Results 41 to 50 of about 30,797 (247)

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, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with progressive sensorineural hearing loss: A case report

Radiology Case Reports, 2021
: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most common maternally inherited mitochondrial disorders, with no specific treatment available.
T.M. Trang, MD, P.C. Chien, MD, B.T. Dung, MD, N.T.H. Thu, MD, N.T.T. Truc, MD, V.N.C. Khang, MD   +5 more
doaj   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Review of Gastrointestinal Capsule Robots: Materials, Actuation, Diagnostics, and Therapeutics

Advanced Science, EarlyView.
This review examines gastrointestinal capsule robots through a systems engineering lens, covering shell materials, actuation and localization strategies, diagnostic modalities, therapeutic interventions, and commercialization status. By mapping the complete technological chain from fabrication to clinical deployment, this work identifies critical gaps ...
Zengsheng Li, Zhongguo Ren, Yiliang Lin, Xianfeng Xia, Tianlong Li, Kai Fung Chan, Philip Wai Yan Chiu, Wei Peng Yong, Mengmeng Sun   +8 more
wiley   +1 more source

14‐3‐3γ Protects Against Postoperative Cognitive Dysfunction by Regulating Tau Thr205 Phosphorylation and Synaptic Integrity

Advanced Science, EarlyView.
Integrative multi‐cohort analyses identify 14‐3‐3γ as a biomarker and regulator of cognitive vulnerability. Experimental studies show that 14‐3‐3γ loss is associated with Tau Thr205 phosphorylation, synaptic dysfunction, and cognitive impairment, while genetic overexpression or pharmacological stabilization of 14‐3‐3γ confers protective effects in ...
Shouqiang Zhu, Xue Han, Heng Zhang, Chang Ye, Tianjiao Xia, Xiaoping Gu   +5 more
wiley   +1 more source

Quantitative measurement of cerebral oxygen extraction fraction using MRI in patients with MELAS. [PDF]

PLoS ONE, 2013
OBJECTIVE: To quantify the cerebral OEF at different phases of stroke-like episodes in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) by using MRI.
Lei Yu, Sheng Xie, Jiangxi Xiao, Zhaoxia Wang, Xiaodong Zhang   +4 more
doaj   +1 more source

Increased Disarray of Extracellular Matrix Collagen‐I Fiber Network and Compromised Biomechanics in Aortae From Marfan‐Syndrome Mice Assessed Through Combined Opto‐Biomechatronics

Advanced Science, EarlyView.
Combined structure‐function assessment in aortic rings from Marfan mice using MechaMorph Opto‐Biomechatronics technology relates increased elasticity (stiffness) and dynamic viscosity and less ordered extracellular matrix 3D‐structure (collagen) as potential causes for impaired Windkessel function and compromised haemodynamics in Marfan's syndrome ...
Dominik Schneidereit, Anika Nagel, Vanessa I. T. Zwaans, Laureen Schurr, Jonas Ahr, Michael Haug, Anna Piluso, Alexandra Sporkova, Matthias Karck, Andreas H. Wagner, Oliver Friedrich   +10 more
wiley   +1 more source

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with high-frequency oscillations on scalp EEG: A case report

Epilepsy & Behavior Reports
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare mitochondrial disease with a prevalence of 16–18 per 100,000 persons. Most patients with MELAS develop epilepsy and require effective control of recurrent
Keisuke Maeda, Himari Tsuboi, Nami Hosoda, Junichi Fukumoto, Shiho Fujita, Naohiro Ichino, Keisuke Osakabe, Keiko Sugimoto, Gen Furukawa, Naoko Ishihara   +9 more
doaj   +1 more source

Consensus-based statements for the management of mitochondrial stroke-like episodes [version 1; peer review: 2 approved]

Wellcome Open Research, 2019
Background: Focal-onset seizures and encephalopathy are prominent features of a stroke-like episode, which is a severe neurological manifestation associated with subtypes of mitochondrial disease.
Yi Shiau Ng, Laurence A. Bindoff, Gráinne S. Gorman, Rita Horvath, Thomas Klopstock, Michelangelo Mancuso, Mika H. Martikainen, Robert Mcfarland, Victoria Nesbitt, Robert D. S. Pitceathly, Andrew M. Schaefer, Doug M. Turnbull   +11 more
doaj   +1 more source

Characteristics Associated With Persistent Long COVID Symptoms in Healthcare Personnel Infected With SARS‐CoV‐2 Between August 2022 and May 2024: A Multicenter Cohort Analysis of US Healthcare Personnel

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Long COVID affects a significant proportion of COVID‐19 survivors. This study examined persistent Long COVID symptoms among healthcare personnel (HCP) and evaluated associations with vaccination, prior SARS‐CoV‐2 infection, underlying health conditions, and demographics.
Eric Kontowicz, Amanda K. Irish, Lilly C. Lee, Howard A. Smithline, Ian D. Plumb, Melissa Briggs‐Hagen, Alexandra F. Rollins, Karisa K. Harland, Anusha Krishnadasan, Karin F. Hoth, Eliezer Santos‐León, David A. Talan, Nicholas M. Mohr, Project PREVENT Network   +13 more
wiley   +1 more source