Results 11 to 20 of about 6,956 (184)

Subacute‐onset cataract in a 29‐year‐old man with mitochondrial encephalomyopathy: A case report [PDF]

Clinical Case Reports
Key Clinical Message This case report aims to emphasize that subacute occurrence of nuclear cataract might be one of the underestimated manifestations of mitochondrial encephalomyopathy, thus periodical ophthalmologic examinations are recommended.
Lu Chen, Yueyang Zhong, Jingjie Xu, Qiuli Fu, Ke Yao   +4 more
doaj   +2 more sources

General anesthesia with remimazolam in a patient with mitochondrial encephalomyopathy: a case report [PDF]

JA Clinical Reports, 2021
Background Systemic anesthetic management of patients with mitochondrial disease requires careful preoperative preparation to administer adequate anesthesia and address potential disease-related complications. The appropriate general anesthetic agents to
Yuji Suzuki, Matsuyuki Doi, Yoshiki Nakajima   +2 more
doaj   +2 more sources

TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy [PDF]

Orphanet Journal of Rare Diseases
Biallelic pathogenic variants in TARS2 lead to combined oxidative phosphorylation deficiency, subtype 21 (COXPD21, MIM #615918), which is a rare mitochondrial encephalomyopathy (ME) characterized by early-onset severe axial hypotonia, limb hypertonia ...
Shujie Zhang, Haisong Qin, Qingming Wang, Yingfei Wang, Yanhui Liu, Qi Yang, Jingsi Luo, Zailong Qin, Xiang Ji, Lijuan Kan, Guoxing Geng, Jing Huang, Shengkai Wei, Qiuli Chen, Yiping Shen, Haiming Yuan, Baoling Lai   +16 more
doaj   +2 more sources

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with coexisting nemaline myopathy: a case report [PDF]

Journal of Medical Case Reports
Background Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes and nemaline myopathy are two rare genetic conditions. We report the first case reported in world literature with coexistence of both these rare disorders.
Kawmadi Gunawardena, Somasundaram Praveenan, Vajira H. W. Dissanayake, Pyara Ratnayake   +3 more
doaj   +2 more sources

Gastrointestinal complications of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome managed by parenteral nutrition [PDF]

European Journal of Case Reports in Internal Medicine
MELAS – an acronym for mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes – is a multiorgan disease caused by a mutation in mitochondrial DNA (mtDNA).
Simona Horná, Martin Jozef Péč, Juraj Krivuš, Renáta Michalová, Štefan Sivák, Peter Galajda, Marián Mokáň   +6 more
doaj   +2 more sources

Late-onset mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes with chronic intestinal pseudo-obstruction: a case-based review [PDF]

Front Mol Biosci
Lin Zhang, Junjian Lin, Fengying Li, Yujie Jia, Junhua Li, Xiaopeng Wang   +5 more
openalex   +2 more sources

Ubiquitin Proteasome System BTB-Adaptor Protein Insomniac Modifies Seizure Severity and Response to the Ketogenic Diet in a Drosophila Model of Mitochondrial Encephalomyopathy [PDF]

Genes (Basel)
Keri J. Fogle, Brynn Urban, Dana M. Mumford, Michael J. Palladino   +3 more
openalex   +2 more sources

A case of delayed acute intestinal pseudo-obstruction after MELAS crisis in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes [PDF]

Front Med (Lausanne)
Qinggen Liu, Lina Yang, Pengcheng Liu, X Y Wang, Kaiyue Peng, Qi Liu, Kun Zhang   +6 more
openalex   +2 more sources

Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling [PDF]

Brain Behav
Fanjing Zhou, Chen Jiang, Tingzheng Zhang, Fengnan Niu, Jinglong Hu, Yun Xu, Meijuan Zhang   +6 more
openalex   +2 more sources

Dynamic functional connectivity changes in the triple networks in patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes [PDF]

Quant Imaging Med Surg
Qingyun Yu, Rong Wang, Chong Sun, Bin Hu, Xueling Liu, Liqin Yang, Jie Lin, Yuxin Li, Daoying Geng   +8 more
openalex   +2 more sources