scholarly journals Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy

2019 ◽  
Vol 5 (4) ◽  
pp. e339 ◽  
Author(s):  
Asfia Quadir ◽  
Carly Sabine Pontifex ◽  
Helen Lee Robertson ◽  
Christopher Labos ◽  
Gerald Pfeffer
Keyword(s):  
Systematic Review ◽  
Mitochondrial Myopathy ◽  
Meta Analysis ◽  
Genetic Mutation ◽  
Clinical Syndrome ◽  
Genetic Mutations ◽  
Cardiac Phenotype ◽  
Clinical Syndromes ◽  
Gene Defects ◽  
Ecg Abnormalities

ObjectiveOur 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).MethodsThis 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.ResultsWe 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.ConclusionsThis 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.

scholarly journals Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review

2021 ◽  
pp. 1-18
Author(s):  
Saranya Varadarajan ◽  
Thodur Madapusi Balaji ◽  
A. Thirumal Raj ◽  
Archana A. Gupta ◽  
Shankargouda Patil ◽  
...  
Keyword(s):  
Systematic Review ◽  
Gene Mutation ◽  
Large Scale ◽  
Genetic Mutation ◽  
Pedigree Analysis ◽  
Genetic Mutations ◽  
Future Studies ◽  
Pierre Robin Syndrome ◽  
Comprehensive Collection ◽  
Pierre Robin

Pierre Robin syndrome/sequence (PRS) is associated with a triad of symptoms that includes micrognathia, cleft palate, and glossoptosis that may lead to respiratory obstruction. The syndrome occurs in 2 forms: nonsyndromic PRS (nsPRS), and PRS associated with other syndromes (sPRS). Studies have shown varying genetic mutations associated with both nsPRS and sPRS. The present systematic review aims to provide a comprehensive collection of published literature reporting genetic mutations in PRS. Web of Science, PubMed, and Scopus were searched using the keywords: “Pierre Robin syndrome/sequence AND gene mutation.” The search resulted in 208 articles, of which 93 were excluded as they were duplicates/irrelevant. The full-text assessment led to the further exclusion of 76 articles. From the remaining 39 articles included in the review, details of 324 cases were extracted. 56% of the cases were sPRS, and 22% of the cases were associated with other malformations and the remaining were nsPRS. Genetic mutations were noted in 30.9% of the 300 cases. Based on the review, SOX9 was found to be the most common gene associated with both nsPRS and sPRS. The gene mutation in sPRS was specific to the associated syndrome. Due to the lack of original studies, a quantitative analysis was not possible. Thus, future studies must focus on conducting large-scale cohort studies. Along with generating data on genetic mutation, future studies must also conduct pedigree analysis to assess potential familial inheritance, which in turn could provide valuable insights into the etiopathogenesis of PRS.

scholarly journals Chloroquine and Hydroxychloroquine for the treatment of COVID-19: A Systematic Review and Meta-analysis

2020 ◽  
Author(s):  
Arunmozhimaran Elavarasi ◽  
Manya Prasad ◽  
Tulika Seth ◽  
Ranjit Kumar Sahoo ◽  
Karan Madan ◽  
...  
Keyword(s):  
Systematic Review ◽  
Randomized Trials ◽  
Meta Analysis ◽  
Standard Of Care ◽  
Efficacy And Safety ◽  
Quality Of Evidence ◽  
Newcastle Ottawa Scale ◽  
Ecg Abnormalities ◽  
Ottawa Scale

Background: There is no effective therapy for COVID-19. Hydroxychloroquine (HCQ) and chloroquine (CQ) have been used for its treatment but their safety and efficacy remain uncertain. Objective: We performed a systematic review to synthesize the available data on the efficacy and safety of CQ and HCQ for the treatment of COVID-19. Methods: Two reviewers searched for published and pre-published relevant articles between December 2019 to 8th June 2020. The data from the selected studies were abstracted and analyzed for efficacy and safety outcomes. Critical appraisal of the evidence was done by Cochrane risk of bias tool and Newcastle Ottawa scale. The quality of evidence was graded as per the GRADE approach. Results: We reviewed 12 observational and 3 randomized trials which included 10659 patients of whom 5713 received CQ/HCQ and 4966 received only standard of care. The efficacy of CQ/HCQ for COVID-19 was inconsistent across the studies. Meta-analysis of included studies revealed no significant reduction in mortality with HCQ use [RR 0.98 95% CI 0.66-1.46] , time to fever resolution [mean difference -0.54 days (-1.19-011)] or clinical deterioration/development of ARDS with HCQ [RR 0.90 95% CI 0.47-1.71]. There was a higher risk of ECG abnormalities/arrhythmia with HCQ/CQ [RR 1.46 95% CI 1.04 to 2.06]. The quality of evidence was graded as very low for these outcomes. Conclusions: The available evidence suggests that CQ or HCQ does not improve clinical outcomes in COVID-19. Well-designed randomized trials are required for assessing the efficacy and safety of HCQ and CQ for COVID-19.

scholarly journals Prevalence of Electrocardiographic Abnormalities Among People Living With HIV/AIDS in Sub-saharan Africa: Protocol for a Systematic Review and Meta-analysis

2021 ◽  
Author(s):  
Andrew Weil M Semulimi ◽  
Andrew Peter Kyazze ◽  
John Mukisa ◽  
Charles Batte ◽  
Felix Bongomin
Keyword(s):  
Systematic Review ◽  
Cardiovascular Diseases ◽  
Meta Analysis ◽  
Sub Saharan Africa ◽  
Cochrane Library ◽  
People Living With Hiv ◽  
Sub Saharan ◽  
Living With Hiv ◽  
Ecg Abnormalities ◽  
Hiv Aids

Abstract IntroductionElectrocardiographic (ECG) abnormalities are highly prevalent among people living with HIV/AIDS (PLWHA) contributing to the rising burden of cardiovascular diseases among this population. Sub-Saharan Africa (SSA) contributes more than two thirds to the global burden of HIV/AIDS. However, an accurate account of the prevalence of ECG abnormalities in SSA is unknown. This study aims to determine the prevalence of ECG abnormalities among PLWHA in Sub-Saharan Africa. Methods and analysisA systematic review and meta-analysis will be conducted. Databases including EMBASE, MEDLINE, African Journal Online and The Cochrane Library (Cochrane Central Register of Controlled Trials (CENTRAL), and Cochrane Methodology Register) will be used to search for studies published between 1st January 2000 and 31st December 2020. Studies reporting any form of ECG abnormalities will be considered. Additionally, articles in both English and French will be reviewed. Articles will be screened and reviewed by two independent reviewers to determine their eligibility and any disagreement will be resolved through discussions with fourth and fifth reviewer. Eligibility of the studies will be assessed and judged based on the pre-set criteria. Retrieved studies will be assessed for validity using the Cochrane risk of bias tool and the modified Newcastle Ottawa Scale by two reviewers. Analysis of proportions will be done using STATA MP Version 16.0. A p<0.05 will be considered statistically significant.DiscussionIn the face of a growing burden of cardiovascular diseases among PLWHA, this study will provide an estimate of ECG abnormalities among PLWHA which will emphasize the importance of ECGs in screening for cardiovascular diseases in this population.Systematic review registration numberCRD42021243664.

The effects of low-ratio n-6/n-3 PUFA on biomarkers of inflammation: a systematic review and meta-analysis

2021 ◽  
Author(s):  
Yali Wei ◽  
Yan Meng ◽  
Na Li ◽  
Qian Wang ◽  
Liyong Chen
Keyword(s):  
Systematic Review ◽  
Fatty Acid ◽  
Polyunsaturated Fatty Acid ◽  
Meta Analysis ◽  
Chain Polyunsaturated Fatty Acid ◽  
Inflammation Markers ◽  
Pufa Supplementation ◽  
Long Chain

The purpose of the systematic review and meta-analysis was to determine if low-ratio n-6/n-3 long-chain polyunsaturated fatty acid (PUFA) supplementation affects serum inflammation markers based on current studies.

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