scholarly journals A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy

2021 ◽  
Vol 12 ◽  
Author(s):  
Kun Huang ◽  
Fang-Fang Bi ◽  
Huan Yang
Keyword(s):  
Systematic Review ◽  
Fiber Type ◽  
Pediatric Population ◽  
Meta Analysis ◽  
Nemaline Myopathy ◽  
Congenital Myopathy ◽  
Orphan Diseases ◽  
Congenital Myopathies ◽  
Prevalence Estimates ◽  
Core Myopathy

Background: Congenital myopathy constitutes a heterogeneous group of orphan diseases that are mainly classified on the basis of muscle biopsy findings. This study aims to estimate the prevalence of congenital myopathy through a systematic review and meta-analysis of the literature.Methods: The PubMed, MEDLINE, Web of Science, and Cochrane Library databases were searched for original research articles published in English prior to July 30, 2021. The quality of the included studies was assessed by a checklist adapted from STrengthening the Reporting of OBservational studies in Epidemiology (STROBE). To derive the pooled epidemiological prevalence estimates, a meta-analysis was performed using the random effects model. Heterogeneity was assessed using the Cochrane Q statistic as well as the I2 statistic.Results: A total of 11 studies were included in the systematic review and meta-analysis. Of the 11 studies included, 10 (90.9%) were considered medium-quality, one (9.1%) was considered low-quality, and no study was assessed as having a high overall quality. The pooled prevalence of congenital myopathy in the all-age population was 1.50 (95% CI, 0.93–2.06) per 100,000, while the prevalence in the child population was 2.73 (95% CI, 1.34–4.12) per 100,000. In the pediatric population, the prevalence among males was 2.92 (95% CI, −1.70 to 7.55) per 100,000, while the prevalence among females was 2.47 (95% CI, −1.67 to 6.61) per 100,000. The prevalence estimates of the all-age population per 100,000 were 0.20 (95% CI 0.10–0.35) for nemaline myopathy, 0.37 (95% CI 0.21–0.53) for core myopathy, 0.08 (95% CI −0.01 to 0.18) for centronuclear myopathy, 0.23 (95% CI 0.04–0.42) for congenital fiber-type disproportion myopathy, and 0.34 (95% CI, 0.24–0.44) for unspecified congenital myopathies. In addition, the prevalence estimates of the pediatric population per 100,000 were 0.22 (95% CI 0.03–0.40) for nemaline myopathy, 0.46 (95% CI 0.03–0.90) for core myopathy, 0.44 (95% CI 0.03–0.84) for centronuclear myopathy, 0.25 (95% CI −0.05 to 0.54) for congenital fiber-type disproportion myopathy, and 2.63 (95% CI 1.64–3.62) for unspecified congenital myopathies.Conclusions: Accurate estimates of the prevalence of congenital myopathy are fundamental to supporting public health decision-making. The high heterogeneity and the lack of high-quality studies highlight the need to conduct higher-quality studies on orphan diseases.

NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material

2021 ◽  
Vol 80 (4) ◽  
pp. 366-376
Author(s):  
Karlijn Bouman ◽  
Benno Küsters ◽  
Josine M De Winter ◽  
Cynthia Gillet ◽  
Esmee S B Van Kleef ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Light Microscopy ◽  
Clinical Phenotype ◽  
Fiber Type ◽  
Muscle Relaxation ◽  
Nemaline Myopathy ◽  
Congenital Myopathy ◽  
Thin Filaments ◽  
Core Myopathy

AbstractNemaline myopathy type 6 (NEM6), KBTBD13-related congenital myopathy is caused by mutated KBTBD13 protein that interacts improperly with thin filaments/actin, provoking impaired muscle-relaxation kinetics. We describe muscle morphology in 18 Dutch NEM6 patients and correlate it with clinical phenotype and pathophysiological mechanisms. Rods were found in in 85% of biopsies by light microscopy, and 89% by electron microscopy. A peculiar ring disposition of rods resulting in ring-rods fiber was observed. Cores were found in 79% of NEM6 biopsies by light microscopy, and 83% by electron microscopy. Electron microscopy also disclosed granulofilamentous protein material in 9 biopsies. Fiber type 1 predominance and prominent nuclear internalization were found. Rods were immunoreactive for α-actinin and myotilin. Areas surrounding the rods showed titin overexpression suggesting derangement of the surrounding sarcomeres. NEM6 myopathology hallmarks are prominent cores, rods including ring-rods fibers, nuclear clumps, and granulofilamentous protein material. This material might represent the histopathologic epiphenomenon of altered interaction between mutated KBTBD13 protein and thin filaments. We claim to classify KBTBD13-related congenital myopathy as rod-core myopathy.

scholarly journals Cerebrospinal fluid leakage after cranial surgery in the pediatric population—a systematic review and meta-analysis

2021 ◽  
Author(s):  
Emma M. H. Slot ◽  
Kirsten M. van Baarsen ◽  
Eelco W. Hoving ◽  
Nicolaas P. A. Zuithoff ◽  
Tristan P. C van Doormaal
Keyword(s):  
Risk Factors ◽  
Systematic Review ◽  
Cerebrospinal Fluid ◽  
Pediatric Population ◽  
Meta Analysis ◽  
Leakage Rate ◽  
Csf Leak ◽  
Cerebrospinal Fluid Leakage ◽  
Cranial Surgery ◽  
Csf Leakage

Abstract Background Cerebrospinal fluid (CSF) leakage is a common complication after neurosurgical intervention. It is associated with substantial morbidity and increased healthcare costs. The current systematic review and meta-analysis aim to quantify the incidence of cerebrospinal fluid leakage in the pediatric population and identify its risk factors. Methods The authors followed the PRISMA guidelines. The Embase, PubMed, and Cochrane database were searched for studies reporting CSF leakage after intradural cranial surgery in patients up to 18 years old. Meta-analysis of incidences was performed using a generalized linear mixed model. Results Twenty-six articles were included in this systematic review. Data were retrieved of 2929 patients who underwent a total of 3034 intradural cranial surgeries. Surprisingly, only four of the included articles reported their definition of CSF leakage. The overall CSF leakage rate was 4.4% (95% CI 2.6 to 7.3%). The odds of CSF leakage were significantly greater for craniectomy as opposed to craniotomy (OR 4.7, 95% CI 1.7 to 13.4) and infratentorial as opposed to supratentorial surgery (OR 5.9, 95% CI 1.7 to 20.6). The odds of CSF leakage were significantly lower for duraplasty use versus no duraplasty (OR 0.41 95% CI 0.2 to 0.9). Conclusion The overall CSF leakage rate after intradural cranial surgery in the pediatric population is 4.4%. Risk factors are craniectomy and infratentorial surgery. Duraplasty use is negatively associated with CSF leak. We suggest defining a CSF leak as “leakage of CSF through the skin,” as an unambiguous definition is fundamental for future research.

Attention deficit and hyperactivity disorder and nocturnal enuresis co-occurrence in the pediatric population: a systematic review and meta-analysis

2021 ◽  
Author(s):  
Ana Cecília de Sena Oliveira ◽  
Bruno da Silva Athanasio ◽  
Flávia Cristina de Carvalho Mrad ◽  
Monica Maria de Almeida Vasconcelos ◽  
Maicon Rodrigues Albuquerque ◽  
...  
Keyword(s):  
Systematic Review ◽  
Attention Deficit ◽  
Nocturnal Enuresis ◽  
Pediatric Population ◽  
Meta Analysis ◽  
Hyperactivity Disorder

scholarly journals Long-term manifestations and modifiers of prevalence estimates of the post-COVID-19 syndrome: A systematic review and meta-analysis.

2021 ◽  
Author(s):  
Daniel De-la-Rosa-Martínez ◽  
Marco Antonio Delaye-Martínez ◽  
Omar Yaxmehen Bello-Chavolla ◽  
Alejandro Sicilia-Andrade ◽  
Isaac David Juárez-Cruz ◽  
...  
Keyword(s):  
Systematic Review ◽  
Regression Analysis ◽  
Meta Analysis ◽  
Population Characteristics ◽  
Published Data ◽  
System Disease ◽  
Prevalence Estimates ◽  
Meta Regression ◽  
Meta Regression Analysis

Background: Post-acute COVID-19 syndrome (PACS) is a multi-system disease comprising persistent symptomatology after the acute phase of infection. Long-term PACS effects significantly impact patient outcomes, but their incidence remains uncharacterized due to high heterogeneity between studies. Therefore, we aimed to summarize published data on PACS, characterizing the clinical presentation, prevalence, and modifiers of prevalence estimates. Method: In this systematic review and meta-analysis, we research MEDLINE for original studies published from January 1st, 2020, to January 31st, 2021, that reported proportions of PACS manifestations. Studies were eligible for inclusion if they included patients aged ≥18 years with confirmed COVID-19 by RT-PCR or antigen testing and a minimum follow-up of 21 days. The prevalence of individual manifestations across studies was pooled using random-effects meta-analysis. For evaluating determinants of heterogeneity, meta-regression analysis was performed. This study was registered in PROSPERO (CRD42019125025). Results: After screening 1,235 studies, we included 29 reports for analysis. Twenty-seven meta-analyses were performed, and 61 long-term manifestations were described. The pooled prevalence of PACS was 56% (95%CI 45-66%), with the most common manifestations being diminished health status, fatigue, asthenia, dyspnea, myalgias, hyposmia and dysgeusia. Most of the included studies presented high heterogeneity. After conducting the meta-regression analysis, we identified that age, gender, number of comorbidities, and reported symptoms significantly modify the prevalence estimation of PACS long-term manifestations. Conclusion: PACS is inconsistently reported between studies, and population characteristics influence the prevalence estimates due to high heterogeneity. A systematized approach for the study of PACS is needed to characterize its impact adequately.

scholarly journals Prevalence of Mycoplasma genitalium in different population groups: systematic review andmeta-analysis

2018 ◽  
Vol 94 (4) ◽  
pp. 255-262 ◽  
Author(s):  
Lukas Baumann ◽  
Manuel Cina ◽  
Dianne Egli-Gany ◽  
Myrofora Goutaki ◽  
Florian S Halbeisen ◽  
...  
Keyword(s):  
Systematic Review ◽  
General Population ◽  
Pregnant Women ◽  
Sex Workers ◽  
Meta Analysis ◽  
Mycoplasma Genitalium ◽  
Asymptomatic Patients ◽  
Prevalence Estimates ◽  
Study Heterogeneity ◽  
Sex With Men

BackgroundMycoplasma genitalium is a common cause of non-gonococcal non-chlamydial urethritis and cervicitis. Testing of asymptomatic populations has been proposed, but prevalence in asymptomatic populations is not well established. We aimed to estimate the prevalence of M. genitalium in the general population, pregnant women, men who have sex with men (MSM), commercial sex workers (CSWs) and clinic-based samples,MethodsWe searched Embase, Medline, IndMED, African Index Medicus and LILACS from 1 January 1991 to 12 July 2016 without language restrictions. We included studies with 500 participants or more. Two reviewers independently screened and selected studies and extracted data. We examined forest plots and conducted random-effects meta-analysis to estimate prevalence, if appropriate. Between-study heterogeneity was examined using the I2 statistic and meta-regression.ResultsOf 3316 screened records, 63 were included. In randomly selected samples from the general population, the summary prevalence was 1.3% (95% CI 1.0% to 1.8%, I2 41.5%, three studies, 9091 people) in countries with higher levels of development and 3.9% (95% CI 2.2 to 6.7, I2 89.2%, three studies, 3809 people) in countries with lower levels. Prevalence was similar in women and men (P=0.47). In clinic based samples, prevalence estimates were higher, except in asymptomatic patients (0.8%, 95% CI 0.4 to 1.4, I2 0.0%, three studies, 2889 people). Summary prevalence estimates were, in the following groups: pregnant women 0.9% (95% CI 0.6% to 1.4%, I2 0%, four studies, 3472 people), MSM in the community 3.2% (95% CI 2.1 to 5.1, I2 78.3%, five studies, 3012 people) and female CSWs in the community 15.9% (95% CI 13.5 to 18.9, I2 79.9%, four studies, 4006 people).DiscussionThis systematic review can inform testing guidelines for M. genitalium. The low estimated prevalence of M. genitalium in the general population, pregnant women and asymptomatic attenders at clinics does not support expansion of testing to these groups.Registration numbersPROSPERO: CRD42015020420

Risk factors for developing acute compartment syndrome in the pediatric population: a systematic review and meta-analysis

2020 ◽  
Vol 30 (5) ◽  
pp. 839-844
Author(s):  
Sharri J. Mortensen ◽  
Sebastian Orman ◽  
Edward J. Testa ◽  
Amin Mohamadi ◽  
Ara Nazarian ◽  
...  
Keyword(s):  
Risk Factors ◽  
Systematic Review ◽  
Compartment Syndrome ◽  
Pediatric Population ◽  
Meta Analysis ◽  
Acute Compartment Syndrome

scholarly journals Standardisation of lymphatic filariasis microfilaraemia prevalence estimates based on different diagnostic methods: a systematic review and meta-analysis

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Natalie V. S. Vinkeles Melchers ◽  
Luc E. Coffeng ◽  
Sake J. de Vlas ◽  
Wilma A. Stolk
Keyword(s):  
Systematic Review ◽  
Lymphatic Filariasis ◽  
Membrane Filtration ◽  
Meta Analysis ◽  
Diagnostic Technique ◽  
Diagnostic Techniques ◽  
Diagnostic Methods ◽  
Prevalence Estimates ◽  
Study Population ◽  
Meta Analyses

Abstract Background Lymphatic filariasis (LF) infection is generally diagnosed through parasitological identification of microfilariae (mf) in the blood. Although historically the most commonly used technique for counting mf is the thick blood smear based on 20 µl blood (TBS20), various other techniques and blood volumes have been applied. It is therefore a challenge to compare mf prevalence estimates from different LF-survey data. Our objective was to standardise microfilaraemia (mf) prevalence estimates to TBS20 as the reference diagnostic technique. Methods We first performed a systematic review to identify studies reporting on comparative mf prevalence data as measured by more than one diagnostic test, including TBS20, on the same study population. Associations between mf prevalences based on different diagnostic techniques were quantified in terms of odds ratios (OR, with TBS20 blood as reference), using a meta-regression model. Results We identified 606 articles matching our search strategy and included 14 in our analyses. The OR of the mf prevalences as measured by the more sensitive counting chamber technique (≥ 50 µl blood) was 2.90 (95% confidence interval (CI): 1.60–5.28). For membrane filtration (1 ml blood) the OR was 2.39 (95% CI: 1.62–3.53), Knott’s technique it was 1.54 (95% CI: 0.72–3.29), and for TBS in ≥ 40 µl blood it was 1.37 (95% CI: 0.81–2.30). Conclusions We provided transformation factors to standardise mf prevalence estimates as detected by different diagnostic techniques to mf prevalence estimates as measured by TBS20. This will facilitate the use and comparison of more datasets in meta-analyses and geographic mapping initiatives across countries and over time.

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