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British Journal of Clinical Pharmacology Apr 2021Numerous algorithms have been developed to guide warfarin dosing and improve clinical outcomes. We reviewed the algorithms available for various populations and the... (Review)
Review
AIMS
Numerous algorithms have been developed to guide warfarin dosing and improve clinical outcomes. We reviewed the algorithms available for various populations and the covariates, performances and risk of bias of these algorithms.
METHODS
We systematically searched MEDLINE up to 20 May 2020 and selected studies describing the development, external validation or clinical utility of a multivariable warfarin dosing algorithm. Two investigators conducted data extraction and quality assessment.
RESULTS
Of 10 035 screened records, 266 articles were included in the review, describing the development of 433 dosing algorithms, 481 external validations and 52 clinical utility assessments. Most developed algorithms were for dose initiation (86%), developed by multiple linear regression (65%) and mostly applicable to Asians (49%) or Whites (43%). The most common demographic/clinical/environmental covariates were age (included in 401 algorithms), concomitant medications (270 algorithms) and weight (229 algorithms) while CYP2C9 (329 algorithms), VKORC1 (319 algorithms) and CYP4F2 (92 algorithms) variants were the most common genetic covariates. Only 26% and 7% algorithms were externally validated and evaluated for clinical utility, respectively, with <2% of algorithm developments and external validations being rated as having a low risk of bias.
CONCLUSION
Most warfarin dosing algorithms have been developed in Asians and Whites and may not be applicable to under-served populations. Few algorithms have been externally validated, assessed for clinical utility, and/or have a low risk of bias which makes them unreliable for clinical use. Algorithm development and assessment should follow current methodological recommendations to improve reliability and applicability, and under-represented populations should be prioritized.
Topics: Algorithms; Anticoagulants; Cytochrome P-450 CYP2C9; Dose-Response Relationship, Drug; Genotype; Humans; Pharmacogenetics; Reproducibility of Results; Vitamin K Epoxide Reductases; Warfarin
PubMed: 33080066
DOI: 10.1111/bcp.14608 -
Human Reproduction Update Dec 2021Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and monogenic...
BACKGROUND
Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and monogenic causes. Approximately 4% of all infertile men are now diagnosed with a genetic cause, but a majority (60-70%) remain without a clear diagnosis and are classified as unexplained. This is likely in large part due to a delay in the field adopting next-generation sequencing (NGS) technologies, and the absence of clear statements from field leaders as to what constitutes a validated cause of human male infertility (the current paper aims to address this). Fortunately, there has been a significant increase in the number of male infertility NGS studies. These have revealed a considerable number of novel gene-disease relationships (GDRs), which each require stringent assessment to validate the strength of genotype-phenotype associations. To definitively assess which of these GDRs are clinically relevant, the International Male Infertility Genomics Consortium (IMIGC) has identified the need for a systematic review and a comprehensive overview of known male infertility genes and an assessment of the evidence for reported GDRs.
OBJECTIVE AND RATIONALE
In 2019, the first standardised clinical validity assessment of monogenic causes of male infertility was published. Here, we provide a comprehensive update of the subsequent 1.5 years, employing the joint expertise of the IMIGC to systematically evaluate all available evidence (as of 1 July 2020) for monogenic causes of isolated or syndromic male infertility, endocrine disorders or reproductive system abnormalities affecting the male sex organs. In addition, we systematically assessed the evidence for all previously reported possible monogenic causes of male infertility, using a framework designed for a more appropriate clinical interpretation of disease genes.
SEARCH METHODS
We performed a literature search according to the PRISMA guidelines up until 1 July 2020 for publications in English, using search terms related to 'male infertility' in combination with the word 'genetics' in PubMed. Next, the quality and the extent of all evidence supporting selected genes were assessed using an established and standardised scoring method. We assessed the experimental quality, patient phenotype assessment and functional evidence based on gene expression, mutant in-vitro cell and in-vivo animal model phenotypes. A final score was used to determine the clinical validity of each GDR, across the following five categories: no evidence, limited, moderate, strong or definitive. Variants were also reclassified according to the American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) guidelines and were recorded in spreadsheets for each GDR, which are available at imigc.org.
OUTCOMES
The primary outcome of this review was an overview of all known GDRs for monogenic causes of human male infertility and their clinical validity. We identified a total of 120 genes that were moderately, strongly or definitively linked to 104 infertility phenotypes.
WIDER IMPLICATIONS
Our systematic review curates all currently available evidence to reveal the strength of GDRs in male infertility. The existing guidelines for genetic testing in male infertility cases are based on studies published 25 years ago, and an update is far overdue. The identification of 104 high-probability 'human male infertility genes' is a 33% increase from the number identified in 2019. The insights generated in the current review will provide the impetus for an update of existing guidelines, will inform novel evidence-based genetic testing strategies used in clinics, and will identify gaps in our knowledge of male infertility genetics. We discuss the relevant international guidelines regarding research related to gene discovery and provide specific recommendations to the field of male infertility. Based on our findings, the IMIGC consortium recommend several updates to the genetic testing standards currently employed in the field of human male infertility, most important being the adoption of exome sequencing, or at least sequencing of the genes validated in this study, and expanding the patient groups for which genetic testing is recommended.
Topics: Animals; Chromosome Deletion; Genetic Testing; Genomics; High-Throughput Nucleotide Sequencing; Humans; Infertility, Male; Male
PubMed: 34498060
DOI: 10.1093/humupd/dmab030 -
Global Mental Health (Cambridge,... 2023Implementing culturally sensitive psychometric measures of depression may be an effective strategy to improve acceptance, response rate, and reliability of psychological... (Review)
Review
BACKGROUND
Implementing culturally sensitive psychometric measures of depression may be an effective strategy to improve acceptance, response rate, and reliability of psychological assessment among Indigenous populations. However, the psychometric properties of depression scales after cultural adaptation remain unclear.
METHODS
We screened the Ovid Medline, PubMed, Embase, Global Health, PsycInfo, and CINAHL databases through three levels of search terms: Depression, Psychometrics, and Indigenous, following the PRISMA guidelines. We assessed metrics for reliability (including Cronbach's alpha), validity (including fit indices), and clinical utility (including predictive value).
RESULTS
Across 31 studies included the review, 13 different depression scales were adapted through language or content modification. Sample populations included Indigenous from the Americas, Asia, Africa, and Oceania. Most cultural adaptations had strong psychometric properties; however, few and inconsistent properties were reported. Where available, alphas, inter-rater and test-retest reliability, construct validity, and incremental validity often indicated increased cultural sensitivity of adapted scales. There were mixed results for clinical utility, criterion validity, cross-cultural validity, sensitivity, specificity, area under the receiver operating characteristic curve, predictive value, and likelihood ratio.
CONCLUSIONS
Modifications to increase cultural relevance have the potential to improve fit and acceptance of a scale by the Indigenous population, however, these changes may decrease specificity and negative predictive value. There is an urgent need for suitable tools that are useful and reliable for identifying Indigenous individuals for clinical treatment of depression. This awaits future work for optimal specificity and validated cut-off points that take into account the high prevalence of depression in these populations.
PubMed: 37854390
DOI: 10.1017/gmh.2023.52 -
International Journal of Environmental... Jul 2022Three-dimensional facial imaging systems are a useful tool that is gradually replacing two-dimensional imaging and traditional anthropometry with calipers. In this... (Review)
Review
Three-dimensional facial imaging systems are a useful tool that is gradually replacing two-dimensional imaging and traditional anthropometry with calipers. In this varied and growing landscape of new devices, Canfield (Canfield Scientific, Parsippany, NJ, USA) has proposed a series of static and portable 3D imaging systems. The aim of this systematic review was to evaluate the current literature regarding the validation of Canfield's Vectra imaging systems. A search strategy was developed on electronic databases including PubMed, Web of Science and Scopus by using specific keywords. After the study selection phase, a total of 10 articles were included in the present review. A total of 10 articles were finally included in the present review. For six articles, we conducted a validation of the Vectra static devices, focusing especially on the Vectra M5, Vectra M3 and Vectra XT. For four articles, we validated the Vectra H1 portable system. All of the reviewed articles concluded that Canfield's Vectra 3D imaging systems are capable of capturing accurate and reproducible stereophotogrammetric images. Minor errors were reported, particularly in the acquisition of the perioral region, but all the evaluated devices are considered to be valid and accurate tools for clinicians.
Topics: Anthropometry; Face; Imaging, Three-Dimensional; Photogrammetry; Reproducibility of Results
PubMed: 35886670
DOI: 10.3390/ijerph19148820 -
Value in Health : the Journal of the... 2011Generic health status measures such as the short form health survey (SF-36) and EuroQol-5D (EQ-5D) are increasingly being used to inform health policy. They are claimed... (Review)
Review
OBJECTIVES
Generic health status measures such as the short form health survey (SF-36) and EuroQol-5D (EQ-5D) are increasingly being used to inform health policy. They are claimed to be applicable across disease areas and have started to be used within mental health research. This review aims to assess the construct validity and responsiveness of four generic health status measures in schizophrenia, including the preference-based SF-6D and EQ-5D.
METHOD
A systematic review of the literature was undertaken. Ten databases were searched from inception to August 2009 and reference lists scrutinized to identify relevant studies. Studies were appraised and data extracted. A narrative synthesis was performed of the evidence on construct validity including known groups validity (detecting a difference in health-related quality of life (HRQL) scores between two different groups such as samples from the general population and people with schizophrenia), convergent validity (strength of association between generic HRQL and other measures (e.g., symptom or functional), and responsiveness. Responsiveness was considered by: 1) differences in generic HRQL measure scores in responders/non-responders and 2) correlation between changes on generic HRQL measures and changes in specific measures obtained from patients and clinicians.
RESULTS
Thirty-three studies were identified that provided data on the validity and/or responsiveness of the instruments. Most of the evidence concerns the SF-36 and EQ-5D, and for these instruments there was evidence for known group validity. The evidence for convergent validity and responsiveness was mixed, with studies presenting contradictory results.
CONCLUSION
Although the evidence base is limited in a number of important respects, including problems with the measures used to develop constructs in the validation studies, it is sufficient to raise doubts about the use of generic measures of health like the EQ-5D and SF-36 in patients with schizophrenia.
Topics: Health Status; Humans; Quality of Life; Reproducibility of Results; Schizophrenia; Surveys and Questionnaires
PubMed: 21914513
DOI: 10.1016/j.jval.2011.04.006 -
Annals of Internal Medicine Jan 2024Severe maternal morbidity and mortality are worse in the United States than in all similar countries, with the greatest effect on Black women. Emerging research suggests... (Review)
Review
BACKGROUND
Severe maternal morbidity and mortality are worse in the United States than in all similar countries, with the greatest effect on Black women. Emerging research suggests that disrespectful care during childbirth contributes to this problem.
PURPOSE
To conduct a systematic review on definitions and valid measurements of respectful maternity care (RMC), its effectiveness for improving maternal and infant health outcomes for those who are pregnant and postpartum, and strategies for implementation.
DATA SOURCES
Systematic searches of Ovid Medline, CINAHL, Embase, Cochrane Central Register of Controlled Trials, PsycInfo, and SocINDEX for English-language studies (inception to July 2023).
STUDY SELECTION
Randomized controlled trials and nonrandomized studies of interventions of RMC versus usual care for effectiveness studies; additional qualitative and noncomparative validation studies for definitions and measurement studies.
DATA EXTRACTION
Dual data abstraction and quality assessment using established methods, with resolution of disagreements through consensus.
DATA SYNTHESIS
Thirty-seven studies were included across all questions, of which 1 provided insufficient evidence on the effectiveness of RMC to improve maternal outcomes and none studied RMC to improve infant outcomes. To define RMC, authors identified 12 RMC frameworks, from which 2 main concepts were identified: and frameworks. Disrespect and abuse components focused on recognizing birth mistreatment; rights-based frameworks incorporated aspects of reproductive justice, human rights, and antiracism. Five overlapping framework themes include freedom from abuse, consent, privacy, dignity, communication, safety, and justice. Twelve tools to measure RMC were validated in 24 studies on content validity, construct validity, and internal consistency, but lack of a gold standard limited evaluation of criterion validity. Three tools specific for RMC had at least 1 study demonstrating consistency internally and with an intended construct relevant to U.S. settings, but no single tool stands out as the best measure of RMC.
LIMITATIONS
No studies evaluated other health outcomes or RMC implementation strategies. The lack of definition and gold standard limit evaluation of RMC tools.
CONCLUSION
Frameworks for RMC are well described but vary in their definitions. Tools to measure RMC demonstrate consistency but lack a gold standard, requiring further evaluation before implementation in U.S. settings. Evidence is lacking on the effectiveness of implementing RMC to improve any maternal or infant health outcome.
PRIMARY FUNDING SOURCE
Agency for Healthcare Research and Quality. (PROSPERO: CRD42023394769).
Topics: Infant; Pregnancy; Female; Humans; Maternal Health Services; Respect; Obstetrics; Delivery, Obstetric; Postpartum Period; Quality of Health Care
PubMed: 38163377
DOI: 10.7326/M23-2676 -
Children (Basel, Switzerland) Oct 2023All societies should carefully address the child abuse and neglect phenomenon due to its acute and chronic sequelae. Even if artificial intelligence (AI) implementation... (Review)
Review
All societies should carefully address the child abuse and neglect phenomenon due to its acute and chronic sequelae. Even if artificial intelligence (AI) implementation in this field could be helpful, the state of the art of this implementation is not known. No studies have comprehensively reviewed the types of AI models that have been developed/validated. Furthermore, no indications about the risk of bias in these studies are available. For these reasons, the authors conducted a systematic review of the PubMed database to answer the following questions: "what is the state of the art about the development and/or validation of AI predictive models useful to contrast child abuse and neglect phenomenon?"; "which is the risk of bias of the included articles?". The inclusion criteria were: articles written in English and dated from January 1985 to 31 March 2023; publications that used a medical and/or protective service dataset to develop and/or validate AI prediction models. The reviewers screened 413 articles. Among them, seven papers were included. Their analysis showed that: the types of input data were heterogeneous; artificial neural networks, convolutional neural networks, and natural language processing were used; the datasets had a median size of 2600 cases; the risk of bias was high for all studies. The results of the review pointed out that the implementation of AI in the child abuse and neglect field lagged compared to other medical fields. Furthermore, the evaluation of the risk of bias suggested that future studies should provide an appropriate choice of sample size, validation, and management of overfitting, optimism, and missing data.
PubMed: 37892322
DOI: 10.3390/children10101659 -
European Archives of... Jun 2023This systematic review aimed to provide a comprehensive overview of the validity and reliability of existing measurement instruments for quantifying head and neck... (Review)
Review
PURPOSE
This systematic review aimed to provide a comprehensive overview of the validity and reliability of existing measurement instruments for quantifying head and neck lymphedema.
METHODS
Four databases were searched on January 31st, 2022. The COnsensus-based Standards for selecting health Measurement INstruments (COSMIN) checklists were used for the risk of bias (ROB) assessment.
RESULTS
Out of 3362 unique records, eight studies examined the reliability and validity of five measurement instruments of which one patient reported outcome. The Patterson scale for internal lymphedema and the patient reported head and neck external lymphedema and fibrosis (LIDS-H&N) demonstrated validity and reliability. For external lymphedema, none of the instruments had good reliability for all measuring points.
CONCLUSION
There is a lack of sufficiently reliable and valid measurement instruments for external head and neck lymphedema. The Patterson scale and the patient reported LIDS-H&N seem reliable for clinical practice and research.
Topics: Humans; Reproducibility of Results; Neck; Head; Head and Neck Neoplasms; Lymphedema
PubMed: 36763153
DOI: 10.1007/s00405-023-07841-0 -
Frontiers in Public Health 2022Using the self-reported questionnaire to assess the levels of physical activity (PA) and sedentary behavior (SB) has been a widely recognized method in public health and...
Is the Health Behavior in School-Aged Survey Questionnaire Reliable and Valid in Assessing Physical Activity and Sedentary Behavior in Young Populations? A Systematic Review.
BACKGROUNDS
Using the self-reported questionnaire to assess the levels of physical activity (PA) and sedentary behavior (SB) has been a widely recognized method in public health and epidemiology research fields. The selected items of the Health Behavior in School-aged (HBSC) Survey Questionnaire have been used globally for measurements and assessments in PA and SB of children and adolescents. However, there are no comprehensive and critical reviews to assess the quality of studies on reliability and validity of selected items for PA and SB measurement and assessment derived from the HBSC. Thus, this review aimed to critically assess the quality of those studies and summary evidence for future recommendations.
METHODS
A systematic review protocol was used to search potentially eligible studies on assessing reliability and validity of PA and SB measures of the HBSC questionnaire. electronically academic databases were used. The information on the reliability and validity of the PA and SB measures were extracted and evaluated with well-recognized criteria or assessment tools.
RESULTS
After a literature search, six studies were included in this review. The reliability of PA measures of the HBSC questionnaire showed a moderate agreement while the reliability of SB measures showed a great variation across the different items in the different subgroups. The validity of the PA measures had acceptable performance, whereas no studies assess the validity of the SB measures. The included studies all had quality weaknesses on reliability or validity analysis.
CONCLUSIONS
The PA and SB measures of the HBSC questionnaires were reliable in assessing PA and SB among adolescents. However, a little evidence showed that PA measures are partially valid in assessing PA, but no evidence confirmed the validity of SB measures. The included studies all had methodological weaknesses in examining the reliability and validity of the PA and SB measures, which should be addressed in the future. Further studies are encouraged to use a more standardized study design to examine the reliability and validity of the PA and SB measures in more young populations.
Topics: Adolescent; Child; Exercise; Health Behavior; Humans; Reproducibility of Results; Sedentary Behavior; Surveys and Questionnaires
PubMed: 35419332
DOI: 10.3389/fpubh.2022.729641 -
International Journal of Surgery... 2014To conduct a systematic review of the validity data for the virtual reality surgical simulator platforms available in Otolaryngology. (Review)
Review
OBJECTIVE
To conduct a systematic review of the validity data for the virtual reality surgical simulator platforms available in Otolaryngology.
DATA SOURCES
Ovid and Embase databases searched July 13, 2013.
REVIEW METHODS
Four hundred and nine abstracts were independently reviewed by 2 authors. Thirty-six articles which fulfilled the search criteria were retrieved and viewed in full text. These articles were assessed for quantitative data on at least one aspect of face, content, construct or predictive validity. Papers were stratified by simulator, sub-specialty and further classified by the validation method used.
RESULTS
There were 21 articles reporting applications for temporal bone surgery (n = 12), endoscopic sinus surgery (n = 6) and myringotomy (n = 3). Four different simulator platforms were validated for temporal bone surgery and two for each of the other surgical applications. Face/content validation represented the most frequent study type (9/21). Construct validation studies performed on temporal bone and endoscopic sinus surgery simulators showed that performance measures reliably discriminated between different experience levels. Simulation training improved cadaver temporal bone dissection skills and operating room performance in sinus surgery.
CONCLUSION
Several simulator platforms particularly in temporal bone surgery and endoscopic sinus surgery are worthy of incorporation into training programmes. Standardised metrics are necessary to guide curriculum development in Otolaryngology.
Topics: Computer Simulation; Education, Medical, Continuing; Humans; Otolaryngology; Otologic Surgical Procedures; Otorhinolaryngologic Surgical Procedures; User-Computer Interface
PubMed: 24316019
DOI: 10.1016/j.ijsu.2013.11.007