Results 161 to 170 of about 2,213,662 (293)

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

Risk Governance in Clinical Education for Healthcare Students: A Scoping Review. [PDF]

Clin Teach
Tong RR, Suh JM, Cheshire L, Naccarella L.   +3 more
europepmc   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Bayesian Mendelian randomization methods for index trait bias correction in subsequent trait genome-wide association studies. [PDF]

HGG Adv
Adhikari N, Lunetta KL, Gagnon DR, Peloso GM.   +3 more
europepmc   +1 more source

Dementia Incidence in Individuals With Parkinson's Disease in the Framingham Heart Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Limited information exists on incident dementia in individuals with Parkinson's disease (PD) in US community‐based samples. We examined cognitive statuses and PD diagnoses of 183 individuals in the Framingham Heart Study (FHS) to establish incident dementia, mortality rates, associations with sex, age at PD onset, and education level.
Joshi Dookhy, Michael Cummings, Eden Price, Yulin Liu, Santiago Gutierrez‐Gomez, Sarah O'Shea, Samuel Frank, Rhoda Au, Ashita S. Gurnani, Ting Fang Alvin Ang, Jesse Mez, Ludy C. Shih   +11 more
wiley   +1 more source

Associations of Combined Genetic and Lifestyle Risks With Incident Type 2 Diabetes in the UK Biobank. [PDF]

Diabetes
Zhao C, Hatzikotoulas K, Balasubramanian R, Bertone-Johnson E, Cai N, Huang L, Huerta-Chagoya A, Janiczek M, Ma C, Mandla R, Paluch A, Rayner NW, Southam L, Sturgeon SR, Suzuki K, Taylor HJ, Vankim N, Yin X, Lee CH, Collins F, Spracklen CN.   +20 more
europepmc   +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

Dietary Sodium Intake and Risk of Incident Heart Failure in the Southern Community Cohort Study. [PDF]

JACC Adv
Dupuis L, Xu M, White A, Dixon DD, Ferguson JF, Shu XO, Yu D, Lipworth L, Gupta DK.   +8 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

Plasma Metabolite Associations for Risk and Laboratory Measures of Type 2 Diabetes in a Large-Scale Finnish Prospective Cohort. [PDF]

Diabetes Care
Liu L, Peng R, Chu X, Xia Z, Fu Q, Fernandes Silva L, Stringham HM, Hu X, Liang Y, Ji X, Li J, Yang T, Morrison J, Wen X, Fauman E, Burant CF, Scott LJ, Boehnke M, Laakso M, Yin X.   +19 more
europepmc   +1 more source