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 +21 more
wiley +1 more source
Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova +9 more
wiley +1 more source
Spatial effects of green logistics development on regional sustainable development in Guangdong Province, China. [PDF]
Sci RepChen X, Chen H, Luo J, Zeng H, Liu L.
europepmc +1 more source
Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif +17 more
wiley +1 more source
Ontology- and Data-Driven Circularity Assessment of Waste-Derived Rigid PVC-u: A Micro-Macro Decision Framework for Sustainable Recycling and Smart Manufacturing. [PDF]
Polymers (Basel)Chidara AC, Ji S, Awak AA.
europepmc +1 more source
Diabetes‐Associated Cognitive Impairment: Pathophysiology and Emerging Therapies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Diabetes‐associated cognitive impairment (DACI) is a common yet underrecognized condition, manifesting along a spectrum from mild cognitive impairment to dementia. DACI encompasses patients who develop vascular dementia (VaD) or Alzheimer's disease (AD) with diabetes as a risk factor; however, in certain patients, particularly those lacking ...
Osman Corbali +4 more
wiley +1 more source
Barriers and Drivers to Energy Efficiency - A new Taxonomical Approach [PDF]
This paper develops a new systematic classification and explanation of barriers and drivers to energy efficiency. Using an actor oriented approach, the paper tries to identify (i) the drivers and barriers that affect the success or failure of energy ...
B. Sudhakara Reddy, Gaudenz Assenza
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Comparative Energy and Thermal Performance of Biomimetic Louver Retrofits in Hot-Arid Climate Residential Buildings. [PDF]
Biomimetics (Basel)Seif SH, Fikry M, Farghaly T.
europepmc +1 more source
Arthritis Care &Research, EarlyView.Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos +2 more
wiley +1 more source
Observer‐Based Adaptive Event‐Triggered Tracking Control for Fuzzy TS Systems With Premise Mismatch
International Journal of Adaptive Control and Signal Processing, EarlyView.This paper presents an adaptive logistic event‐triggered observer‐based tracking controller for Takagi‐Sugeno fuzzy systems under constrained inputs and network delays. Leveraging a hybrid LMI and Secretary Bird Optimization approach, this strategy significantly minimizes communication overhead and computational burden while ensuring optimal reference ...
Oussama Djadane +3 more
wiley +1 more source