scholarly journals Prevalence and Characteristics of STRC Gene Mutations (DFNB16): A Systematic Review and Meta-Analysis

2021 ◽  
Vol 12 ◽  
Author(s):  
Shuang Han ◽  
Dejun Zhang ◽  
Yingyuan Guo ◽  
Zeming Fu ◽  
Guofang Guan
Keyword(s):  
Systematic Review ◽  
Hearing Loss ◽  
Autosomal Recessive ◽  
Web Of Science ◽  
Meta Analysis ◽  
Gene Mutations ◽  
Copy Number Variations ◽  
Pooled Prevalence ◽  
Syndromic Hearing Loss ◽  
Moderate Hearing Loss

Background: Mutations in the STRC (MIM 606440) gene, inducing DFNB16, are considered a major cause of mild–moderate autosomal recessive non-syndromic hearing loss (ARNSHL). We conducted a systematic review and meta-analysis to determine the global prevalence and characteristics of STRC variations, important information required for genetic counseling.Methods: PubMed, Google Scholar, Medline, Embase, and Web of Science were searched for relevant articles published before January 2021.Results: The pooled prevalence of DFNB16 in GJB2-negative patients with hearing loss was 4.08% (95% CI: 0.0289–0.0573), and the proportion of STRC variants in the mild–moderate hearing loss group was 14.36%. Monoallelic mutations of STRC were 4.84% (95% CI: 0.0343–0.0680) in patients with deafness (non-GJB2) and 1.36% (95% CI: 0.0025–0.0696) in people with normal hearing. The DFNB16 prevalence in genetically confirmed patients (non-GJB2) was 11.10% (95% CI: 0.0716–0.1682). Overall pooled prevalence of deafness–infertility syndrome (DIS) was 36.75% (95% CI: 0.2122–0.5563) in DFNB16. The prevalence of biallelic deletions in STRC gene mutations was 70.85% (95% CI: 0.5824–0.8213).Conclusion: Variants in the STRC gene significantly contribute to mild–moderate hearing impairment. Moreover, biallelic deletions are a main feature of STRC mutations. Copy number variations associated with infertility should be seriously considered when investigating DFNB16.

scholarly journals Prevalence of Invasive Streptococcus pneumoniae Infections among Iranian Children: A Systematic Review and Meta-Analysis

2021 ◽  
Author(s):  
Arshid Yousefi Avarvand ◽  
Mehrdad Halaji ◽  
Donya Zare ◽  
Meysam Hasannejad-Bibalan ◽  
Hadi Sedigh Ebrahim-Saraie
Keyword(s):  
Systematic Review ◽  
Streptococcus Pneumoniae ◽  
Web Of Science ◽  
Data Extraction ◽  
Meta Analysis ◽  
Single Center ◽  
Inclusion Criteria ◽  
Pooled Prevalence ◽  
Iranian Children ◽  
The Web

Background: Streptococcus pneumoniae is an important pathogen of children, mostly in developing countries. We aimed to investigate the prevalence of invasive S. pneumoniae among Iranian children using a systematic review and meta-analysis. Methods: A systematic search was carried out to identify papers published by Iranian authors in the Web of Science, PubMed, Scopus, and Google Scholar electronic databases from January of 2010 to December of 2017. Then, seven publications that met our inclusion criteria were selected for data extraction and analysis. Results: Totally, one study was multicenter, and six were single-center based studies. Meanwhile, all of the included studied performed among hospitalized patients. Seven studies reported the prevalence of invasive S. pneumoniae isolated from children, of these the pooled prevalence of S. pneumoniae was 2.5% (95% CI: 0.7%-9.1%). Conclusion: The overall prevalence of invasive S. pneumoniae infections among Iranian children is low (2.5%). However, further clinical studies are required to elucidate the burden of infections among Iranian children, especially in eastern regions.

scholarly journals Hypertension and frailty: a systematic review and meta-analysis

BMJ Open ◽  
2018 ◽  
Vol 8 (12) ◽  
pp. e024406 ◽  
Author(s):  
Davide L Vetrano ◽  
Katie M Palmer ◽  
Lucia Galluzzo ◽  
Simona Giampaoli ◽  
Alessandra Marengoni ◽  
...  
Keyword(s):  
Systematic Review ◽  
Web Of Science ◽  
Meta Analysis ◽  
Hypertension Status ◽  
Cross Sectional ◽  
Pooled Prevalence ◽  
High Prevalence ◽  
Registration Number ◽  
Definition Of ◽  
Study Setting

ObjectiveTo review the association between hypertension and frailty in observational studies.DesignA systematic review of the PubMed, Web of Science and Embase databases was performed. A meta-analysis was performed if at least three studies used the same definition of frailty and a dichotomous definition of hypertension.Setting, participants and measuresStudies providing information on the association between frailty and hypertension in adult persons, regardless of the study setting, study design or definition of hypertension and frailty were included.ResultsAmong the initial 964 articles identified, 27 were included in the review. Four longitudinal studies examined the incidence of frailty according to baseline hypertension status, providing conflicting results. Twenty-three studies assessed the cross-sectional association between frailty and hypertension: 13 of them reported a significantly higher prevalence of frailty in hypertensive participants and 10 found no significant association. The pooled prevalence of hypertension in frail individuals was 72% (95% CI 66% to 79%) and the pooled prevalence of frailty in individuals with hypertension was 14% (95% CI 12% to 17%). Five studies, including a total of 7656 participants, reported estimates for the association between frailty and hypertension (pooled OR 1.33; 95% CI 0.94 to 1.89).ConclusionsFrailty is common in persons with hypertension. Given the possible influence of frailty on the risk–benefit ratio of treatment for hypertension and its high prevalence, it is important to assess the presence of this condition in persons with hypertension.Trial registration numberCRD42017058303.

scholarly journals Drug resistance markers within an evolving efficacy of anti-malarial drugs in Cameroon: a systematic review and meta-analysis (1998–2020)

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Peter Thelma Ngwa Niba ◽  
Akindeh M. Nji ◽  
Marie-Solange Evehe ◽  
Innocent M. Ali ◽  
Palmer Masumbe Netongo ◽  
...  
Keyword(s):  
Systematic Review ◽  
Drug Resistance ◽  
Resistance Genes ◽  
Meta Analysis ◽  
Gene Mutations ◽  
Artemisinin Resistance ◽  
Molecular Data ◽  
Nucleotide Polymorphisms ◽  
Pooled Prevalence ◽  
Resistance Markers

Abstract Background Malaria remains highly endemic in Cameroon. The rapid emergence and spread of drug resistance was responsible for the change from monotherapies to artemisinin-based combinations. This systematic review and meta-analysis aimed to determine the prevalence and distribution of Plasmodium falciparum drug resistance markers within an evolving efficacy of anti-malarial drugs in Cameroon from January 1998 to August 2020. Methods The PRISMA-P and PRISMA statements were adopted in the inclusion of studies on single nucleotide polymorphisms (SNPs) of P. falciparum anti-malarial drug resistance genes (Pfcrt, Pfmdr1, Pfdhfr, Pfdhps, Pfatp6, Pfcytb and Pfk13). The heterogeneity of the included studies was evaluated using the Cochran’s Q and I2 statistics. The random effects model was used as standard in the determination of heterogeneity between studies. Results Out of the 902 records screened, 48 studies were included in this aggregated meta-analysis of molecular data. A total of 18,706 SNPs of the anti-malarial drug resistance genes were genotyped from 47,382 samples which yielded a pooled prevalence of 35.4% (95% CI 29.1–42.3%). Between 1998 and 2020, there was significant decline (P < 0.0001 for all) in key mutants including Pfcrt 76 T (79.9%-43.0%), Pfmdr1 86Y (82.7%-30.5%), Pfdhfr 51I (72.2%-66.9%), Pfdhfr 59R (76.5%-67.8%), Pfdhfr 108 N (80.8%-67.6%). The only exception was Pfdhps 437G which increased over time (30.4%-46.9%, P < 0.0001) and Pfdhps 540E that remained largely unchanged (0.0%-0.4%, P = 0.201). Exploring mutant haplotypes, the study observed a significant increase in the prevalence of Pfcrt CVIET mixed quintuple haplotype from 57.1% in 1998 to 57.9% in 2020 (P < 0.0001). In addition, within the same study period, there was no significant change in the triple Pfdhfr IRN mutant haplotype (66.2% to 67.3%, P = 0.427). The Pfk13 amino acid polymorphisms associated with artemisinin resistance were not detected. Conclusions This review reported an overall decline in the prevalence of P. falciparum gene mutations conferring resistance to 4-aminoquinolines and amino alcohols for a period over two decades. Resistance to artemisinins measured by the presence of SNPs in the Pfk13 gene does not seem to be a problem in Cameroon. Systematic review registration PROSPERO CRD42020162620

Screening for gap junction protein beta-2 gene mutations in Malays with autosomal recessive, non-syndromic hearing loss, using denaturing high performance liquid chromatography

2008 ◽  
Vol 122 (12) ◽  
pp. 1284-1288 ◽  
Author(s):  
Z Siti Aishah ◽  
M D Mohd Khairi ◽  
A R Normastura ◽  
Z Zafarina ◽  
B A Zilfalil
Keyword(s):  
Hearing Loss ◽  
High Performance Liquid Chromatography ◽  
Gap Junction ◽  
High Performance ◽  
Autosomal Recessive ◽  
Gene Mutations ◽  
Junction Protein ◽  
Syndromic Hearing Loss ◽  
Gap Junction Protein ◽  
Beta 2

AbstractObjective:To determine the frequency and type of gap junction protein beta-2 gene mutations in Malay patients with autosomal recessive, non-syndromic hearing loss.Methods:A total of 33 Malay patients with autosomal recessive, non-syndromic hearing loss were screened for mutations in the Cx26 coding region. Deoxyribonucleic acid was extracted from buccal swab samples and subjected to polymerase chain reaction. Slow-reannealing was performed, followed by screening using denaturing high performance liquid chromatography.Results:Eight of the samples (24.2 per cent) showed heterozygous peaks, and further sequencing of these samples revealed four patients (50.0 per cent) with the W24X mutation, two (25.0 per cent) with the V37I mutation and another two (25.0 per cent) with the G4D mutation.Conclusions:Analysis of buccal swab samples by denaturing high performance liquid chromatography is noninvasive and suitable for rapid and reliable screening of gap junction protein beta-2 gene mutations in patients with autosomal recessive, non-syndromic hearing loss. Malay patients with autosomal recessive, non-syndromic hearing loss have different kinds of gap junction protein beta-2 gene mutations which are rarely found in other populations.

scholarly journals Prevalence of dysphagia in patients with multiple sclerosis; a systematic review and meta-analysis

2021 ◽  
Author(s):  
Omid Mirmosayyeb ◽  
Narges Ebrahimi ◽  
Arman Shekarian ◽  
Sara Bagherieh ◽  
Alireza Afshari-Safavi ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Systematic Review ◽  
Literature Search ◽  
Web Of Science ◽  
Meta Analysis ◽  
Final Analysis ◽  
Self Report ◽  
Pooled Prevalence ◽  
Screening Strategies ◽  
Conference Papers

Objectives: Dysphagia is a major comorbidity observed in patients with multiple sclerosis, yet different prevalence rates are reported for it. Therefore, we have designed this systematic review to estimate the pooled prevalence of dysphagia in patients with MS. Method: We searched PubMed, Scopus, EMBASE, Web of Science, and gray literature including references from the identified studies, reviews studies, and conference abstracts which were published up to February 2021. Articles that were relevant to our topic and could provide information regarding the prevalence of dysphagia among MS patients were included; however, articles with self-report screening strategies were excluded. Results: The literature search found 1993 articles. After eliminating duplicates, 1272 articles remained. Sixteen abstract conference papers were included for final analysis. A total of 10846 MS cases and 4913 MS patients with dysphagia included in the analysis. The pooled prevalence of dysphagia in the included studies was 45.3% (95% CI: [40.7%-50%]) Conclusion: The results of this systematic review shows that the prevalence of dysphagia in MS patients is 45% which is greatly higher compared to the general population.

Epidemiology of extended-spectrum β-lactamase and metallo-β-lactamase-producing Escherichia coli in South Asia

2021 ◽  
Author(s):  
Kamrul Islam ◽  
Aaron J Heffernan ◽  
Saiyuri Naicker ◽  
Andrew Henderson ◽  
Mohammed Abdul Hassen Chowdhury ◽  
...  
Keyword(s):  
Escherichia Coli ◽  
Systematic Review ◽  
South Asia ◽  
Web Of Science ◽  
Meta Analysis ◽  
Clinical Isolates ◽  
E Coli ◽  
Extended Spectrum ◽  
Pooled Prevalence ◽  
High Prevalence

Aim: To determine the prevalence of extended-spectrum β-lactamase (ESBL) and metallo-β-lactamase (MBL)-producing Escherichia coli in South Asia. Methodology: A systematic review and meta-analysis of data published in PubMed, EMBASE, Web of Science and Scopus. Results: The pooled prevalence of ESBL and MBL-producing E. coli in South Asia were 33% (95% CI: 27–40%) and 17% (95% CI: 12–24%), respectively. The prevalence of blaCTX-M type was 58% (95% CI: 49–66%) with blaCTX-M-15 being the most prevalent (51%, 95% CI: 40–62%) variant. The most prevalent MBL variant was blaNDM-1 (33%, 95% CI: 20–50%). Conclusion: This study suggests a high prevalence of ESBLs and MBLs among E. coli clinical isolates. Comprehensive resistance surveillance is required to guide clinicians prescribing antibiotics in South Asia.

Gender differences in blindness, cataract blindness and cataract surgical coverage in India: a systematic review and meta-analysis

2019 ◽  
Vol 104 (2) ◽  
pp. 220-224 ◽  
Author(s):  
Manya Prasad ◽  
Sumit Malhotra ◽  
Mani Kalaivani ◽  
Praveen Vashist ◽  
Sanjeev K Gupta
Keyword(s):  
Systematic Review ◽  
Gender Differences ◽  
Literature Search ◽  
Web Of Science ◽  
Meta Analysis ◽  
Risk Of Bias ◽  
Gender Differentials ◽  
Indian Context ◽  
Pooled Prevalence ◽  
Meta Analyses

BackgroundThe magnitude of blindness is unevenly distributed worldwide. This systematic review aimed to study gender differences in the prevalence of blindness, cataract blindness and cataract surgical coverage in India among persons aged 50 years and above.MethodsLiterature search was carried out in the Medline, Web of Science, Google Scholar, EMBASE and Trip databases. Data were abstracted and risk of bias was assessed for the selected full-text articles. Pooled prevalence, ORs and risk differences were synthesised by meta-analyses.Results22 studies were included in the systematic review. The pooled prevalence of blindness obtained for men was 4.17% and that for women was 5.68%. Women had 35% higher odds of being blind (OR 1.35, 95% CI 1.08 to 1.62) and 69% higher odds of being cataract blind (OR 1.69, 95% CI 1.44 to 1.95). Women had a 27% lower odds of getting cataract surgery (OR 0.73, 95% CI 0.45 to 1.01). In women, around 35% of the prevalence of blindness and 33% of the prevalence of cataract blindness are attributable to their gender.ConclusionMarked gender differences in blindness, cataract blindness and cataract surgical coverage were seen in India, with the odds being unfavourable for women. Interventions implemented for reduction of blindness, including cataract blindness, need to consider these gender differentials in the Indian context. Further research is needed to ascertain the reasons for these differences and devise interventions to reduce these differences in order to tackle the magnitude of avoidable blindness in India.

scholarly journals Incidence and prevalence of systemic sclerosis globally: a comprehensive systematic review and meta-analysis

Rheumatology ◽  
2021 ◽  
Author(s):  
Majd Bairkdar ◽  
Marios Rossides ◽  
Helga Westerlind ◽  
Roger Hesselstrand ◽  
Elizabeth V Arkema ◽  
...  
Keyword(s):  
Systematic Review ◽  
Web Of Science ◽  
Meta Analysis ◽  
Case Definition ◽  
Random Effects Models ◽  
Pooled Prevalence ◽  
Prisma Statement ◽  
The World ◽  
Large Heterogeneity ◽  
Meta Analyses

Abstract Objectives We aimed to conduct a systematic review and meta-analysis on the incidence and prevalence of SSc covering the entire literature. Methods This study followed the recommendations of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement of 2009. We conducted a systematic search in MEDLINE, Web of Science and Embase to identify articles reporting incidence and/or prevalence of SSc. Two authors conducted the search, reviewed articles for inclusion and extracted relevant data. We used random-effects models to estimate the pooled prevalence and incidence of SSc and performed subgroup analyses by sex, case definition and region to investigate heterogeneity. We explored the association between calendar period and reported estimates using meta-regression. Results Among 6983 unique records identified, we included 61 studies of prevalence and 39 studies of incidence in the systematic review. The overall pooled prevalence of SSc was 17.6 (95% CI 15.1, 20.5) per 100 000 and the overall pooled incidence rate of SSc was 1.4 (95% CI 1.1, 1.9) per 100 000 person-years. We observed significant regional variations in reported estimates; studies conducted in North America reported considerably higher estimates than other regions. The pooled incidence and prevalence in women were five times higher than in men. More recent studies reported higher estimates than older ones. Conclusion In this comprehensive review of the incidence and prevalence of SSc across the world, there was large heterogeneity among estimates, which should be taken into consideration when interpreting the results.

scholarly journals Root causes of elective surgical case cancellation in Ethiopia: a systematic review and meta-analysis

2020 ◽  
Author(s):  
Yeneabat Birhanu Yohanes ◽  
Aklilu Endalamaw Sinshaw ◽  
Aynalem Adu Ayisa
Keyword(s):  
Systematic Review ◽  
Web Of Science ◽  
Meta Analysis ◽  
Surgical Operation ◽  
Common Root ◽  
Careful Planning ◽  
Root Cause ◽  
Surgical Case ◽  
Pooled Prevalence ◽  
Study Participants

Abstract Background: Cancellation of elective surgical operation recognized as a major cause of emotional trauma to patients as well as their families. In Ethiopia, prevalence and root causes for elective surgical case cancellation varies from time to time in different settings. This systematic review and meta-analysis aimed to find the pooled prevalence and root causes for elective surgical case cancellation in Ethiopia.Methods: The databases for the search were Web of Science, PubMed, and Google Scholar. The last literature search was performed on February 8, 2020. To assess publication bias Egger's regression analysis was applied. The pooled estimation was estimated using random-effects model meta-analysis. Subgroup analysis was also done based on the root causes of surgical case cancellation. Results: This meta-analysis included a total of 5 studies with 5591 study participants. The pooled prevalence of elective surgical case cancellation was 21.41% (95% CI: 12.75 to 30.06%).Administration-related reason (34.50%) was the most common identified root cause, followed by surgeon (25.29%), medical (13.90%), and patient-related reasons (13.34%).Conclusion: The prevalence of elective surgical case cancellation was considerable. The most common root cause for elective surgical case cancellation was administration-related reasons, followed by the surgeon, medical and patient-related reasons. The causes for the surgical cancellations are potentially preventable. Thus, efforts should be made to prevent unnecessary cancellations through careful planning.

scholarly journals Elective Surgical Case Cancellation and Reasons in Ethiopia: A Systematic Review and Meta-Analysis

2020 ◽  
Author(s):  
Yeneabat Birhanu Yohanes ◽  
Aklilu Endalamaw Sinshaw ◽  
Aynalem Adu Ayisa
Keyword(s):  
Systematic Review ◽  
Web Of Science ◽  
Meta Analysis ◽  
Surgical Operation ◽  
Careful Planning ◽  
Or Management ◽  
Surgical Case ◽  
Pooled Prevalence ◽  
Study Participants ◽  
National Prevalence

Abstract Background: Cancellation of elective surgical operation recognized as a major cause of emotional trauma to patients as well as their families. In Ethiopia, prevalence and reasons for elective surgical case cancellation are variable from time to time in different settings. This systematic review and meta-analysis aimed to find the pooled prevalence of elective surgical case cancellation. Besides, it aimed to find reasons for elective surgical case cancellation in Ethiopia.Methods: The databases for the search were Web of Science, PubMed, and Google Scholar by the date 02/08/2020. To assess publication bias Egger's test regression analysis was applied. Results: This meta-analysis included a total of 5 studies with 5591 study participants. The pooled prevalence of elective surgical case cancellation was 21.41% (95% CI: 12.75 to 30.06%).Administration-related (34.50%) was the most common identified reason. Followed by Surgeon (25.29%), Medical (13.90%), and Patient-related reasons (13.34%).Conclusions: The national prevalence of elective surgical case cancellation was considerable. The most common reason for elective surgical case cancellation was administration-related reasons, followed by the surgeon, medical and patient-related reasons. The administrative or management-related reasons for the cancellations are potentially preventable. Thus, efforts should be made to prevent unnecessary cancellations through careful planning.

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