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Cureus Dec 2022Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a mitochondrial disease that lacks a definitive treatment. Lately, there has... (Review)
Review
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a mitochondrial disease that lacks a definitive treatment. Lately, there has been an increased interest in the scientific community about the role of arginine in the short and long-term settings of the disease. We aim to conduct a systematic review of the clinical use of arginine in the management of MELAS and explore the role of arginine in the pathophysiology of the disease. We used PubMed advanced-strategy searches and only included full-text clinical trials on humans written in the English language. After applying the inclusion/exclusion criteria, four clinical trials were reviewed. We used the Meta-analysis of Observational Studies in Epidemiology (MOOSE) guidelines and Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) protocol for this systematic review. We used the Cochrane Collaboration risk-of-bias tool to assess the bias encountered in each study. Overall, IV arginine seems to be effective in improving symptoms during acute attacks of MELAS, while oral arginine supplementation increases endothelial function, preventing further stroke-like episodes.
PubMed: 36686069
DOI: 10.7759/cureus.32709 -
Journal of Neuroradiology = Journal de... Sep 2021Major cerebral vessels have been proposed as a target of defective mitochondrial metabolism in patients with mitochondrial encephalopathy, lactic acidosis, and... (Review)
Review
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). Cerebral angiographic techniques are not routinely performed in MELAS patients. A systematic literature review was performed to identify studies describing major vessel caliber alterations in MELAS. Twenty-three studies reporting on 46 MELAS patients were included. Alterations in major caliber vessels were present in 59% (27/46) of patients. Dilation occurred in 37% (17/46) of patients, and in 88% (15/17) of them during a stroke-like episode (SLE). Stenosis was reported in 24% (11/46) of patients: 36% (4/11) related to an SLE and 64% (7/11) to dissections or degenerative changes. During an SLE, identification of intracranial vessels dilation or stenosis could be a selection tool for new treatment protocols. Outside SLE, identification of major cerebral vessels dissections and degenerative changes may help to prevent subsequent complications.
Topics: Cerebral Angiography; Humans; MELAS Syndrome; Radionuclide Imaging; Stroke
PubMed: 33596430
DOI: 10.1016/j.neurad.2021.02.002 -
Neurology. Genetics Aug 2019Our goal was to perform a systematic review of the literature to demonstrate the prevalence of cardiac abnormalities identified using cardiac investigations in patients...
OBJECTIVE
Our goal was to perform a systematic review of the literature to demonstrate the prevalence of cardiac abnormalities identified using cardiac investigations in patients with mitochondrial myopathy (MM).
METHODS
This systematic review surveys the available evidence for cardiac investigations in MM from a total of 21 studies including 825 participants. Data were stratified by genetic mutation and clinical syndrome.
RESULTS
We identified echocardiogram and ECG as the principal screening modalities that identify cardiac structural (29%) and conduction abnormalities (39%) in various MM syndromes. ECG abnormalities were more prevalent in patients with m.3243A>G mutations than other gene defects, and patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) had a higher prevalence of ECG abnormalities than patients with other clinical syndromes. Echocardiogram abnormalities were significantly more prevalent in patients with m.3243A>G or m.8344A>G mutations compared with other genetic mutations. Similarly, MELAS and MERRF had a higher prevalence compared with other syndromes. We observed a descriptive finding of an increased prevalence of ECG abnormalities in pediatric patients compared with adults.
CONCLUSIONS
This analysis supports the presence of a more severe cardiac phenotype in MELAS and myoclonic epilepsy with ragged red fibres syndromes and with their commonly associated genetic mutations (m.3243A>G and m.8344A>G). This provides the first evidence basis on which to provide more intensive cardiac screening for patients with certain clinical syndromes and genetic mutations. However, the data are based on a small number of studies. We recommend further studies of natural history, therapeutic response, pediatric participants, and cardiac MRI as areas for future investigation.
PubMed: 31403078
DOI: 10.1212/NXG.0000000000000339 -
Journal of the Neurological Sciences May 2020One of the most frequent cerebral lesions in mitochondrial disorders(MIDs) on imaging is the stroke-like lesion(SLL) clinically manifesting as stroke-like episode (SLE,... (Review)
Review
OBJECTIVES
One of the most frequent cerebral lesions in mitochondrial disorders(MIDs) on imaging is the stroke-like lesion(SLL) clinically manifesting as stroke-like episode (SLE, metabolic stroke). This review aims at discussing recent advances concerning the presentation, diagnosis, and treatment of SLLs.
METHODS
Systematic literature review using appropriate search terms.
RESULTS
SLLs are the hallmark of MELAS but occasionally occur in other MIDs. SLLs are best identified on multimodal, cerebral MRI. SLLs may present as uni-/multilocular, symmetric/asymmetric, cortical/subcortical, supra-/infratentorial condition, initially resembling a cytotoxic edema and later a vasogenic edema, or a variable mix between them. SLLs run through an acute and a chronic stage. The acute stage is characterised by a progressively expanding lesion over days, weeks, or months, showing up as increasing hyperintensity on T2/FLAIR, DWI, and PWI and by hyperperfusion, that does not conform to a vascular territory. ADC maps are initially hypointens to become hyperintens during the course. More rarely, a variable mixture of hyper- and hypointensities may be found. The chronic stage is characterised by hypoperfusion, gadolinium enhancement, and regression of hyperintensities to various endpoints. SLLs originate from an initial cortical lesion due to focal metabolic breakdown, which either remains stable or expands within the cortex or to subcortical areas. Some SLLs show spontaneous reversibility (fleeing cortical lesions) suggesting that neuronal/glial damage does not reach the threshold of irreversible cell death.
CONCLUSIONS
SLLs are a unique feature of various MIDs in particular MELAS. SLLs are dynamic and change their appearance over time. SLLs are accessible to treatment.
Topics: Contrast Media; Gadolinium; Humans; MELAS Syndrome; Magnetic Resonance Imaging; Stroke
PubMed: 32088469
DOI: 10.1016/j.jns.2020.116726 -
Der Anaesthesist Jul 2020Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare progressive disease with acute neurological episodes caused by a... (Review)
Review
BACKGROUND
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare progressive disease with acute neurological episodes caused by a mitochondriopathy. Due to a defect of oxidative phosphorylation in the respiratory chain, there is impaired mitochondrial energy production with subsequent lactic acidosis, especially in situations with increased stress. Due to the high risk of metabolic derailment MELAS syndrome is a great challenge with respect to the perioperative management of anesthesia.
OBJECTIVE
This article gives a general overview of the special features of anesthesia management in patients with MELAS syndrome. A case report is presented in order to demonstrate how intraoperative parenteral nutrition can possibly be used to counteract the formation of lactic acidosis.
MATERIAL AND METHODS
A systematic review of the literature was performed. As only very few reports on MELAS syndrome are available, a case report was also integrated into this overview article for illustration purposes.
RESULTS AND CONCLUSION
Patients with MELAS syndrome represent a challenging cohort with respect to management of anesthesia and an intensive monitoring of the metabolic status is crucial. In cases of increasing lactate values, the administration of intraoperative parenteral nutrition seems to be a suitable approach to avoid lactic acidosis and to improve the perioperative treatment of patients with MELAS syndrome in the future.
Topics: Adult; Anesthesia; Anesthesia, General; Anesthesiology; Female; Humans; Intraoperative Care; MELAS Syndrome
PubMed: 32424662
DOI: 10.1007/s00101-020-00793-8 -
International Journal of Surgery Case... 2020Mesenteric artery re-vascularization using bypass or angioplasty is a standard of care in atherosclerotic mesenteric vascular disease. However, there are no certain...
INTRODUCTION
Mesenteric artery re-vascularization using bypass or angioplasty is a standard of care in atherosclerotic mesenteric vascular disease. However, there are no certain guidelines for the management of non-atherosclerotic thrombophilic mesenteric vessel disease other than anti-coagulation.
CASE REPORT
We are reporting a case of a 36 years old lady with post-prandial angina and weight loss on the background of anti-phospholipid syndrome having tripple mesentric vessel occlusive disease who underwent 2 vessel aorto-mesenteric bypass. During the post-op course, patient had laparotomy with diversion ileostomy for ischemic perforation of the bowel. At present, after 6 weeks patient is recovering well with improved appetite and resolution of symptoms.
DISCUSSION
There are very few cases reported with acute on chronic mesenteric ischemia in England. Nikolas Melas et al. reported similar history in a 57 yrs old Caucasian female. Morbi AH2 highlights timely diagnosis of acute mesmeric ischemia in a 53 yrs old.
CONCLUSION
This case report is unique in a way that combined mesenteric ischemia and APS is a rare combination in a 36 years old. Mesenteric artery bypass is one of the possible solutions to thrombophilic mesenteric disease, however larger studies with longer follow up are needed.
PubMed: 32446211
DOI: 10.1016/j.ijscr.2020.04.033