Results 171 to 180 of about 4,664,382 (261)

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

Determinants of Non-infectious Scleritis Complications and Their Impact on Visual Outcome: Results from the International AIDA Network Scleritis Registry. [PDF]

Ophthalmol Ther
Sota J, Hinojosa-Azaola A, de-la-Torre A, Giardini HAM, Guerriero S, Kawakami-Campos PA, Martín-Nares E, Guaracha-Basañez GA, Ragab G, Chimenti MS, Lopalco G, Hissaria P, Cattalini M, Ruscitti P, Tharwat S, Ruiz-Irastorza G, García-Madero JJ, Tierradentro-Alape R, Hegazy MT, Afifi K, Emmi G, Parronchi P, Paroli MP, Hernández-Rodríguez J, Sainz-de-la-Maza M, Caggiano V, Sbalchiero J, Bugatti S, Gaggiano C, Breda L, Dammacco R, Monosi B, Capodiferro M, Beecher M, Olivieri AN, Batu ED, Ozen S, Frediani B, Thabet M, Balistreri A, Gupta V, Fonollosa A, Vitale A, Cantarini L, Fabiani C, Study Group of Systemic Autoinflammatory Disease of SIR (Italian Society of Rheumatology).   +45 more
europepmc   +1 more source

Understanding Further the Phenotypic Spectrum of Central Nervous System Inflammatory Demyelinating Disorders Using Unsupervised Clustering

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec, Elif Everest, Melih Tutuncu, Ugur Bilge, Sabahattin Saip, Ugur Uygunoglu, Aksel Siva   +6 more
wiley   +1 more source

Visual outcome, safety, and complications of iris suture fixation versus iris claw fixation for aphakic correction: a prospective randomized study. [PDF]

BMC Ophthalmol
Saad EME, Mohammed HEM, Tharwat E, Sakr AM, Abdelhafeez SME, Yusef NM, Rashed MAA, Tawfik AMR, Alsadawy MAH, Abdou ARM, Okasha MG, Alabshihy MSI, Hussein ASA, Ghazala AMA, Abd Elkader GBH, Elhaw MAGM, Eldeen MAEMS, Ali MAA, Elsayed SSE, Sayed TGE.   +19 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

Morphological and Clinical Characterization of Foveal Bulge Sign Three Years After Retinal Detachment Repair: A Longitudinal Prospective Evaluation

Clinical Ophthalmology
Nicole Arend,1,* Efstathios Vounotrypidis,2,* Ricarda G Schumann,3 Anselm Kampik,3 Felice Lob,4 Siegfried Priglinger,5 Armin Wolf2 1Department of Ophthalmology, Eye Center Olching, Olching, Germany; 2Department of Ophthalmology, Ulm University ...
Arend N, Vounotrypidis E, Schumann RG, Kampik A, Lob F, Priglinger S, Wolf A   +6 more
doaj  

Leveraging large scale deep learning models for diagnosis and visual outcome prediction in retinitis pigmentosa. [PDF]

NPJ Digit Med
Nagai T, Homma K, Kawamata Y, Yoshihara M, Kawakami E, Baba T.   +5 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

Visual outcome in hypermetropic eye post-refractive surgery: retrospective cohort study. [PDF]

Ann Med Surg (Lond)
Bamahfouz A, Alharbi E, Alqurashi A, Qasim O, Alsairafi J, Alsulami R, Aldaadi B, Alsaud R, Basheikh A.   +8 more
europepmc   +1 more source

White Matter Hyperintensity Burden and Short‐Interval Change Associated With Sleep Apnoea in the UK Biobank

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng, Diego Z. Carvalho, Shahid Karim, Anwar Chahal, Virend K. Somers   +4 more
wiley   +1 more source