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Journal of Hepatology Sep 2020There are uncertainties about the epidemic patterns of HDV infection and its contribution to the burden of liver disease. We estimated the global prevalence of HDV... (Meta-Analysis)
Meta-Analysis
BACKGROUND AND AIMS
There are uncertainties about the epidemic patterns of HDV infection and its contribution to the burden of liver disease. We estimated the global prevalence of HDV infection and explored its contribution to the development of cirrhosis and hepatocellular carcinoma (HCC) among HBsAg-positive people.
METHODS
We searched Pubmed, EMBASE and Scopus for studies reporting on total or IgG anti-HDV among HBsAg-positive people. Anti-HDV prevalence was estimated using a binomial mixed model, weighting for study quality and population size. The population attributable fraction (PAF) of HDV to cirrhosis and HCC among HBsAg-positive people was estimated using random effects models.
RESULTS
We included 282 studies, comprising 376 population samples from 95 countries, which together tested 120,293 HBsAg-positive people for anti-HDV. The estimated anti-HDV prevalence was 4.5% (95% CI 3.6-5.7) among all HBsAg-positive people and 16.4% (14.6-18.6) among those attending hepatology clinics. Worldwide, 0.16% (0.11-0.25) of the general population, totalling 12.0 (8.7-18.7) million people, were estimated to be anti-HDV positive. Prevalence among HBsAg-positive people was highest in Mongolia, the Republic of Moldova and countries in Western and Middle Africa, and was higher in injecting drug users, haemodialysis recipients, men who have sex with men, commercial sex workers, and those with HCV or HIV. Among HBsAg-positive people, preliminary PAF estimates of HDV were 18% (10-26) for cirrhosis and 20% (8-33) for HCC.
CONCLUSIONS
An estimated 12 million people worldwide have experienced HDV infection, with higher prevalence in certain geographic areas and populations. HDV is a significant contributor to HBV-associated liver disease. More quality data are needed to improve the precision of burden estimates.
LAY SUMMARY
We combined all available studies to estimate how many people with hepatitis B also have hepatitis D, a viral infection that only affects people with hepatitis B. About 1 in 22 people with hepatitis B also have hepatitis D, increasing to 1 in 6 when considering people with liver disease. Hepatitis D may cause about 1 in 6 of the cases of cirrhosis and 1 in 5 of the cases of liver cancer that occur in people with hepatitis B. Hepatitis D is an important contributor to the global burden of liver disease.
Topics: Adult; Carcinoma, Hepatocellular; Coinfection; Female; Genotype; Hepatitis Antibodies; Hepatitis B; Hepatitis B Surface Antigens; Hepatitis B virus; Hepatitis D; Hepatitis Delta Virus; Homosexuality, Male; Humans; Immunoglobulin G; Liver Cirrhosis; Liver Neoplasms; Male; Prevalence; RNA, Viral; Renal Dialysis; Sex Workers; Sexual and Gender Minorities; Substance Abuse, Intravenous
PubMed: 32335166
DOI: 10.1016/j.jhep.2020.04.008 -
Pediatrics Sep 2014Global developmental delay and intellectual disability are relatively common pediatric conditions. This report describes the recommended clinical genetics diagnostic... (Review)
Review
Global developmental delay and intellectual disability are relatively common pediatric conditions. This report describes the recommended clinical genetics diagnostic approach. The report is based on a review of published reports, most consisting of medium to large case series of diagnostic tests used, and the proportion of those that led to a diagnosis in such patients. Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere tests for the child with intellectual disability of unknown etiology. Fragile X testing remains an important first-line test. The importance of considering testing for inborn errors of metabolism in this population is supported by a recent systematic review of the literature and several case series recently published. The role of brain MRI remains important in certain patients. There is also a discussion of the emerging literature on the use of whole-exome sequencing as a diagnostic test in this population. Finally, the importance of intentional comanagement among families, the medical home, and the clinical genetics specialty clinic is discussed.
Topics: Developmental Disabilities; Disability Evaluation; Female; Humans; Intellectual Disability; Karyotyping; Male
PubMed: 25157020
DOI: 10.1542/peds.2014-1839 -
The Lancet. Gastroenterology &... Oct 2017Studies have shown wide variation in the prevalence of lactose malabsorption across the world, but no systematic reviews or meta-analyses have recently assessed the... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Studies have shown wide variation in the prevalence of lactose malabsorption across the world, but no systematic reviews or meta-analyses have recently assessed the prevalence of lactose malabsorption in different geographical areas. We aimed to present an updated systematic review and meta-analysis on the prevalence of lactose malabsorption in adults, by countries and regions, and to assess the variation between different testing methods.
METHODS
Studies reporting on prevalence of lactose malabsorption and lactase persistence were identified by searching MEDLINE and Embase from database inception to Nov 2, 2016. We evaluated studies presenting lactose malabsorption or lactase persistence prevalence data in adults and children aged 10 years or older, including cross-sectional and prospective studies, using genotyping, hydrogen breath tests, lactose tolerance tests, and other testing methods. We excluded studies in children younger than 10 years, studies using self-reported data, and studies including inpatients and outpatients at gastroenterological wards. Studies were screened by two authors (CLS and SKF) and data values were extracted by two authors (CLS and SKF) independently. The primary outcome was the prevalence of lactose malabsorption. This study is registered with PROSPERO, number CRD42017064802.
FINDINGS
We screened 2665 records, and 306 study populations from 116 full-text articles were included (primary sources); data for 144 additional study populations from 59 articles were obtained from review articles, because full-text primary articles could not be obtained (secondary sources). Of the 450 study populations included, 231 were assessed by genotyping, 83 by hydrogen breath tests, 101 by lactose tolerance tests, and 35 by other methods or methods that were not described sufficiently. The studies included 62 910 participants from 89 countries (covering 84% of the world's population). When standardising for country size, the global prevalence estimate of lactose malabsorption was 68% (95% CI 64-72), ranging from 28% (19-37) in western, southern, and northern Europe to 70% (57-83) in the Middle East. When assessing the global prevalence using genotyping data only, the estimate was 74% (69-80), whereas prevalence was 55% (46-65) using lactose tolerance test data, and 57% (46-67) using hydrogen breath test data. Risk of bias was assessed based on ten indicators; 12 of the articles had a score of ten, indicating low risk of bias, 76 had a score of nine, 26 a score of eight, and two articles a score of seven (indicating higher risk of bias). There was substantial heterogeneity between studies within most of the assessed countries.
INTERPRETATION
Lactose malabsorption is widespread in most of the world, with wide variation between different regions and an overall frequency of around two-thirds of the world's population. Acknowledging regional patterns of lactose malabsorption is important to guide management of gastrointestinal symptoms.
FUNDING
None.
Topics: Adult; Breath Tests; Genotype; Global Burden of Disease; Humans; Lactose Intolerance; Lactose Tolerance Test; Prevalence
PubMed: 28690131
DOI: 10.1016/S2468-1253(17)30154-1 -
Neurotoxicology Jul 2017A systematic review was conducted to identify risk factors associated with the onset and progression of Alzheimer's disease (AD). Moderate and high quality systematic... (Meta-Analysis)
Meta-Analysis Review
A systematic review was conducted to identify risk factors associated with the onset and progression of Alzheimer's disease (AD). Moderate and high quality systematic reviews were eligible for inclusion. Primary studies reporting on non-genetic risk factors associated with neuropathologically or clinically confirmed AD were considered. Eighty one systematic reviews reporting on AD onset and 12 reporting on progression satisfied the eligibility criteria. Four hundred and thirty-two relevant primary studies reporting on onset were identified; however, only those published between 2010 and 2012 (n=65) were included in the qualitative synthesis. Several factors including statins, light-to-moderate alcohol consumption, compliance with a Mediterranean diet, higher educational attainment, physically and cognitively stimulating activities, and APOE ε2 appeared to be associated with a decreased risk of AD onset. The evidence was suggestive of an increased risk of AD associated with head injury in males, age, diabetes mellitus, conjugated equine estrogen use with medroxyprogesterone acetate, current smoking, and lower social engagement. With respect to genetic factors, APOE ε4 remained the strongest predictor of AD. Physical and cognitive activities were associated with a beneficial effect on cognitive function and other indicators of dementia progression while higher educational attainment was associated with faster cognitive decline. Although suggestive of an association, the current evidence for a majority of the identified putative factors for AD onset and progression was weak, at best due to conflicting findings across studies or inadequate evidence. Further research is required to confirm the etiological or protective role of a number of risk factors.
Topics: Age of Onset; Alzheimer Disease; Apolipoprotein E4; Disease Progression; Humans; Risk Factors
PubMed: 28363508
DOI: 10.1016/j.neuro.2017.03.006 -
PloS One 2020Currently, various tools exist to evaluate knowledge and awareness of antibiotic use and antimicrobial resistance (AMR) and are applied by various organizations....
BACKGROUND
Currently, various tools exist to evaluate knowledge and awareness of antibiotic use and antimicrobial resistance (AMR) and are applied by various organizations. Previous systematic reviews have focused mainly on study findings such as levels of knowledge and AMR awareness. However, the survey procedures and data instruments used ought to be scrutinized as well, since they are important contributors to credible results. This review aims to assess the study methods and procedures of existing population-based surveys and explore key components which determine the general population's levels of knowledge and awareness of antibiotic use and AMR.
METHODS
We searched existing literature for population -based surveys which sought knowledge and awareness of antibiotic use or AMR in the general population. Databases searched included Ovid, MEDLINE and EMBASE, PsycINFO and Scopus, domestic journals and gray literature sources. Population-based cross-sectional studies published in English or Thai from January 2000 to December 2018 were included in the review. Quality assessment was conducted using the 'Appraisal Tool for Cross-Sectional Studies' (AXIS).
RESULTS
All 22 studies included in the analysis had clear objectives focusing on assessing people's levels of knowledge, awareness, attitudes and behavior relating to antibiotic use and awareness of AMR. These studies had employed appropriate methodologies for population-based cross-sectional surveys relative to research questions. More than half of studies (14 out of 22) had scientifically soundly designed methodologies which captured the representativeness of the population; whereas the remaining studies had unclear sample size estimations, inappropriate sample frames and selection biases. Half of the studies had tested the validity and reliability of the questionnaire. The common questions used by these surveys were categorized into four themes: behavior related to antibiotic use, knowledge and awareness of antibiotic use, knowledge and awareness of AMR and others such as receiving information about antibiotic use and AMR or cross-cutting issues like self-medication.
CONCLUSION
This review identified four key features of good practices in antibiotic use and awareness surveys: a) clear survey objective; b) scientifically sound sampling techniques ensuring representativeness; c) strategies for recruitment of samples and survey administration methods; and d) credible measurement to prevent non-sampling biases. During questionnaire design, the health systems context in terms of access to health services and antibiotics should be taken into account. In conclusion, to maximize the use of surveys, the application of findings in surveys and associated factors related to antibiotic use and AMR should primarily generate public health interventions and target specific groups to make progress in solving AMR problems.
Topics: Anti-Bacterial Agents; Awareness; Bacterial Infections; Databases, Factual; Drug Resistance, Bacterial; Drug Resistance, Microbial; Health Knowledge, Attitudes, Practice; Humans; Surveys and Questionnaires; Thailand
PubMed: 31945117
DOI: 10.1371/journal.pone.0227973 -
Archives of Gynecology and Obstetrics Apr 2020BRCA mutation carriers have an increased risk of developing breast or ovarian cancer. Oral contraception (OC) is known to increase breast cancer and reduce ovarian... (Review)
Review
PURPOSE
BRCA mutation carriers have an increased risk of developing breast or ovarian cancer. Oral contraception (OC) is known to increase breast cancer and reduce ovarian cancer risk in the general population. This review analyses the published data on OC and risk of cancer in BRCA mutation carriers.
METHODS
We included all relevant articles published in English from 1995 to 2018. Literature was identified through a search on PubMed and Cochrane Library.
RESULTS
We included four meta-analyses, one review, one case-control study and one retrospective cohort study on the association between ovarian cancer and OC in BRCA mutation carriers. All report a risk reduction for the OC users and several also describe an inverse correlation with duration of use. Regarding breast cancer, we included four meta-analyses, one review, one case-control study, two case-only studies, one prospective and one retrospective cohort study. Some studies report a risk elevation, while others did not find an association between OC use and breast cancer in BRCA mutation carriers. In other studies, the association was limited to early-onset breast cancer and/or associated with young age at first start of OC.
CONCLUSION
Oral contraception leads to a risk reduction of ovarian cancer also in BRCA mutation carriers. An increase in breast cancer risk due to OC cannot be excluded. Women with BRCA mutation who consider OC use have to be informed about possible increase in breast cancer risk and alternative contraceptive methods. OC should not be used for the prevention of ovarian cancer in this population.
Topics: Adult; Breast Neoplasms; Case-Control Studies; Contraceptives, Oral; Female; Humans; Mutation; Ovarian Neoplasms; Prospective Studies; Retrospective Studies
PubMed: 32140806
DOI: 10.1007/s00404-020-05458-w -
BMJ (Clinical Research Ed.) Sep 2021To identify and assess the quality and accuracy of prognostic models for nephropathy and to validate these models in external cohorts of people with type 2 diabetes.
OBJECTIVES
To identify and assess the quality and accuracy of prognostic models for nephropathy and to validate these models in external cohorts of people with type 2 diabetes.
DESIGN
Systematic review and external validation.
DATA SOURCES
PubMed and Embase.
ELIGIBILITY CRITERIA
Studies describing the development of a model to predict the risk of nephropathy, applicable to people with type 2 diabetes.
METHODS
Screening, data extraction, and risk of bias assessment were done in duplicate. Eligible models were externally validated in the Hoorn Diabetes Care System (DCS) cohort (n=11 450) for the same outcomes for which they were developed. Risks of nephropathy were calculated and compared with observed risk over 2, 5, and 10 years of follow-up. Model performance was assessed based on intercept adjusted calibration and discrimination (Harrell's C statistic).
RESULTS
41 studies included in the systematic review reported 64 models, 46 of which were developed in a population with diabetes and 18 in the general population including diabetes as a predictor. The predicted outcomes included albuminuria, diabetic kidney disease, chronic kidney disease (general population), and end stage renal disease. The reported apparent discrimination of the 46 models varied considerably across the different predicted outcomes, from 0.60 (95% confidence interval 0.56 to 0.64) to 0.99 (not available) for the models developed in a diabetes population and from 0.59 (not available) to 0.96 (0.95 to 0.97) for the models developed in the general population. Calibration was reported in 31 of the 41 studies, and the models were generally well calibrated. 21 of the 64 retrieved models were externally validated in the Hoorn DCS cohort for predicting risk of albuminuria, diabetic kidney disease, and chronic kidney disease, with considerable variation in performance across prediction horizons and models. For all three outcomes, however, at least two models had C statistics >0.8, indicating excellent discrimination. In a secondary external validation in GoDARTS (Genetics of Diabetes Audit and Research in Tayside Scotland), models developed for diabetic kidney disease outperformed those for chronic kidney disease. Models were generally well calibrated across all three prediction horizons.
CONCLUSIONS
This study identified multiple prediction models to predict albuminuria, diabetic kidney disease, chronic kidney disease, and end stage renal disease. In the external validation, discrimination and calibration for albuminuria, diabetic kidney disease, and chronic kidney disease varied considerably across prediction horizons and models. For each outcome, however, specific models showed good discrimination and calibration across the three prediction horizons, with clinically accessible predictors, making them applicable in a clinical setting.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO CRD42020192831.
Topics: Aged; Albuminuria; Calibration; Clinical Decision Rules; Diabetes Mellitus, Type 2; Diabetic Nephropathies; Female; Humans; Kidney Failure, Chronic; Male; Middle Aged; Predictive Value of Tests; Prognosis; Renal Insufficiency, Chronic; Reproducibility of Results; Risk Assessment; Risk Factors
PubMed: 34583929
DOI: 10.1136/bmj.n2134 -
Journal of the American College of... May 2020Despite the greater prevalence of familial hypercholesterolemia (FH) in subjects with ischemic heart disease (IHD), premature IHD, and severe hypercholesterolemia... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Despite the greater prevalence of familial hypercholesterolemia (FH) in subjects with ischemic heart disease (IHD), premature IHD, and severe hypercholesterolemia (low-density lipoprotein ≥190 mg/dl), overall prevalence estimates are not available.
OBJECTIVES
The aim of this study was to provide worldwide estimates of FH prevalence in subjects with IHD, premature IHD, and severe hypercholesterolemia compared with those in the general population.
METHODS
In this systematic review and meta-analyses, Embase, PubMed, and the Web of Science were searched until June 3, 2019, for peer-reviewed papers and conference abstracts reporting heterozygous FH prevalence in nonfounder populations, revealing 104 studies eligible for inclusion.
RESULTS
Estimates of FH prevalence were pooled using random-effects meta-analyses and were 0.32% (95% confidence interval [CI]: 0.26% to 0.39% [corresponding to 1:313]) among 10,921,310 unique subjects in the general population (33,036 patients with FH) on the basis of 44 studies, 3.2% (95% CI: 2.2% to 4.3% [1:31]) among 84,479 unique subjects with IHD (2,103 patients with FH) on the basis of 28 studies, 6.7% (95% CI: 4.9% to 8.7% [1:15]) among 31,316 unique subjects with premature IHD (1,471 patients with FH) on the basis of 32 studies, and 7.2% (95% CI: 4.6% to 10.8% [1:14]) among 17,728 unique subjects with severe hypercholesterolemia (920 patients with FH) on the basis of 7 studies. FH prevalence in the general population was similar using genetic versus clinical diagnoses. Seventeen of 195 countries (9%) in the world have reported FH prevalence for the general population, leaving 178 (91%) countries in the world with unknown prevalence.
CONCLUSIONS
Compared with 1:313 among subjects in the general population, FH prevalence is 10-fold higher among those with IHD, 20-fold higher among those with premature IHD, and 23-fold higher among those with severe hypercholesterolemia. The prevalence of FH is unknown in 90% of countries in the world.
Topics: Ethnicity; Global Health; Heterozygote; Homozygote; Humans; Hyperlipoproteinemia Type II; Lipoproteins, LDL; Myocardial Ischemia; Prevalence
PubMed: 32439005
DOI: 10.1016/j.jacc.2020.03.057 -
Journal of Cancer Research and Clinical... Jul 2021BRCA mutation carriers have an increased risk of developing breast or ovarian cancer. Risk-reducing bilateral salpingo-oophorectomy (RRBSO) is associated with a decrease...
PURPOSE
BRCA mutation carriers have an increased risk of developing breast or ovarian cancer. Risk-reducing bilateral salpingo-oophorectomy (RRBSO) is associated with a decrease in risk for tubal and ovarian cancer. Hormone replacement therapy (HRT) may increase breast, ovarian, and endometrial cancer risk in the general population. This review analyses the published data on HRT and risk of cancer in BRCA mutation carriers with and without RRBSO.
METHODS
We included all relevant articles published in English from 1995 to October 2020. Sources were identified through a search on PubMed and Cochrane Library.
RESULTS
We included one case-control and one retrospective cohort study on ovarian and one case-control study on endometrial cancer risk and HRT in BRCA mutation carriers. Regarding breast cancer risk, one case-control study on BRCA mutation carriers with and without RRBSO and one case-control study, one Markov chain decision model, two prospective cohort studies, and one metaanalysis on carriers after RRBSO were included. For ovarian cancer, results were ambiguous. For breast cancer, most studies did not find an adverse effect associated with HRT. However, some of the studies found a risk modification associated with different formulations and duration of use.
CONCLUSION
Although data are limited, HRT does not seem to have a relevant effect on cancer risk in BRCA mutation carriers. RRBSO should not be postponed to avoid subsequent HRT in this population. Adequate HRT after RRBSO should be offered to avoid chronic diseases resulting from low estrogen levels. However, further data on the safety of different formulations are needed.
Topics: BRCA1 Protein; BRCA2 Protein; Breast Neoplasms; Endometrial Neoplasms; Female; Genetic Predisposition to Disease; Heterozygote; Hormone Replacement Therapy; Humans; Mutation; Ovarian Neoplasms
PubMed: 33885953
DOI: 10.1007/s00432-021-03629-z -
Pharmacogenomics Mar 2022Pharmacogenomics (PGx) is a rising scientific area in many countries, such as Brazil. To identify biomarkers, therapeutic areas, probe drugs and regions/ethnicities... (Review)
Review
Pharmacogenomics (PGx) is a rising scientific area in many countries, such as Brazil. To identify biomarkers, therapeutic areas, probe drugs and regions/ethnicities most studied in the country in order to guide future studies. Systematic review of 1060 studies (from 1968 to 2020) comprising 80 genes, six probe drugs and 3,819,233 individuals. and were the most studied genes and metoprolol and dextromethorphan the most studied probe drugs. Oncology was the most studied therapeutic area considering PGx biomarkers. The country's regions and ethnic groups were studied unevenly, with south/southeast and White people over-represented in respect to their demographic relevance, in detriment of the center-west/northeast/north and Black/mixed individuals. Many of the gaps and possible paths to be covered to reach even PGx data are pointed out by this review.
Topics: Brazil; Ethnicity; HLA-B Antigens; Humans; Medical Oncology; Pharmacogenetics
PubMed: 35187980
DOI: 10.2217/pgs-2021-0128