Results 31 to 40 of about 5,347 (184)

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

Invasive aspergillosis in a patient with MELAS syndrome [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2000
Invasive infection with the opportunistic fungus Aspergillus fumigatus predominantly affects people with impaired cell mediated immunity. The case of a 31 year old woman with no identified cause for immunosuppression who presented with severe refractory aspergillosis of the paranasal sinuses is reported.
McKee, D. H., Cooper, P. N., Denning, D. W.   +2 more
openaire   +4 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 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

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

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome [PDF]

BMC Neurology, 2013
Background POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-
Cheldi Antonella, Ronchi Dario, Bordoni Andreina, Bordo Bianca, Lanfranconi Silvia, Bellotti Maria Grazia, Corti Stefania, Lucchini Valeria, Sciacco Monica, Moggio Maurizio, Baron Pierluigi, Comi Giacomo Pietro, Colombo Antonio, Bersano Anna   +13 more
doaj   +2 more sources