Validation Study Research Articles

Validation Study of Cardiovascular International Statistical Classification of Diseases and Related Health Problems, Tenth Edition, Australian Modification (ICD-10-AM) Codes in Administrative Healthcare Databases (ANZACS–QI 77)

Administrative healthcare databases can be utilised for research. The accuracy of the International Statistical Classification of Diseases and Related Health Problems, Tenth Edition, Australian Modification (ICD-10-AM) coding of cardiovascular conditions in New Zealand is not known and requires validation. International Statistical Classification of Diseases and Related Health Problems, Tenth Edition, Australian Modification coded discharges for acute coronary syndrome (ACS), heart failure (HF) and atrial fibrillation (AF), in both primary and secondary diagnostic positions, were identified from four district health boards between 1 January 2019 and 31 June 2019. A sample was randomly selected for retrospective clinician review for evidence of the coded diagnosis according to contemporary diagnostic criteria. Positive predictive values (PPVs) for ICD-10-AM coding vs clinician review were calculated. This study is also known as All of New Zealand, Acute Coronary Syndrome-Quality Improvement (ANZACS-QI) 77. A total of 600 cases (200 for each diagnosis, 5.0% of total identified cases) were reviewed. The PPV of ACS was 93% (95% confidence interval [CI] 89%-96%), HF was 93% (95% CI 89%-96%) and AF was 96% (95% CI 92%-98%). There were no differences in PPV between district health boards. PPV for ACS were lower in Māori vs non-Māori (72% vs 96%; p=0.004), discharge from non-Cardiology vs Cardiology services (89% vs 96%; p=0.048) and ICD-10-AM coding for unstable angina vs myocardial infarction (81% vs 95%; p=0.011). PPV for HF were higher in the primary vs secondary diagnostic position (100% vs 89%; p=0.001). The PPVs of ICD-10-AM coding for ACS, HF, and AF were high in this validation study. ICD-10-AM coding can be used to identify these diagnoses in administrative databases for the purposes of healthcare evaluation and research.

Optimizing Supply Chain Resilience in the Era of Global Disruptions: A Comprehensive Framework for Effective Risk Management

Optimizing Supply Chain Resilience in the Era of Global Disruptions: A Comprehensive Framework for Effective Risk Management

Psychometric properties of the spatial skills self-efficacy scale: A validity and reliability study

The aim of this study was to develop a valid and reliable spatial skills self-efficacy scale for middle school students. To this end, the study sampled 5th-, 6th-, 7th-, and 8-grade students in the spring term of the 2021–2022 academic year. The data were collected from 1369 students for the pilot study and the validity and reliability analysis to investigate the psychometric properties of the scale. Twenty-five subject matter experts were asked for opinions and Lawshe's content validity ratio (1975) was used to measure the content validity of the scale. The results of the exploratory factor analysis conducted for the construct validity yielded a four-factor structure consisting of seventeen items, which accounted for 41.37 % of the total variance. The factor loadings of the scale items ranged from 0.41 to 0.75. When the fit indices of the model were examined as a result of Confirmatory Factor Analysis, it was determined that the firstorder multifactor structure were within the excellent or acceptable value ranges. The Cronbach's alpha coefficient was found to be 0.77 for the total scale. The results of the independent samples t-test for the upper and lower 27 % groups showed a significant difference between the groups for all scale items. The correlation coefficients of the subscales with one another and with the total scale showed significant positive moderate and high correlations. The test–retest reliability coefficients also showed significant positive moderate and high correlations. These results indicate that the Spatial Skills Self-Efficacy Scale is a measurement tool that produces valid and reliable measurements and can be used to determine the spatial skills self-efficacy of middle school students.

Study of the Level of Sports Addiction Among Students at the Faculty of Sports Science

The aim of this study was to investigate the exercise addiction of the students of the School of Physical Education and Sport and to determine the differences according to the type of exercise, age of exercise and load dynamics. The Exercise Addiction Scale (EBÖ-21) developed by Housenblas and Downs (2002) and the Turkish Validity and Reliability Study by Yeltepe and İkizler (2007) and the Personal Information Form were applied to the sample group. The sample of the study consisted of 245 athletes who regularly train at Afyon Kocatepe University School of Physical Education and Sports. Studies on this subject indicate that addiction to sports is similar to addiction to chemical substances due to the presence of withdrawal and tolerance symptoms. The results of the study presented show that self-confidence and athletic performance increase as the students' level increases. When evaluating exercise addiction by gender, it was found that female students were more likely than male students to consider physical problems and show self-control and interruption of exercise behaviour. When evaluated by age, exercise addiction was found to have decreased and been brought under control in older individuals, indicating progress in self-control of addiction.

Don’t be misled: Three misconceptions about external validation of clinical prediction models

Clinical prediction models provide risks of health outcomes that can inform patients and support medical decisions. However, most models never make it to actual implementation in practice. A commonly heard reason for this lack of implementation is that prediction models are often not externally validated. While we generally encourage external validation, we argue that an external validation is often neither sufficient nor required as an essential step before implementation. As such, any available external validation should not be perceived as a license for model implementation. We clarify this argument by discussing three common misconceptions about external validation. We argue that there is not one type of recommended validation design, not always a necessity for external validation, and sometimes a need for multiple external validations. The insights from this paper can help readers to consider, design, interpret, and appreciate external validation studies.

PECARN prediction rules for CT imaging of children presenting to the emergency department with blunt abdominal or minor head trauma: a multicentre prospective validation study

The intra-abdominal injury and traumatic brain injury prediction rules derived by the Pediatric Emergency Care Applied Research Network (PECARN) were designed to reduce inappropriate use of CT in children with abdominal and head trauma, respectively. We aimed to validate these prediction rules for children presenting to emergency departments with blunt abdominal or minor head trauma. For this prospective validation study, we enrolled children and adolescents younger than 18 years presenting to six emergency departments in Sacramento (CA), Dallas (TX), Houston (TX), San Diego (CA), Los Angeles (CA), and Oakland (CA), USA between Dec 27, 2016, and Sept 1, 2021. We excluded patients who were pregnant or had pre-existing neurological disorders preventing examination, penetrating trauma, injuries more than 24 h before arrival, CT or MRI before transfer, or high suspicion of non-accidental trauma. Children presenting with blunt abdominal trauma were enrolled into an abdominal trauma cohort, and children with minor head trauma were enrolled into one of two age-segregated minor head trauma cohorts (younger than 2 years vs aged 2 years and older). Enrolled children were clinically examined in the emergency department, and CT scans were obtained at the attending clinician's discretion. All enrolled children were evaluated against the variables of the pertinent PECARN prediction rule before CT results were seen. The primary outcome of interest in the abdominal trauma cohort was intra-abdominal injury undergoing acute intervention (therapeutic laparotomy, angiographic embolisation, blood transfusion, intravenous fluid for ≥2 days for pancreatic or gastrointestinal injuries, or death from intra-abdominal injury). In the age-segregated minor head trauma cohorts, the primary outcome of interest was clinically important traumatic brain injury (neurosurgery, intubation for >24 h for traumatic brain injury, or hospital admission ≥2 nights for ongoing symptoms and CT-confirmed traumatic brain injury; or death from traumatic brain injury). 7542 children with blunt abdominal trauma and 19 999 children with minor head trauma were enrolled. The intra-abdominal injury rule had a sensitivity of 100·0% (95% CI 98·0-100·0; correct test for 145 of 145 patients with intra-abdominal injury undergoing acute intervention) and a negative predictive value (NPV) of 100·0% (95% CI 99·9-100·0; correct test for 3488 of 3488 patients without intra-abdominal injuries undergoing acute intervention). The traumatic brain injury rule for children younger than 2 years had a sensitivity of 100·0% (93·1-100·0; 42 of 42) for clinically important traumatic brain injuries and an NPV of 100·0%; 99·9-100·0; 2940 of 2940), whereas the traumatic brain injury rule for children aged 2 years and older had a sensitivity of 98·8% (95·8-99·9; 168 of 170) and an NPV of 100·0% (99·9-100·0; 6015 of 6017). The two children who were misclassified by the traumatic brain injury rule were admitted to hospital for observation but did not need neurosurgery. The PECARN intra-abdominal injury and traumatic brain injury rules were validated with a high degree of accuracy. Their implementation in paediatric emergency departments can therefore be considered a safe strategy to minimise inappropriate CT use in children needing high-quality care for abdominal or head trauma. The Eunice Kennedy Shriver National Institute of Child Health and Human Development.

The Appearance and Performance Enhancing supplement/substance use Scale (APES): Development and preliminary psychometric analysis

BackgroundThe use of both licit and illicit appearance and performance-enhancing drugs (APED) has been recognized as a key public health concern. While it is estimated that rates of APED usage in non-athlete populations is increasing, true prevalence studies are limited by a lack of psychometrically reliable and valid measures. This paper describes the development and psychometric evaluation of a survey tool for assessing APED usage. MethodInitial items for the Appearance and Performance Enhancing Supplement/Substance Use Scale (APES) were seven licit and 13 illicit APED. Following a preliminary exploration, we evaluated the concurrent validity, internal consistency, and test-retest reliability of the APES in a community sample of 265 participants. ResultsThe APES demonstrated strong internal consistency, medium to strong concurrent validity, and good to excellent test-retest reliability. ConclusionsThese results provide preliminary support for the reliability and the validity of APES scores in assessing both licit and illicit APED usage. Future studies are recommended to replicate and extend the psychometric investigations reported here to encompass additional validation studies and populations.

Algorithm Development and Early Performance Evaluation of a Next-generation Multitarget Stool DNA Screening Test for Colorectal Cancer

Background and AimsThe multitarget stool DNA (mt-sDNA) assay is a non-invasive average-risk colorectal cancer (CRC) screening test. A new biomarker panel was developed for a next-generation test to improve specificity while maintaining/increasing sensitivity. We aimed first to establish an algorithm and cutoff for the next-generation mt-sDNA test and then to validate it using archived samples from the pivotal DeeP-C study (NCT01397747) of the first-generation test. MethodsAlgorithm development and cross-validation included 3011 samples from 2 specimen collection studies (NCT03821948, NCT03789162). The algorithm and cutoff were locked before validation. Validation test set samples included 57 CRC, 583 advanced precancerous lesions (APLs), and 7022 samples negative for CRC or APLs from the DeeP-C study, which prospectively enrolled average-risk, asymptomatic adults aged 50 to 84 years before screening colonoscopy. Next-generation biomarkers included methylated DNA markers LASS4, LRRC4, PPP2R5C, and ZDHHC1 (reference marker), and fecal hemoglobin. Primary validation endpoints were CRC sensitivity and specificity for the absence of advanced neoplasia. Secondary endpoints included APL sensitivity and specificity for non-neoplastic findings or negative colonoscopy. ResultsCross-validation and best-fit results from algorithm development closely matched, confirming algorithm reliability and reproducibility. For the test set, next-generation mt-sDNA test sensitivity was 93.0% (95% CI, 83.0%-98.1%) for CRC and 48.4% (95% CI, 44.2%-52.5%) for APLs. Specificity was 88.5% (95% CI, 87.7%-89.2%) for the absence of advanced neoplasia and 90.4% (95% CI, 89.5%-91.2%) for the combination of non-neoplastic findings or negative colonoscopy. ConclusionsBased on archived samples, the next-generation mt-sDNA test demonstrated promising CRC screening performance characteristics that will be further assessed in a prospective clinical validation study (BLUE-C; NCT04144738).

Development and Validation of a Knowledge Checklist of Cognitive Therapy for Nurses(KCCTN)

This study aimed to develop a Knowledge Checklist of Cognitive Therapy for Nurses (KCCTN) to assess theeffectiveness of cognitive-behavioral therapy-based training. Sixteen items were collected from the provisional KCCTN; four response choices were created for each item with one correct response. The reliability and validity study results showed that Cronbach’s alpha was 0.63. The intra-class correlation was calculated using the data on the number of correct answers before and after the training of nursing college students, and the reliability was confirmed at r=0.65 (p<0.01). The uncorrelatedness of KCCTN and KBPAC helped establish discriminatory validity. Two-way analysis of variance with the dependent variable being the KCCTN score of the intervention group (nurses, N=30) and control group (nursing students, N=76) implementing cognitive-behavioral therapy, and pre-and post-intervention factors were calculated for hospital nurses. The results showed a significant interaction with a significant improvement in the intervention group.

Applying the British Association of Oral and Maxillofacial Surgeons quality outcomes metrics to a Regional Australian oncology and reconstructive service: benchmarking the data to audit clinical outcomes in emerging, regional and small volume centres

BackgroundThe traditional model of centralization of care, whilst having many advantages, also requires adaptation and upscaling to meet the requirements of both regional areas as well as the increasing urban sprawl. However, this transition when required, must be delivered in a safe and effective manner, to ensure comparable outcomes to current major centres. MethodsOur project was the first of its kind in terms of validation studies, utilizing the British Association of Oral and Maxillofacial Surgeons (BAOMS) recently published outcome data from the Quality and Outcomes in Oral and Maxillofacial Surgery (QOMS) project to benchmark data prospectively collected from a small volume emerging centre in Northern Queensland. ResultsAs expected, the small volume of our centre impacted on the ability to derive powerful statistical models and comparators, which is an intrinsic limitation to small volume centres, whilst they are developing services. However, during this evolution project, the use of comparison metrics, allowed for the detection of alert and alarm levels, which is invaluable to ensure patient safety and quality of outcome. ConclusionsOur paper demonstrated that irrespective of size or volume, the utilization of quality assurance metrics (national or international) provides for the safe and transparent upscaling of head and neck services in emerging, regional and small volume centres.

External validation of a nomogram for outcome prediction in management of medium-sized (1-2 cm) kidney stones.

Stone nomogram by Micali et al., able topredict treatment failure of shock-wave lithotripsy (SWL), retrograde intrarenal surgery (RIRS) and percutaneous nephrolithotomy (PNL) in the management of single 1-2 cm renal stones, was developed on 2605 patients and showed a high predictive accuracy, with an area under ROC curve of 0.793 at internal validation. The aim of the present study is to externally validate the model to assess whether it displayed a satisfactory predictive performance if applied to different populations. External validation was retrospectively performed on 3025 patients who underwent an active stone treatment from December 2010 to June 2021 in 26 centers from four countries (Italy, USA, Spain, Argentina). Collected variables included: age, gender, previous renal surgery, preoperative urine culture, hydronephrosis, stone side, site, density, skin-to-stone distance. Treatment failure was the defined outcome (residual fragments >4 mm at three months CT-scan). Model discrimination in external validation datasets showed an area under ROC curve of 0.66 (95% 0.59-0.68) with adequate calibration. The retrospective fashion of the study and the lack of generalizability of the tool towards populations from Asia, Africa or Oceania represent limitations of the current analysis. According to the current findings, Micali's nomogram can be used for treatment prediction after SWL, RIRS and PNL; however, a lower discrimination performance than the one at internal validation should be acknowledged, reflecting geographical, temporal and domain limitation of external validation studies. Further prospective evaluation is required to refine and improve the nomogram findings and to validate its clinical value.

Derivation and Validation of an Optimal Neutrophil Gelatinase-Associated Lipocalin Cutoff to Predict Stage 2/3 Acute Kidney Injury (AKI) in Critically Ill Children

IntroductionAcute kidney injury (AKI) defined by changes in serum creatinine (SCr), or oliguria is associated with increased morbidity and mortality in critically ill children. We derived and validated a clinical cutoff value for urine neutrophil gelatinase-associated lipocalin (NGAL), in a prospective multicenter study of critically ill children. We report the clinical performance of urine NGAL (uNGAL) to aid in pediatric AKI risk assessment. MethodsEligible subjects were aged > 90 days to < 22 years, admitted to an intensive care unit (ICU), and had one or more of the following: mechanical ventilation, vasoactive medication administration, solid organ or bone marrow transplantation, or hypotension within 24 hours of admission. uNGAL assessed within 24 hours of admission. The primary outcome was SCr-based Stage 2/3 AKI presence at 48-72 hours. ResultsTwenty-five (12.3%) derivation study patients had Stage 2/3 AKI at 48-72 hours. uNGAL concentration of 125 ng/mL was the optimal cutoff. Forty-seven (9.1%) validation study patients had Stage 2/3 AKI at 48-72 hours. The AUC-ROC for uNGAL performance was 0.83 (95%CI 0.77-0.90). Performance characteristics were sensitivity 72.3% (95%CI 57.4-84.4%), specificity 86.3% (95%CI 82.8-89.3%), positive predictive value 34.7% (95%CI 28.5-41.5%), and negative predictive value 96.9% (95%CI 95.1-98.0%). ConclusionsThese prospective, pediatric, multicenter studies demonstrate uNGAL in the first 24 hours performs very well to predict KDIGO Stage 2/3 AKI at 48-72 hours into an ICU course. We suggest that a urine NGAL cut point of 125 ng/mL can aid in the risk assessment for Stage 2/3 AKI persistence or development.

Validation of the emergency surgery score (ESS) in a UK patient population and comparison with NELA scoring: a retrospective multicentre cohort study.

Accurate risk scoring in emergency general surgery (EGS) is vital for consent and resource allocation. The emergency surgery score (ESS) has been validated as a reliable preoperative predictor of postoperative outcomes in EGS but has been studied only in the US population. Our primary aim was to perform an external validation study of the ESS in a UK population. Our secondary aim was to compare the accuracy of ESS and National Emergency Laparotomy Audit (NELA) scores. We conducted an observational cohort study of adult patients undergoing emergency laparotomy over three years in two UK centres. ESS was calculated retrospectively. NELA scores and all other variables were obtained from the prospectively collected Emergency Laparotomy and Laparoscopic Scottish Audit (ELLSA) database. The primary and secondary outcomes were 30-day mortality and postoperative intensive care unit (ICU) admission, respectively. A total of 609 patients were included. Median age was 65 years, 52.7% were female, the overall mortality was 9.9% and 23.8% were admitted to ICU. Both ESS and NELA were equally accurate in predicting 30-day mortality (c-statistic=0.78 (95% confidence interval (CI), 0.71-0.85) for ESS and c-statistic=0.83 (95% CI, 0.77-0.88) for NELA, p=0.196) and predicting postoperative ICU admission (c-statistic=0.76 (95% CI, 0.71-0.81) for ESS and 0.80 (95% CI, 0.76-0.85) for NELA, p=0.092). In the UK population, ESS and NELA both predict 30-day mortality and ICU admission with no statistically significant difference but with higher c-statistics for NELA score. Both scores have certain advantages, with ESS being validated for a wider range of outcomes.

Validación externa de la escala Enhanced Feedback for Effective Cardiology Treatment (EFFECT) de predicción de mortalidad en pacientes que ingresan por insuficiencia cardiaca agudizada en Álava, España

ObjectiveTo validate the EFFECT (Enhanced Feedback for Effective Cardiac Treatment) scales, which predict mortality at 1 month and 1 year after admission, in a defined cohort of patients admitted to the Araba University Hospital (HUA) with a diagnosis of acutely decompensated heart failure. MethodExternal validation study of a predictive model, in a retrospective cohort of patients admitted between October 1, 2020 and September 30, 2021. ResultsA total of 550 patients were included. The two scales demonstrated good overall discriminatory ability in our series, with an area under ROC (0.755 y 0.756) and values in Brier score (0.094 y 0.194) similar to the original series. Calibration was assessed using the Hosmer-Lemeshow test and calibration plots and was also adequate. All this despite the fact that significant differences were observed in many clinical characteristics between our series and the original one. ConclusionsThe EFFECT scales showed good predictive ability and transportability. The one-month prediction scale was also useful for predicting mortality at one year. For both time periods, mortality was similar in the groups established in the original as low and very low risk.

Validity of the Active Australia Survey in an Australian cardiac rehabilitation population

ObjectivesTo examine the long-term validity of the Active Australia Survey in a cardiac rehabilitation population using accelerometry as the reference measure. DesignCohort validation study. MethodsCardiac rehabilitation participants with coronary heart disease were recruited to a prospective cohort study. Over 7-days, 61 participants wore an ActiGraph ActiSleep accelerometer (1-second epoch, 10-minute bout) and completed the self-administered Active Australia Survey at baseline, 6-weeks, 6 and 12-months. Total daily moderate-to-vigorous physical activity from both methods was compared using Bland–Altman plots and Spearman rank-order correlations. ResultsParticipants tended to over-report moderate-to-vigorous physical activity, with more active participants more likely to over-report moderate-to-vigorous physical activity. There was a good level of agreement between the accelerometer 1-second epochs and Active Australia Survey at all time points (mean bias between accelerometer 1-second epochs and Active Australia Survey (ratio) 1.04, 1.16, 1.14, and 1.06, respectively), with weak–moderate correlations (ρ = 0.3–0.48). Conversely, there was a poor level of agreement between the accelerometer 10-minute bouts and Active Australia Survey at all time points (mean bias between accelerometer 10-minute bouts and Active Australia Survey (ratio) 6.78, 9.09, 6.35, and 5.68, respectively), with weak–moderate correlations (ρ = 0.3–0.52). Agreement between the two measures did not improve over time for both 1-second and 10-minute bout accelerometry data. ConclusionsThe Active Australia Survey may be an acceptable self-report measure of moderate-to-vigorous physical activity in cardiac rehabilitation attendees when capturing any time spent in moderate-to-vigorous physical activity. The Active Australia Survey may be useful to routinely monitor physical activity levels over-time in Australian cardiac rehabilitation programmes at both individual and group levels. Trial registrationTrial registration: Australian New Zealand Clinical Trials Registry (ANZCTR): ACTRN12615000995572, http://www.ANZCTR.org.au/ACTRN12615000995572.aspx.

Sonnenschutz bei Beschäftigten im Freien. Entwicklung und Validierung von standardisierten Fragebögen für Verhalten und Wissen

Outdoor workers are at increased risk of developing non-melanoma skin cancer. We aimed to address the lack of validated German-language measurement instruments for outdoor workers' sun safety behavior and knowledge by compiling and validating two questionnaires. By expert consensus, items for the assessment of protective behavior (OccuSun) were compiled based on existing instruments. For knowledge, a translation of the Skin Cancer and Sun Knowledge (SCSK) scale was selected. After a pre-test, a validation study including 68 outdoor workers (62% female) was conducted in 2020. The retest reliability was r=0.93 (95% confidence interval: 0.86-0.96) for the protection score and rs=0.78 (0.67-0.86) for the knowledge score. Protective behaviors were correlated with respective diary data (0.38≤rs≤0.74, p<0.001) and skin pigmentation changes (-0.23 ≥ rs ≥ -0.42, 0.007≤p≤0.165) but not with self-reported sunburn frequency (0.21 ≥ rs ≥ -0.04). Among German outdoor workers, two questionnaires for the assessment of sun protection behavior (OccuSun) and knowledge (SCSK) demonstrated good reliability. The OccuSun had generally good validity. Both instruments are fit for subsequent validation to determine their sensitivity to change.

Artificial intelligence for gastric cancer in endoscopy: From diagnostic reasoning to market

Recognition of gastric conditions during endoscopy exams, including gastric cancer, usually requires specialized training and a long learning curve. Besides that, the interobserver variability is frequently high due to the different morphological characteristics of the lesions and grades of mucosal inflammation. In this sense, artificial intelligence tools based on deep learning models have been developed to support physicians to detect, classify, and predict gastric lesions more efficiently. Even though a growing number of studies exists in the literature, there are multiple challenges to bring a model to practice in this field, such as the need for more robust validation studies and regulatory hurdles. Therefore, the aim of this review is to provide a comprehensive assessment of the current use of artificial intelligence applied to endoscopic imaging to evaluate gastric precancerous and cancerous lesions and the barriers to widespread implementation of this technology in clinical routine.

24-hour urinary sodium and potassium excretions, plasma metabolomic profiles, and cardiometabolic biomarkers in US adults: A cross-sectional study

BackgroundHigh sodium and low potassium intakes are associated with a higher risk of hypertension and cardiovascular disease (CVD), but there are limited data on the circulating metabolomics profiles of 24-hour urinary sodium and potassium excretions in free-living individuals. ObjectivesTo characterize metabolomics signatures of a high-sodium and low-potassium diet in a cross-sectional study. MethodsIn 1,028 healthy older adults from the Women’s and Men’s Lifestyle Validation Studies, we investigated the association of habitual sodium and potassium intakes measured by 2-4 24-hour urine samples with plasma metabolites (quantified using liquid chromatography-tandem mass spectrometry) and metabolomic pathways. Our primary exposures were energy-adjusted 24-hour urinary sodium excretion, potassium excretion, and sodium-to-potassium ratio, calculated based on energy expenditure derived from the Doubly Labelled Water method. Then we assessed the partial correlations of their metabolomics scores, derived from elastic net regressions, with cardiometabolic biomarkers. ResultsHigher sodium excretion was associated with 38 metabolites including higher piperine, phosphatidylethanolamine, and C5:1 carnitine. In pathway analysis, higher sodium excretion was associated with enhanced biotin and propanoate metabolism, and enhanced degradation of lysine and branched-chain amino acids (BCAAs). Metabolites associated with higher potassium and lower sodium-to-potassium ratio included quinic acid and proline-betaine. After adjusting for confounding factors, the metabolomics score for sodium-to-potassium ratio positively correlated with fasting insulin (Spearman's rank correlation coefficient ρ=0.27), C-peptide (ρ=0.30), and triglyceride (ρ=0.46), and negatively with adiponectin (ρ=-0.40), and high-density lipoprotein (HDL) cholesterol (ρ=-0.42). ConclusionsWe discovered metabolites and metabolomics pathways associated with a high-sodium diet, including metabolites related to biotin, propanoate, lysine, and BCAA pathways. The metabolomics signature for a higher sodium-low potassium diet is associated with multiple components of elevated cardiometabolic risk.

Simultaneous sequencing of 102 Y-STRs on Ion Torrent ™ GeneStudio ™ S5 System

The Precision ID NGS System from Thermo Fisher Scientific is a mainstream next-generation sequencing (NGS) platform used in forensic laboratories to detect almost all commonly used forensic markers, except for Y-chromosomal short tandem repeats (Y-STRs). This study aimed to: 1) develop a Y-STR panel compatible with the automatic workflow of the NGS system using Ion AmpliSeq Technology, 2) evaluate the panel performance following the SWGDAM guidelines, and 3) explore the possibility of using a combination workflow to detect autosomal STRs and Y-STRs (AY-STR NGS workflow). The GrandFiler Y-STR Panel was successfully designed using the ‘separating’ and ‘merging’ strategies, including 102 Y-STRs and Amelogenin with an average amplicon length of 133 bp. It is a mega Y-STR multiplex system in which up to 16 samples can be sequenced simultaneously on an Ion 530 ™ Chip. Developmental validation studies of the performance of the NGS platform, species specificity, reproducibility, concordance, sensitivity, degraded samples, case-type samples, and mixtures were conducted to unequivocally determine whether the GrandFiler Y-STR Panel is suitable for real scenarios. The newly developed Y-STR panel showed compelling run metrics and NGS performance, including 92.47% bases with ≥ Q20, 91.80% effective reads, 2106 × depth of coverage (DoC), and 97.09% inter-locus balance. Additionally, it showed high specificity for human males and 99.40% methodological and bioinformatical concordance, generated complete profiles at ≥ 0.1 ng input DNA, and recovered more genetic information from severely degraded and diverse case samples. Although the outcome when used on mixtures was not as expected, more genetic information was obtained compared to that from capillary electrophoresis (CE) methods. The AY-STR NGS workflow was established by combining the GrandFiler Y-STR Panel with the Precision ID GlobalFiler ™ NGS STR Panel v2 at a 2:1 concentration ratio. The combination workflow on NGS performance, reproducibility, concordance, and sensitivity was as stable as the single Y-STR NGS workflow, providing more options for forensic scientists when dealing with different case scenarios. Overall, the GrandFiler Y-STR Panel was confirmed as the first to effectively detect a large number of Y-STR markers on the Precision ID NGS System, which is compatible with 51 Y-STRs in commercial CE kits and 51 Y-STRs in commercial NGS kits and the STRBase. The panel is as robust, reliable, and sensitive as current CE/NGS kits, and is suitable for solving real cases, especially for severely degraded samples (degradation index > 10).

Cardiovascular Risk Assessment in Pregnancy: Findings From a Large Urban Academic Medical Center [ID 2683572

INTRODUCTION: The goal of this study is to describe patients who screened positive and had true cardiovascular disease (CVD) identified using a risk assessment tool in pregnancy or postpartum. METHODS: This is a prospective validation study of the CVD screening algorithm proposed by the California Maternal Quality Care Collaborative (CMQCC). The CVD risk assessment tool was embedded in the electronic medical record for use by all prenatal care providers with a goal of at least one CVD risk assessment during pregnancy and/or postpartum period. Patients identified with increased risk of CVD received an echocardiogram, electrocardiogram, and cardiology consultation. We describe the assessment tool responses, timing of assessment, cardiac findings, and subsequent interventions. This study was approved by the IRB at Albert Einstein College of Medicine. RESULTS: A total of 1,877 patients were screened as of September 1, 2023, with 148 screening positive for at risk of CVD. Thirty-two patients were found to be true positives including 2 (6.25%) with systolic and/or diastolic dysfunction, 10 (31.3%) with ventricular dilation or hypertrophy, and 23 (71.9%) with a valvular abnormality. CONCLUSION: All 32 true-positive cases were seen by a multidisciplinary cardio-obstetrics team at least once. Ten patients had multiple visits with the cardio-obstetrics team. Three patients were deemed to be of higher risk for decompensation during labor by modified World Health Organization classification and required detailed plans for intrapartum and postpartum management. Seven patients were started on cardiovascular medications. The cardiovascular risk assessment tool proved valuable for identifying and providing individualized care for cardio-obstetric patients.