Results 31 to 40 of about 5,374 (184)

Cellular pathophysiology of MELAS syndrome [PDF]

open access: yes, 2023
MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke- like episodes) syndrome is a rare mitochondrial disorder mainly caused by the m.3243A>G mutation in the mitochondrial DNA. This mutation affects mitochondrial proteins translation, causing a defect in the synthesis of mitochondrial respiratory chain components.
Povea Cabello, Suleva
openaire   +3 more sources

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

open access: yesEur Heart J Case Rep, 2023
Background: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a multi-organ disorder resulting from mitochondrial DNA (mtDNA) mutations.
Lee SH, Lee CJ.
europepmc   +4 more sources

Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

open access: yesLife, 2021
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, a maternally inherited mitochondrial disorder, is characterized by its genetic, biochemical and clinical complexity.
Hueng-Chuen Fan   +3 more
doaj   +1 more source

Multisystem clinicopathologic and genetic analysis of MELAS [PDF]

open access: yesOrphanet 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   +5 more
doaj   +2 more sources

Total intravenous anesthesia with propofol and remifentanil in a patient with MELAS syndrome -A case report- [PDF]

open access: yesKorean Journal of Anesthesiology, 2010
A 23-year-old woman with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) underwent a laparoscopy-assisted appendectomy. MELAS syndrome is a multisystemic disease caused by mitochondrial dysfunction.
Jin Suk Park   +6 more
doaj   +1 more source

Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome [PDF]

open access: yes, 2020
Objective: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a very rare condition; it encompasses a diverse group of disorders including diabetes.
나지훈   +3 more
core   +1 more source

Microhemorrhages in MELAS Lesions: A Case Report

open access: yesJournal of the Belgian Society of Radiology, 2022
Introduction: Microhemorrhages have not been described in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) on magnetic resonance imaging (MRI).
Evelien Martens   +2 more
doaj   +1 more source

Use of remimazolam as an adjunct to general anesthesia for an adolescent with MELAS syndrome. [PDF]

open access: yesPediatric Anesthesia and Critical Care Journal (PACCJ), 2022
MELAS syndrome is an acronym so named because of the characteristic clinical and pathophysiologic features including mitochondrial encephalo-myopathy, lactic aci- dosis, and stroke-like episodes.
N. Gyurgyik   +3 more
doaj   +1 more source

CT and MRI imaging of the brain in MELAS syndrome [PDF]

open access: yes, 2013
Background: MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes) is a rare, multisystem disorder which belongs to a group of mitochondrial metabolic diseases.
Krzyształowski, Adam   +3 more
core   +1 more source

Differential pathophysiology in MELAS syndrome [PDF]

open access: yes, 2015
MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) is a mitochondrial disorder caused mainly by the m.3243A>G mutation in mitochondrial DNA. In this thesis, we report on how the severity of pathophysiological alterations is differently expressed in fibroblasts derived from patients with MELAS disease.
Garrido Maraver, Juan
openaire   +3 more sources

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