Risultati per: Screening del cancro al seno nelle donne

Circulation, Volume 150, Issue Suppl_1, Page A4131622-A4131622, November 12, 2024. Introduction:Chronic liver disease affects more than 1.5 billion adults worldwide, but the majority of cases are asymptomatic and undiagnosed. Echocardiography is broadly performed and visualizes the liver; however, this information is not diagnostically leveraged.Hypothesis and Aims:We hypothesized that a deep-learning algorithm can detect chronic liver diseases using subcostal echocardiography images that contains hepatic tissue. To develop and evaluate a deep learning algorithm on subcostal echocardiography videos to enable opportunistic screening for chronic liver disease.Methods:We identified adult patients who received echocardiography and abdominal imaging (either abdominal ultrasound or abdominal magnetic resonance imaging) with ≤30 days between tests. A convolutional neural network pipeline was developed to predict the presence of cirrhosis or steatotic liver disease (SLD) using echocardiogram images. The model performance was evaluated in a held-out test dataset, dataset in which diagnosis was made by magnetic resonance imaging, and external dataset.Results:A total of 2,083,932 echocardiography videos (51,608 studies) from Cedars-Sinai Medical Center (CSMC) were used to develop EchoNet-Liver, an automated pipeline that identifies high quality subcostal images from echocardiogram studies and detects presence of cirrhosis or SLD. In a total of 11,419 quality-controlled subcostal videos from 4,849 patients, a chronic liver disease detection model was able to detect the presence of cirrhosis with an AUC of 0.837 (0.789 – 0.880) and SLD with an AUC of 0.799 (0.758 – 0.837). In a separate test cohort with paired abdominal MRIs, cirrhosis was detected with an AUC of 0.726 (0.659-0.790) compared to MR elastography and SLD was detected with an AUC of 0.704 (0.689-0.718). In the external test cohort of 66 patients (n = 130 videos), the model detected cirrhosis with an AUC of 0.830 (0.738 – 0.909) and SLD with an AUC of 0.768 (0.652 – 0.875).Conclusions:Deep learning assessment of clinically indicated echocardiography enables opportunistic screening of SLD and cirrhosis. Application of this algorithm may identify patients who may benefit from further diagnostic testing and treatment for hepatic disease.

Circulation, Volume 150, Issue Suppl_1, Page A4143538-A4143538, November 12, 2024. Introduction:Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed disease that may result in heart failure (HF), arrhythmias, and valvular disease. Our aim was to develop (1) screening criteria to identify high-risk patients for ATTR-CM and (2) our own predictive tool of ATTR-CM.Methods:This was a prospective observational registry at 2 academic sites in Canada. We designed screening criteria to identify high-risk patients in HF, atrial fibrillation, transcatheter valve clinics, and in cardiologist’s offices from January 2019-December 2022. Patients >60 years were included if one of several screening criteria was met and they were referred for pyrophosphate scan by the cardiologist. Univariate and multivariate logistic regression were used to identify predictive clinical, imaging, and biochemical characteristics.Results:In total, 2500 patients were screened, and 200 patients were enrolled with a follow-up duration of 3 years. The mean age was 78 years and 65% were male. Forty-six (23%) had a diagnosis of ATTR-CM and 7 (4%) were diagnosed with AL-amyloidosis. ATTR-CM patients were older (83±7 vs. 77±8; p

Circulation, Volume 150, Issue Suppl_1, Page A4141975-A4141975, November 12, 2024. Background:Refugee populations often experience high rates of cardiovascular disease (CVD). Factors such as significant physiological stress, trauma, limited access to healthcare, substance abuse, and poor lifestyle choices contribute to disease progression and an increased incidence of cardiovascular events. We sought to evaluate the feasibility of using wearables to obtain high-fidelity ECG signals for CVD screening in refugees in Jordan.Methods:This observational cross-sectional study involved outpatients at one of four regional United Nations’ primary care clinics for Palestinian refugee in Jordan. Research assistants collected health histories from consented patients and recorded a 30-second, 6-lead ECG using a handheld, Bluetooth-enabled, wearable device (KardiaMobile 6L, AliveCor Inc., Mountain View, CA, USA). The digital ECG signals were stored on the Bluetooth-synced mobile device and then exported to a cloud server for offline analysis. The raw ECG recordings were preprocessed, and a single median beat was calculated per lead. Waveforms were segmented, and duration and amplitude measures were determined using a previously validated custom algorithm (University of Pittsburgh, PA, USA). All ECG recordings were reviewed by an independent physician.Result:The sample included 31 patients (age 52±13, 64% Females). Risk factors were prevalent in this group, including hypertension (74%), high cholesterol (65%), diabetes (64%), in-camp living (33%), and smoking (30%). Figure 1 shows the population-averaged median beat with 99% CI distribution of this sample. Mean QRS duration was 95±23 ms (range 53−150) and QTc interval was 403±53 (range 267−513). Most patients were in normal sinus rhythm (84%), and remaining patients were in atrial fibrillation or flutter (16%). Other clinically significant abnormalities included non-specific ST-T changes (9.7%), left bundle branch block (1.6%), and LVH with left ventricular strain (1.6%).Conclusion:This pilot study demonstrated that it is feasible to obtain high fidelity ECG signals using wearables to screen for CVD in refugees. Such affordable, noninvasive, point-of-care screening tools could enable early diagnosis and treatment in these patients.

Circulation, Volume 150, Issue Suppl_1, Page A4143847-A4143847, November 12, 2024. Introduction:Our previous studies have shown that sustained activation of the DNA damage response (DDR) in cardiomyocytes leads to p53/p21 activation and cardiac dysfunction. Although the DDR generally involves molecules in DNA replication and repair pathways, the non-proliferative nature of cardiomyocytes suggests a cardio-specific DDR mechanism. However, our understanding of DDR in cardiomyocytes remains limited. Here, we aim to use CRISPR interference (CRISPRi) knockdown screens to identify genes critically involved in DDR regulation in human cardiomyocytes. We hypothesize that identifying these gene clusters may allow us to develop methods to prevent cardiac dysfunction by suppressing DDR in cardiomyocytes.Methods and Results:We established a human iPS cell line stably expressing dCas9-KRAB, which allows CRISPRi-mediated gene knockdown, and differentiated the cells into cardiomyocytes. The resulting human iPS cell-derived cardiomyocytes (hiPSCMs) showed the achievement of approximately 80% knockdown efficiency after gRNA transfection. We stimulated the hiPSCMs with H2O2and quantitatively evaluated the expression levels of the DDR markers γH2AX and p21 by immunostaining using the Operetta®high content imaging system. The DDR markers showed a significant concentration-dependent increase in response to H2O2administration. For arrayed CRISPRi screening, we constructed a gRNA library targeting 437 DDR-related genes. Using this library, we knocked down each DDR-related gene in hiPSCMs followed by H2O2stimulation. We quantified the expression levels of DDR markers by calculating the fluorescence intensity ratios relative to control after gene knockdown, and standardized them to calculate Z scores for all 437 genes. The screening successfully revealed the differential impact of each gene knockdown on γH2AX and p21 expression. We identified 71 genes that significantly affected their expression (Z-score < -1 or > 1). Mapping these genes to DDR pathways highlighted the differential impact of gene knockdown within the same pathway, and stratified their importance in cardiomyocytes.Conclusions:Arrayed CRISPR screening using hiPSCMs revealed differential functional significance of DDR-related genes in cardiomyocytes, identifying 71 genes of particularly significant importance. These findings provide a critical understanding of the cardio-specific DDR pathway and important clues for establishing an appropriate method to suppress DDR in the failing heart.

Circulation, Volume 150, Issue Suppl_1, Page A4137945-A4137945, November 12, 2024. Background:Juvenile sudden cardiac death (SCD) has high impact on the family and society of the victim. While SCD screening programmes are effective in athletes, most (70-80%) young non-athletes individuals are not routinely screened.Research question:We hypothesized that a low-cost screening program may early identify subjects at risk of juvenile SCD, even in non-athletes.Goals:To evaluate the prevalence of SCD-related abnormal findings and, ultimately, to test the effectiveness of a screening programme in high schools.Methods:Between April 2023 and June 2024, high school individuals were enrolled in a screening programme in Tuscany (Pisa, Lucca and Livorno), based on a questionnaire investigating family history of juvenile SCD or diseases predisposing to SCD and symptoms (syncope, palpitations, chest pain), and digitally recorded electrocardiograms (ECGs). In case of abnormal findings, second-line investigations locally (echocardiography, Holter ECG monitoring and/or exercise testing) or third-line investigations at Fondazione Monasterio, Pisa, Italy (cardiac MRI, genetics or electrophysiological testing) were planned. Only preliminary results of the first-line screening are hereby reported.Results:We have currently enrolled 872 individuals (age 17.1±1.8 years, 481 [55%] males, 288 [33%] smokers, 102 [11.7%] recreational drugs users, and 645 [74%] non-competitive athletes). At questionnaires, 56 individuals (6.4%) had a family history of SCD, 32 (3.7%) a first-degree relative with cardiomyopathy, and 13 (1.5%) with channelopathy. As for symptoms, 21 participants (2.4%) reported chest pain or 26 (3%) syncope during exertion, while 90 (10.3%) paroxysmal palpitations. At ECG, we found 2 cases (0.2%) with a type-2 Brugada pattern, 1 female case (0.1%) with prolonged QTc interval (QTc 480 ms), 20 cases (2.3%) with V1-V3 T wave inversion (age > 16 years), 18 cases (2%) of left ventricular hypertrophy (non-athletes), and 4 cases (0.5%) with atypical ventricular ectopy. After the first-line screening, 61 (7%) and 10 (1.2%) individuals were referred to second and third-line investigations, which are currently ongoing.Conclusions:We hereby propose a screening model in high schools that includes specific health questionnaires and digitally recorded ECGs. From preliminary analyses, this approach seems sensitive enough to be tested as a model to favour the early diagnosis of diseased conditions associated with juvenile SCD in the general population.

Circulation, Volume 150, Issue Suppl_1, Page A4141112-A4141112, November 12, 2024. Background:It is estimated that Peripheral Artery Disease (PAD) affects between 8.5 and 12 million Americans and its prevalence among adults over 40 years of age is increasing. PAD disproportionately affects Black Americans who, at any age, are twice as likely to experience PAD as their white counterparts but are less likely to be screened and benefit from early diagnosis and treatment.Research Questions/Hypothesis:Despite the high prevalence of PAD and the importance of early intervention, screening for PAD remains limited and/or underutilized particularly in primary care settings where most cases of PAD can be identified. This study sought to understand provider knowledge of PAD, associated risk factors, treatment, understanding of disparities in PAD and barriers and facilitators of PAD screening. It was hypothesized that limited resources, lack of awareness on the part of providers and patients, limitations of training in vascular medicine, and other issues are contributing to PAD morbidity and mortality, particularly among Black and Hispanic populations.Methods:Because no current PAD survey was found in the literature, a survey for providers to determine their knowledge, attitude, and beliefs about PAD and the importance and process of PAD screening for patients at risk was developed. The survey was administered to CommonSpirit Health providers in Sacramento, CA between December 2023- January 2024. Specialties engaged in the survey (N=145) included primary care, endocrine, nephrology, cardiology and podiatry providers.Results:Response rate was 21%. Of those responding, primary care was the specialty most represented(69%). A total of 65% of respondents identified medical treatment of risk factors as the primary way to treat PAD, 32% rated their knowledge of risk reduction therapies in PAD as below average, and 88% of respondents were either somewhat or not familiar with racial disparities in PAD. 24% of respondents identified the ‘lack of knowledge of PAD management guidelines’ as the most important barrier to their patients with PAD not receiving risk reduction therapies.Conclusions:Initial survey of providers identifies lack of knowledge as a key indicator of PAD screening practices, including knowledge on racial disparities in PAD. These identified gaps can inform targeted interventions to improve screening, early detection and treatment of PAD.

Circulation, Volume 150, Issue Suppl_1, Page A4137770-A4137770, November 12, 2024. Background:Metabolic syndrome is a cluster of conditions that increase the risk of heart disease and diabetes. Early identification and management are crucial, particularly in economically challenged regions where access to healthcare may be limited.Research Questions/Hypothesis:User-friendly self-report data accurately predict metabolic outcomes.Aims:To develop and validate nomograms for individualized estimation of metabolic syndrome risk.Methods:Data from 521 college students (60.1% aged 17-20 years; 68.7% female; 28.0% white) were collected in 2022/2023 from two Brazilian cities. These cities are located in the country’s poorest states, with Gini indices of 0.56 and 0.43. The potential predictors include demographic and economic variables, school-related factors, behaviors, and body weight. Based on predictors for abdominal obesity identified through multilevel logistic regression, we created a nomogram model. We performed the Hosmer-Lemeshow test to assess model calibration and used a bootstrapping approach (B = 150) for internal validation. To evaluate external validity, we assessed metabolic syndrome in a subset of 375 students. The area under the receiver operating characteristic curve (AUROC), with a threshold of 0.70, was used to evaluate the model’s discrimination accuracy.Results:We identified 114 (23.0%) college students who were abdominally obese. We found ten variables associated with the primary outcome: age, biological sex, physical education facilities, enrollment in sports competition (during elementary school); grade retention, preferred subject, physical education classes per week; enrollment in sports training (during secondary school); adherence of 24-hour movement behaviors and body weight. The proposed nomogram showed acceptable performance in the AUROC (0.94 [95% CI: 0.92-0.96). The calibration assessment indicated reasonable consistency of our model (p > 0.05). In the internal validation, we observed a decreased predictive capability (AUROC = 0.86).Conclusion:The 24h-MESYN risk score offers an effective self-screening tool for college students from diverse racial and ethnic backgrounds in economically challenged regions to assess their risk of developing metabolic syndrome.

Aiom, terapia ormonale salvavita. Soluzioni smart per ricordarla

In Italia 37mila persone con cancro metastatico della mammella

Introduction
The prevalence of mental health problems is increasing worldwide, particularly in the vulnerable group of older people. The limited availability of therapists, long wait periods and increasing shortage of healthcare resources limit adequate care. As a result, digital applications are becoming more commonplace as an alternative to human therapists. However, these tend to be used by younger people with higher education, digital health literacy and experience. In Germany, applications that are approved by the health authorities, so-called digital health applications (DiGAs), can be prescribed by physicians and psychotherapists. It remains unclear to the extent older people are experienced with, are willing and can use a DiGA. Therefore, this research aims to identify specific challenges of older people’s accessibility, user experience and engagement with DiGA for depressive disorders. The DiGA4Aged project consists of: (1) a pilot study on usability, (2) a screening study on potential participants for a randomised controlled trial (RCT) evaluating the digital experience of the target population and (3) an RCT to test the effectiveness of a digital nurse as individualised user support in the intervention group. This paper focuses on the pilot study and the screening study.

Methods and analysis
The instrumental components in preparing for the RCT are a mixed-method pilot and observational quantitative screening study, which are described in this manuscript. The pilot study includes questionnaires (covering sociodemographic data, user experience, health literacy, electronic health literacy, media affinity, severity of depression and perceived usability of DiGA), a concurrent think aloud method and a semistructured interview to evaluate two applications with regard to their usability for, acceptance by and needs of older people. The observational screening study collects data of older patients consecutively admitted to an acute care geriatric hospital ward using various questionnaires to identify which clinical and medical factors are associated with the access to, experience with and (non-)use of digital media. Data from the comprehensive geriatric assessment is collected as well as data on their digital media experience and digital health literacy.

Ethics and dissemination
The overall project DiGA4Aged received ethical approval on 17 November 2023 from the ethics committee of the Medical Faculty of Ruhr-University Bochum (registration number 23-7901). Results will be disseminated within the scientific community via publication in peer-reviewed journals as well as presentation at national conferences. The findings from the pilot study and the observational screening study will determine the selection of the DiGA and the recruitment strategy for the subsequent RCT.

Trial registration numbers
The pilot study has been prospectively registered in the German Clinical Trials Register (DRKS00033640, registered on 18 March 2024, available from https://drks.de/search/de/trial/DRKS00033640). Likewise, the observational screening study has been prospectively registered in the German Clinical Trials Register (DRKS00032931, registered on 29 November 2023, available from https://drks.de/search/de/trial/DRKS00032931).

Objectives
To identify and map the available evidence for whether a test of handgrip strength (HGS) and/or the chair stand test (CST) have been used as screening tools for the detection of sarcopenia in elderly individuals within primary care settings.

Design
This study was designed as a scoping review, in accordance with the methodological framework for scoping reviews, developed by Arksey and O’Malley, and using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews.

Data sources
A literature search was conducted to identify relevant articles listed in PubMed and Scopus databases up to 16 October 2023.

Eligibility criteria
Studies including individuals aged ≥60 years who had undergone assessments of HGS and/or the CST in primary care settings were included.

Data extraction and synthesis
Following the article selection process, based on predetermined criteria for inclusion and exclusion, the selected articles were analysed regarding population demographics, the setting in which the research was conducted, the study design, used diagnostic tools and reported results.

Results
The search yielded 282 unique articles, of which 7 were included in the final analysis. All seven included articles had a cross-sectional study design, whereof one also had a longitudinal 3-year follow-up. The number of participants ranged from 75 to 719. Three of the articles used the diagnostic criteria presented by European Working Group on Sarcopenia in Older People (EWGSOP), two used the criteria by Asian Working Group for Sarcopenia 2019, one used the EWGSOP2 criteria and one applied both the EWGSOP and EWGSOP2 criteria to their data. All the articles used HGS to assess muscle strength. CST was not used for this purpose in any of the articles, although it was used to estimate physical performance or as part of the short physical performance battery. The prevalence of sarcopenia in the included articles was 12.0%–20.7%, while the prevalence of possible sarcopenia was 69.9%–73.3% and that of probable sarcopenia was 25.5%–94%.

Conclusion
None of the included articles aimed to study a test of HGS and/or the CST as screening tools for the detection of sarcopenia. However, four of the articles diagnosed possible or probable sarcopenia by using a test of HGS and/or the CST among elderly patients in a primary care setting. There is a need for more research to elucidate whether a test of HGS and/or the CST might be used for screening of sarcopenia in primary care.

Background
Child maltreatment (CM) encompasses physical, emotional or sexual abuse, physical or emotional/psychological neglect or intimate partner (or domestic) violence and is associated with adverse cognitive, behavioural, physical and social outcomes that often continue shaping adulthood. The early and valid detection of CM is essential to initiate treatment and intervention as well as to avoid continued violence against the child. Various occupational groups, such as healthcare providers, teachers, social workers, psychotherapists and others, encounter maltreated children in their professional settings. Systematic reviews on instruments to assess suspected CM often report on retrospective measurement via caregiver’s or child’s self-report and are frequently limited to the health system as a setting. The purpose of this Preferred Reporting Items for Systematic Reviews and Meta-Analyses-compliant systematic review is to synthesise the evidence on psychometric properties of instruments to assess suspected CM at the presentation to a broad range of different occupational groups who work with children inside and outside the healthcare system.

Method
A systematic search will be performed in Scopus, PsycInfo, Medline and Web of Science with no limit on the earliest publication until January 2022. Eligibility criteria include studies that investigate psychometric properties of instruments to assess suspected CM in children and adolescents under 18 years by a professional proxy. After the independent screening of studies by two reviewers, quality assessment and data extraction will be performed using an adaptation of the COnsensus-based Standards for the selection of health Measurement INstruments Risk of Bias checklist, Strengthening the Reporting of Observational Studies in Epidemiology: Explanation and Elaboration report and Downs and Black checklist for measuring study quality. Screening, quality assessment and data extraction will be done using Covidence. The results will be presented in narrative form and, if adequate, a meta-analysis will be performed.

Discussion
This review aims to give an overview of the psychometric properties of different instruments designed to screen suspected CM by professional proxies. The results will be of interest to different occupational groups who need information about methodological quality and characteristics of instruments to make decisions about the best-suited tool for a specific purpose. Furthermore, the results of this review will support the development of novel instruments and might improve the existing ones.

Ethics and dissemination
Ethics approval will not be required. The results of this systematic review will be submitted for publication in a peer-reviewed journal.

PROSPERO registration number
CRD42022297997.

Chi ne consuma molti ha rischio ridotto di avere vari tumori

Chi ne consuma molti ha rischio ridotto di avere vari tumori

Il numero 1 al mondo per l’iniziativa ‘Un ace per la ricerca’

Objective
To evaluate the cost-effectiveness of risk-stratified hepatocellular carcinoma (HCC) screening in diabetic patients with metabolic dysfunction-associated steatotic liver disease (MASLD).

Design
A state-transition model from a healthcare payer perspective on a lifetime horizon.

Setting
Japan.

Population
A hypothetical cohort of 50-year-old diabetic patients with MASLD risk-stratified according to degree of obesity and progression to cirrhosis. Metabolic dysfunction-associated steatotic liver (MASL), metabolic dysfunction-associated steatohepatitis (MASH) and MASH cirrhosis are progressive manifestations of this specific type of liver disease.

Intervention
Abdominal ultrasound (US), US with alpha-fetoprotein (AFP), US with AFP and lectin-reactive alpha-fetoprotein (AFP-L3), CT, extracellular contrast-media-enhanced MRI (ECCM-MRI), gadoxetic acid-enhanced MRI (EOB-MRI) and no screening.

Main outcome measure
Costs, quality-adjusted life-years (QALYs), incremental cost-effectiveness ratios (ICERs), early-stage HCC cases, advanced-stage HCC cases and HCC-related deaths.

Results
EOB-MRI is the most cost-effective screening method for non-obese diabetic patients with MASH cirrhosis and for obese diabetic patients with MASH and MASH cirrhosis. Cost-effectiveness was sensitive to HCC incidence in non-obese diabetic patients with MASH cirrhosis and obese diabetic patients with MASH, and the adherence rate of HCC screening in obese diabetic patients with MASH. When the semiannual HCC incidence was between 0.008 and 0.0138 in non-obese diabetic patients with MASH cirrhosis, US with AFP was more cost-effective than EOB-MRI. Cost-effectiveness acceptability curves showed that EOB-MRI was 50.7%, 96.0% and 99.9% cost-effective in obese diabetic patients with MASH and non-obese diabetic patients with MASH cirrhosis, and obese diabetic patients with MASH cirrhosis at a willingness-to-pay level of $50 000 per QALY gained. Compared with no screening in 100 000 non-obese diabetic patients with MASH cirrhosis and obese diabetic patients with MASH cirrhosis, EOB-MRI reduced total costs by US$69 million and by US$142 million, increased lifetime effectiveness by 12 546 QALYs and by 15 815 QALYs, detected 17 873 and 21 014 early-stage HCC cases, and averted 2068 and 2471 HCC-related deaths, respectively.

Conclusions
Of all HCC screening methods for diabetic patients with MASH cirrhosis, EOB-MRI yields the greatest cost-saving with the highest QALYs, detects the greatest number of early-stage HCC cases and averts the greatest number of advanced-stage HCC cases and HCC-related deaths. The findings provide important insights for the precise implementation of risk-stratified HCC surveillance to reduce morbidity and mortality and improve the quality of life in diabetic patients with MASLD.