Results 1 to 10 of about 2,461,819 (231)

Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature [PDF]

Molecular Genetics & Genomic Medicine, 2022
Background Mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes (MELAS) syndrome is one of the most well‐known mitochondrial diseases, with most cases attributed to m.3243A>G.
Lydia M. Seed, Andrew Dean, Deepa Krishnakumar, Poe Phyu, Rita Horvath, Pooja Devi Harijan   +5 more
doaj   +5 more sources

Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure [PDF]

Biomedicines, 2022
(1) Background: The development of mitochondrial medicine has been severely impeded by a lack of effective therapies. (2) Methods: To better understand Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-like episodes (MELAS) syndrome, neuronal ...
Sophie Belal, David Goudenège, Cinzia Bocca, Florent Dumont, Juan Manuel Chao De La Barca, Valérie Desquiret-Dumas, Naïg Gueguen, Guillaume Geffroy, Rayane Benyahia, Selma Kane, Salim Khiati, Céline Bris, Tamas Aranyi, Daniel Stockholm, Aurore Inisan, Aurélie Renaud, Magalie Barth, Gilles Simard, Pascal Reynier, Franck Letournel, Guy Lenaers, Dominique Bonneau, Arnaud Chevrollier, Vincent Procaccio   +23 more
doaj   +5 more sources

Vitelliform maculopathy in MELAS syndrome. [PDF]

Am J Ophthalmol Case Rep, 2023
We present a unique case of foveomacular vitelliform lesions in a patient with metabolic encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).After performing large panel next generation sequencing genetic testing, there was no likely alternative genetic etiology for vitelliform maculopathy in this patient.We present a rare case of a ...
Jahrig C, Ku CA, Marra M, Pennesi ME, Yang P.   +4 more
europepmc   +5 more sources

Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)– a cross-sectional study [PDF]

Orphanet Journal of Rare Diseases
Backround Cardiac involvement has been reported in different mitochondrial geno- and phenotypes, including mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like (MELAS) syndrome.
Dietrich Stoevesandt, Axel Schlitt, Philipp Röntgen, Torsten Kraya   +3 more
doaj   +3 more sources

Neovascular Glaucoma in MELAS syndrome. [PDF]

Am J Ophthalmol Case Rep
To describe examination and findings in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) with particular focus on the ocular sequelae from diabetes.Neovascular glaucoma is not a common manifestation of MELAS.We present a rare case of neovascular glaucoma in a patient with MELAS with a history of diabetes ...
Khanna S, Smith BT.
europepmc   +5 more sources

Fahr’s syndrome as the initial imaging characteristics of MELAS syndrome with a possible seizure activity and cardiac arrest: a case report [PDF]

Frontiers in Genetics
This study reported a case of MELAS syndrome presenting as the initial imaging characteristics of Fahr’s syndrome with “near” sudden unexpected death in epilepsy (SUDEP) and lateralized periodic discharges (LPD).
Yan Zheng, Haohao Wu, Meng Zhang, Baogang Huang, Junsu Yang, Chuan Liu, Hanmin Wang, Kang Du   +7 more
doaj   +3 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   +3 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   +3 more sources

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   +3 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   +3 more sources