Zobrazeno 1 - 10
of 1 422
pro vyhledávání: '"Stroke-like episodes"'
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-7 (2024)
Abstract 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.
Externí odkaz:
https://doaj.org/article/265d09f6f4e74b8996a9e257ccd61727
Publikováno v:
Clinical Case Reports, Vol 12, Iss 3, Pp n/a-n/a (2024)
Key Clinical Message MELAS is a disorder with clinical variability that also responsible for a significant portion of unexplained hereditary or childhood‐onset hearing loss. Although patients typically present in childhood, the first stroke‐like
Externí odkaz:
https://doaj.org/article/1c0328b5880149318d4a9efe079d4fee
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
Autor:
Simone Scarcella, Laura Dell’Arti, Delia Gagliardi, Francesca Magri, Alessandra Govoni, Daniele Velardo, Claudia Mainetti, Valeria Minorini, Dario Ronchi, Daniela Piga, Giacomo Pietro Comi, Stefania Corti, Megi Meneri
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-7 (2023)
Abstract Background Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a systemic disorder in which multi-organ dysfunction may occur from mitochondrial metabolism failure. Maternally inherited mutations in
Externí odkaz:
https://doaj.org/article/840320b90ffd4463aa15edbbfdbf0c54
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:
Vykuntaraju K Gowda, Arun Y Bylappa, Uddhav Kinhal, Varunvenkat M Srinivasan, Dhananjaya K Vamyanmane
Publikováno v:
Annals of Indian Academy of Neurology, Vol 26, Iss 6, Pp 977-979 (2023)
Mitochondrial disorders are a group of metabolic disorders with variable presentation and usually affect organs with high energy requirements like the brain, eye, and heart. Seventeen-month-old girl child presented with right hemiparesis and regressi
Externí odkaz:
https://doaj.org/article/9d9761a071d842908ad9eead5e250f68
Autor:
Helin Zheng, Xuemei Zhang, Lu Tian, Bo Liu, Xiaoya He, Longlun Wang, Shuang Ding, Yi Guo, Jinhua Cai
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2023)
ObjectiveMitochondrial encephalomyopathy with lactic acidosis and stroke−like episodes (MELAS) is one of the most common inherited mitochondrial disorders. Due to the high clinical and genetic heterogeneity of MELAS, it is still a major challenge f
Externí odkaz:
https://doaj.org/article/36e1030434c34914b444451b352de62e
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is one of the most common maternally inherited mitochondrial diseases which rarely affects elderly people.Case presentationWe reported the case of a 61-ye
Externí odkaz:
https://doaj.org/article/3d8e54e12c7e4c598794e2f9bcf26961
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