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Clinics (Sao Paulo, Brazil) 2024Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder, with main manifestations related to communication, social interaction, and behavioral... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder, with main manifestations related to communication, social interaction, and behavioral patterns. The slight dynamics of change in the child over time require that the onset of clinical manifestations presented by the child be more valued, with the aim of stabilizing the condition. Faced with a variety of methods for diagnosing ASD, the question arises as to which method should be used. This systematic review aims to recommend the best tools to perform screening and diagnosis.
METHODOLOGY
This systematic review followed the PRISMA guidelines. The databases MEDLINE, Embase, CENTRAL (Cochrane), and Lilacs were accessed, and gray and manual searches were performed. The search strategy was created with terms referring to autism and the diagnosis/broad filter. The studies were qualitatively evaluated and quantitatively. Statistical analysis was performed using Meta-diSc-2.0 software, the confidence interval was 95 %.
RESULTS
The M-CHAT-R/F tool demonstrated a sensitivity of 78 % (95 % CI 0.57‒0.91) and specificity of 0.98 (95 % CI 0.88-1.00). The diagnostic tools demonstrated sensitivity and specificity respectively of: ADOS, sensitivity of 87 % (95 % CI 0.79‒0.92) and specificity 75 % (95 % CI 0.73‒0.78); ADI-R demonstrated test sensitivity of 77 % (95 % CI 0.56‒0.90) and specificity 68 % (95 % CI 0.52‒0.81), CARS test sensitivity was 89 % (95 % CI 0.78‒0.95) and specificity 79 % (95 % CI 0.65‒0.88).
CONCLUSION
It is mandatory to apply a screening test, the most recommended being the M-CHAT-R/F. For diagnosis CARS and ADOS are the most recommended tools.
Topics: Child; Humans; Autism Spectrum Disorder; Sensitivity and Specificity; Mass Screening; Communication; Research Design
PubMed: 38484581
DOI: 10.1016/j.clinsp.2023.100323 -
BMJ Open Apr 2022As part of the PIONEER Consortium objectives, we have explored which diagnostic and prognostic factors (DPFs) are available in relation to our previously defined...
OBJECTIVES
As part of the PIONEER Consortium objectives, we have explored which diagnostic and prognostic factors (DPFs) are available in relation to our previously defined clinician and patient-reported outcomes for prostate cancer (PCa).
DESIGN
We performed a systematic review to identify validated and non-validated studies.
DATA SOURCES
MEDLINE, Embase and the Cochrane Library were searched on 21 January 2020.
ELIGIBILITY CRITERIA
Only quantitative studies were included. Single studies with fewer than 50 participants, published before 2014 and looking at outcomes which are not prioritised in the PIONEER core outcome set were excluded.
DATA EXTRACTION AND SYNTHESIS
After initial screening, we extracted data following the Checklist for Critical Appraisal and Data Extraction for Systematic Reviews of prognostic factor studies (CHARMS-PF) criteria and discussed the identified factors with a multidisciplinary expert group. The quality of the included papers was scored for applicability and risk of bias using validated tools such as PROBAST, Quality in Prognostic Studies and Quality Assessment of Diagnostic Accuracy Studies 2.
RESULTS
The search identified 6604 studies, from which 489 DPFs were included. Sixty-four of those were internally or externally validated. However, only three studies on diagnostic and seven studies on prognostic factors had a low risk of bias and a low risk concerning applicability.
CONCLUSION
Most of the DPFs identified require additional evaluation and validation in properly designed studies before they can be recommended for use in clinical practice. The PIONEER online search tool for DPFs for PCa will enable researchers to understand the quality of the current research and help them design future studies.
ETHICS AND DISSEMINATION
There are no ethical implications.
Topics: Bias; Humans; Male; Mass Screening; Prognosis; Prostatic Neoplasms
PubMed: 35379637
DOI: 10.1136/bmjopen-2021-058267 -
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 -
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 -
Frontiers in Endocrinology 2023Preimplantation genetic testing for aneuploidy (PGT-A) is an emerging technology that aims to identify euploid embryos for transfer, reducing the risk of embryonic... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Preimplantation genetic testing for aneuploidy (PGT-A) is an emerging technology that aims to identify euploid embryos for transfer, reducing the risk of embryonic chromosomal abnormalities. However, the clinical benefits of PGT-A in recurrent pregnancy failure (RPF) patients, particularly in young RPF patients, remains uncertain.
OBJECTIVE AND RATIONALE
This meta-analysis aimed to determine whether RPF patients undergoing PGT-A had better clinical outcomes compared to those not undergoing PGT-A, thus assessing the value of PGT-A in clinical practice.
SEARCH METHODS
We systematically searched PubMed, the Cochrane Library, China National Knowledge Infrastructure (CNKI), Wanfang Data, and VIP Database for Chinese Technical Periodicals (VIP) from 2002 to 2022. Thirteen published studies involving 930 RPF patients screened using PGT-A and over 1,434 RPF patients screened without PGT-A were included in this meta-analysis. Clinical outcomes were evaluated based on embryo transfers after PGT-A (n=1,015) and without PGT-A (n=1,799).
CLINICAL OUTCOMES
The PGT-A group demonstrated superior clinical outcomes compared to the fertilization (IVF)/intracytoplasmic sperm injection (ICSI) group. The PGT-A group had a significantly higher implantation rate (IR) (RR=2.01, 95% CI: [1.73; 2.34]), clinical pregnancy rate (CPR) (RR=1.53, 95% CI: [1.36; 1.71]), ongoing pregnancy rate (OPR) (RR=1.76, 95% CI: [1.35; 2.29]), live birth rate (LBR) (RR=1.75, 95% CI: [1.51; 2.03]), and significantly lower clinical miscarriage rate (CMR) (RR=0.74, 95% CI: [0.54; 0.99]). Subgroup analysis based on patient age (under 35 years and 35 years or older) showed that both PGT-A subgroups had significantly better CPR (P<0.01) and LBR (P<0.05) values compared to the IVF/ICSI groups.
SUMMARY
This meta-analysis demonstrates that PGT-A in RPF patients, is associated with improved clinical outcomes, including higher IR, CPR, OPR, and LBR values, and lower CMR compared to the IVF/ICSI group. These findings support the positive clinical application of PGT-A in RPF patients.
SYSTEMATIC REVIEW REGISTRATION
http://INPLASY.com, identifier INPLASY 202320118.
Topics: Pregnancy; Female; Humans; Male; Adult; Preimplantation Diagnosis; Semen; Genetic Testing; Fertilization in Vitro; Abortion, Spontaneous; Aneuploidy
PubMed: 37850092
DOI: 10.3389/fendo.2023.1178294 -
JMIR MHealth and UHealth Apr 2021Atrial fibrillation (AF) is the most common cardiac arrhythmia worldwide. Early diagnosis of AF is crucial for preventing AF-related morbidity, mortality, and economic... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Atrial fibrillation (AF) is the most common cardiac arrhythmia worldwide. Early diagnosis of AF is crucial for preventing AF-related morbidity, mortality, and economic burden, yet the detection of the disease remains challenging. The 12-lead electrocardiogram (ECG) is the gold standard for the diagnosis of AF. Because of technological advances, ambulatory devices may serve as convenient screening tools for AF.
OBJECTIVE
The objective of this review was to investigate the diagnostic accuracy of 2 relatively new technologies used in ambulatory devices, non-12-lead ECG and photoplethysmography (PPG), in detecting AF. We performed a meta-analysis to evaluate the diagnostic accuracy of non-12-lead ECG and PPG compared to the reference standard, 12-lead ECG. We also conducted a subgroup analysis to assess the impact of study design and participant recruitment on diagnostic accuracy.
METHODS
This systematic review and meta-analysis was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. MEDLINE and EMBASE were systematically searched for articles published from January 1, 2015 to January 23, 2021. A bivariate model was used to pool estimates of sensitivity, specificity, positive likelihood ratio (PLR), negative likelihood ratio (NLR), and area under the summary receiver operating curve (SROC) as the main diagnostic measures. Study quality was evaluated using the quality assessment of diagnostic accuracy studies (QUADAS-2) tool.
RESULTS
Our search resulted in 16 studies using either non-12-lead ECG or PPG for detecting AF, comprising 3217 participants and 7623 assessments. The pooled estimates of sensitivity, specificity, PLR, NLR, and diagnostic odds ratio for the detection of AF were 89.7% (95% CI 83.2%-93.9%), 95.7% (95% CI 92.0%-97.7%), 20.64 (95% CI 10.10-42.15), 0.11 (95% CI 0.06-0.19), and 224.75 (95% CI 70.10-720.56), respectively, for the automatic interpretation of non-12-lead ECG measurements and 94.7% (95% CI 93.3%-95.8%), 97.6% (95% CI 94.5%-99.0%), 35.51 (95% CI 18.19-69.31), 0.05 (95% CI 0.04-0.07), and 730.79 (95% CI 309.33-1726.49), respectively, for the automatic interpretation of PPG measurements.
CONCLUSIONS
Both non-12-lead ECG and PPG offered high diagnostic accuracies for AF. Detection employing automatic analysis techniques may serve as a useful preliminary screening tool before administering a gold standard test, which generally requires competent physician analyses. Subgroup analysis indicated variations of sensitivity and specificity between studies that recruited low-risk and high-risk populations, warranting future validity tests in the general population.
TRIAL REGISTRATION
PROSPERO International Prospective Register of Systematic Reviews CRD42020179937; https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=179937.
Topics: Atrial Fibrillation; Electrocardiography; Humans; Mass Screening; Photoplethysmography; Sensitivity and Specificity
PubMed: 33835039
DOI: 10.2196/26167 -
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 -
Seizure Mar 2024To provide an updated list of epilepsy-associated genes based on clinical-genetic evidence.
PURPOSE
To provide an updated list of epilepsy-associated genes based on clinical-genetic evidence.
METHODS
Epilepsy-associated genes were systematically searched and cross-checked from the OMIM, HGMD, and PubMed databases up to July 2023. To facilitate the reference for the epilepsy-associated genes that are potentially common in clinical practice, the epilepsy-associated genes were ranked by the mutation number in the HGMD database and by case number in the China Epilepsy Gene 1.0 project, which targeted common epilepsy.
RESULTS
Based on the OMIM database, 1506 genes were identified to be associated with epilepsy and were classified into three categories according to their potential association with epilepsy or other abnormal phenotypes, including 168 epilepsy genes that were associated with epilepsies as pure or core symptoms, 364 genes that were associated with neurodevelopmental disorders as the main symptom and epilepsy, and 974 epilepsy-related genes that were associated with gross physical/systemic abnormalities accompanied by epilepsy/seizures. Among the epilepsy genes, 115 genes (68.5%) were associated with epileptic encephalopathy. After cross-checking with the HGMD and PubMed databases, an additional 1440 genes were listed as potential epilepsy-associated genes, of which 278 genes have been repeatedly identified variants in patients with epilepsy. The top 100 frequently reported/identified epilepsy-associated genes from the HGMD database and the China Epilepsy Gene 1.0 project were listed, among which 40 genes were identical in both sources.
SIGNIFICANCE
Recognition of epilepsy-associated genes will facilitate genetic screening strategies and be helpful for precise molecular diagnosis and treatment of epilepsy in clinical practice.
Topics: Humans; Epilepsy; Seizures; Genetic Testing; Mutation; Databases, Factual; Phenotype
PubMed: 37777370
DOI: 10.1016/j.seizure.2023.09.021 -
Journal of the American Academy of... Aug 2022This systematic review and meta-analysis aimed to determine the accuracies of a broad range of screening tools for attention-deficit/hyperactivity disorder (ADHD) in... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
This systematic review and meta-analysis aimed to determine the accuracies of a broad range of screening tools for attention-deficit/hyperactivity disorder (ADHD) in children and adolescents, and to compare the diagnostic accuracy of tools between population-based and clinical/high-risk samples, and across reporters.
METHOD
MEDLINE, PsycINFO, EMBASE, and PubMed were searched up until February 20, 2020, with no language restrictions. Studies reporting diagnostic accuracy of a screening tool against a diagnosis of ADHD in children and adolescents <18 years of age were eligible for inclusion. Meta-analyses were undertaken to provide pooled estimates of the area under the curve (AUC), and sensitivity and specificity of groups of measures.
RESULTS
A total of 75 studies published between 1985 and 2021 reporting on 41 screening tools that were grouped into 4 categories (Achenbach System of Empirically Based Assessment [ASEBA], DSM-IV symptom scales, SDQ, and Other Scales) were retained. The pooled AUC for studies using a combined ADHD symptoms score was 0.82 (95% CI = 0.78-0.86), although this varied considerably across reporters (0.67-0.92) and populations (CI = 0.60-0.95). None of the measures met minimal standards for acceptable sensitivity (0.8) and specificity (0.8).
CONCLUSION
Most tools have excellent overall diagnostic accuracy as indicated by the AUC. However, a single measure completed by a single reporter is unlikely to have sufficient sensitivity and specificity for clinical use or population screening.
Topics: Adolescent; Attention Deficit Disorder with Hyperactivity; Child; Diagnostic and Statistical Manual of Mental Disorders; Humans; Mass Screening; Sensitivity and Specificity
PubMed: 34958872
DOI: 10.1016/j.jaac.2021.11.031 -
BMJ Supportive & Palliative Care Jan 2024Stroke is one of the main causes of death, especially when associated with dysphagia. Hence, the assessment of nutritional status and aspiration risk is important to...
BACKGROUND/SCOPE
Stroke is one of the main causes of death, especially when associated with dysphagia. Hence, the assessment of nutritional status and aspiration risk is important to improve clinical outcomes. The aim of this systematic review is to identify which are the most suitable dysphagia screening tools in chronic post-stroke patients.
METHODOLOGY
A systematic literature search was conducted for articles published from 1 January 2000 to 30 November 2022 in the Cochrane Library, PubMed, Embase, CINAHL, Scopus and Web of Science databases, including primary studies providing quantitative or qualitative data. Additionally, a manual search was conducted scanning the reference lists of relevant articles and Google Scholar was searched to retrieve additional records. The process of screening, selection and inclusion of the articles, as well as the assessment of risk of bias and methodological quality, were conducted by two reviewers.
RESULTS
Out of the 3672 records identified, we included 10 studies, mostly (n=9) cross-sectional, evaluating screening for dysphagia in 1653 chronic post-stroke patients. Volume-Viscosity Swallow Test was the only test applied in multiple studies with adequate sample size, demonstrating high diagnostic accuracy (sensitivity=96.6%-88.2%; specificity=83.3%-71.4%) compared with the videofluoroscopic swallowing study.
CONCLUSIONS
Dysphagia is an important complication in chronic post-stroke patients. Early identification of this condition through screening tools with adequate diagnostic accuracy is of paramount importance. The limited number of studies available and their small sample sizes may be a limitation to this study.
PROSPERO REGISTRATION NUMBER
CRD42022372303.
Topics: Humans; Deglutition Disorders; Cross-Sectional Studies; Mass Screening; Nutritional Status
PubMed: 37364991
DOI: 10.1136/spcare-2022-004144