Zobrazeno 1 - 10
of 1 623
pro vyhledávání: '"Mitochondrial encephalomyopathy"'
Autor:
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-6 (2024)
Abstract 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 h
Externí odkaz:
https://doaj.org/article/8be34e77e1ac4cecbd08e2d7d860c3ed
Autor:
Makoto Shimada, Tae Ikeda, Ryohei Fukui, Katsuhiro Kida, Ryutaro Matsuura, Takuya Akagawa, Sachiko Goto
Publikováno v:
Egyptian Pediatric Association Gazette, Vol 71, Iss 1, Pp 1-8 (2023)
Abstract Background Arterial spin-labeling (ASL) imaging is currently the most useful method for diagnosing mitochondrial encephalomyopathy, lactic acidosis, and stroke-like attack syndrome (MELAS). However, ASL is often an optional feature of standa
Externí odkaz:
https://doaj.org/article/b34bf78fadfe4ae89515d22abc87ebc4
Publikováno v:
Clinical Case Reports, Vol 12, Iss 1, Pp n/a-n/a (2024)
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.
Externí odkaz:
https://doaj.org/article/c7bc383f05a74d7fb1d6b884a4d45984
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionPrimary angiitis of the central nervous system (PACNS) is an uncommon inflammatory condition that exclusively affects blood vessels within the brain parenchyma, leptomeninges, and spinal cord. Due to its infrequency and the variability in
Externí odkaz:
https://doaj.org/article/153c53171b624b56b5c313c5ba1793d0
Publikováno v:
Journal of Diabetology, Vol 14, Iss 3, Pp 173-176 (2023)
Maternally inherited diabetes and deafness (MIDD) is a rare subtype of diabetes with a prevalence of up to 1% globally but often missed if not suspected. We present a case of MIDD and a thorough review of the literature related to it. The phenotypic
Externí odkaz:
https://doaj.org/article/a0e8144bf36a4277b26145b94a5ef64a
Autor:
Yusuke Yamadori, Yuki Yamagami, Yukihisa Matsumoto, Mari Koizumi, Akiyo Nakamura, Daiskuke Mizuta, Kyoko Yasuda, Gotaro Shirakami
Publikováno v:
JA Clinical Reports, Vol 8, Iss 1, Pp 1-4 (2022)
Abstract Background Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a mitochondrial disease. We report here the safe use of remimazolam in a pediatric MELAS patient. Case presentation A 10-year-old girl (118 cm,
Externí odkaz:
https://doaj.org/article/b5c82f1f356548899f55f2bc06e267ad
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a group of maternally inherited disorders caused by mutations or deletions in mitochondrial genes with mitochondrial encephalomyopathy, lactic acidosis
Externí odkaz:
https://doaj.org/article/fe11ff92b25a4fa89f1ad13d8b0f9698
Akademický článek
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Autor:
Monica Fumagalli, Dario Ronchi, Maria Francesca Bedeschi, Arianna Manini, Gloria Cristofori, Fabio Mosca, Robertino Dilena, Monica Sciacco, Simona Zanotti, Daniela Piga, Gianluigi Ardissino, Fabio Triulzi, Stefania Corti, Giacomo P. Comi, Leonardo Salviati
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100887- (2022)
Mitochondrial DNA (mtDNA) depletion syndromes are disorders characterized by infantile-onset, severe progression, and the drastic loss of mtDNA content in affected tissues. In a patient who showed severe hypotonia, proximal tubulopathy and sensorineu
Externí odkaz:
https://doaj.org/article/96c54ae9f7bc4b18b52893b3aafa3063
Autor:
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
Publikováno v:
Radiology Case Reports, Vol 16, Iss 7, Pp 1865-1869 (2021)
ABSTRACT: 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. We report a case of a 34-year-old fema
Externí odkaz:
https://doaj.org/article/fdb8679b38d7460bae02e1a036cf8cd8