Results 71 to 80 of about 1,725,889 (298)

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

Impact of chorioamnionitis and other intrauterine pathological conditions on human foetal cytoskeleton structural protein development: An immunohistochemical study

Clinical and Experimental Obstetrics & Gynecology, 2020
The present study aimed to elucidate the mechanisms by which chorioamnionitis affects the intrauterine development of the human eye at the molecular level, utilising immunohistochemistry.
L. Lamprou, G. Panagopoulou, N. Papadopoulos, C. Tsigalou, O. Pagonopoulou, M. Lambropoulou   +5 more
doaj   +1 more source

Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan, Marco Pitteri, Michael Foster, Sara Collorone, Sara Salama, Elisa Colato, Ferran Prados, Baris Kanber, Marios Yiannakas, Claudia A. M. Gandini Wheeler‐Kingshott, Indran Davagnanam, Frederik Barkhof, Declan Chard, Olga Ciccarelli, Ahmed Toosy   +14 more
wiley   +1 more source

Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer, Marie Obrecht, Charlotte de Maeseneire, Charlotte Damien, Chantal Depondt, Lorenzo Ferlini, Estelle Rikir, Filippo Annoni, Fabio Silvio Taccone, Nicolas Mavroudakis, Benjamin Legros, Nicolas Gaspard   +11 more
wiley   +1 more source

Meibomian Gland Dropout in Patients with Dry Eye Disease in China

, 2014
Purpose: To examine the morphological changes in the meibomian glands of eyes of patients with dry eye disease using the non-contact infrared meibography system and to assess their relationship with meibomian dropout, signs, and tear-film function ...
Gao, Ziqing, Qu, Hongqiang, Feng, Kang, Hong, Jing, Feng, Yun   +4 more
core   +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

අගතියට පත් වූ අය හට වරද පැටවීමක්?

, 2023
This entry includes a write-up and infographic. (both in Sinhala) - published on Ethics Eye platform 8 August 2023On the 6 August 2023 article published in Sunday Aruna used the term "රූමත්" (Rumath) to highlight physical appearance where it was ...
Ethics Eye
core   +1 more source

ලිංගික අපරාධයකට මුහුණ පෑ අයෙකු අපවිත්‍ර වූ බවට හඟවන "දූෂණය", "කෙළෙසීම" වැනි යෙදුම් උචිත වේද?

, 2023
This entry includes a write-up and infographic. (both in Sinhala)On the 25 of August 2023, Ethics Eye published this infographic emphasising the use of ethical term 'ලිංගික අපරාධය' instead of using terms like 'දූෂණය' and 'කෙළෙසීම' which give the sense ...
Ethics Eye
core   +1 more source

Evaluation of ExPress glaucoma filtration device in Indian patients with advanced glaucoma

Indian Journal of Ophthalmology, 2015
ExPress glaucoma filtration device (GFD) has recently become available in India as a surgical option for glaucoma patients. We retrospectively evaluated the outcome of ExPress GFD in 12 eyes with advanced glaucoma with intraocular pressures (IOPs) not ...
Dewang Angmo, Reetika Sharma, Shreyas Temkar, Tanuj Dada   +3 more
doaj   +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