Results 191 to 200 of about 6,529,585 (334)

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

Evidence-based team intervention to reduce diagnostic errors in anaemia and CKD diagnoses in primary care: protocol for a stepped-wedge cluster RCT. [PDF]

BMJ Open
Novikov Z, Mehra N, Li X, Wells R, Ottosen M, Hwang K, Avritscher EBC, Green C, Lee KH, Oguin X, Janecka M, Espinoza M, Adebowale B, Araya A, Wahed A, Thomas E.   +15 more
europepmc   +1 more source

Diagnostic Errors in Japanese Community Hospitals and Related Factors: A Retrospective Cohort Study. [PDF]

Healthcare (Basel), 2023
Fujimori T, Ohta R, Sano C.
europepmc   +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

Diagnostic Errors in the Acutely Dizzy Patient-Lessons Learned. [PDF]

Brain Sci
Tarnutzer AA, Koohi N, Lee SU, Kaski D.
europepmc   +1 more source

Prevalence and Causes of Diagnostic Errors in Hospitalized Patients Under Investigation for COVID-19-Response from Author. [PDF]

J Gen Intern Med, 2023
Auerbach A, Hubbard C, Schnipper J.
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

An audit of autopsy-confirmed diagnostic errors in perinatal deaths: What are the most common major missed diagnoses. [PDF]

Heliyon, 2023
Xu Y, Cheng C, Zheng F, Saiyin H, Zhang P, Zeng W, Liu X, Liu G.   +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

Measuring the association between diagnostic errors and neighborhood disadvantage. [PDF]

J Hosp Med
Kaiksow FA, Brendel M, Hubbard CC, Lee T, Chia D, Brooks K, Ruhnke GW, Raffel KE, Goyal A, Kantor MA, Helminski AS, Alday A, Astik GJ, Barish P, Schnipper JL, Auerbach AD.   +15 more
europepmc   +1 more source