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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 -
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 -
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 -
Family Medicine Feb 2015Evidence-based medicine (EBM) is increasingly important in resident education, and reliable and valid tests of competence for family medicine residents are needed. (Review)
Review
BACKGROUND AND OBJECTIVES
Evidence-based medicine (EBM) is increasingly important in resident education, and reliable and valid tests of competence for family medicine residents are needed.
METHODS
MEDLINE, PsycINFO, ERIC, ERC, and the Research & Development Resource Base (University of Toronto) were searched from inception to June 2014 to identify competence tests of family medicine and general practice residents in EBM. Two authors independently assessed all titles, abstracts, and full texts and abstracted data.
RESULTS
Three EBM courses were evaluated by the Fresno test. Seven other authors designed EBM interventions and individual tests to evaluate them. Content validity was assessed by nine studies, construct validity by five, face validity by three, and concurrent validity by one. Internal reliability was reported by seven studies, inter-rater by four, item difficult and item discrimination by two, and intra-rater by one. Eight studies reported that knowledge scores increased significantly after the intervention.
CONCLUSIONS
Content validity and internal reliability were the most frequently assessed measures. The basic EBM activities of identifying Population, Intervention, Comparison, Outcome, and Study Design (PICOS questions) and computing sensitivity, specificity, and number needed to treat (NNT) are unlikely to change. However, guidelines are often used in EBM courses, and they are updated regularly, which will involve new clinical scenarios, PICOS questions, and statistical computations. The Fresno test has been evaluated with three groups of family medicine residents, has the best documentation of validity and reliability, and is the best candidate for future development. Evaluation tools also need to be developed to measure if care received by patients is EBM.
Topics: Canada; Clinical Competence; Evidence-Based Medicine; Family Practice; Humans; Internship and Residency; Reproducibility of Results; United States
PubMed: 25646982
DOI: No ID Found -
The International Journal of Behavioral... Sep 2022Accurate accelerometer-based methods are required for assessment of 24-h physical behavior in young children. We aimed to summarize evidence on measurement properties of... (Review)
Review
BACKGROUND
Accurate accelerometer-based methods are required for assessment of 24-h physical behavior in young children. We aimed to summarize evidence on measurement properties of accelerometer-based methods for assessing 24-h physical behavior in young children.
METHODS
We searched PubMed (MEDLINE) up to June 2021 for studies evaluating reliability or validity of accelerometer-based methods for assessing physical activity (PA), sedentary behavior (SB), or sleep in 0-5-year-olds. Studies using a subjective comparison measure or an accelerometer-based device that did not directly output time series data were excluded. We developed a Checklist for Assessing the Methodological Quality of studies using Accelerometer-based Methods (CAMQAM) inspired by COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN).
RESULTS
Sixty-two studies were included, examining conventional cut-point-based methods or multi-parameter methods. For infants (0-12 months), several multi-parameter methods proved valid for classifying SB and PA. From three months of age, methods were valid for identifying sleep. In toddlers (1-3 years), cut-points appeared valid for distinguishing SB and light PA (LPA) from moderate-to-vigorous PA (MVPA). One multi-parameter method distinguished toddler specific SB. For sleep, no studies were found in toddlers. In preschoolers (3-5 years), valid hip and wrist cut-points for assessing SB, LPA, MVPA, and wrist cut-points for sleep were identified. Several multi-parameter methods proved valid for identifying SB, LPA, and MVPA, and sleep. Despite promising results of multi-parameter methods, few models were open-source. While most studies used a single device or axis to measure physical behavior, more promising results were found when combining data derived from different sensor placements or multiple axes.
CONCLUSIONS
Up to age three, valid cut-points to assess 24-h physical behavior were lacking, while multi-parameter methods proved valid for distinguishing some waking behaviors. For preschoolers, valid cut-points and algorithms were identified for all physical behaviors. Overall, we recommend more high-quality studies evaluating 24-h accelerometer data from multiple sensor placements and axes for physical behavior assessment. Standardized protocols focusing on including well-defined physical behaviors in different settings representative for children's developmental stage are required. Using our CAMQAM checklist may further improve methodological study quality.
PROSPERO REGISTRATION NUMBER
CRD42020184751.
Topics: Accelerometry; Child, Preschool; Exercise; Humans; Infant; Infant, Newborn; Reproducibility of Results; Sedentary Behavior; Time Factors
PubMed: 36076221
DOI: 10.1186/s12966-022-01296-y -
Genes & Nutrition Apr 2023The predominant source of alcohol in the diet is alcoholic beverages, including beer, wine, spirits and liquors, sweet wine, and ciders. Self-reported alcohol intakes... (Review)
Review
The predominant source of alcohol in the diet is alcoholic beverages, including beer, wine, spirits and liquors, sweet wine, and ciders. Self-reported alcohol intakes are likely to be influenced by measurement error, thus affecting the accuracy and precision of currently established epidemiological associations between alcohol itself, alcoholic beverage consumption, and health or disease. Therefore, a more objective assessment of alcohol intake would be very valuable, which may be established through biomarkers of food intake (BFIs). Several direct and indirect alcohol intake biomarkers have been proposed in forensic and clinical contexts to assess recent or longer-term intakes. Protocols for performing systematic reviews in this field, as well as for assessing the validity of candidate BFIs, have been developed within the Food Biomarker Alliance (FoodBAll) project. The aim of this systematic review is to list and validate biomarkers of ethanol intake per se excluding markers of abuse, but including biomarkers related to common categories of alcoholic beverages. Validation of the proposed candidate biomarker(s) for alcohol itself and for each alcoholic beverage was done according to the published guideline for biomarker reviews. In conclusion, common biomarkers of alcohol intake, e.g., as ethyl glucuronide, ethyl sulfate, fatty acid ethyl esters, and phosphatidyl ethanol, show considerable inter-individual response, especially at low to moderate intakes, and need further development and improved validation, while BFIs for beer and wine are highly promising and may help in more accurate intake assessments for these specific beverages.
PubMed: 37076809
DOI: 10.1186/s12263-023-00726-1 -
Frontiers in Immunology 2023To identify the risk factors associated with prognosis in patients with hepatocellular carcinoma (HCC) treated with immune checkpoint inhibitors (ICI) via meta-analysis.... (Meta-Analysis)
Meta-Analysis
Development and validation of prognostic risk prediction models for hepatocellular carcinoma patients treated with immune checkpoint inhibitors based on a systematic review and meta-analysis of 47 cohorts.
OBJECTIVE
To identify the risk factors associated with prognosis in patients with hepatocellular carcinoma (HCC) treated with immune checkpoint inhibitors (ICI) via meta-analysis. And to construct prediction models to aid in the prediction and improvement of prognosis.
METHODS
We searched PubMed, Embase, Web of Science and Cochrane Library for relevant studies from inception to March 29, 2023. After completing literature screening and data extraction, we performed meta-analysis, sensitivity analysis, and subgroup analysis to identify risk factors associated with OS and PFS. Using the pooled hazard ratio value for each risk factor, we constructed prediction models, which were then validated using datasets from 19 centers in Japan and two centers in China, comprising a total of 204 patients.
RESULTS
A total of 47 studies, involving a total of 7649 ICI-treated HCC patients, were included in the meta-analysis. After analyzing 18 risk factors, we identified AFP, ALBI, NLR, ECOG performance status, Child-Pugh stage, BCLC stage, tumor number, vascular invasion and combination therapy as predictors for OS prediction model, while AFP, ALBI, NLR, ECOG performance status, Child-Pugh stage, BCLC stage, tumor number and vascular invasion were selected as predictors for PFS model. To validate the models, we scored two independent cohorts of patients using both prediction models. Our models demonstrated good performance in these cohorts. In addition, in the pooled cohort of 204 patients, Our models also showed good performance with area under the curve (AUC) values of 0.712, 0.753, and 0.822 for the OS prediction model at 1-year, 2-year, and 3-year follow-up points, respectively, and AUC values of 0.575, 0.749 and 0.691 for the PFS prediction model Additionally, the calibration curve, decision curve analysis, and Kaplan-Meier curves in the pooled cohort all supported the validity of both models.
CONCLUSION
Based on the meta-analysis, we successfully constructed the OS and PFS prediction models for ICI-treated HCC patients. We also validated the models externally and observed good discrimination and calibration. The model's selected indicators are easily obtainable, making them suitable for further application in clinical practice.
Topics: Humans; Carcinoma, Hepatocellular; Prognosis; Immune Checkpoint Inhibitors; Liver Neoplasms; alpha-Fetoproteins
PubMed: 37520554
DOI: 10.3389/fimmu.2023.1215745 -
Public Health Nutrition May 2015To identify and critique tools for the assessment of Ca and/or dairy intake in adults, in order to ascertain the most accurate and reliable tools available. (Comparative Study)
Comparative Study Review
OBJECTIVE
To identify and critique tools for the assessment of Ca and/or dairy intake in adults, in order to ascertain the most accurate and reliable tools available.
DESIGN
A systematic review of the literature was conducted using defined inclusion and exclusion criteria. Articles reporting on originally developed tools or testing the reliability or validity of existing tools that measure Ca and/or dairy intake in adults were included. Author-defined criteria for reporting reliability and validity properties were applied.
SETTING
Studies conducted in Western countries.
SUBJECTS
Adults.
RESULTS
Thirty papers, utilising thirty-six tools assessing intake of dairy, Ca or both, were identified. Reliability testing was conducted on only two dairy and five Ca tools, with results indicating that only one dairy and two Ca tools were reliable. Validity testing was conducted for all but four Ca-only tools. There was high reliance in validity testing on lower-order tests such as correlation and failure to differentiate between statistical and clinically meaningful differences. Results of the validity testing suggest one dairy and five Ca tools are valid. Thus one tool was considered both reliable and valid for the assessment of dairy intake and only two tools proved reliable and valid for the assessment of Ca intake.
CONCLUSIONS
While several tools are reliable and valid, their application across adult populations is limited by the populations in which they were tested. These results indicate a need for tools that assess Ca and/or dairy intake in adults to be rigorously tested for reliability and validity.
Topics: Adult; Australia; Calcium, Dietary; Dairy Products; Diet; Diet, Western; Europe; Humans; North America; Nutrition Assessment; Nutrition Policy; Nutrition Surveys; Patient Compliance; Validation Studies as Topic
PubMed: 25171323
DOI: 10.1017/S1368980014001633