Results 121 to 130 of about 214,966 (272)

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

Extraction of exact symbolic stationary probability formulas for Markov chains with finite space with application to production lines. Part I: description of methodology

Frontiers in Manufacturing Technology
IntroductionMarkov chains are a powerful tool for modeling systems in various scientific domains, including queueing theory. These models are characterized by their ability to maintain complexity at a low level due to a property known as the Markov ...
Konstantinos S. Boulas, Georgios D. Dounias, Chrissoleon T. Papadopoulos   +2 more
doaj   +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

Validation of natural language processing for surgical complication surveillance: detecting 11 postoperative complications from electronic health records

BMJ Surgery, Interventions, & Health Technologies
INTRODUCTIONPostoperative complications (PCs) rates are crucial quality metrics in surgery, as they reflect both patient outcomes, perioperative care effectiveness and healthcare resource strain.
Anders Troelsen, Alexander Bonde, Martin Sillesen, Emilie Even Dencker   +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

Team Boundary Spanning: Strategic Implications for the Implementation and use of Enterprise Social Media

Recent team boundary spanning literature has recommended a shift toward assessing the role of virtual tools – such as social media. Simultaneously the proliferation of Enterprise Social Media (ESM) points to the need to theorize and investigate the supra-
Van Osch, Wietske, Steinfield, Charles W
core   +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

Curvature of the Manifold of Fixed-Rank Positive-Semidefinite Matrices Endowed with the Bures–Wasserstein Metric

, 2019
We consider the manifold of rank-p positive-semidefinite matrices of size n, seen as a quotient of the set of full-rank n-by-p matrices by the orthogonal group in dimension p.
Hendrickx, Julien, Massart, Estelle, 4th International Conference, GSI 2019, Absil, Pierre-Antoine   +3 more
core   +1 more source

Dimethyl Fumarate, But Not Rituximab, Reduces Serum GFAP Levels and PIRMA in Relapsing–Remitting MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Serum neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) levels are believed to reflect mainly acute and chronic disease processes in multiple sclerosis (MS), respectively. In this study, we investigated whether dimethyl fumarate (DMF) and rituximab (RTX) differentially affect these biomarkers.
F. Shawket, J. Lycke, J. Salzer, F. Piehl, K. Fink, N. Lange, J. Mellergård, C. Malmeström, P. Sundström, I. Erngren, A. al‐Grety, E. Freyhult, K. Kultima, J. Burman, A. Svenningsson   +14 more
wiley   +1 more source

The $2$-$3$-Set Packing problem and a $\frac{4}{3}$-approximation for the Maximum Leaf Spanning Arborescence problem in rooted dags

, 2023
The weighted $3$-Set Packing problem is defined as follows: As input, we are given a collection $\mathcal{S}$ of sets, each of cardinality at most $3$ and equipped with a positive weight.
Neuwohner, Meike
core