Risk Calculator Research Articles

Systematic risk ranking of microbiological hazards in infant foods

Ensuring food safety, particularly for vulnerable groups, like infants and young children, requires identifying and prioritizing potential hazards in food chains. We previously developed a web-based decision support system (DSS) to identify specific microbiological hazards (MHs) in infant and toddler foods through a structured five-step process. This study takes the framework further by introducing systematic risk ranking (RR) steps to rank MH risks with seven criteria: process survival, recontamination, growth opportunity, meal preparation, hazard-food association evidence, food consumption habits of infants and toddlers in the EU, and MH severity. Each criterion is given a semi-quantitative or quantitative score or risk value, contributing to the final MH risk calculation via three aggregation methods: semi-quantitative risk scoring, semi-quantitative risk value, and outranking multi-criteria decision analysis (MCDA). To validate the criteria and ranking approaches, we conducted a case study to rank MH risks in infant formula, compared the results of the three risk ranking methods, and additionally evaluated the ranking results against expert opinions to ensure their accuracy. The results showed strong agreement among the three methods, consistently ranking Salmonella non-Typhi and Cronobacter spp. and Shiga-toxin-producing Escherichia coli as the top MH risks in infant formulae, with minor deviations. When MHs were ranked after an initial hazard identification step, all three methods produced nearly identical MH rankings, reinforcing the reliability of the ranking steps and the selected criteria. Notably, the risk value and MCDA methods provided more informative MH rankings compared to the risk scoring method. The risk value and risk scoring methods were implemented into an online tool, called the MIcrobiological hazards risk RAnking decision support system (Mira-DSS), available at https://foodmicrobiologywur.shinyapps.io/MIcrobial_hazards_RAnking/. In conclusion, our framework enables the ranking of MH risks, facilitating intervention comparisons and resource allocations to mitigate MH risks in infant foods, with potential applicability to broader food categories.

Environmental and human health risk assessment of soils in areas of ore mineralization and past gold-mining activity.

The patterns of the potentially toxic elements (PTEs: Cr, Fe, Ni, Cu, Zn, As, Mo, Pb, Hg) distribution in soils were studied together with the health risk assessment in the area of ore mineralization, past gold activity, and tailing effects of the Sarala gold-ore group located in the Republic of Khakassia, Russia. High PTE concentrations were found in soils with the presence of potential negative impact on human health based on the following: local background investigation, according to statistics; geochemical, environmental, and human health risk calculations; and comparative analysis using international and local reference, such as continental crust, clarke, and permissible concentrations. Sources of PTE soil enrichment and pollution were statistically identified in ascending order of degree: geogenic (local background) < geogenic-technogenic (sites with geological exploration traces - trenches) < technogenic (waste tailings). The main pollutants are Hg and As which showed moderate to significant ecological risk. Negative impact of Cr on soils was found. The pollution degree and toxicity (moderate to significant) of other PTEs increase in the location of ore mineralization zone with exploration trenches and waste tailings. Arsenic poses a carcinogenic risk to adults and children upon contact with polluted soils and non-carcinogenic effect on children in areas affected by tailings and ore mineralization zone. The non-carcinogenic effect of Fe on children was found in soils of all sites. The results provide useful information regarding the studied PTEs and their impact on the environment and human health. Such information can be helpful for the state-level decision-making process when addressing solutions for contaminated areas.

Serum levels of vitamin B12 combined with folate and plasma total homocysteine predict ischemic stroke disease: a retrospective case-control study

PurposeThis study aimed to identify and quantify the association and investigate whether serum vitamin B12 alone or vitamin B12 combined with folate and plasma total homocysteine (tHcy) levels could be used to predict the risk of acute ischemic stroke.Materials and methodsThis retrospective case-control study was conducted in the Department of Neurology, First Affiliated Hospital of Chongqing Medical University. It included 259 inpatients experiencing their first-ever acute ischemic stroke and 259 age-matched, sex-matched healthy controls. Patients were categorized into groups based on the etiology of their stroke: large-artery atherosclerosis (LAAS, n = 126), cardio embolism (CEI, n = 35), small vessel disease (SVD, n = 89), stroke of other determined etiology (ODE, n = 5), and stroke of undetermined etiology (UDE, n = 4). The associations of serum vitamin B12, folate, and plasma tHcy levels with the risk of ischemic stroke were evaluated using multivariable logistic regression analysis. Receiver operator characteristic (ROC) curves were used to assess the diagnostic power of vitamin B12, folate, and tHcy levels for ischemic stroke.ResultsSerum vitamin B12 and folate levels were significantly lower in ischemic stroke patients compared to controls, while plasma tHcy levels were significantly higher. The first quartile of serum vitamin B12 levels was significantly associated with an increased risk of LAAS (aOR = 2.289, 95% CI = 1.098–4.770), SVD (aOR = 4.471, 95% CI = 1.110–4.945) and overall ischemic stroke (aOR = 3.216, 95% CI = 1.733–5.966). Similarly, the first quartile of serum folate levels was associated with an increased risk of LAAS (aOR = 3.480, 95% CI = 1.954–6.449), CEI (aOR = 2.809, 95% CI = 1.073–4.991), SVD (aOR = 5.376, 95% CI = 1.708–6.924), and overall ischemic stroke (aOR = 3.381, 95% CI = 1.535–7.449). The fourth quartile of tHcy levels was also significantly associated with an increased risk of LAAS (aOR = 2.946, 95% CI = 1.008–5.148), CEI (aOR = 2.212, 95% CI = 1.247–5.946), SVD (aOR = 2.957, 95% CI = 1.324–6.054), and overall ischemic stroke (aOR = 2.233, 95% CI = 1.586–4.592). For predicting different types of ischemic stroke, vitamin B12 alone demonstrated the best diagnostic value for SVD, evidenced by a sensitivity of 71.0% and negative predictive value of 90.3%, along with the highest positive likelihood ratio (+ LR) for SVD. Vitamin B12 + tHcy + folate are valuable in predicting different types of ischemic stroke, with the most significant effect observed in SVD, followed by LAAS, and the weakest predictive effect in CEI. Additionally, vitamin B12 alone in combination with other indicators, such as folate alone, tHcy alone, and folate + tHcy could reduce negative likelihood ratio (-LR) and improve + LR.ConclusionsVitamin B12 was an independent risk factor for acute ischemic stroke. The risk calculation model constructed with vitamin B12 + tHcy + folate had the greatest diagnostic value for SVD.

Multi-Criteria Model for Identifying and Ranking Risky Types of Maritime Accidents Using Integrated Ordinal Priority Approach and Grey Relational Analysis Approach

Accidents in marine operations are occurring consistently despite government safety initiatives and efforts to lower the number of accidents and the ensuing human casualties. Since each accident type has a different frequency and casualty rate, identifying risky accident types is important to determine the priority for taking necessary risk reduction actions. Usually, a risk is calculated using two criteria, i.e., the frequency and fatality of an accident. However, the accident statistics show that for the last 5 years from 2018 to 2022, the injury rate is more than three times the death rate in maritime accidents in Korean waters. Considering the importance of injury, unlike other previous studies, we perform a risk analysis with three criteria, i.e., frequency, death, and injury to complement the conventional risk calculation methods, which can help decision-makers allocate the limited resources to the riskiest types of accidents in order of priority. In doing so, we employed an integrated ordinal priority approach (OPA) and grey relational analysis (GRA) method to assign proper weight to each criterion and rank eight accident types. We categorized the accidents types into three different groups where safety accidents and collisions were ranked as the most dangerous types. The combined OPA and GRA technique has been effectively applied to other risky industries, as well as the maritime industry. Additionally, the proposed method is suitable for multi-criteria models when each criterion has a different importance. Finally, the method can be integrated into the framework of the risk ranking process to enhance the analysis results.

An assessment of the value of deep neural networks in genetic risk prediction for surgically relevant outcomes.

Postoperative complications affect up to 15% of surgical patients constituting a major part of the overall disease burden in a modern healthcare system. While several surgical risk calculators have been developed, none have so far been shown to decrease the associated mortality and morbidity. Combining deep neural networks and genomics with the already established clinical predictors may hold promise for improvement. The UK Biobank was utilized to build linear and deep learning models for the prediction of surgery relevant outcomes. An initial GWAS for the relevant outcomes was initially conducted to select the Single Nucleotide Polymorphisms for inclusion in the models. Model performance was assessed with Receiver Operator Characteristics of the Area Under the Curve and optimum precision and recall. Feature importance was assessed with SHapley Additive exPlanations. Models were generated for atrial fibrillation, venous thromboembolism and pneumonia as genetics only, clinical features only and a combined model. For venous thromboembolism, the ROC-AUCs were 60.1% [59.6%-60.4%], 63.4% [63.2%-63.4%] and 66.6% [66.2%-66.9%] for the linear models and 51.5% [49.4%-53.4%], 63.2% [61.2%-65.0%] and 62.6% [60.7%-64.5%] for the deep learning SNP, clinical and combined models, respectively. For atrial fibrillation, the ROC-AUCs were 60.3% [60.0%-60.4%], 78.7% [78.7%-78.7%] and 80.0% [79.9%-80.0%] for the linear models and 59.4% [58.2%-60.9%], 78.8% [77.8%-79.8%] and 79.8% [78.8%-80.9%] for the deep learning SNP, clinical and combined models, respectively. For pneumonia, the ROC-AUCs were 50.1% [49.6%-50.6%], 69.2% [69.1%-69.2%] and 68.4% [68.0%-68.5%] for the linear models and 51.0% [49.7%-52.4%], 69.7% [.5%-70.8%] and 69.7% [68.6%-70.8%] for the deep learning SNP, clinical and combined models, respectively. In this report we presented linear and deep learning predictive models for surgery relevant outcomes. Overall, predictability was similar between linear and deep learning models and inclusion of genetics seemed to improve accuracy.

Cardiovascular risk assessment using SCORE2 in a population with hypertension – The reality at a primary health care unit

Introduction and objectivesCardiovascular disease (CVD) is the leading cause of morbidity and mortality in Portugal, thus it is important to identify individuals at risk. Patients with hypertension have an increased risk of adverse cardiovascular (CV) events. The role of LDL cholesterol (LDL-C) in atherosclerotic CVD is well-established. SCORE2, a new CV risk calculation tool, is used to predict the 10-year risk of fatal or non-fatal CVD. The aim of this study was to understand the impact of SCORE2 on CV risk assessment in a population with hypertension from a moderate risk country, compared to the previously used SCORE. MethodsThis observational cross-sectional study analyzed a population census of 3146 patients diagnosed with hypertension without complications (K86). After applying inclusion and exclusion criteria, 654 patients were included. Data from medical records were collected to calculate and compare SCORE and SCORE2 categories and LDL-C targets. ResultsPatients were classified into SCORE categories: 188 (28.75%) low, 448 (68.5%) moderate, 17 (2.6%) high and 1 (0.15%) very high risk. Using SCORE2, individuals in the SCORE low risk category were reclassified, requiring new targets: 149 individuals (80%) as low to moderate and 39 (20%) as high risk. These differences became more evident when considering SCORE moderate and high-risk categories, where 358 patients (77%) received a higher CV risk categorization, and therefore a lower LDL-C target. There was a significant increase in individuals failing to meet the target when using SCORE2, compared to SCORE (p<0.001). ConclusionThese findings support the importance of CV risk assessment using SCORE2 algorithm in patients with hypertension.

Assessing the effectiveness of ACS surgical risk calculator versus P-POSSUM in predicting mortality and morbidity for major hepatobiliary surgery: An observational study.

Risk assessment is difficult yet would provide valuable data for both the surgeons and the patients in major hepatobiliary surgeries. An ideal risk calculator should improve workflow through efficient, timely, and accurate risk stratification. The American College of Surgeons National Surgical Quality Improvement Program (ACS-NSQIP) surgical risk calculator (SRC) and Portsmouth Physiological and Operative Severity Score for the enUmeration of Mortality and Morbidity (P-POSSUM) are surgical risk stratification tools used to assess postoperative morbidity. In this study, preoperative data from 300 patients undergoing major hepatobiliary surgeries performed at a single tertiary university hospital were retrospectively collected from electronic patient records and entered into the ACS-SRC and P-POSSUM systems, and the resulting risk scores were calculated and recorded accordingly. The ACS-NSQIP-M1 (C-statistics = 0.725) and M2 (C-statistics = 0.791) models showed better morbidity discrimination ability than P-POSSUM-M1 (C-statistics = 0.672) model. The P-POSSUM-M2 (C-statistics = 0.806) model showed better differentiation success in morbidity than other models. The ACS-NSQIP-M1 (C-statistics = 0.888) and M2 (C-statistics = 0.956) models showed better mortality discrimination than P-POSSUM-M1 (C-statistics = 0.776) model. The P-POSSUM-M2 (C-statistics = 0.948) model showed better mortality differentiation success than the ACS-NSQIP-M1 and P-POSSUM-M1 models. The use of ACS-SRC and P-POSSUM calculators for major hepatobiliary surgeries offers quantitative data to assess risks for both the surgeon and the patient. Integrating these calculators into preoperative evaluation practices can enhance decision-making processes for patients. The results of the statistical analyses indicated that the P-POSSUM-M2 model for morbidity and the ACS-NSQIP-M2 model for mortality exhibited superior overall performance.

Are milk quota prices a rational investment? Modeling quotas as financial assets

AbstractOur objective in this paper is to examine the growth of the price of farm milk quotas in Canada, to shed light on their patterns of growth within the last 15 years. Our quota price model is based on the Gordon growth model, supplemented by some important characteristics of the milk quota market. Our explanatory variables include the quota rental price, interest rate, and expectations of both price and quantity growth, all for the province of Alberta over the 2009–2023 time period. Our economic model of quota prices performs well by giving results with the predicted signs for all variables in our model and high levels of statistical significance except for expectations of quantity allocations when entered separately. The model has two variants, one with the expectation of growth in quota rents and the other with the expectation of growth in the quota asset price. Econometric issues related to time series problems are dealt with. The model allows calculation of policy risk, which shows an interesting pattern over this time period.

Association of second and fourth digit (2D:4D) ratios with metabolic syndrome and cardiovascular disease risk

BackgroundThe study aimed to investigate the association of second and fourth-digit (2D:4D) ratios with metabolic syndrome (MS) and cardiovascular disease risk (CVR). MethodThis case-control study was conducted between February and March 2024 with 200 participants (100 patients +100 controls). Biochemical parameters (glucose, total cholesterol, HDL, LDL, triglycerides, haemogram, HbA1C) were recorded. All participants were evaluated in terms of MS diagnostic criteria. CVR was calculated with the ESC CVD Risk Calculator. Second-digit and fourth-digit measurements were performed and the 2D:4D ratio of both hands and the difference between 2D:4D of both hands (Dr-l) were obtained. The relationship between 2D:4D and MS, CVR, and gender was evaluated. p < .05 was considered statistically significant. ResultsForty-one percent of the study participants were male. The right-hand 2D:4D (R2D:4D) ratio was 1.009 ± 0.04 and the left-hand 2D:4D (L2D:4D) ratio was 0.991 ± 0.04 (p < .001). R2D:4D ratio was 1.010 ± 0.04 in women and 0.985 ± 0.03 in men (p = .019). R2D:4D (p < .001), Dr-l (p = .001), and CVR (p < .001) were significantly higher in men with MS (+) compared to MS (−). ConclusionIn our study, the R2D:4D ratio was found to be associated with MS and CVR in men. Low intrauterine androgen exposure may affect the development of MS, but this effect is more prominent in males.

Construction and validation of a nomogram for blood transfusion after open reduction and internal fixation (ORIF) of proximal humeral fractures in the elderly: a cross-sectional study

PurposeFew studies have focused on the risk factors leading to postoperative blood transfusion after open reduction and internal fixation (ORIF) of proximal humeral fractures (PHFs) in the elderly. Therefore, we designed this study to explore potential risk factors of blood transfusion after ORIF for PHFs. We have also established a nomogram model to integrate and quantify our research results and give feedback.MethodsIn this study, we retrospectively analyzed the clinical data of elderly PHF patients undergoing ORIF from January 2020 to December 2021. We have established a multivariate regression model and nomograph. The prediction performance and consistency of the model were evaluated by the consistency coefficient and calibration curve, respectively.Results162 patients met our inclusion criteria and were included in the final study. The following factors are related to the increased risk of transfusion after ORIF: time to surgery, fibrinogen levels, intraoperative blood loss, and surgical duration.ConclusionsOur patient-specific transfusion risk calculator uses a robust multivariable model to predict transfusion risk.The resulting nomogram can be used as a screening tool to identify patients with high transfusion risk and provide necessary interventions for these patients (such as preoperative red blood cell mobilization, intraoperative autologous blood transfusion, etc.).

Evaluation of additional resources used in therapist-assisted transdiagnostic internet-delivered cognitive behaviour therapy

BackgroundIn internet-delivered cognitive behavioural therapy (ICBT) programs, beyond standardized core ICBT lessons, brief additional resources are sometimes available to clients to address comorbid concerns or offer additional information/strategies. These resources remain understudied in terms of how they are selected and perceived by clients, as well as their relationship to satisfaction and outcomes. MethodsAmong clients (N = 793) enrolled in a 5-lesson transdiagnostic ICBT course, we examined client use and perceptions of 18 additional resources at 8 weeks in terms of whether clients found resources informative (yes/no) and or helpful (yes/no). Resources elaborated on cognitive strategies (managing beliefs, risk calculation) or on managing specific problems (agricultural stress, alcohol misuse, anger, assertiveness, chronic conditions, communication, grief, health anxiety, motivation, pain, panic, postpartum depression/anxiety, PTSD, sleep, workplace accomodations, worry). Clients also completed symptom measures and ICBT satisfaction questions at 8 weeks. ResultsApproximately 50 % (n = 398) of clients rated the resources and, on average, clients reported that 3.35 (SD = 3.34) resources were informative and 2.35 (SD = 2.52) resources were helpful as measured by direct questions developed for this study. Higher pre-treatment PTSD and GAD scores were related to a greater number of resources perceived as informative and or helpful. Rating more resources as informative and or helpful had a weak but positive association with ICBT satisfaction and depression, anxiety, PTSD and insomnia change scores. Limitations of the study include that 31 % (n = 245) did not respond to questions about use of resources and 18.9 % (n = 150) said they did not review resources. ConclusionsThere is considerable use of diverse additional resources in ICBT in routine care. Associations suggest that clients are using resources to personalize treatment to their needs and these resources are associated with treatment satisfaction and outcomes. The correlational associations between symptoms and perceived helpfulness of resources can help inform personalization algorithms to optimize ICBT delivery for clients. Further research on how to match clients with, encourage use of, and maximize benefits of resources would be beneficial.

Mitigating airborne infection risks in public transportation: A systematic review

Airborne infections pose significant challenges to public transportation systems which can result in significant decline in ridership levels and financial stress for operators. This systematic review presents a comprehensive overview of measures and strategies employed by ground public transportation agencies to protect passengers and staff while ensuring the uninterrupted operation. This study also conducted a bibliometric analysis to provide insights into key topics, publication patterns, and major contributors in the field of airborne transmission research in public transportation. We have included studies published from January 2003 to June 2024, which reported measures and recommendations for managing public transportation to reduce virus transmission. Of the 2848 initially identified studies, 69 met our eligibility criteria. Our review identified four key strategies to prevent virus transmission in public transportation, including air quality improvement, cleaning, mask-wearing, and social distancing in vehicles and stations. While social distancing poses a significant challenge to public transportation, the integration of crowd management techniques and technology-driven information dissemination can provide effective strategies for managing capacity. The adoption of technology-driven solutions, such as efficient filtration systems, automated mask detection mechanisms, ultraviolet disinfection devices, and real-time passenger information, is required to implement these strategies effectively. Transportation agencies can utilize an airborne infection risk calculator during pandemics and beyond to assess and mitigate the risk of airborne transmission in various modes of transportation. Lessons from the Covid-19 pandemic underscored the need for developing advanced technologies to enhance passenger and staff safety in public transportation vehicles and stations.

Development and usability testing of diabetes risk calculator (diacal): a health education application

Despite the growing popularity of the mobile health application, the application that addressed to calculated diabetes risk is still limited. DiaCal was developed to prevent type 2 diabetes mellitus by screening and early detection approach. This study aimed to develop and examine the usability of DiaCal smartphone application-based education. This study was conducted with a cross-sectional approach. The framework of this application is based on the American Diabetes Association diabetes risk screening instrument. The development of the DiaCal was divided into three phases: preparation, design, and piloting. System Usability Testing (SUS) instruments used to examine the user-level acceptance of this application. DiaCal app developed in android platform core modules: a) data entry, b) conversion and calculation, c) output of the risk assessment, d) education. Twenty respondents were recruited in this study to evaluate DiaCal through SUS instrument. The average adjective range score is 85.25 which indicates that the DiaCal application is in the “excellent” category and the grade level scale is in “A+”. This study showed a significant usability and acceptability of DiaCal in terms of effectiveness, efficiency, and satisfaction.

Development and Validation of PRE-SARC (PREdiction of SARCopenia Risk in Community Older Adults) Sarcopenia Prediction Model

ObjectiveReliable identification of high-risk older adults who are likely to develop sarcopenia is essential to implement targeted preventive measures and follow-up. However, no sarcopenia prediction model is currently available for community use. Our objective was to develop and validate a risk prediction model for calculating the 1-year absolute risk of developing sarcopenia in an aging population. MethodsOne prospective population-based cohort of non-sarcopenic individuals aged 60 years or older were used for the development of a sarcopenia risk prediction model and model validation. Sarcopenia was defined according to the 2019 Asian Working Group for Sarcopenia consensus. Stepwise logistic regression was used to identify risk factors for sarcopenia incidence within a 1-year follow-up. Model performance was evaluated using the area under the receiver operating characteristics curve (AUROC) and calibration plot, respectively. ResultsThe development cohort included 1042 older adults, among whom 87 participants developed sarcopenia during a 1-year follow-up. The PRE-SARC (PREdiction of SARCopenia Risk in community older adults) model can accurately predict the 1-year risk of sarcopenia by using 7 easily accessible community-based predictors. The PRE-SARC model performed well in predicting sarcopenia, with an AUROC of 87% (95% CI, 0.83-0.90) and good calibration. Internal validation showed minimal optimism, with an adjusted AUROC of 0.85. The prediction score was categorized into 4 risk groups: low (0%-10%), moderate (>10%-20%), high (>20%-40%), and very high (>40%). The PRE-SARC model has been incorporated into an online risk calculator, which is freely accessible for daily clinical applications (https://sarcopeniariskprediction.shinyapps.io/dynnomapp/). ConclusionsIn community-dwelling individuals, the PRE-SARC model can accurately predict 1-year sarcopenia incidence. This model serves as a readily available and free accessible tool to identify older adults at high risk of sarcopenia, thereby facilitating personalized early preventive approaches and optimizing the utilization of health care resources.

A comparative assessment of ACS NSQIP-predicted and actual surgical risk outcomes of robotic transhiatal esophagectomy for esophageal adenocarcinoma resection at a high volume institution.

Esophageal adenocarcinoma incidence is increasing in Western nations. There has been a shift toward minimally invasive approaches for transhiatal esophagectomy (THE). This study compares the outcomes of robotic THE for esophageal adenocarcinoma resection at our institution with the predicted metrics from the American College of Surgeons National Surgical Quality Improvement Program (ACS NSQIP). With Institutional Review Board (IRB) approval, we prospectively followed 83 patients who underwent robotic THE from 2012 to 2023. Predicted outcomes were determined using the ACS NSQIP Surgical Risk Calculator. Our outcomes were compared with these predicted outcomes and with general outcomes for transhiatal esophagectomy reported in ACS NSQIP, which includes a mix of surgical approaches. The median age of patients was 70years, with a body mass index (BMI) of 26.4kg/m2 and a male prevalence of 82%. The median length of stay was 7days. The rates of any complications and in-hospital mortality were 16% and 5%, respectively. Seven patients (8%) were readmitted within a 30-day postoperative window. The median survival is anticipated to surpass 95months. Our outcomes were generally aligned with or surpassed the predicted ACS NSQIP metrics. The extended median survival of over 95months highlights the potential effectiveness of robotic THE in the resection of esophageal adenocarcinoma. Further exploration into its long-term survival benefits and outcomes is warranted, along with studies that provide a more direct comparison between robotic and other surgical approaches.

P-509 Unveiling reproductive risks: a retrospective analysis of carrier screening in 873 non-consanguineous couples

Abstract Study question What is the prevalence of at-risk couples for recessive genetic diseases, and can preconception carrier testing effectively identify these potential couples at risk? Summary answer High-risk couples, comprising mostly carriers of the ABCA4 and HBB genes, accounted for 3.7% of the analyzed cases, while another 3.2% categorized as moderate risk. What is known already It is widely recognized that approximately 2-3% of couples may be at risk of having an affected child with a genetic recessive disease. Expanded carrier screening tests (ECS) are currently employed to identify carrier status in healthy individuals for various severe recessive and X-linked diseases that manifest early in life, and often lack treatment options. ECS facilitates the detection of couples sharing mutated genes, allowing for risk calculation and further interventions to avoid affected pregnancies. Study design, size, duration In this retrospective descriptive study, we evaluated couples in which both partners elected to complete ECS before undergoing medically assisted reproduction across our Spanish and Italian clinics between August 2018 and January 2024. A total of 873 non-consanguineous couples were identified during the study period. Participants/materials, setting, methods All couples received pre-test genetic counseling alongside the informed consent for ECS. Saliva or blood samples were sent to an external genetics lab for the analysis of 309 genes (recessive and X linked), using NGS and complementary molecular techniques to detect pathogenic and likely pathogenic variants. Each couple’s risk was subsequently calculated. Post-test genetic counselling was offered to all of couples. Main results and the role of chance A total of 55 couples were identified as having reproductive risk, carrying pathogenic or likely pathogenic variants in genes exhibiting recessive or recessive digenic inheritance. These couples were categorized into high and moderate-risk groups based on the severity, actionability, and probability of causing classical gene-linked diseases. Ultimately, 3.5% (n = 31/873) of couples were deemed high-risk, with ABCA4 and HBB being the most frequently mutated genes, observed in 6 and 5 couples respectively (0.7% and 0.6%). Additionally, 24 couples (2.74%) were classified as moderate risk, primarily carrying a classical pathogenic variant and a non-classical pathogenic variant in the CFTR gene. This allele combination could result in a child presenting a mild cystic fibrosis phenotype, predominantly observed in males, and characterized by the absence of a vas deferens. Limitations, reasons for caution The main limitation of the study rests in interpreting the variants in healthy patients. The study does not delve into exploring the genetic heterogeneity within the identified risk groups, which may influence the severity and manifestation of diseases. Wider implications of the findings The cumulative risk observed in close to 6% of the cohort underscores the critical importance of carrier testing in guiding preconception interventions and the role and importance of having a well-trained, multidisciplinary genetics team to support these couples in reproductive decision-making with minimal anxiety and maximum knowledge. Trial registration number Not Applicable

ASO Visual Abstract: Impact of an Online Risk Calculator for Sentinel Node Positivity on Management of Patients with T1 and T2 Melanomas.

ASO Visual Abstract: Impact of an Online Risk Calculator for Sentinel Node Positivity on Management of Patients with T1 and T2 Melanomas.

Prostate cancer risk assessment and avoidance of prostate biopsies using fully automatic deep learning in prostate MRI: comparison to PI-RADS and integration with clinical data in nomograms.

Risk calculators (RCs) improve patient selection for prostate biopsy with clinical/demographic information, recently with prostate MRI using the prostate imaging reporting and data system (PI-RADS). Fully-automated deep learning (DL) analyzes MRI data independently, and has been shown to be on par with clinical radiologists, but has yet to be incorporated into RCs. The goal of this study is to re-assess the diagnostic quality of RCs, the impact of replacing PI-RADS with DL predictions, and potential performance gains by adding DL besides PI-RADS. One thousand six hundred twenty-seven consecutive examinations from 2014 to 2021 were included in this retrospective single-center study, including 517 exams withheld for RC testing. Board-certified radiologists assessed PI-RADS during clinical routine, then systematic and MRI/Ultrasound-fusion biopsies provided histopathological ground truth for significant prostate cancer (sPC). nnUNet-based DL ensembles were trained on biparametric MRI predicting the presence of sPC lesions (UNet-probability) and a PI-RADS-analogous five-point scale (UNet-Likert). Previously published RCs were validated as is; with PI-RADS substituted by UNet-Likert (UNet-Likert-substituted RC); and with both UNet-probability and PI-RADS (UNet-probability-extended RC). Together with a newly fitted RC using clinical data, PI-RADS and UNet-probability, existing RCs were compared by receiver-operating characteristics, calibration, and decision-curve analysis. Diagnostic performance remained stable for UNet-Likert-substituted RCs. DL contained complementary diagnostic information to PI-RADS. The newly-fitted RC spared 49% [252/517] of biopsies while maintaining the negative predictive value (94%), compared to PI-RADS ≥ 4 cut-off which spared 37% [190/517] (p < 0.001). Incorporating DL as an independent diagnostic marker for RCs can improve patient stratification before biopsy, as there is complementary information in DL features and clinical PI-RADS assessment. For patients with positive prostate screening results, a comprehensive diagnostic workup, including prostate MRI, DL analysis, and individual classification using nomograms can identify patients with minimal prostate cancer risk, as they benefit less from the more invasive biopsy procedure. The current MRI-based nomograms result in many negative prostate biopsies. The addition of DL to nomograms with clinical data and PI-RADS improves patient stratification before biopsy. Fully automatic DL can be substituted for PI-RADS without sacrificing the quality of nomogram predictions. Prostate nomograms show cancer detection ability comparable to previous validation studies while being suitable for the addition of DL analysis.

Zinc Toxicity: Understanding the Limits.

Zinc, a vital trace element, holds significant importance in numerous physiological processes within the body. It participates in over 300 enzymatic reactions, metabolic functions, regulation of gene expression, apoptosis and immune modulation, thereby demonstrating its essential role in maintaining overall health and well-being. While zinc deficiency is associated with significant health risks, an excess of this trace element can also lead to harmful effects. According to the World Health Organization (WHO), 6.7 to 15 mg per day are referred to be the dietary reference value. An excess of the recommended daily intake may result in symptoms such as anemia, neutropenia and zinc-induced copper deficiency. The European Food Safety Authority (EFSA) defines the tolerable upper intake level (UL) as 25 mg per day, whereas the Food and Drug Administration (FDA) allows 40 mg per day. This review will summarize the current knowledge regarding the calculation of UL and other health risks associated with zinc. For example, zinc intake is not limited to oral consumption; other routes, such as inhalation or topical application, may also pose risks of zinc intoxication.

Risk Stratification, Intention to Fast, and Outcomes of Fasting During Ramadan in People With Diabetes Presenting to a Tertiary Care Hospital

ObjectiveThe objectives of this study were to evaluate the stratification of people with diabetes mellitus (DM) based on the International Diabetes Federation–Diabetes and Ramadan 2021 risk calculator into different risk categories and assess their intentions to fast and outcomes of fasting during the holy month of Ramadan. MethodsThis was a 3-month prospective study that was performed from February 9, 2023, to May 6, 2023 (6 weeks before Ramadan until 6 weeks after Ramadan), at a tertiary care hospital in Pakistan. Data regarding glycemic control, characteristics and complications of diabetes, comorbidities, and the various factors that influence fasting were gathered from patients of either sex aged 18 to 80 years with any type of diabetes. The International Diabetes Federation–Diabetes and Ramadan 2021 risk calculation and recommendation were made accordingly for each patient. ResultsThis study comprised of 460 participants with DM, with 174 males (37.8%) and 286 females (62.2%). The risk categorization showed that 209 (45.4%), 107 (23.3%), and 144 (31.3%) of the participants were in the low-, moderate-, and high-risk categories, respectively. Of the 144 high-risk patients who fasted, 57.9% experienced hypoglycemia (P <.0001). The recommendation of fasting showed statistically significant differences with risk categories, intention to fast, hypoglycemia, type of DM, duration of DM, level of glycemic control, and days of fasting (P <.001). ConclusionA statistically significant number of participants in the high-risk group who fasted experienced complications. This reiterates the importance of rigorous adherence to the medical recommendations.