scholarly journals OC18.03: Prenatal‐exome sequencing in recurrent fetal structural anomalies: systematic review and meta‐analysis

2021 ◽  
Vol 58 (S1) ◽  
pp. 52-52
Author(s):  
A. Borrell ◽  
M. Pauta ◽  
R.J. Martinez‐Portilla
Keyword(s):  
Systematic Review ◽  
Exome Sequencing ◽  
Meta Analysis ◽  
Structural Anomalies

scholarly journals Whole exome sequencing of cell-free DNA – A systematic review and Bayesian individual patient data meta-analysis

2020 ◽  
Vol 83 ◽  
pp. 101951 ◽  
Author(s):  
Manouk K. Bos ◽  
Lindsay Angus ◽  
Kazem Nasserinejad ◽  
Agnes Jager ◽  
Maurice P.H.M. Jansen ◽  
...  
Keyword(s):  
Systematic Review ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Individual Patient Data ◽  
Meta Analysis ◽  
Patient Data ◽  
Cell Free Dna ◽  
Free Dna ◽  
Whole Exome

scholarly journals Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability A systematic review and meta-analysis

2020 ◽  
Author(s):  
Arthur Stefanski ◽  
Yamile Calle-López ◽  
Costin Leu ◽  
Eduardo Pérez-Palma ◽  
Elia Pestana-Knight ◽  
...  
Keyword(s):  
Systematic Review ◽  
Autism Spectrum Disorder ◽  
Exome Sequencing ◽  
Neurodevelopmental Disorders ◽  
Diagnostic Yield ◽  
Meta Analysis ◽  
Autism Spectrum ◽  
Clinical Genetic ◽  
Clinical Sequencing ◽  
Sequencing Studies

Abstract Importance: Clinical genetic sequencing is frequently utilized to diagnose individuals with neurodevelopmental disorders (NDDs). Several reviews have been published regarding clinical genetic testing in various NDD subtypes. However, there is no systematic review and meta-analysis – in accordance with the PRISMA guidelines – which compares the genetic testing yield across neurodevelopmental disorder subtypes and sequencing technology. Objective: To perform a meta-analysis and systematic review of the success rate (diagnostic yield) of clinical sequencing through NGS across NDDs. Data Sources: Systematic review of the literature from PubMed until July 2019 for clinical sequencing studies that utilized NGS in individuals with epilepsy, autism spectrum disorder (ASD), or intellectual disability (ID). Study Selection: Data were taken from clinical sequencing studies that screened more than five genes and performed variant classification in at least 20 individuals with epilepsy, ASD, or ID. 5.6% of identified studies met the selection criteria. Data Extraction and Synthesis: Data were extracted, reviewed, and categorized according to PRISMA guidelines. Clinical evaluation and grouping were performed by two investigators following the ILAE guidelines. Pooled rates of the diagnostic yield and 95% confidence intervals were estimated with a random-effects model and adjusted for publication bias by the Duval and Tweedie procedure. Main Outcomes and Measures: Diagnostic yield, defined as the proportion of individuals in a cohort who received a diagnosis based on a positive genetic test with variants identified as pathogenic or likely pathogenic. Results: We identified 79 studies (epilepsy, n = 54; ASD, n = 13; ID, n = 17) across 29,301 individuals. Targeted gene panel sequencing was used in 53 cohorts and exome sequencing (ES) in 27 cohorts. The diagnostic yield was 16.7% for epilepsy, 20.2% for ASD, 24.8% for ID, and 16.6% overall. The diagnostic yield was significantly higher for exome sequencing compared to panels (33.9% vs. 16.2%, P = 1.38×10−5). We observed that the number of clinical sequencing studies increased annually, particularly studies from Asia (0-2 per year between 2012 and 2017, up to 10 in 2018). No studies from Africa, India, or Latin America were identified. We also found that recent studies are more likely to report variants of uncertain significance and few studies reported benign variants. Conclusions and Relevance: This meta-analysis and systematic review provides a comprehensive overview of clinical sequencing studies of NDDs, which will help guide policymaking and steer decision-making in patient management. Key Points Question What is the diagnostic yield of next-generation sequencing (NGS) in neurodevelopmental disorders and their subtypes? Findings In this systematic review and meta-analysis of 79 studies that include 29,301 individuals, the overall diagnostic yield was 16.6% (16.7% for epilepsy, 20.2% for ASD, and 24.8% for ID). Across all studies, downstream analyses showed a significant difference in yield between exome sequencing (33.9%) and targeted gene panels (16.2%). Meaning Around one in five NDD patients will receive a diagnosis using NGS, especially when investigating the whole exome.

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.

The association between dietary inflammatory index and risk of central obesity in adults: An updated systematic review and meta-analysis

2020 ◽  
Vol 90 (5-6) ◽  
pp. 535-552 ◽  
Author(s):  
Mahdieh Abbasalizad Farhangi ◽  
Mahdi Vajdi
Keyword(s):  
Systematic Review ◽  
Observational Studies ◽  
Central Obesity ◽  
Assessment Tool ◽  
Weighted Mean Difference ◽  
Meta Analysis ◽  
Dietary Factors ◽  
Cross Sectional ◽  
Inflammatory Status ◽  
Obesity Indices

Abstract. Backgrounds: Central obesity, as a pivotal component of metabolic syndrome is associated with numerous co-morbidities. Dietary factors influence central obesity by increased inflammatory status. However, recent studies didn’t evaluate the association between central obesity and dietary inflammation index (DII®) that give score to dietary factors according to their inflammatory potential. In the current systematic review and meta-analysis, we summarized the studies that investigated the association between DII® with central obesity indices in the general populations. Methods: In a systematic search from PubMed, SCOPUS, Web of Sciences and Cochrane electronic databases, we collected relevant studies written in English and published until 30 October 2019. The population of included studies were apparently healthy subjects or individuals with obesity or obesity-related diseases. Observational studies that evaluated the association between DII® and indices of central obesity including WC or WHR were included. Results: Totally thirty-two studies were included; thirty studies were cross-sectional and two were cohort studies with 103071 participants. Meta-analysis of observational studies showed that higher DII® scores were associated with 1.81 cm increase in WC (Pooled weighted mean difference (WMD) = 1.813; CI: 0.785–2.841; p = 0.001). Also, a non-significant increase in the odds of having higher WC (OR = 1.162; CI: 0.95–1.43; p = 0.154) in the highest DII category was also observed. In subgroup analysis, the continent, dietary assessment tool and gender were the heterogeneity sources. Conclusion: The findings proposed that adherence to diets with high DII® scores was associated with increased WC. Further studies with interventional designs are necessary to elucidate the causality inference between DII® and central obesity indices.

Fear of pain and pain intensity: Meta-analysis and systematic review.

2020 ◽  
Vol 146 (5) ◽  
pp. 411-450 ◽  
Author(s):  
Tobias Markfelder ◽  
Paul Pauli
Keyword(s):  
Systematic Review ◽  
Pain Intensity ◽  
Meta Analysis ◽  
Fear Of Pain
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