The syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a rare mitochondrial disease with few documented cases in pregnancy. In this case report, we discuss the presentation and management of a 39-year-old grand multiparous lady with MELAS syndrome, which was diagnosed prior to her eighth pregnancy, discuss potential implications of the condition in pregnancy and summarise the current guidelines for the management of this rare condition.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8030665 | PMC |
| http://dx.doi.org/10.1136/bcr-2020-235111 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Multisystem clinicopathologic and genetic analysis of MELAS.
Orphanet J Rare Dis
December 2024
Department of Pathology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Zhongshan Road 321#, Nanjing, 210008, Jiangsu, China.
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. This study provides a comprehensive summary of the clinical symptoms, multisystemic pathogenesis, and genetic characteristics of MELAS syndrome. The aim was to improve comprehension of clinical practice and gain a deeper understanding of the latest pathophysiological theories.
View Article and Find Full Text PDFLong-term prognostic factors and outcomes in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes: a clinical and biochemical marker analysis.
Front Neurol
December 2024
Department of Neurology, Tianjin Huanhu Hospital, Nankai University, Tianjin, China.
Background: MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes) is a common subtype of mitochondrial encephalomyopathy. However, few studies have explored the relationship between biochemical markers and prognosis. This study aimed to explore the relationship between clinical and biochemical markers and prognosis of patients with MELAS.
View Article and Find Full Text PDFRare digestive disease: Mitochondrial neurogastrointestinal encephalomyopathy, review of the literature.
J Dig Dis
December 2024
Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
The median age of patients at diagnosis of mitochondrial neurogastrointestinal encephalomyopathy was 25 years. The most common neurological symptoms were leukoencephalopathy (83.1%), polyneuropathy (68.
View Article and Find Full Text PDFCombined in silico/in vitro approaches for identifying modulators of the activity of the p.Tyr110Cys Carnitine O-Acetyltransferase (CRAT) variant associated to an early onset case of Leigh syndrome.
Acta Pharmacol Sin
December 2024
Laboratory of Biochemistry, Structural and Molecular Biology, Department of Pharmacy - Pharmaceutical Sciences, University of Bari "Aldo Moro", 70125, Bari, Italy.
Carnitine O-acetyltransferase (CRAT) is a crucial enzyme involved in mitochondrial energy metabolism. Alterations in CRAT activity have emerged as significant contributors to the pathogenesis of Leigh syndrome and related mitochondrial disorders. In this study we employed an integrated approach combining in silico docking analysis and virtual screening of chemical libraries with subsequent in vitro validation to identify small molecule modulators of the activity of the wild type (WT) CRAT and the p.
View Article and Find Full Text PDFInhibition of the PI3K-AKT-MTORC1 axis reduces the burden of the m.3243A>G mtDNA mutation by promoting mitophagy and improving mitochondrial function.
Autophagy
December 2024
Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, UCL, London, UK.
Mitochondrial DNA (mtDNA) encodes genes essential for oxidative phosphorylation. The m.3243A>G mutation causes severe disease, including myopathy, lactic acidosis and stroke-like episodes (MELAS) and is the most common pathogenic mtDNA mutation in humans.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!