Screening Of Individuals Research Articles

Digit-in-Noise Test as a Hearing Screening Test for Individuals With Intellectual Disability.

Diagnosis of intellectual disability (ID) may overshadow, or co-occur with, hearing impairment, but screening is frequently inaccessible due to various factors that prevent successful test execution. There is a pressing need for easily, locally administered hearing tests. This study aimed to assess the efficacy of the digit-in-noise (DIN) test, as well as three variations of it, as a hearing screening for individuals with mild to moderate ID. Additionally, we explored correlations between participant characteristics and cognitive-linguistic abilities, with DIN test performance. Forty participants with ID aged 21-40 were recruited from two supported employment centres, 31 of whom met full inclusion criteria. Controls were 20 typically developed (TD) participants, aged 21-40. The original DIN test (DIN(3)) was administered, and those unable to recall the three digits were administered a version with two digits (DIN(2)). Participants unable to successfully complete DIN(3) or DIN(2) were administered versions with added visual and verbal performance feedback. A significant difference in speech receptive threshold in noise (SRTn) between DIN(2) and DIN(3) was only present for the ID group. A moderate negative relationship between DIN(2) SRTn and vocabulary and a positive relationship with age was found for the ID group; no correlation was found with digit span or matrices. The DIN(2) SRTn was correlated with the average hearing level of pure tones measured by audiometry. Our findings highlight the DIN(2) as the most effective version, as its signal-to-noise ratio (SRTn) threshold was closest to the typically developed (TD) control group. This study is the first step towards developing a hearing screening test for individuals with ID who are at elevated risk of impairment and who have insufficient evaluation access. Our findings suggest that adults with mild to moderate ID can sufficiently perform the adapted DIN(2) as a hearing screening test.

The Association Between Traumatic Brain Injury and the Risk of Cognitive Decline: An Umbrella Systematic Review and Meta-Analysis

Background: There is currently increasing interest in the implication of traumatic brain injury (TBI) as a potential risk factor for long-term neurodegenerative conditions, such as dementia and Alzheimer’s disease (AD). In this context, we performed a systematic review and meta-analysis to evaluate the association between TBI and the risk of dementia. Methods: A systematic search was performed across multiple electronic databases, including PubMed, Embase, and Cochrane Library, to identify relevant meta-analyses and cohort studies. Studies were included if they reported effect sizes (odds ratios [ORs] or relative risks [RRs]) for the association between TBI, its severity, and the risk of dementia or AD. Meta-analyses were performed using random-effects models to account for heterogeneity, and sensitivity analyses were conducted. Results: A total of six studies were included in the analysis. The pooled results showed that TBI significantly increases the risk of dementia, with an overall odds ratio of 1.81 (95% CI: 1.53–2.14). Mild TBI was associated with a modest increase in dementia risk (OR = 1.96, 95% CI: 1.70–2.26), while moderate-to-severe TBI showed a stronger association (OR = 1.95, 95% CI: 1.55–2.45). In contrast, the association between TBI and AD was less consistent, with the pooled OR for AD being 1.18 (at 95% CI: 1.11–1.25) for mild TBI; however, in several studies, no significant association was observed (OR = 1.02, 95% CI: 0.91–1.15). The results also indicated substantial heterogeneity across studies, particularly in relation to AD outcomes. Conclusions: The findings from this umbrella meta-analysis confirm that TBI is a significant risk factor for dementia, with more severe TBIs conferring a higher risk. While mild TBIs also increase the risk of dementia, the effect is more pronounced in moderate-to-severe injuries. The evidence linking TBI to AD is less robust, with inconsistent findings across studies. Clinicians should consider long-term cognitive screening and management for individuals with a history of TBI, particularly those with moderate-to-severe injuries.

A comparison of comorbidities and their risk factors prevalence across rheumatoid arthritis, psoriatic arthritis and axial spondyloarthritis with focus on cardiovascular diseases: data from a single center real-world cohort

Management of comorbidities is essential to a patient-centered approach to the treatment of chronic inflammatory arthritis. The aim of this study was to compare the prevalence of comorbidities and their risk factors in rheumatoid arthritis (RA), psoriatic arthritis (PsA), and axial spondyloarthritis (axSpA) in a single center outpatient cohort. This cross-sectional study included adult patients diagnosed with RA, PsA, and axSpA from a single rheumatology outpatient center. Comorbidities were documented by physicians, and patients were categorized into two age groups, younger (< 45 years) and older (≥ 45 years), with age- and gender-based comparisons. Disease activity, comorbidities, and cardiovascular (CV) risk factors were analyzed using chi-squared tests for categorical variables and independent samples t-tests for continuous variables, with p values < 0.05 considered statistically significant. Comorbidities were registered by physicians using GoTreatIt® Rheuma software. Among 508 RA, 267 PsA, and 285 axSpA patients, the four most common comorbidities were hypertension (36.4%, 25.1%, and 19.7%, respectively), dyslipidemia (19.5%, 15.4%, 14.7% respectively), obesity (16.9%, 22.5%, 14% respectively) and thyroid disease (21.5%, 13.9%, 11.2% respectively). Other comorbidities differed among the diseases and included osteoporosis, osteoarthritis, diabetes mellitus, arrhythmia, and asthma in RA, diabetes mellitus, depression and asthma in PsA, osteoporosis and serious infection in axSpA. RA patients, compared to axSpA had a higher prevalence of coronary artery disease (4.1% vs. 0.7%, p = 0.006), arrhythmia (6.9% vs. 2.5%, p = 0.008) and major adverse cardiac events (2.6% vs. 0.4%, p = 0.024) compared to axSpA. Osteoporosis was more frequent in RA (19.1%) and axSpA (8.4%) than in PsA (2.3%; p < 0.001) and was frequently diagnosed in patients aged < 45. Depression prevalence was surprisingly low (1.6%, 5.2%, and 1.8%, respectively). RA patients had the highest multimorbidity rate, with 26.6% reporting three or more comorbidities, compared to 16.8% in PsA and 10.6% in axSpA (p < 0.001). Health status was poorest in RA and worse in women compared to men for all diseases. RA, PsA, and axSpA share the same four most common comorbidities: hypertension, dyslipidemia, obesity, and thyroid disease but have different prevalence of other disorders and CV risk factors, indicating the need for an individual screening and prevention approach. The possible unrecognition of depression should be evaluated.

Adopting Non-invasive Approaches into Precision Colorectal Cancer Screening.

Effective screening is essential to reducing CRC incidence and mortality by detecting the disease at early stages and identifying non-invasive precursors. While colonoscopy remains the most sensitive modality to visualize and remove neoplastic lesions thereby reducing CRC and the related death, its high cost and invasive nature limit its widespread use. The fecal immunochemical test (FIT), which offers a non-invasive alternative with higher public acceptance and comparable cost-effectiveness to colonoscopy, has become the preferred screening method in many regions. Newer non-invasive tests, such as multitarget stool DNA or RNA tests, have shown improved sensitivity for CRC and advanced adenomas, although their high costs and lower specificity present challenges for large-scale implementation. Blood-based circulating cell-free DNA test also offer promise but still require optimization to be cost-effective. The heterogeneity of the screening population further complicates the effectiveness of CRC screening programs. Variations in non-communicable disease risk factors, such as metabolic syndrome, lifestyle habits, and comorbidities, can significantly influence CRC risk and screening outcomes. Moreover, diverse screening behaviors, including inconsistent adherence to recommended screening intervals and the interchangeable use of different screening modalities, add complexity to achieving uniform effectiveness across populations. This variability underscores the need for personalized screening strategies that consider individual risk profiles and screening behaviors, as well as the application of cutting-edge technologies such as big data analytics, artificial intelligence, and digital twin approaches to evaluate its effectiveness. This article reviews the current CRC screening strategies, the advantages of non-invasive methods, and the potential of fecal hemoglobin concentration, to tailor screening intervals and improve risk stratification. It also discusses the emerging role of real-world data and advanced technologies in enhancing CRC screening accuracy and effectiveness, particularly in complex real-world scenarios where traditional methods may fall short. Before novel non-invasive approaches, such as ctDNA tests or polygenic risk scores, are validated and proven cost-effective, exploring the clinical utility of FIT and its quantitative measurement in both screening and surveillance by integrating real-world clinical big data seems a feasible direction for achieving sustained development in population screening.

Risk Score for Hepatocellular Cancer in Adults Without Viral Hepatitis or Cirrhosis

Hepatocellular carcinoma (HCC) is typically detected only at advanced stages when treatment options are limited. Most of the current HCC risk models focus on patients with viral hepatitis or diagnosed cirrhosis or require variables not routinely available in clinical care. To identify modifiable HCC risk factors in the general population and to develop a risk score to inform HCC screening and risk-factor modification interventions for high-risk individuals without viral hepatitis or decompensated cirrhosis. This cohort study analyzed demographic, clinical, laboratory, and diagnostic data from the US Department of Veterans Affairs (VA) electronic health records. Data were divided into development and validation samples. Veterans aged 30 to 95 years were included, and those with hepatitis B or C virus infection, hepatic decompensation, or prevalent HCC were excluded. Patients were followed up until the occurrence of HCC diagnosis, death, or December 31, 2021. A Cox proportional hazards regression model for 10-year risk of HCC was developed and used to create an HCC risk score, and performance in development and validation samples and in patient subgroups was evaluated. One outpatient visit date per person at least 18 months after VA entry, between October 1, 2007, and March 31, 2020, was randomly selected and used as the index date for the start of follow-up. Analyses were performed from March 2023 to May 2024. Age, sex, race and ethnicity, body mass index, liver fibrosis (detected with Fibrosis-4 Index [FIB-4]), diabetes status, smoking status, and alcohol use. First HCC diagnosis during follow-up. This information was ascertained from VA national cancer registry topography and histology codes and from International Classification of Diseases, Ninth Revision and International Statistical Classification of Diseases, Tenth Revision, Clinical Modification diagnosis codes for the inpatient or outpatient visits. This study of 6 509 288 veterans included 6 048 917 males (92.9%), with a median (IQR) age of 65 (54-74) years, who identified as being of Hispanic (5.3%), non-Hispanic Black (15.0%), non-Hispanic White (68.9%), or other (4.6%) race and ethnicity. Overall, 15 142 patients (0.2%) developed HCC, 69.5% of whom had FIB-4 of 3.25 or lower at baseline. While FIB-4 was the most important variable, age, sex, race and ethnicity, body mass index, diabetes, smoking, and alcohol use were also informative. Discrimination in the development sample was better than FIB-4 alone (C statistic, 0.83 [95% CI, 0.82-0.85] vs 0.79 [95% CI, 0.77-0.80]). The HCC risk score performed consistently well in the validation sample and in all subgroups. A FIB-4 threshold of 3.25 would screen 5.0% of the cohort at a cost of 28 false-positives for every true-positive; a model risk score of 58 would screen 4.7% of the cohort at a cost of 23 false-positives for every true-positive. Results of this study suggest that a multivariable risk score that uses routinely available clinical data outperforms FIB-4 alone in identifying patients at risk of HCC who do not have viral hepatitis or hepatic decompensation at baseline.

Multidimensional Healthcare Access Barriers to Prostate-Specific Antigen Testing: A Nation-Wide Panel Study in the United States From 2006 to 2020.

Rising metastatic prostate cancer incidence has renewed debate regarding benefits of prostate-specific antigen (PSA) screening. Identifying barriers to accessing screening for individuals at high risk of lethal prostate cancer may slow this rise. We examined associations of access barriers with receipt of PSA testing, stratified by sociodemographic factors. We pooled data from male respondents to Behavior Risk Factor Surveillance Systems (BRFSS) surveys from 2006 to 2020. Questions related to affordability (insurance, cost of visits) and accommodation (regular primary care provider (PCP), physician recommending a PSA test) were considered as individual-level barriers. For availability, we linked provider density from the 2012 Area Health Resource File and estimated driving times to closest health facility within Micropolitan and Metropolitan Statistical Area (MMSA) using Google Earth Engine. These measures were used to compute a spatial accessibility index. We fit survey-weighted, covariate-adjusted logistic regression models to estimate associations of barriers with receipt of PSA within the past 2 years and examined effect modification by sociodemographic factors. There were 185,643 participants, of whom 73% were White, 11% were Black, 4% were Asian, and 11% were Hispanic. Physician recommendation was the strongest predictor of having a PSA test (aOR: 14.5, 95% CI: 13.6, 15.6). Not having a regular PCP (aOR: 0.29, 95% CI: 0.27, 0.31), insurance (aOR: 0.64, 95% CI: 0.58, 0.71), and prohibitive cost of care (aOR: 0.82, 95% CI: 0.75, 0.90) were associated with lower PSA testing. Access barriers were stronger predictors of PSA testing for Asian and White participants compared to other groups (Phet < 0.004 for insurance and regular PCP) and for those with college education compared to those without (Phet < 0.05 for insurance, perceived unaffordability). Physician recommendation was the strongest predictor of receipt of PSA testing, regardless of sociodemographic grouping. Future studies should consider access barriers jointly and across sociodemographic strata.

Combination Diagnostics: Adding Blood-Based ctDNA Screening to Low-Dose CT Imaging for Early Detection of Lung Cancer.

Annual low-dose CT screening of individuals with a smoking history identifies early curable lung tumors and reduces cancer mortality by 20%, yet only a minority of eligible patients undergo such monitoring. Mazzone and colleagues apply a blood-based cfDNA fragmentomic assay as a high-sensitivity/low-specificity pre-screen to help stratify individuals who may benefit most from more definitive low-dose CT imaging. See related article by Mazzone et al., p. 2224.

Four Models of Wastewater-Based Monitoring for SARS-CoV-2 Complementing Individual Screening in Jail Settings.

Objectives. To describe 4 unique models of operationalizing wastewater-based surveillance (WBS) for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in jails of graduated sizes and different architectural designs. Methods. We summarize how jails of Cook County, Illinois (average daily population [ADP] 6000); Fulton County, Georgia (ADP 3000); Middlesex County, Massachusetts (ADP 875); and Washington, DC (ADP 1600) initiated WBS between 2020 and 2023. Results. Positive signals for SARS-CoV-2 via WBS can herald a new onset of infections in previously uninfected jail housing units. Challenges implementing WBS included political will and realized value, funding, understanding the building architecture, and the need for details in the findings. Conclusions. WBS has been effective for detecting outbreaks of SARS-CoV-2 in different sized jails, those with both dorm- and cell-based architectural design. Public Health Implications. Given its effectiveness in monitoring SARS-CoV-2, WBS provides a model for population-based surveillance in carceral facilities for future infectious disease outbreaks. (Am J Public Health. 2024;114(11):1232-1241. https://doi.org/10.2105/AJPH.2024.307785).

Long-term cardiovascular events in individuals hospitalised with COVID-19: a retrospective cohort

Abstract Background The post-COVID condition involves a range of persistent or new symptoms affecting various organs, including an increased risk of cardiovascular issues. As there are limited data on cardiovascular events in post-acute COVID-19 patients, we aimed to estimate their incidence and assess its association with patient and infection characteristics in Portugal. Methods We conducted a registry-based retrospective cohort study from seven hospitals across Portugal, including individuals hospitalised due to COVID-19 between March 2020 and March 2021. Our outcome of interest was cardiovascular events in the post-acute phase of COVID-19, occurring at least 30 days after the positive SARS-CoV-2 test. The variables of interest considered were the severity of the episode, existing cardiovascular risk and vaccination status before the SARS-CoV-2 test. Person-years and incidence rates were estimated. A Cox proportional hazard regression model was employed to assess risk factors. Results We included 1,803 patients in the analysis, of which 143 (7.9%) experienced at least one cardiovascular event following COVID-19 hospitalisation. The overall incidence rate of having at least one cardiovascular event was 34.65 per 1,000 person-years (95% confidence interval (CI): 29.20; 40.82). We found a higher risk of cardiovascular events for individuals with pre-existing cardiovascular risk (adjusted hazard ratio (aHR): 3.76, 95% CI: 1.53; 9.24) and lower risk for individuals with at least one vaccine dose before the SARS-CoV-2 test (partial - aHR: 0.44, 95%CI: 0.30; 0.64, complete - aHR: 0.46, 95%CI: 0.2; 0.80). We did not find a significant difference between the severity of the COVID-19 episode and the risk of having cardiovascular events post-COVID-19. Conclusions Our results indicate the presence of cardiovascular complications post-COVID-19, emphasising the need for healthcare systems to initiate screening and preventive strategies for individuals deemed at elevated risk. Key messages • COVID-19 vaccination decreases the risk of cardiovascular events post-COVID-19. • Healthcare systems should start screening and preventive strategies for individuals with pre-existing risk of cardiovascular events.

Healthcare workers’ experience of screening older adults in emergency care settings: a qualitative descriptive study using the Theoretical Domains Framework

BackgroundIn emergency care settings, screening for disease or risk factors for poor health outcomes among older adults can identify those in need of specialist and early intervention. The aim of this study was to identify barriers and facilitators to implementing older person-centred screening in emergency care settings in the Mid-West of Ireland.MethodsThis study employed a qualitative descriptive design underpinned by the theoretical domains framework (TDF). This design informs implementation strategy by establishing a theoretical foundation for focused objectives. One on one semi-structured interviews were conducted with a purposive sample of healthcare workers (HCWs) to explore their screening experiences with older adults in emergency care settings. Information power guided sample size calculation. In data analysis, verbatim interview transcripts were deductively mapped to TDF constructs forming meta-themes that revealed specific barriers and facilitators to person-centred screening for older individuals. These findings will directly inform implementation strategies.ResultsThree themes were identified; Preconditions to Implementing Older Person-Centred Screening; Knowledge and Skills Required to Implement Older Person-centred Screening and Motivation to Deliver Older Person-Centred Screening. Overall, screening in emergency care settings is a complicated process which is ideally undertaken by knowledgeable and skilled practitioners with a keen awareness of team dynamics and environmental challenges in acute care settings. These practitioners serve as champions and sources of specialist knowledge and practice. Less experienced clinicians seek supervision and support to undertake screening competently and confidently. Education on frailty and aged related syndromes facilitates screening uptake. Recognition of the value of screening is a clear motivator and leadership is vital to sustain screening practices.ConclusionsScreening serves as an entry point for specialist intervention, necessitating a specialist multidisciplinary team (MDT) approach for effective implementation in emergency care settings. Strengthening screening practices for older adults who attend emergency care settings involves employing audit, supervision and tailored supports. Skilled and experienced practitioners play a key role in mentoring and supporting the broader MDT in screening engagement. Long-term and sustainable implementation relies on utilising existing managerial, practice development and educational resources to underpin screening practices. Communication between Emergency Department (ED) staff, the specialist team and wider geriatric team is vital to ensure a cohesive approach to delivering older person-centred care in the ED.

Socioeconomic deprivation and atrial fibrillation risk: an observational and gene-environment interaction analysis

Abstract Background The association between socioeconomic deprivation and incident atrial fibrillation (AF) is debated, along with limited evidence on how genetic predisposition to AF interacts with socioeconomic deprivation and AF risk. Purpose To evaluate the association and gene-environmental interaction between socioeconomic deprivation and the risk of incident AF. Methods From the UK Biobank prospective cohort, we selected participants who were free from previous AF. Participants with missing values and those who did not pass the genetic quality control were excluded. As an indicator of socioeconomic deprivation, we utilised the indices of multiple deprivation (IMD), which is calculated from scores of multiple socioeconomic factors, including crime, education, employment, health, housing, income, and living environment. Participants were divided into 3 groups by IMD; the top 20% as high IMD (most deprived), the bottom 20% as low IMD, and 20-80% as mid IMD. Using a polygenic risk score (PRS) for AF generated using a Bayesian approach applied to external genome-wide association study data, the interaction between genetic risk and socioeconomic deprivation was assessed. The primary endpoint was incident AF during a median of 13.7 years of follow-up. Results A total of 377,386 (aged 56.5±8.1 years, 45.2% male) were analysed. The high IMD group (n=85,108) was younger and had a higher proportion of comorbidities than the mid or low-IMD groups. An increase in IMD as a continuous variable was significantly associated with an increased risk of incident AF. The high IMD group showed a significantly increased risk of AF (multivariable-adjusted hazard ratio [aHR]=1.12, 95% confidence interval=1.07-1.17, P&amp;lt;0.001) compared with the low IMD group (incidence rate 7.7 vs. 4.8/1,000 person-year). All components of IMD except housing score significantly increased the risk of incident AF (aHR ranged from 1.07 to 1.15). Within each IMD group, higher AF PRS groups were significantly associated with an increased risk of incident AF with the low AF PRS group as a reference, showing aHRs of 1.50 for mid-PRS and 2.57 for high-PRS in the low IMD group, 1.60 and 2.65 in the mid-IMD group, and 1.55 and 2.33 in the high IMD group, respectively (all P&amp;lt;0.001). The impact of socioeconomic deprivation was attenuated in participants with high AF PRS (P for interaction=0.042), mainly driven by the interaction effect of crime (P for interaction [Pi]=0.005), employment deprivation (Pi=0.005), and health deprivation scores (Pi=0.043). Conclusion Socioeconomically deprived individuals had a significantly higher risk of AF, and the effect was partially modified by genetic predisposition to AF. A personalised approach to applying AF screening for high-risk individuals may be more efficacious. Legal measures and policies to enhance public health by alleviating socioeconomic inequalities are needed to mitigate AF risk and improve cardiovascular health outcomes.

Exploring the diagnostic yield of family screening and genetic testing in adolescent individuals with pre-clinical phenotypes

Abstract Introduction Family screening and genetic testing are key components in the management strategy of individuals diagnosed with an inherited cardiac condition (ICC). Disease penetrance for most ICCs, notably cardiomyopathies is age dependent, which is why a more permissive approach towards family screening is adopted in young individuals with a pre-clinical phenotype. Study Objectives The main objective of this study was to explore the role of family screening and genetic testing in adolescent subjects with a pre-clinical phenotype has not been formally explored. Methodology Adolescent probands with a pre-clinical phenotype following a national cardiac screening program (BEAT-IT) were offered genetic testing and family screening. Probands with anterior TWI were rescreened at 16 years. Only those with persistent changes were enrolled in the study. Genetic counselling was also offered to probands and relatives. Testing was initially offered to first degree relatives. Cascade testing (clinical and genetic) was also offered to other generations if a screened relative satisfied one or more of these conditions i) phenotype positive, ii) pre-clinical phenotype, iii) clinically relevant genotype. Results 16 probands (mean age 15 years) were identified with a pre-clinical phenotype. All had an abnormal ECG (9=inferior/lateral TWI, 6=anterior TWI, 1=ST depression). A comprehensive evaluation was otherwise normal. Half were gene positive (G+), 4 had clinically relevant genotypes (n=4 inferior/lateral TWI). These were classified as likely pathogenic according to ACMG criteria (n=2 MYH7, n=1 ACTC1, n=1 MYBPC3). 71 family members were subsequently screened (59.2% female, median 43Y [IQR 27] at evaluation, 11.3% &amp;lt;18Y at evaluation, 67.6% first degree relatives). A substantial proportion (n=13, 18.3%) were referred for further evaluation. Two (2/8, 25.0%) were &amp;lt;18Y. An abnormal ECG was the commonest reason for referral (n=9, 12.7%). Three (4.2%) were given a diagnosis (n=2 HCM [both MYH7}, n=1 DCM [ACTC1]). Seven (9.9%) were referred because of an abnormal ECG (n=3 inferolateral TWI, n=2 ventricular ectopics, n=1 anterolateral TWI, n=1 ST depression). Four were G+ and were offered surveillance. Fourteen (19.7%) were offered family screening because of incorporating genetic testing into the study protocol. Genetics altered the evaluation strategy in 16.9% of screened relatives. More in-depth cascade testing identified 6 (8.5%) individuals who needed follow-up (n=1 diagnosis [DCM], n=1 abnormal ECG, n=4 G+). Gene negative individuals (6, 8.5%) were safely reassured and discharged. Conclusion Family screening in adolescent probands with pre-clinical phenotypes offers a reasonable diagnostic yield (4.2% diagnosis, 14.1% surveillance). Incorporating genetic testing into the evaluation protocol offers a more personalized strategy, altering management in a significant proportion of screened relatives (16.9%).

A 16-year evaluation of opportunistic lung cancer screening with low-dose CT in China: comparative findings between non-smokers and smokers

BackgroundAlthough low-dose computed tomography (LDCT) screening effectively reduces LC mortality in high-risk individuals with a history of smoking in China, the feasibility and efficacy of lung cancer screening (LCS) in individuals who never smoked versus individuals who smoked remains unclear.MethodsWe conducted a retrospective analysis of prospective cohort studies at the National Cancer Center (NCC) in China from January 2006 to December 2022. A comprehensive LCS initiative was undertaken, involving 30,468 participants (54.5% male). Participants underwent LCS using LDCT. Potential malignancies were managed through joint consensus between patients and their physicians. Epidemiology, screening eligibility criteria, and LC detection rates and survival outcomes were compared between individuals who smoked and individuals who never smoked.ResultsAmong 30,468 participants, 339 LCs were pathologically confirmed in 289 patients. The LC detection rate was 0.9% (289/30,468) overall, 0.8% in individuals who smoked (71/9,042), and 1.0% in individuals who never smoked (218/21,426). In individuals who smoked, LC detection rates were 0.5% (21/4516) and 1.1% (50/4526) in the < 20 and ≥ 20 pack-year subgroups, respectively (P = 0.001). Early-stage LC (stage 0 or I) was detected in 73.8% of the individuals who smoked and in 78.8% of individuals who never smoked, while advanced LC (stage III–IV) was found 8.8% of individuals who smoked and 4.2% of individuals who never smoked, respectively. Significant differences in histologic types were found between individuals who smoked and individuals who never smoked (P = 0.01), although adenocarcinoma was the most prevalent in both groups, at 83.0% and 78.8%, respectively. The median nodule size was 9.9 mm (IQR, 8.0–13.8) in individuals who smoked and 9.2 mm (IQR, 6.8–13.6) in individuals who never smoked (P = 0.228). Individuals who never smoked tended to favour surgical treatment alone (88.0%) more than individuals who smoked (81.3%). The 10-year survival rate was higher in individuals who never smoked (92.6%) than in individuals who smoked (88.8%). Only 15.6% (45/289) of patients with LC met the United States Preventive Services Task Force (USPSTF) criteria for LDCT eligibility, while 29.0% (84/289) met the China guideline for the screening and early detection of lung cancer (CGSL) criteria. Median follow-up for those followed was 25.4 (IQR, 13.7–43.3) months.ConclusionsLDCT screening improves early LC detection and treatment outcomes for both individuals who smoked and individuals who never smoked. Significant differences exist in epidemiology, histologic type, and survival between these groups. The USPSTF and CGSL criteria miss a significant number of LC cases, particularly among individuals who never smoked. Integrating individuals who never smoked into LCS programs is essential, yet it comes with its own challenges, such as managing radiation risks, allocating resources effectively, and considering financial aspects. Consequently, there is an urgent need for LCS programs in China to better identify the “high-risk” non-smoker population susceptible to LC and to ensure that potential risks associated with screening are reduced.

Different risk and protective factors predict change of planning ability in middle versus older age

Age-related cognitive decline has become an increasingly relevant public health issue. However, risk and protective factors of cognitive decline have yet to be investigated prospectively taking into account genetic, lifestyle, physical and mental health factors. Population-based data from middle-aged (40 to 59 years; N = 2,764) and older individuals (60 to 80 years; N = 1,254) were drawn from a prospective community cohort study using the Tower of London (TOL) planning task. Assessments were repeated at a 5-year interval to investigate age-related changes in planning performance and to determine the impact of risk and protective factors. Planning performance improved in middle-aged, but declined in older participants over 5 years. SNPs affecting the dopamine system (COMT, DRD2) and APOE polymorphisms differentially predicted cognitive performance in older vs. middle-aged individuals. For older individuals, high alcohol consumption, antidepressant medication and living without a partner had additional negative predictive power on cognition. In contrast, undiagnosed hypertension, no obstructive lung disease, and fewer years of education predicted cognitive decline in the middle-aged group. The results inform screening for individuals particularly vulnerable to cognitive decline and interventions (e.g., focusing on lifestyle factors) to help maintain cognitive performance into old age.

Pathogenesis and Clinical Characteristics of Hereditary Arrhythmia Diseases.

Hereditary arrhythmias, as a class of cardiac electrophysiologic abnormalities caused mainly by genetic mutations, have gradually become one of the most important causes of sudden cardiac death in recent years. With the continuous development of genetics and molecular biology techniques, the study of inherited arrhythmias has made remarkable progress in the past few decades. More and more disease-causing genes are being identified, and there have been advances in the application of genetic testing for disease screening in individuals with disease and their family members. Determining more refined disease prevention strategies and therapeutic regimens that are tailored to the genetic characteristics and molecular pathogenesis of different groups or individuals forms the basis of individualized treatment. Understanding advances in the study of inherited arrhythmias provides important clues to better understand their pathogenesis and clinical features. This article provides a review of the pathophysiologic alterations caused by genetic variants and their relationship to disease phenotypes, including mainly cardiac ion channelopathies and cardiac conduction disorders.

Utilizing Attention-Enhanced Deep Neural Networks for Large-Scale Preliminary Diabetes Screening in Population Health Data

Early screening for diabetes can promptly identify potential early stage patients, possibly delaying complications and reducing mortality rates. This paper presents a novel technique for early diabetes screening and prediction, called the Attention-Enhanced Deep Neural Network (AEDNN). The proposed AEDNN model incorporates an Attention-based Feature Weighting Layer combined with deep neural network layers to achieve precise diabetes prediction. In this study, we utilized the Diabetes-NHANES dataset and the Pima Indians Diabetes dataset. To handle significant missing values and outliers, group median imputation was applied. Oversampling techniques were used to balance the diabetes and non-diabetes groups. The data were processed through an Attention-based Feature Weighting Layer for feature extraction, producing a feature matrix. This matrix was subjected to Hadamard product operations with the raw data to obtain weighted data, which were subsequently input into deep neural network layers for training. The parameters were fine-tuned and the L2 regularization and dropout layers were added to enhance the generalization performance of the model. The model’s reliability was thoroughly assessed through various metrics, including the accuracy, precision, recall, F1 score, mean squared error (MSE), and R2 score, as well as the ROC and AUC curves. The proposed model achieved a prediction accuracy of 98.4% in the Pima Indians Diabetes dataset. When the test dataset was expanded to the large-scale Diabetes-NHANES dataset, which contains 52,390 samples, the test precision of the model improved further to 99.82%, with an AUC of 0.9995. A comparative analysis was conducted using multiple models, including logistic regression with L1 regularization, support vector machine (SVM), random forest, K-nearest neighbors (KNNs), AdaBoost, XGBoost, and the latest semi-supervised XGBoost. The feature extraction method using attention mechanisms was compared with the classical feature selection methods, Lasso and Ridge. The experiments were performed on the same dataset, and the conclusion was that the Attention-based Ensemble Deep Neural Network (AEDNN) outperformed all the aforementioned methods. These results indicate that the model not only performs well on smaller datasets but also fully leverages its advantages on larger datasets, demonstrating strong generalization ability and robustness. The proposed model can effectively assist clinicians in the early screening of diabetes patients. This is particularly beneficial for the preliminary screening of high-risk individuals in large-scale, extensive healthcare datasets, followed by detailed examination and diagnosis. Compared to the existing methods, our AEDNN model showed an overall performance improvement of 1.75%.

Cancer Prevention in Adults with Intellectual Disabilities: A Systematic Literature Review of Caregiver Perspectives in Institutional and Home Care Settings.

Background: Individuals with intellectual disabilities (IDs) face unique challenges in accessing cancer prevention measures. Caregivers play a crucial role in facilitating these measures, yet their perspectives are under-researched. Methods: This systematic literature review explores caregiver perspectives on cancer prevention for adults with IDs in institutional and home care settings, aiming to understand their roles, knowledge, and challenges. Thirteen articles from the UK, the USA, Canada, and Ireland were analyzed through thematic synthesis. Four overarching themes were identified: breast cancer screening perspectives, caregivers' knowledge and barriers to cancer prevention, caregivers' perspectives, and cultural context and decision-making. Results: Caregivers, including healthcare professionals and family members, are essential in facilitating breast cancer screening for individuals with IDs. Challenges include explaining screening procedures, limited awareness, and logistical barriers, highlighting the need for targeted educational interventions. Disparities in access underscore the necessity for comprehensive training programs. Healthcare professionals' perspectives reveal existing disparities and suggest interventions for improved accessibility and understanding. Cultural context influences decision-making, emphasizing the importance of culturally sensitive care. The role of family caregivers in decision-making necessitates empowering and supporting them through tailored interventions. Conclusions: This review provides insights into the challenges and opportunities in cancer prevention for individuals with IDs, suggesting the need for educational interventions, training programs, and systemic changes to address disparities. It lays the groundwork for future research and the development of holistic and inclusive strategies in this critical healthcare domain.

Promise and Peril of a Genotype-First Approach to Mendelian Cardiovascular Disease.

Precision medicine, which among other aspects includes an individual's genomic data in diagnosis and management, has become the standard-of-care for Mendelian cardiovascular disease (CVD). However, early identification and management of asymptomatic patients with potentially lethal and manageable Mendelian CVD through screening, which is the promise of precision health, remains an unsolved challenge. The reduced costs of genomic sequencing have enabled the creation of biobanks containing in-depth genetic and health information, which have facilitated the understanding of genetic variation, penetrance, and expressivity, moving us closer to the genotype-first screening of asymptomatic individuals for Mendelian CVD. This approach could transform health care by diagnostic refinement and facilitating prevention or therapeutic interventions. Yet, potential benefits must be weighed against the potential risks, which include evolving variant pathogenicity assertion or identification of variants with low disease penetrance; costly, stressful, and inappropriate diagnostic evaluations; negative psychological impact; disqualification for employment or of competitive sports; and denial of insurance. Furthermore, the natural history of Mendelian CVD is often unpredictable, making identification of those who will benefit from preventive measures a priority. Currently, there is insufficient evidence that population-based genetic screening for Mendelian CVD can reduce adverse outcomes at a reasonable cost to an extent that outweighs the harms of true-positive and false-positive results. Besides technical, clinical, and financial burdens, ethical and legal aspects pose unprecedented challenges. This review highlights key developments in the field of genotype-first approaches to Mendelian CVD and summarizes challenges with potential solutions that can pave the way for implementing this approach for clinical care.

Elevated Urinary Levels of Fungal and Environmental Toxins in Patients with Pancreatic Ductal Adenocarcinoma

BackgroundRisk factors for pancreatic ductal adenocarcinoma (PDAC) include tobacco/alcohol abuse, genetic predisposition, insulin resistance, and pancreatic cysts. Despite these well-established risk factors and the screening of high-risk individuals, some people still develop PDAC. This study aims to explore a potential risk factor for PDAC by investigating the association between fungal toxins (FT) and environmental toxins (ET) and the disease. We predicted that individuals with PDAC would have higher levels of these toxins compared to healthy controls. The rationale behind this hypothesis is that exposure to FT and ET might contribute to the development of PDAC by elevating cancer risk.MethodsA pilot retrospective cohort study was conducted at Moffitt Cancer Center from 2022 to 2023. This study compared FT and ET levels, demographic data, and PDAC features between subjects with PDAC and healthy controls.ResultsForty subjects were enrolled in the study, comprising 20 with pancreatic ductal adenocarcinoma (PDAC) and 20 healthy controls. Baseline demographics were similar between the two groups. Among the PDAC subjects, the most common tumor location was the head of the pancreas (55%); 30% had locally advanced disease, 45% were borderline resectable, and 10% had metastatic disease.Compared to the controls, subjects with PDAC had significantly higher levels of fungal toxins (FTs) including ochratoxin, gliotoxin, and citrinin (p < 0.05). Additionally, PDAC patients had significantly elevated levels of environmental toxins (ETs) such as methyl tert-butyl ether (MTBE), xylene, styrene, acrylonitrile, perchlorate, diphenyl phosphate, bromopropane, organophosphates, acrolein, tiglylglycine, and diethylphosphate (p < 0.05).ConclusionOur study demonstrates that subjects with PDAC, without other risk factors, have higher FT and ET levels than controls. Further studies are needed to evaluate whether ET and FT exposure can be clinically utilized as a risk factor for PDAC development.

An archive-assisted multi-modal multi-objective evolutionary algorithm

The multi-modal multi-objective optimization problems (MMOPs) pertain to characteristic of the decision space that exhibit multiple sets of Pareto optimal solutions that are either identical or similar. The resolution of these problems necessitates the utilization of optimization algorithms to locate multiple Pareto sets (PSs). However, existing multi-modal multi-objective evolutionary algorithms (MMOEAs) encounter difficulties in concurrently enhancing solution quality in both decision space and objective space. In order to deal with this predicament, this paper presents an Archive-assisted Multi-modal Multi-objective Evolutionary Algorithm, called A-MMOEA. This algorithm maintains a main population and an external archive, which is leveraged to improve the fault tolerance of individual screening. To augment the quality of solutions in the archive, an archive evolution mechanism (AEM) is formulated for updating the archive and an archive output mechanism (AOM) is used to output the final solutions. Both mechanisms incorporate a comprehensive crowding distance metric that employs objective space crowding distance to facilitate the calculation of decision space crowding distance. Besides, a data screening method is employed in the AOM to alleviate the negative impact on the final results arising from undesirable individuals resulting from diversity search. Finally, in order to enable individuals to effectively escape the limitation of niches and further enhance diversity of population, a diversity search method with level-based evolution mechanism (DSMLBEM) is proposed. The proposed algorithm’s performance is evaluated through extensive experiments conducted on two distinct test sets. Final results indicate that, in comparison to other commonly used algorithms, this approach exhibits favorable performance.