Zobrazeno 1 - 10
of 2 930
pro vyhledávání: '"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:
Michela Di Nottia, Teresa Rizza, Enrico Baruffini, Claudia Nesti, Alessandra Torraco, Daria Diodato, Diego Martinelli, Flavio Dal Canto, Alexandru Ionut Gilea, Martina Zoccola, Barbara Siri, Carlo Dionisi-Vici, Enrico Bertini, Filippo Maria Santorelli, Paola Goffrini, Rosalba Carrozzo
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundMitochondria adjust their shape in response to the different energetic and metabolic requirements of the cell, through extremely dynamic fusion and fission events. Several highly conserved dynamin-like GTPases are involved in these processe
Externí odkaz:
https://doaj.org/article/d224f79529b348b7af84168ca8604f37
Autor:
Shabana Kareem, Reemy Sara Mathai
Publikováno v:
Archives of Medicine and Health Sciences, Vol 12, Iss 2, Pp 269-271 (2024)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a unique autosomal recessive disorder characterized by mitochondrial changes resulting from mutations in the TYMP gene, responsible for encoding thymidine phosphorylase. Despite its gen
Externí odkaz:
https://doaj.org/article/d99b7a3aa6894532a5597d32ae22e1e8
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:
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
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:
S. N. Bardakov, I. S. Limaev, A. M. Emelin, V. Nikitins, E. V. Presnyakov, S. A. Kurbatov, P. G. Tsygankova, V. A. Tsargush, I. A. Chekmareva, E. V. Kolmakova, N. V. Bakulina, R. V. Deev
Publikováno v:
Нервно-мышечные болезни, Vol 12, Iss 4, Pp 56-72 (2022)
Mitochondrial neurogastrointestinal encephalomyopathy is an extremely rare (1–9:1 000 000, Orphanet, 2021) multisystem genetic disease caused by mutations in the TYMP gene encoding the enzyme thymidine phosphorylase.The article presents the data of
Externí odkaz:
https://doaj.org/article/18016ff039554d8791c0c23664fce85c
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