OBJECTIVE: To determine whether a family history of unexplained heart failure (HF) in first-degree relatives (children or sibling) increases the rate of unexplained HF.
RESULTS: Using Danish nationwide registry data (1978-2017), we identified patients (probands) diagnosed with first unexplained HF (HF without any known comorbidities) in Denmark, and their first-degree relatives. All first-degree relatives were followed from the HF date of the proband and until an event of unexplained HF, exclusion diagnosis, death, emigration, or study end, whichever occurred first. Using the general population as a reference, we calculated adjusted standardized incidence ratios (SIR) of unexplained HF in the three groups of relatives using Poisson regression models. We identified 55,110 first-degree relatives to individuals previously diagnosed with unexplained HF. Having a family history was associated with a significantly increased unexplained HF rate of 2.59 (95%CI 2.29-2.93). The estimate was higher among siblings (SIR 6.67 [95%CI 4.69-9.48]). Noteworthy, the rate of HF increased for all first-degree relatives when the proband was diagnosed with HF in a young age (≤50 years, SIR of 7.23 [95%CI 5.40-9.68]) and having >1 proband (SIR of 5.28 [95%CI 2.75-10.14]). The highest estimate of HF was observed if the proband was ≤40 years at diagnosis (13.17 [95%CI 8.90-19.49].
CONCLUSIONS: A family history of unexplained HF was associated with a two-fold increased rate of unexplained HF among first-degree relatives. The relative rate was increased when the proband was diagnosed at a young age. These data suggest that screening families of unexplained HF with onset below 50 years is indicated.

METHODS: Since the early 2000s, there has been a rapid decline in colorectal cancer (CRC) mortality, due in large part to screening and removal of precancerous polyps. Despite these improvements, CRC remains the second leading cause of cancer deaths in the United States, with approximately 53,000 deaths projected in 2023. The aim of this American Gastroenterological Association (AGA) Clinical Practice Update Expert Review was to describe how individuals should be risk-stratified for CRC screening and post-polypectomy surveillance and to highlight opportunities for future research to fill gaps in the existing literature.
METHODS: This Expert Review was commissioned and approved by the American Gastroenterological Association (AGA) Institute Clinical Practice Updates Committee (CPUC) and the AGA Governing Board to provide timely guidance on a topic of high clinical importance to the AGA membership, and underwent internal peer review by the CPUC and external peer review through standard procedures of Gastroenterology. These Best Practice Advice statements were drawn from a review of the published literature and from expert opinion. Because systematic reviews were not performed, these Best Practice Advice statements do not carry formal ratings regarding the quality of evidence or strength of the presented considerations. Best Practice Advice Statements BEST PRACTICE ADVICE 1: All individuals with a first-degree relative (defined as a parent, sibling, or child) who was diagnosed with CRC, particularly before the age of 50 years, should be considered at increased risk for CRC. BEST PRACTICE ADVICE 2: All individuals without a personal history of CRC, inflammatory bowel disease, hereditary CRC syndromes, other CRC predisposing conditions, or a family history of CRC should be considered at average risk for CRC. BEST PRACTICE ADVICE 3: Individuals at average risk for CRC should initiate screening at age 45 years and individuals at increased risk for CRC due to having a first-degree relative with CRC should initiate screening 10 years before the age at diagnosis of the youngest affected relative or age 40 years, whichever is earlier. BEST PRACTICE ADVICE 4: Risk stratification for initiation of CRC screening should be based on an individual\'s age, a known or suspected predisposing hereditary CRC syndrome, and/or a family history of CRC. BEST PRACTICE ADVICE 5: The decision to continue CRC screening in individuals older than 75 years should be individualized, based on an assessment of risks, benefits, screening history, and comorbidities. BEST PRACTICE ADVICE 6: Screening options for individuals at average risk for CRC should include colonoscopy, fecal immunochemical test, flexible sigmoidoscopy plus fecal immunochemical test, multitarget stool DNA fecal immunochemical test, and computed tomography colonography, based on availability and individual preference. BEST PRACTICE ADVICE 7: Colonoscopy should be the screening strategy used for individuals at increased CRC risk. BEST PRACTICE ADVICE 8: The decision to continue post-polypectomy surveillance for individuals older than 75 years should be individualized, based on an assessment of risks, benefits, and comorbidities. BEST PRACTICE ADVICE 9: Risk-stratification tools for CRC screening and post-polypectomy surveillance that emerge from research should be examined for real-world effectiveness and cost-effectiveness in diverse populations (eg, by race, ethnicity, sex, and other sociodemographic factors associated with disparities in CRC outcomes) before widespread implementation.

History of first-degree relatives with colorectal cancer is one of the most important and common risk factors for colorectal cancer in China. Most chronic diseases, such as malignancies, are preventable by adopting health-promoting behaviors and other approaches. However, the relationships among factors affecting the health-promoting lifestyles of first-degree relatives with colorectal cancer have not been sufficiently studied. This study aimed to test the mediation effects of Health belief in the relationship between health-promoting lifestyle and health information literacy among first-degree relatives with colorectal cancer.
A cross-sectional descriptive design was conducted using convenience sampling of 856 first-degree relatives of CRC patients attending three tertiary care hospitals in Nanchong and Deyang of China from December 2020 to December 2022. Questionnaires were used to collect data on the participants\' demographic information, the colorectal cancer health beliefs, the health promotion lifestyle, and the health information literacy. Data were analyzed with descriptive statistics, one-way ANOVA, Pearson\'s correlation coefficients, and mediation analysis using SPSS 25.0 program and its macro-program PROCESS.
The findings indicated health information literacy was less, health belief was at the medium level, and performance of health promotion behavior was average for first-degree relatives of colorectal cancer. Whereas first-degree relatives of colorectal cancer health-promotion lifestyle had a positive correlation with health beliefs (r = 0.376, p < 0.01) and health information literacy (r = 0.533, p < 0.01), health beliefs had a positive correlation with health information literacy (r = 0.337, p < 0.01). Health beliefs mediated the positive effect of health information literacy on health-promoting lifestyles (β =0.420, 95% CI, 0.288-0.581), and indirect effects accounted for 14.0% of the total effect.
Health information literacy and health beliefs are key factors associated with a health-promoting lifestyle among first-degree relatives with colorectal cancer. These factors have direct and indirect effects on each other and on health-promoting lifestyles. To enhance health-promoting lifestyles among first-degree relatives with colorectal cancer, interventions that strengthen health beliefs and provide health information literacy should be developed.

UNASSIGNED: To measure the macular pigment optical density in first-degree relatives of patients with age-related macular degeneration and compare it with a healthy control group.
UNASSIGNED: One hundred and twenty-eight healthy subjects who were first-degree relatives of age-related macular degeneration patients were included in the study (Group 1). As the control group, 74 healthy subjects were included in the study (Group 2). The right eyes of all cases were included in the study. Macular pigment optical density was measured with a commercially available device (MPSII®, Elektron Technology, Switzerland) using technology based on heterochromatic flicker photometry. Central foveal thickness and subfoveal choroidal thickness were measured with spectral-domain optical coherence tomography. Values were compared between the two groups.
UNASSIGNED: There were 54 males and 74 females in Group 1 and 32 males and 42 females in Group 2. The mean ± SD ages of Group 1 and Group 2 were 49.0 ± 7.6 and 41.8 ± 8.6, respectively. Mean ± SD macular pigment optical density values of Group 1 and Group 2 were 0.43 ± 0.09 and 0.47 ± 0.12 (p = 0.048), mean ± SD central foveal thickness were 208 ± 19 and 216 ± 8 µm (p = 0.014), and mean ± SD subfoveal choroidal thickness were 232 ± 29 and 250 ± 21 µm (p = 0.002), respectively.
UNASSIGNED: The macular pigment optical density values were significantly lower in the first-degree relatives of patients with age-related macular degeneration than in the control group. Macular pigment optical density may be a marker for the development of age-related macular degeneration in the future in the first-degree relatives of age-related macular degeneration patients. Further prospective studies with a larger number of participants will be needed to confirm our results moreover, to clarify its benefit as an early diagnostic biomarker.

暂无摘要。

Sule OlgunBackground  Breast cancer risk increases by 80% in the presence of BRCA1 and BRCA2 gene mutations in the same family. In particular, a woman whose sister or mother has breast cancer has a 2- to 5-fold higher risk of developing breast cancer compared with other women. For this reason, recommendations should have been made regarding breast cancer prevention and/or early detection for women with first-degree family history of breast cancer. Aim  The aim of this study was to evaluate the effect of health education, which was provided to first-degree female relatives of breast cancer patients, on their health beliefs and behaviors. Study Design and Methods  The study sample included 50 women with a first-degree relative being treated for breast cancer in the chemotherapy and radiotherapy unit of a university hospital. A one-group pretest-posttest design was used. The pretest consisted of the health belief model scale and a questionnaire regarding the women\'s sociodemographic information and breast cancer screening behaviors. After the pretest, the patients received health education regarding breast cancer risk factors and screening methods. The posttest was conducted 3 weeks after the education using the same assessment tools. Results  After education, there were statistically significant increases in rates of practicing breast self-examination, having clinical breast examinations, and undergoing breast ultrasound/mammography compared with pretest results. Conclusions  Health workers should possess knowledge and experience about breast cancer which will enable them to effectively undertake an educational role, especially for high-risk groups such as women with first-degree family history of breast cancer.

A first-degree relative (FDR) with colorectal cancer (CRC) is one of the most important risk factors for the disease. Adherence to CRC screening recommendations can help mitigate this risk; however, adherence has historically been low. This study aimed to determine the factors associated with CRC screening. The study used data from the 2015 National Health Interview Survey. CRC screening rates were compared between FDRs and their peers without a family history of CRC. Participants were considered to be adherent if they had undergone any of the following: fecal immunochemical test within the prior 1 year, sigmoidscopy or computed tomography colongraphy within 5 years, or colonoscopy within 10 years. The analysis included 11,381 participants age 50-75 at time of survey. Overall, 62% of participants were adherent to screening recommendations. Seventy-six percent of FDRs of individuals with CRC were adherent to guidelines; they were 86% more likely to be adherent than their peers. Race, ethnicity, and socioeconomic variables were all associated with adherence. Models were largely similar between FDRs of individuals with CRC and the general public. Nearly one-quarter of FDRs of individuals with CRC are not adherent to screening recommendations. Further outreach is needed for members of minority races and the Hispanic community and additional efforts are needed to increase the accessibility of CRC screening for those with more limited finances and the uninsured.

UNASSIGNED: Neurocognitive deficits are well-documented in patients of schizophrenia and their first-degree relatives (FDRs). Metacognitive awareness of these deficits, called neurocognitive insight (NI), has been found to be poor in schizophrenia patients but has not been assessed in their FDRs. This study evaluated NI and its relationship with objective cognitive performance, a history of psychotic experiences (PEs), and social functioning in unaffected FDRs.
UNASSIGNED: This cross-sectional study was conducted at the outpatient department of a tertiary care teaching hospital. A total of 100 FDRs were assessed for PEs and evaluated for subjective cognitive complaints (SCC), objective cognitive performance, and social functioning using the Subjective Scale to Investigate Cognition in Schizophrenia, neurocognitive tests from the National Institute of Mental Health and Neurosciences battery, and SCARF Social Functioning Index, respectively.
UNASSIGNED: Compared to normative data, episodic memory was the most commonly impaired domain (up to 72% of participants), followed by working memory, attention, and executive function. There was no correlation between SCC and neuropsychological test scores in the corresponding cognitive domains, implying poor NI. 15% of participants had a lifetime history of PEs. This group had significantly higher SCC as compared to those without PEs (U = 0.366, P = 0.009, r = 0.26). A regression analysis showed that the FDRs\' social functioning reduced by 0.178 units for each unit increase in SCC [F (1,98) = 5.198, P = 0.025].
UNASSIGNED: Similar to schizophrenia patients, FDRs also have poor NI. The severity and progression of SCC could be explored as a possible marker for screening and monitoring FDRs at an ultrahigh risk for psychosis. Importantly, even in unaffected FDRs, SCC could affect socio-occupational functioning and need further research.

Idiopathic ventricular fibrillation (IVF) is diagnosed in out-of-hospital VF survivors after comprehensive investigations have excluded structural heart disease or inherited channelopathies. Current guidelines recommend clinical screening of first-degree relatives of IVF survivors, but this approach has not been validated in children. This study aimed to assess the yield of clinical cardiac screening in child first-degree relatives of IVF victims. A retrospective observational study was conducted of all consecutive pediatric first-degree relatives of IVF patients referred to our center between December 2007 and April 2020. Patients underwent systematic evaluation including medical and family history; 12-lead resting, signal-averaged, and ambulatory electrocardiogram (ECG); echocardiogram; exercise testing; cardiac magnetic resonance imaging; and ajmaline provocation testing. Sixty child first-degree relatives of 32 IVF survivors were included [median follow-up time of 55 months (IQR 27.0-87.0 months); 30 (50%) females]. Eight patients (13.3%) from 6 families (18.8%) received a cardiac diagnosis: long QT syndrome (n = 4); Brugada syndrome (n = 3); and dilated cardiomyopathy (n = 1). There were no deaths during follow-up. This study demonstrates a high yield of clinical screening for inherited cardiac disease in child first-degree relatives of IVF survivors. These findings highlight the variable expression of inherited cardiac conditions and the importance of comprehensive clinical evaluation in pediatric relatives, even when extensive investigations in the proband have not identified a clear etiology. Moreover, our results support the validity of the investigations proposed by current guidelines in family relatives of IVF survivors.

UNASSIGNED: The prevalence of familial unruptured intracranial aneurysm (UIA) in Thai population was unknown.
UNASSIGNED: Our study population comprised first-degree relatives of patients who were diagnosed with aneurysmal subarachnoid hemorrhage (aSAH) in two cerebrovascular neurosurgical centers from January 2018 to December 2018. The volunteers underwent three-dimensional time-of-flight magnetic resonance angiography for screening intracranial aneurysms (IA). Those who were reported positive or suspected of IA then underwent computed tomography angiography for confirmation.
UNASSIGNED: We identified 12 patients who had 12 unruptured IAs (UIAs) from among 93 first-degree relatives. The prevalence of UIA among our study population was 12.9%. An estimated prevalence of UIA among Thai population was 9.05% (95% confidence interval [CI] 7.32-10.78). Of the 93 relatives, 84 had only one first-degree relative who suffered aSAH. Siblings posed a higher risk for UIA than offspring (16% vs. 9.5%), but the difference was not statistically significant (odds ratio 1.810, 95% CI 0.50-6.50, P = 0.274). The most common aneurysm location was the anterior cerebral artery territory (50%).
UNASSIGNED: The prevalence of familial UIA in a Thai population was relatively high. There was no significant between-group difference in the occurrence of UIA between the siblings and offspring of the aSAH patients.