Results 41 to 50 of about 2,165 (170)

Optical coherence tomography findings in chronic progressive external ophthalmoplegia

Chinese Medical Journal, 2019
. Background:. Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial encephalomyopathy caused by multiple mtDNA abnormalities. There is little information about the changes of ocular fundus with CPEO.
Yuan Wu, Lei Kang, Hai-Long Wu, Yue Hou, Zhao-Xia Wang, Yuan-Yuan Ji   +5 more
doaj   +1 more source

Cognitive Profile of Patients With Mitochondrial Chronic Progressive External Ophthalmoplegia

Frontiers in Neurology, 2020
Mitochondrial chronic progressive external ophthalmoplegia (CPEO) is a major manifestation of human mitochondrial encephalomyopathies. Previous studies have shown cognitive deficits in patients with mitochondrial diseases.
Guanyu Zhang, Guanyu Zhang, Yue Hou, Zhaoxia Wang, Zheng Ye   +4 more
doaj   +1 more source

Microrobots powered by concentration polarization electrophoresis (CPEP)

Nature Communications, 2023
Second-order electrokinetic flow around colloidal particles caused by concentration polarization electro-osmosis (CPEO) can result in a phoretic motion of asymmetric particle dimers in a homogeneous AC electrical field, which we refer to as concentration
Florian Katzmeier, Friedrich C. Simmel
doaj   +1 more source

Chronic progressive external ophthalmoplegia: I. A quantitative histochemical study of skeletal muscles

Arquivos de Neuro-Psiquiatria, 1988
This study quantitates the major morphological and cytochemical changes in limb muscle biopsies from 37 patients with the, syndrome of chronic progressive external ophthalmoplegia (CPEO).
Elza Dias-Tosta
doaj   +1 more source

Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad

Case Reports in Genetics, 2022
A curious triad of retinitis pigmentosa, external ophthalmoplegia, and complete heart block was presented by Sayre et al. in 1958. Since then, the disorder named Kearns–Sayre syndrome (KSS) has come to represent patients with mitochondrial DNA deletions ...
Shir Wey Gloria Pang, Hencher Han Chih Lee, Carol Ng Wing kei, Eric Kin Cheong Yau, Joannie Hui   +4 more
doaj   +1 more source

Characterization of Oxygenated Heterocyclic Compounds and in vitro Antioxidant Activity of Pomelo Essential Oil

Drug Design, Development and Therapy, 2021
Guijie Li,1,* Yujiao Cheng,1,* Tenghui Zhang,2 Yingzhuo Li,3 Leng Han,1 Guolu Liang4 1Citrus Research Institute, Southwest University, Chongqing, People’s Republic of China; 2Chengdu Centre Testing International Group Co., Ltd., Chengdu, People ...
Li G, Cheng Y, Zhang T, Li Y, Han L, Liang G   +5 more
doaj  

Mitochondrial dysfunction: Related diseases, influencing factors, and detection

Interdisciplinary Medicine, Volume 3, Issue 5, September 2025.
Mitochondrial dysfunction is implicated in the pathogenesis of numerous diseases, including neurological disorders, cancers, and cardiovascular conditions, through mechanisms such as mitochondrial DNA mutations, dysregulation of mitochondrial network dynamics, and impaired mitophagy.
Zhaojin Li, Shiyu Li, Wanying Chen, Ziyu Zhang, Chun Pan, Peng Lei, Cheng Cheng, Junyou Zhu, Hanxiao Sun, Zhenning Dai   +9 more
wiley   +1 more source

Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions

Frontiers in Genetics, 2022
Mitochondrial DNA (mtDNA) maintenance disorders embrace a broad range of clinical syndromes distinguished by the evidence of mtDNA depletion and/or deletions in affected tissues.
Arianna Manini, Leonardo Caporali, Megi Meneri, Megi Meneri, Simona Zanotti, Daniela Piga, Ignazio Giuseppe Arena, Stefania Corti, Stefania Corti, Antonio Toscano, Giacomo Pietro Comi, Giacomo Pietro Comi, Olimpia Musumeci, Valerio Carelli, Valerio Carelli, Dario Ronchi, Dario Ronchi   +16 more
doaj   +1 more source

Mitochondrial Diseases: Molecular Pathogenesis and Therapeutic Advances

MedComm, Volume 6, Issue 9, September 2025.
Key pathogenic mechanisms—OXPHOS defects, heteroplasmy, impaired mtDNA repair, disrupted dynamics/mitophagy, and inflammatory signaling—drive multiorgan involvement in mitochondrial diseases. Targeted interventions include metabolic drugs (CoQ10, idebenone, EPI‐743), mitochondrial gene editing (DdCBE, mitoBEs, CyDENT/mitoTALEN/mtZFN), and mitochondrial
Jialun Mei, Peng Ding, Chuan Gao, Jian Zhou, Zhiwei Li, Changqing Zhang, Junjie Gao   +6 more
wiley   +1 more source

Endocrine Abnormalities and Growth Pattern in Single Large‐Scale Mitochondrial DNA Deletion Syndromes

Acta Paediatrica, Volume 114, Issue 8, Page 1857-1867, August 2025.
ABSTRACT Aim To assess the prevalence of endocrine disorders and investigate growth patterns in single large‐scale mitochondrial DNA deletion syndromes (SLSMDs). Methods A retrospective study of all children with SLSMD who attended Sheba Medical Center, Israel, from February 2017 to September 2024.
Ayman Daka, Einat Lahav, Omer Bar Yosef, Yoav Bolkier, Yael Levy‐Shraga, Yair Anikster, Elad Jacoby, Noah Gruber   +7 more
wiley   +1 more source