Results 21 to 30 of about 1,539,228 (134)

MELAS and Kearns–Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions

eNeurologicalSci, 2016
This paper reported an unusual manifestation of a 19-year-old Chinese male patient presented with a complex phenotype of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome and Kearns–Sayre syndrome (KSS).
Nian Yu, Yan-fang Zhang, Kang Zhang, Yuan Xie, Xing-jian Lin, Qing Di   +5 more
doaj   +2 more sources

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

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   +2 more sources

Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report [PDF]

BMC Neurology, 2020
Background A unique patient with MELAS syndrome, who initially masqueraded as having acute encephalitis and was eventually diagnosed with MELAS syndrome harboring a mtDNA 14453G → A mutation, is described. Case presentation A 74-year-old Japanese man was
Yuki Yokota, Makoto Hara, Takayoshi Akimoto, Tomotaka Mizoguchi, Yu-ichi Goto, Ichizo Nishino, Satoshi Kamei, Hideto Nakajima   +7 more
doaj   +2 more sources

Remimazolam anesthesia for transcatheter mitral valve repair in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome: a case report [PDF]

JA Clinical Reports, 2022
Background Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is characterized by cardiac depression, respiratory failure, myopathy, and anesthesia for affected patients is challenging.
Atsuhiro Kitaura, Reiko Kosumi, Tatsushige Iwamoto, Shinichi Nakao   +3 more
doaj   +2 more sources

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis: A case report [PDF]

Radiology Case Reports, 2022
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome presents with the features of herpes simplex encephalitis (HSE), which is rare and has been described in only a few case reports.
Wen-Gao Zeng, MD, Wan-Min Liao, PhD, Jue Hu, PhD, Su-Fen Chen, MD, Zhen Wang, PhD   +4 more
doaj   +2 more sources

Pathology of mitochondria in MELAS syndrome: an ultrastructural study

Polish Journal of Pathology, 2017
Ultrastructural changes in skeletal muscle biopsy in a 24-year-old female patient with clinically suspected mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) syndrome are presented.
Paulina Felczak, Eliza Lewandowska, Iwona Stępniak, Monika Ołdak, Agnieszka Pollak, Urszula Lechowicz, Elżbieta Pasennik, Tomasz Stępień, Teresa Wierzba-Bobrowicz   +8 more
doaj   +2 more sources

Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant [PDF]

Frontiers in Pediatrics, 2022
Backgroundβ-Ureidopropionase deficiency is a rare autosomal recessive disease affecting the last step of pyrimidine degradation. Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder ...
Jianbo Shu, Jianbo Shu, Jianbo Shu, Xiufang Zhi, Xiufang Zhi, Jing Chen, Jing Chen, Meifang Lei, Meifang Lei, Jie Zheng, Jie Zheng, Wenchao Sheng, Wenchao Sheng, Chunhua Zhang, Dong Li, Dong Li, Chunquan Cai, Chunquan Cai, Chunquan Cai, Chunquan Cai   +19 more
doaj   +2 more sources

MELAS syndrome as a unusual cause of hypoparathyroidism: clinical case

Остеопороз и остеопатии, 2019
MELAS syndrome belongs to the group of progressive mitochondrial diseases associated with point mutations in mitochondrial DNA, and includes mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes, which can combined with endocrine ...
Diliara Sh. Umiarova, Tatiana A. Grebennikova, Tatiana S. Zenkova, Ekaterina L. Sorkina, Zhanna E. Belaya   +4 more
doaj   +2 more sources

Case report: Late-onset MELAS syndrome with mtDNA 5783G>A mutation diagnosed by urinary sediment genetic testing [PDF]

Frontiers in Genetics
BackgroundPatients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) usually present with multisystemic dysfunction with a wide range of clinical manifestations.
Hao Cai, Hao Cai, Hao Cai, Hao Cai, Li-Min Li, Miao Zhang, Miao Zhang, Miao Zhang, Miao Zhang, Yuying Zhou, Yuying Zhou, Yuying Zhou, Yuying Zhou, Pan Li, Pan Li, Pan Li, Pan Li   +16 more
doaj   +2 more sources

Atypical Strokes in a Young African American Male: A Case of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome [PDF]

Stroke Research and Treatment, 2011
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare but important cause of stroke-like symptoms which can often be missed Thambisetty and Newman 2004.
Jully M. Sanchez, Judy Ann Tan, Dimitrios Farmakiotis, Vikas Aggarwal   +3 more
doaj   +2 more sources