the Idiopathic Toe Walking Outcome (iTWO) Proforma. [PDF]

J Foot Ankle Res
Giray E, Karadag MI, Turkyilmaz SG, Celik KY, Akpinar P, Illeez OG, Unlu Ozkan F, Aktas I, Karadag-Saygi E, Williams CM.   +9 more
europepmc   +1 more source

Acute Kidney Injury After Mechanical Thrombectomy for Stroke in Patients With Pre‐Existing Renal Impairment

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Acute kidney injury (AKI) is a common but often underrecognized complication in ischemic stroke patients undergoing mechanical thrombectomy, particularly among those with pre‐existing renal impairment. This study evaluated the incidence, risk factors, and clinical impact of AKI in this high‐risk population.
Michał Borończyk, Marcel Pilarek, Emilia Jaworska, Natalia Kardas, Oliwia Barnaś, Julia Woźniak, Iga Machała, Julia Węgrzynek‐Gallina, Joanna Siuda, Anna Hawrot‐Kawecka, Anetta Lasek‐Bal   +10 more
wiley   +1 more source

Hybrid CFD-DSMC Simulation of Ion Transport in Photoionization Mass Spectrometry: From Atmospheric Pressure to High Vacuum. [PDF]

Rapid Commun Mass Spectrom
Wen Z, Gao S, Huang J, Wang G, Tang Y, Liu C, Xu M, Gao H, Wang X, Yang J, Pan Y.   +10 more
europepmc   +1 more source

Ofatumumab in Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease: A Comparison With Rituximab

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the efficacy and safety of ofatumumab in patients with myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), and compare it with rituximab. Methods We conducted a single–center, observational study including 22 MOGAD patients treated with ofatumumab and 21 treated with rituximab.
Yuxin Fan, Lei Zhou, Jingzi ZhangBao, Hongmei Tan, Zhouzhou Wang, Chao Quan   +5 more
wiley   +1 more source

A perspective on improving the teaching quality of aerospace cardiovascular medicine courses. [PDF]

Front Med (Lausanne)
Cong L, Huang M, Zhang T, Wang W, Dang W.   +4 more
europepmc   +1 more source