Results 111 to 120 of about 1,356,133 (201)

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

Editorial: Boundaries of life: attitudinal, value and political implications on euthanasia, abortion, reproduction and medical practices

Frontiers in Political Science
Edurne Bartolomé Peral, Hermann Dülmer, Pascal Siegers   +2 more
doaj   +1 more source

The Mpox contextual data specification package: a data curation toolkit to support collaborative pathogen genomic surveillance. [PDF]

Microb Genom
Griffiths EJ, Cameron R, Barclay C, John NS, Dooley D, Gill I, Iseminger M, Anwar MZ, Horsman ME, MacKenzie K, Prystajecky N, Tyson J, Jassem A, Lee T, Azana R, Fung J, Chan M, Cheung B, Tsang F, Fornika D, Caleta JM, Newman T, Yang KC, Russell SL, Zlosnik JEA, Hoang L, Knox N, Tyler AD, Haidl E, Yadav C, Duggan AT, Kearney L, Townend C, Cruz B, Van Domselaar G, Hsiao WWL.   +35 more
europepmc   +1 more source

Scalable radiotherapy data curation infrastructure for deep-learning based autosegmentation of organs-at-risk: A case study in head and neck cancer. [PDF]

Front Oncol, 2022
Tryggestad E, Anand A, Beltran C, Brooks J, Cimmiyotti J, Grimaldi N, Hodge T, Hunzeker A, Lucido JJ, Laack NN, Momoh R, Moseley DJ, Patel SH, Ridgway A, Seetamsetty S, Shiraishi S, Undahl L, Foote RL.   +17 more
europepmc   +1 more source

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

A deep learning-based pipeline for large-scale echocardiography data curation and measurements. [PDF]

Eur Heart J Digit Health
Hu J, Olaisen SH, Pasdeloup D, Van De Vyver G, Østvik A, Holte E, Grenne B, Dalen H, Lovstakken L.   +8 more
europepmc   +1 more source

Development of a data utility framework to support effective health data curation. [PDF]

BMJ Health Care Inform, 2021
Gordon B, Barrett J, Fennessy C, Cake C, Milward A, Irwin C, Jones M, Sebire N.   +7 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

Generative Modeling for Interpretable Anomaly Detection in Medical Imaging: Applications in Failure Detection and Data Curation. [PDF]

Bioengineering (Basel)
Woodland ME, Altaie M, O'Connor CS, Castelo AH, Lebimoyo OC, Gupta AC, Yung JP, Kinahan PE, Fuller CD, Koay EJ, Odisio BC, Patel AB, Brock KK.   +12 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