Results 41 to 50 of about 14,508 (226)
Vitelliform maculopathy in MELAS syndrome
American Journal of Ophthalmology Case Reports, 2023 Purpose: We present a unique case of foveomacular vitelliform lesions in a patient with metabolic encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).
Cody Jahrig +4 more
doaj +1 more source
Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova +9 more
wiley +1 more source
CLINICAL ASSESSMENT FOR THERAPEUTIC EFFICACY OF A SMALL DOSE OF DICHLOROACETATE IN MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (MELAS) [PDF]
, 2005 筋生検・ミトコンドリアDNA遺伝子診断などによりMELASと診断され,脳卒中様発作を繰り返し,頭部MRIで病変が確認された成人MELAS5症例に,少量のジクロロ酢酸を含むLiverall^を投与し,脳卒中様発作を抑制できるか臨床経過を検討した.内服開始後は,全例で頭部MRI画像上病変を認める脳卒中様発作は生じなかった.従来小児科領域で報告されていた必要量よりも少量で発作を抑制できる可能性があると考えられた.しかし,血清中の乳酸・ピルビン酸は異常値を示す場合もあり ...
2180 +19 more
core
Scientific Reports, 2021 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a complicated maternally inherited disorder lacking of sensitive and specific biomarkers.
Yong-Sheng Zheng +10 more
doaj +1 more source
mt tRFs, New Players in MELAS Disease
Frontiers in Physiology, 2022 MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is an OXPHOS disease mostly caused by the m.3243A>G mutation in the mitochondrial tRNALeu(UUR) gene. Recently, we have shown that the mutation significantly changes the
Salvador Meseguer, Mari-Paz Rubio
doaj +1 more source
Advanced Science, EarlyView.Mitochondrial quality control (MQC) collapse redefines osteoarthritis, intervertebral disc degeneration, and osteoporosis as disorders of organelle dysfunction. Damaged mitochondria leak mtDNA and metabolites, driving cGAS‐STING inflammation, epigenetic reprogramming, and metabolic memory.
Haiyang Gao +7 more
wiley +1 more source
Visual memory failure presages conversion to MELAS phenotype
Annals of Clinical and Translational Neurology, 2022 Objective To examine the correlation between verbal and visual memory function and correlation with brain metabolites (lactate and N‐Acetylaspartate, NAA) in individuals with mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes ...
Emily B. Leaffer +8 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness +11 more
wiley +1 more source
Frontiers in NeurologyObjectivesMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a rare maternally inherited disease. The neuropathologic mechanisms and neural network alterations underlying stroke-like episodes (SLEs), a recurrent ...
Qingyun Yu +11 more
doaj +1 more source
Genome-Wide Divergence in the West-African Malaria Vector Anopheles melas
G3: Genes, Genomes, Genetics, 2016 Anopheles melas is a member of the recently diverged An. gambiae species complex, a model for speciation studies, and is a locally important malaria vector along the West-African coast where it breeds in brackish water.
Kevin C. Deitz +5 more
doaj +1 more source