Results 1 to 10 of about 5,347 (184)

A case of myocardial involvement in patient with MELAS syndrome [PDF]

open access: yes, 2004
MELAS syndrome is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, and cardiac involvement also frequently occurs. A 42-year-old female was admitted because of stroke like episodes and dyspnea.
홍그루   +6 more
core  

Major cerebral vessels involvement in patients with MELAS syndrome: Worth a scan? A systematic review

open access: yes, 2021
Major cerebral vessels have been proposed as a target of defective mitochondrial metabolism in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS).
Cortesi, Irene   +7 more
core   +1 more source

Screening for MELAS mutations in young patients with stroke of undetermined origin Mutações relacionadas à síndrome de MELAS em pacientes jovens com acidente vascular cerebral de etiologia indeterminada

open access: yesArquivos de Neuro-Psiquiatria, 2007
PURPOSE: It has been suggested that mitochondrial disease may be responsible for a substantial proportion of strokes of indetermined origin. We have preliminarily screened for MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like ...
Adriana Bastos Conforto   +6 more
doaj   +1 more source

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

open access: yes, 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.   +4 more
core  

Psychiatric disturbances in a patient with melas syndrome: A case report

open access: yes, 2016
Introduction Mitochondrial disorders of energetic metabolism (MD) represent a heterogeneous group of diseases manifesting at any age and its one of a number of mitochondria syndromes that share the common characteristics of encephalopathy and myopathy.
RIZZA, Maria Cristina   +7 more
core   +1 more source

MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach [PDF]

open access: yes, 2016
A 49-year-old man presented with chest pain, dyspnea, and lactic acidosis. Left ventricular hypertrophy and myocardial fibrosis were detected. The sequencing of mitochondrial genome (mtDNA) revealed the presence of A to G mtDNA point mutation at position
Anna Rubegni   +23 more
core   +1 more source

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

open access: yesBMC 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   +8 more
doaj   +1 more source

Application of molecular imaging combined with genetic screening in diagnosing MELAS, diabetes and recurrent pancreatitis

open access: yes, 2016
Aim: We report molecular imaging combined with gene diagnosis in a family with 7 members who carried an A3243G mutation in mitochondrial tRNA and p.Thr 137 Met in cationic trypsinogen (PRSS1) gene presented with mitochondrial encephalomyopathy, lactic ...
Zhou Jian   +4 more
core   +1 more source

Stroke in young adult with MELAS syndrome

open access: yes, 2004
MELAS Sendromu; mitokondrial ensefalopati, laktik asidoz, tekrarlayan inme benzeri epizodlarla karekterize nadir görülen mitokondrial bir hastalıktır. Nöbetler, başağrısı, bulantı, kusma, egzersiz intoleransı ve ragged red fiber görülür.
Yakup Sarıca   +4 more
core  

A MELAS syndrome family harboring two mutations in mitochondrial genome

open access: yes, 2018
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous mitochondrial disorder with variable clinical symptoms.
이향운, 최병옥
core   +1 more source

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