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International Journal of Environmental... Feb 2022Lung cancer (LC) represents the main cause of cancer-related deaths worldwide, especially because the majority of patients present with an advanced stage of the disease... (Review)
Review
Lung cancer (LC) represents the main cause of cancer-related deaths worldwide, especially because the majority of patients present with an advanced stage of the disease at the time of diagnosis. This systematic review describes the evidence behind screening results and the current guidelines available to manage lung nodules. This review was guided by the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines. The following electronic databases were searched: PubMed, EMBASE, and the Web of Science. Five studies were included in the systematic review. The study cohort included 46,364 patients, and, in this case series, LC was detected in 9028 patients. Among the patients with detected LC, 1261 died of lung cancer, 3153 died of other types of cancers and 4614 died of other causes. This systematic review validates the use of CT in LC screening follow-ups, and bids for future integration and implementation of nodule management protocols to improve LC screening, avoid missed cancers and to reduce the number of unnecessary investigations.
Topics: Early Detection of Cancer; Humans; Lung; Lung Neoplasms; Mass Screening; Research
PubMed: 35206646
DOI: 10.3390/ijerph19042460 -
BMJ Global Health Nov 2022Testing and treatment during pregnancy is a well-established and cost-effective prevention strategy, which relies largely on use of rapid diagnostic tests (RDTs). Yet,...
BACKGROUND
Testing and treatment during pregnancy is a well-established and cost-effective prevention strategy, which relies largely on use of rapid diagnostic tests (RDTs). Yet, in many low-income and-middle-income countries, the uptake of RDTs is suboptimal. A qualitative meta-synthesis was conducted to identify the barriers and enablers to use of HIV and syphilis RDTs among pregnant women in low-income and middle-income countries.
METHODS
This review was conducted using PRISMA guidelines. Eligible studies included peer-reviewed publications, which used qualitative methods to explore HIV and syphilis RDT in antenatal care clinics in low-income and middle-income countries. Studies focusing on perspectives of pregnant women, healthcare workers and/or stakeholders were included. We used an inductive approach informed by a modified socioecological model to synthesise the data.
RESULTS
62 manuscripts met the eligibility criteria. For pregnant women, initial acceptance of the RDT and continuation in antenatal care depends on the perception that engaging in testing will be a beneficial experience for their baby and themselves, often influenced by the provision of services that are gender-sensitive, confidential, respectful, flexible and considers their well-being into the future. Local sociocultural beliefs about pregnancy and diseases, awareness of diseases and gender roles in society also influenced RDT acceptability among pregnant women. For healthcare workers, the ability to provide high-quality RDT care required ongoing training, accurate and easy to use tests, support from supervisors and communities, sufficient resources and staffing to provide services, and reliable salary. At the stakeholder level, well-developed guidelines and health system infrastructures were imperative to the delivery of RDT in antenatal clinics.
CONCLUSION
Our findings highlight clear gaps to the provision of sustainable and culturally acceptable maternal HIV and/or syphilis screening using RDTs. In addition, greater attention needs to be paid to community stakeholders in promoting the uptake of RDT in antenatal clinics.
PROSPERO REGISTRATION NUMBER
CRD42018112190.
Topics: Female; Pregnancy; Humans; Syphilis; Prenatal Care; Developing Countries; Pregnancy Complications, Infectious; Mass Screening; HIV Infections
PubMed: 36319030
DOI: 10.1136/bmjgh-2022-009408 -
Clinical Pharmacology and Therapeutics Dec 2022The objective of this study was to evaluate the evidence on cost-effectiveness of pharmacogenetic (PGx)-guided treatment for drugs with Clinical Pharmacogenetics...
The objective of this study was to evaluate the evidence on cost-effectiveness of pharmacogenetic (PGx)-guided treatment for drugs with Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines. A systematic review was conducted using multiple biomedical literature databases from inception to June 2021. Full articles comparing PGx-guided with nonguided treatment were included for data extraction. Quality of Health Economic Studies (QHES) was used to assess robustness of each study (0-100). Data are reported using descriptive statistics. Of 108 studies evaluating 39 drugs, 77 (71%) showed PGx testing was cost-effective (CE) (N = 48) or cost-saving (CS) (N = 29); 21 (20%) were not CE; 10 (9%) were uncertain. Clopidogrel had the most articles (N = 23), of which 22 demonstrated CE or CS, followed by warfarin (N = 16), of which 7 demonstrated CE or CS. Of 26 studies evaluating human leukocyte antigen (HLA) testing for abacavir (N = 8), allopurinol (N = 10), or carbamazepine/phenytoin (N = 8), 15 demonstrated CE or CS. Nine of 11 antidepressant articles demonstrated CE or CS. The median QHES score reflected high-quality studies (91; range 48-100). Most studies evaluating cost-effectiveness favored PGx testing. Limited data exist on cost-effectiveness of preemptive and multigene testing across disease states.
Topics: Humans; Pharmacogenomic Testing; Pharmacogenetics; Cost-Benefit Analysis; Warfarin; Carbamazepine
PubMed: 36149409
DOI: 10.1002/cpt.2754 -
Sleep & Breathing = Schlaf & Atmung Sep 2022The majority of individuals with clinically significant obstructive sleep apnoea (OSA) are undiagnosed and untreated. A simple screening tool may support risk... (Meta-Analysis)
Meta-Analysis
PURPOSE
The majority of individuals with clinically significant obstructive sleep apnoea (OSA) are undiagnosed and untreated. A simple screening tool may support risk stratification, identification, and appropriate management of at-risk patients. Therefore, this systematic review and meta-analysis evaluated and compared the accuracy and clinical utility of existing screening questionnaires for identifying OSA in different clinical cohorts.
METHODS
We conducted a systematic review and meta-analysis of observational studies assessing the diagnostic value of OSA screening questionnaires. We identified prospective studies, validated against polysomnography, and published to December 2020 from online databases. To pool the results, we used random effects bivariate binomial meta-analysis.
RESULTS
We included 38 studies across three clinical cohorts in the meta-analysis. In the sleep clinic cohort, the Berlin questionnaire's pooled sensitivity for apnoea-hypopnoea index (AHI) ≥ 5, ≥ 15, and ≥ 30 was 85%, 84%, and 89%, and pooled specificity was 43%, 30%, and 33%, respectively. The STOP questionnaire's pooled sensitivity for AHI ≥ 5, ≥ 15, and ≥ 30 was 90%, 90%, and 95%, and pooled specificity was 31%, 29%, and 21%. The pooled sensitivity of the STOP-Bang questionnaire for AHI ≥ 5, ≥ 15, and ≥ 30 was 92%, 95%, and 96%, and pooled specificity was 35%, 27%, and 28%. In the surgical cohort (AHI ≥ 15), the Berlin and STOP-Bang questionnaires' pooled sensitivity were 76% and 90% and pooled specificity 47% and 27%.
CONCLUSION
Among the identified questionnaires, the STOP-Bang questionnaire had the highest sensitivity to detect OSA but lacked specificity. Subgroup analysis considering other at-risk populations was not possible. Our observations are limited by the low certainty level in available data.
Topics: Adult; Humans; Mass Screening; Polysomnography; Prospective Studies; Sleep Apnea, Obstructive; Surveys and Questionnaires
PubMed: 34406554
DOI: 10.1007/s11325-021-02450-9 -
British Journal of Sports Medicine Jun 2023Determine the role of fluid-based biomarkers, advanced neuroimaging, genetic testing and emerging technologies in defining and assessing neurobiological recovery after...
OBJECTIVE
Determine the role of fluid-based biomarkers, advanced neuroimaging, genetic testing and emerging technologies in defining and assessing neurobiological recovery after sport-related concussion (SRC).
DESIGN
Systematic review.
DATA SOURCES
Searches of seven databases from 1 January 2001 through 24 March 2022 using keywords and index terms relevant to concussion, sports and neurobiological recovery. Separate reviews were conducted for studies involving neuroimaging, fluid biomarkers, genetic testing and emerging technologies. A standardised method and data extraction tool was used to document the study design, population, methodology and results. Reviewers also rated the risk of bias and quality of each study.
ELIGIBILITY CRITERIA FOR SELECTING STUDIES
Studies were included if they: (1) were published in English; (2) represented original research; (3) involved human research; (4) pertained only to SRC; (5) included data involving neuroimaging (including electrophysiological testing), fluid biomarkers or genetic testing or other advanced technologies used to assess neurobiological recovery after SRC; (6) had a minimum of one data collection point within 6 months post-SRC; and (7) contained a minimum sample size of 10 participants.
RESULTS
A total of 205 studies met inclusion criteria, including 81 neuroimaging, 50 fluid biomarkers, 5 genetic testing, 73 advanced technologies studies (4 studies overlapped two separate domains). Numerous studies have demonstrated the ability of neuroimaging and fluid-based biomarkers to detect the acute effects of concussion and to track neurobiological recovery after injury. Recent studies have also reported on the diagnostic and prognostic performance of emerging technologies in the assessment of SRC. In sum, the available evidence reinforces the theory that physiological recovery may persist beyond clinical recovery after SRC. The potential role of genetic testing remains unclear based on limited research.
CONCLUSIONS
Advanced neuroimaging, fluid-based biomarkers, genetic testing and emerging technologies are valuable research tools for the study of SRC, but there is not sufficient evidence to recommend their use in clinical practice.
PROSPERO REGISTRATION NUMBER
CRD42020164558.
Topics: Humans; Brain Concussion; Biomarkers; Data Collection; Databases, Factual; Genetic Testing
PubMed: 37316184
DOI: 10.1136/bjsports-2022-106680 -
Journal of Assisted Reproduction and... Jun 2023Genetic abnormalities in embryos are responsible for most miscarriages and repeated embryo implantation failures, so a reliable preimplantation genetic screening method... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Genetic abnormalities in embryos are responsible for most miscarriages and repeated embryo implantation failures, so a reliable preimplantation genetic screening method is urgently needed. Non-invasive preimplantation genetic testing (niPGT) is a potential method for embryo genetic diagnosis. However, the value of its application is controversial. This meta-analysis aimed to investigate and validate the diagnostic value of niPGT in patients undergoing in vitro fertilization (IVF).
METHODS
This review used the "Preferred Reporting Items" as a systematic review and meta-analysis of the diagnostic test accuracy (PRISMA-DTA) statement. We searched PubMed, Embase, Web of Science Core Collection, and Cochrane Library up to May 2022 to retrieve non-invasive preimplantation gene detection studies. The eligible research quality was evaluated following the quality assessment study-2 system for diagnostic accuracy. The pooled receiver operator characteristic curve (SROC) and the area under SROC (AUC) were used to evaluate diagnostic performance quantitatively. Threshold effect, subgroup analysis, and meta-regression analysis were used to explore the source of heterogeneity. Deeks' funnel plots and sensitivity analyses were used to test the publication bias and stability of the meta-analysis, respectively.
FINDINGS
Twenty studies met the inclusion criteria. The pooled sensitivity, specificity, and AUC were 0.84 (95% CI 0.72-0.91), 0.85 (95% CI 0.74-0.92), and 0.91 (95% CI 0.88-0.93), respectively. Subgroup analysis showed that the spent culture medium (SCM) subgroup had higher sensitivity and lower specificity than the SCM combined with the blastocoel fluid (BF) subgroup. Subgroup analysis showed that the study sensitivity and specificity of < 100 cases were higher than those of ≥ 100. Heterogeneity (chi-square) analysis revealed that sample size might be a potential source of heterogeneity. Sensitivity analysis and Deeks' funnel plots indicated that our results were relatively robust and free from publication bias.
INTERPRETATION
The present meta-analysis indicated that the pooled sensitivity, specificity, and AUC of niPGT in preimplantation genetic testing were 0.84, 0.85, and 0.91, respectively. niPGT may have high detection accuracy and may serve as an alternative model for embryonic analysis. Additionally, by subgroup analysis, we found that BF did not improve the accuracy of niPGT in embryos. In the future, large-scale studies are needed to determine the detection value of niPGT.
Topics: Humans; Blastocyst; Genetic Testing; Fertilization in Vitro; Sensitivity and Specificity; Culture Media
PubMed: 36952146
DOI: 10.1007/s10815-023-02760-9 -
The Cochrane Database of Systematic... Jun 2020Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. This is a rare...
BACKGROUND
Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. This is a rare and potentially lethal condition that classically presents in the first week of life once milk feeds have commenced. Affected babies may present with any or all of the following: cataracts; fulminant liver failure; prolonged jaundice; or Escherichia coli sepsis. Once the diagnosis is suspected, feeds containing galactose must be stopped immediately and replaced with a soya-based formula. The majority of babies will recover, however a number will not survive. There are long-term complications of galactosaemia, despite treatment, including learning disabilities and female infertility. It has been postulated that galactosaemia could be detected on newborn screening and this would prevent the immediate severe liver dysfunction and sepsis. This is an update of a previously published review.
OBJECTIVES
To assess whether there is evidence that newborn screening for galactosaemia prevents or reduces mortality and morbidity and improves clinical outcomes in affected neonates and the quality of life in older children.
SEARCH METHODS
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register comprising references identified from electronic database searches, handsearches of relevant journals and conference abstract books. We also searched online trials registries and the reference lists of relevant articles and reviews. Date of the most recent search of Cochrane Cystic Fibrosis Group's Trials Register: 12 December 2019. Date of the most recent search of additional resources: 02 February 2020.
SELECTION CRITERIA
Randomised controlled studies and controlled clinical studies, published or unpublished comparing the use of any newborn screening test to diagnose infants with galactosaemia and presenting a comparison between a screened population versus a non-screened population.
DATA COLLECTION AND ANALYSIS
No studies of newborn screening for galactosaemia were found.
MAIN RESULTS
No studies were identified for inclusion in the review.
AUTHORS' CONCLUSIONS
We were unable to identify any eligible studies for inclusion in this review and hence it is not possible to draw any conclusions based on randomised controlled studies. However, we are aware of uncontrolled studies which support the efficacy of newborn screening for galactosaemia. There are a number of reviews and economic analyses of non-trial literature suggesting that screening is appropriate.
Topics: Galactosemias; Humans; Infant, Newborn; Neonatal Screening
PubMed: 32567677
DOI: 10.1002/14651858.CD012272.pub3 -
Expert Review of Molecular Diagnostics Aug 2022Genetic disorders are a major cause of death in critically ill infants. Several studies have assessed the diagnostic yield of rapid genomic sequencing in critically ill... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Genetic disorders are a major cause of death in critically ill infants. Several studies have assessed the diagnostic yield of rapid genomic sequencing in critically ill infants. This meta-analysis aimed to summarize the diagnostic utility of rapid genomic sequencing in critically ill infants.
METHODS
PubMed, Scopus, Web of Science, and Cochrane Library, were searched before 1 July 2022. Studies reported diagnostic rate of rapid genomic sequencing in critically ill infants were selected. Two authors screened and extracted data regarding the method of genetic test, total number of patients, and number of diagnosed patients.
RESULTS
Twenty-three studies, comprising 1567 critically ill infants were included in the meta-analysis. In the overall analysis, the pooled diagnostic utility of rapid genomic sequencing was 0.42 (95% CI: 0.37-0.49, I = 79%, < 0.1). Moreover, the pooled diagnostic rates of rapid whole-exome and rapid whole-genome sequencing were 0.50 (95% CI: 0.41-0.61; I = 74%; P < 0.01) and 0.37 (95% CI: 0.30-0.46; I = 77%; P < 0.01), respectively. Sensitive analysis showed that the results were stable in the overall analysis. Additionally, publication bias was not observed in the overall analysis.
CONCLUSIONS
This meta-analysis proved that rapid genomic sequencing has a good diagnostic utility for critically ill infants.
Topics: Critical Illness; Exome; Genetic Testing; Humans; Infant; Exome Sequencing; Whole Genome Sequencing
PubMed: 36082848
DOI: 10.1080/14737159.2022.2123704 -
Social Science & Medicine (1982) Sep 2021The public should be informed about overtesting and overdiagnosis. Diverse qualitative studies have examined public understandings of this information. A synthesis was... (Review)
Review
RATIONALE
The public should be informed about overtesting and overdiagnosis. Diverse qualitative studies have examined public understandings of this information. A synthesis was needed to systematise the body of evidence and yield new, generalisable insights.
AIM
Synthesise data from qualitative studies exploring patient and public understanding of overtesting and overdiagnosis.
METHODS
We searched Scopus, CINAHL, Ovid MEDLINE and PsycINFO databases from inception to March 18, 2020. We included published English-language primary studies exploring the perspectives of patients/the public about overtesting/overdiagnosis from any setting, year and relating to any condition. Only qualitative parts of mixed-methods studies were synthesised. We excluded studies that only examined overtreatment or sampled people with specialised medical knowledge. Two authors independently selected studies, extracted data, assessed the methodological quality of included studies using the CASP tool, and assessed confidence in the synthesis findings using the GRADE-CERQual approach. Data was analysed using thematic meta-synthesis, utilising descriptive and interpretive methods.
RESULTS
We synthesised data from 21 studies, comprising 1638 participants, from 2754 unique records identified. We identified six descriptive themes, all graded as moderate confidence (indicating they are likely to reasonably represent the available evidence): i) high confidence in screening and testing; ii) difficulty in understanding overuse; iii) acceptance that overuse can be harmful; iv) rejection or problematisation of overuse; v) limited impacts of overuse information on intended test and screening uptake; vi) desire for information and shared decision-making regarding overuse. The descriptive themes were underpinned by two analytic themes: i) perceived intrinsic value of information and information gathering, and; ii) differences in comprehension and acceptance of overuse concepts.
CONCLUSIONS
This study identified novel and important insights about how lay people interpret overuse concepts. It will guide the development of more effective public messages about overuse, highlighting the importance of interpretative frameworks in these communications.
Topics: Communication; Humans; Mass Screening; Medical Overuse; Qualitative Research
PubMed: 34391966
DOI: 10.1016/j.socscimed.2021.114255 -
The Cochrane Database of Systematic... May 2020Hypertension is a major public health challenge affecting more than one billion people worldwide; it disproportionately affects populations in low- and middle-income...
BACKGROUND
Hypertension is a major public health challenge affecting more than one billion people worldwide; it disproportionately affects populations in low- and middle-income countries (LMICs), where health systems are generally weak. The increasing prevalence of hypertension is associated with population growth, ageing, genetic factors, and behavioural risk factors, such as excessive salt and fat consumption, physical inactivity, being overweight and obese, harmful alcohol consumption, and poor management of stress. Over the long term, hypertension leads to risk for cardiovascular events, such as heart disease, stroke, kidney failure, disability, and premature mortality. Cardiovascular events can be preventable when high-risk populations are targeted, for example, through population-wide screening strategies. When available resources are limited, taking a total risk approach whereby several risk factors of hypertension are taken into consideration (e.g. age, gender, lifestyle factors, diabetes, blood cholesterol) can enable more accurate targeting of high-risk groups. Targeting of high-risk groups can help reduce costs in that resources are not spent on the entire population. Early detection in the form of screening for hypertension (and associated risk factors) can help identify high-risk groups, which can result in timely treatment and management of risk factors. Ultimately, early detection can help reduce morbidity and mortality linked to it and can help contain health-related costs, for example, those associated with hospitalisation due to severe illness and poorly managed risk factors and comorbidities.
OBJECTIVES
To assess the effectiveness of different screening strategies for hypertension (mass, targeted, or opportunistic) to reduce morbidity and mortality associated with hypertension.
SEARCH METHODS
An Information Specialist searched the Cochrane Register of Studies (CRS-Web), the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, Embase, Latin American Caribbean Health Sciences Literature (LILACS) Bireme, ClinicalTrials.gov, and the World Health Organization International Clinical Trials Registry Platform (WHO ICTRP) without language, publication year, or publication status restrictions. The searches were conducted from inception until 9 April 2020.
SELECTION CRITERIA
Randomised controlled trials (RCTs) and non-RCTs (NRCTs), that is, controlled before and after (CBA), interrupted time series (ITS), and prospective analytic cohort studies of healthy adolescents, adults, and elderly people participating in mass, targeted, or opportunistic screening of hypertension.
DATA COLLECTION AND ANALYSIS
Screening of all retrieved studies was done in Covidence. A team of reviewers, in pairs, independently assessed titles and abstracts of identified studies and acquired full texts for studies that were potentially eligible. Studies were deemed to be eligible for full-text screening if two review authors agreed, or if consensus was reached through discussion with a third review author. It was planned that at least two review authors would independently extract data from included studies, assess risk of bias using pre-specified Cochrane criteria, and conduct a meta-analysis of sufficiently similar studies or present a narrative synthesis of the results.
MAIN RESULTS
We screened 9335 titles and abstracts. We identified 54 potentially eligible studies for full-text screening. However, no studies met the eligibility criteria.
AUTHORS' CONCLUSIONS
There is an implicit assumption that early detection of hypertension through screening can reduce the burden of morbidity and mortality, but this assumption has not been tested in rigorous research studies. High-quality evidence from RCTs or programmatic evidence from NRCTs on the effectiveness and costs or harms of different screening strategies for hypertension (mass, targeted, or opportunistic) to reduce hypertension-related morbidity and mortality is lacking.
Topics: Early Diagnosis; Humans; Hypertension; Mass Screening
PubMed: 32378196
DOI: 10.1002/14651858.CD013212.pub2