Results 71 to 80 of about 1,539,228 (134)

Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome

BMC Nephrology, 2012
Background MELAS syndrome (MIM ID#540000), an acronym for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with protean manifestations and occasional kidney involvement ...
Piccoli Giorgina, Bonino Laura, Campisi Paola, Vigotti Federica, Ferraresi Martina, Fassio Federica, Brocheriou Isabelle, Porpiglia Francesco, Restagno Gabriella   +8 more
doaj   +1 more source

Adrenal insufficiency in a child with MELAS syndrome

, 2014
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) are established subgroups of mitochondrial encephalomyopathy. m.3243A \u3e G a common point mutation is detected in tRNA in majority of patients with MELAS phenotype ...
Afroze, Bushra, Amjad, Nida, Ibrahim, Shahnaz, Yakob, Yusnita, Humayun, Khadija Nuzhat   +4 more
core  

Stroke in young adult with MELAS syndrome [Genç i·nme nedeni· olarak MELAS sendromu]

, 2004
MELAS syndrome, a rare mitochondrial disorder, is characterized by mitochondrial encephalopathy, lactic acidosis, recurrent stroke-like episodes. Seizures, headaches, nausea and vomiting, exercise intolerance, and ragged-red fibers may be seen. A 20 year-
Özeren A., Özcan F., Zorludemir S., Sarica Y., Koç A.F.   +4 more
core   +1 more source

Severe Diabetic Ketoacidosis as the Initial Presentation of m.3243A>G‐Related Mitochondrial Diabetes in a 19‐Year‐Old Woman

Journal of Diabetes, Volume 18, Issue 9, September 2026.
Rathana Ly, Toshihiro Kobayashi, Kensaku Fukunaga, Takanobu Saheki, Takafumi Yoshimura, Eri Harada, Keisuke Takahashi, Seisuke Sato, Wenyi Jiang, Haotian Zhang, Hitomi Imachi, Koji Murao   +11 more
wiley   +1 more source

Cochlear implantation in MELAS syndrome: a systematic review of audiological outcomes, surgical considerations, and clinical implications

Journal of Rare Diseases
Purpose Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disorder frequently associated with sensorineural hearing loss (SNHL).
David H. Elisha, Ryan Hossain, David H. Cohen, Andrea Monterrubio, Max Zalta, Rahul Mittal, Adrien A. Eshraghi   +6 more
doaj   +1 more source

Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report. [PDF]

Eur Heart J Case Rep, 2023
Lee SH, Lee CJ.
europepmc   +2 more sources

Multisystem clinicopathologic and genetic analysis of MELAS

Orphanet Journal of Rare Diseases
Background and objectives Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that mostly affects the central nervous system and skeletal muscle.
Shuai Xu, Jialiu Jiang, Leilei Chang, Biao Zhang, Xiaolei Zhu, Fengnan Niu   +5 more
doaj   +1 more source

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation

Pathogenic point mutations in the mitochondrial MTND1 gene have previously been described in association with two distinct clinical phenotypes - Leber hereditary optic neuropathy (LHON) and mitochondrial myopathy, encephalopathy, lactic acidosis and ...
Dawidek G, Blakely EL, de Silva R, Taylor RW, Harrower T, Turnbull DM, Schwarzer V, King A   +7 more
core   +4 more sources

Applying Model of Human Occupation in Acute Medical Unit for an Adult with MELAS Syndrome

Journal of Acute Care Occupational Therapy
Background Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) syndrome presents unique challenges in acute medical units due to its complex medical, neurological, and cognitive impairments.
Tiffany Lin, Jaimee Brown
doaj   +1 more source

Vitelliform maculopathy in MELAS syndrome. [PDF]

Am J Ophthalmol Case Rep, 2023
Jahrig C, Ku CA, Marra M, Pennesi ME, Yang P.   +4 more
europepmc   +1 more source