Second Primary Malignant Neoplasms in Survivors of Retinoblastoma in a Single Ocular Oncology Practice.

Introduction: A retrospective review of patients treated for retinoblastoma who developed a non-pineoblastoma second primary malignant neoplasm (SPMN) was performed. Methods: The demographics, clinical features and treatments for retinoblastoma, pathologic types of non-pineoblastoma second primary malignant neoplasm (SPMN), intervals between the retinoblastoma diagnosis and treatment and diagnosis of non-pineoblastoma SPMN, treatment provided for the SPMN, and the survival outcomes of the patients were evaluated. Results: Of 550 patients treated initially for retinoblastoma, this series used the 15 (2.7) that developed a non-pineoblastoma SPMN, 14 of which (93.3%) had been treated for bilateral retinoblastoma. All patients had carried a germline mutations in the RB1 gene. The median time from retinoblastoma diagnosis to SPMN diagnosis was 19.0 years (extremes 3.4 and 39.4 years). Six of the fifteen patients died during the follow-up of their SPMN. The median interval between initial retinoblastoma diagnosis and death in the 6 patients who died of their SPMN was 18.8 years (extremes 6.2 and 34.6 years) and between diagnosis of the SPMN and death was 1.2 years (extremes 0.25 and 4 years). Discussion: Of the patients who had been treated with External Beam Radiotherapy (EBRT), 13 developed a SPMN within the previously irradiated field.

Arthralgia with risk of progression to psoriatic arthritis: role of clinical assessments and ultrasound as prognostic factors.

OBJECTIVES: Referral of patients from dermatology to rheumatology practices due to psoriasis is unnecessary delayed. Many times musculoskeletal symptoms are the first reason for consultation. We aimed to estimate the proportion of ARP-PsA (arthralgia with risk to progression) defined by patients with arthralgia and the presence of psoriasis and/or a family history. Also, identify clinical, laboratory, and imaging prognostic factors of PsA progression within the ARP-PsA group over a one-year follow-up period. METHODS: Patients were included in a comprehensive arthralgia evaluation program, with the ARP-PsA criteria defined as arthralgia with Pso and/or a family history of Pso, not referred from dermatology. Baseline characteristics were analyzed, and the progression to PsA at one year was assessed. Multivariate analysis identified predictor features for progression. RESULTS: Of the 1419 patients, 8.4% met ARP-PsA criteria, and 29% of this subgroup developed PsA at one year. Baseline differences between those who developed PsA and those who did not included family history, Pso duration, pain severity, joint count, and imaging findings (X-ray and ultrasound). Multivariate analysis revealed the predictive significance of a combination of Pso plus family history of psoriasis disease, synovitis by Power Doppler ultrasound, ultrasound enthesopathy findings, and low tender joint count. CONCLUSION: The frequency of patients ARP-PsA was 8.4%, of whom 29% developed PsA at 1-year. The main predictor variables for this progression were identified.

Medical history and lifestyle factors have limited impact on time-to-first-treatment in patients with chronic lymphocytic leukemia.

Background: Chronic lymphocytic leukemia (CLL) is a heterogeneous disease. Whereas some patients have an indolent disease, others experience an aggressive course and early death. Our aim was to investigate if modifiable and non-modifiable medical history and lifestyle factors prior to diagnosis had an impact on the natural course of the disease. Method: In 1154 CLL patients, we assessed if the weight, physical activity, smoking, and alcohol consumption or non-modifiable characteristics including family history of lymphoid malignancy and medical history were associated with time-to-first-treatment (TTFT) and adjusted all results for the CLL-International Prognostic Index (CLL-IPI). Results: TTFT was shorter for patients with high/very high-risk CLL-IPI than those with low/intermediate risk CLL-IPI. In the adjusted analysis we did not find additional impact on TTFT besides CLL-IPI from any environmental characteristics assessed. Conclusions: We found limited impact of environmental factors on the natural course of CLL (measured as the TTFT in treatment naïve patients) providing valuable knowledge, and potential relief, to share with patients at the time of diagnosis.

Family Lore, a Variant of Uncertain Significance, and CADASIL.

An infant presents in extremis. After the medical team stabilizes him, the race is on to figure out why he got so sick in the first place. The consulting genetics team thinks that it is unlikely his problems are due to a genetic cause, but his extreme, confounding presentation is enough to justify trio exome sequencing. When the results reveal an unexpected, paternally inherited variant of uncertain significance (VUS) in NOTCH3, fresh questions arise. The infant's presenting symptoms and descriptive diagnoses, including hematemesis, epistaxis, and gastric ulcers, certainly do not fit the mold of CADASIL. However, closer inspection of his family history yields tantalizing clues: a father and paternal grandfather with seizures, and a paternal grandfather with unexplained mood disturbances in middle age. Combining details gleaned from the family history and medical literature, the clinical genetics and laboratory genetics team collaborated, reclassified the VUS as likely pathogenic, and offered a new unifying diagnosis to explain much of the family's lore.

Coronary Artery Disease, Family History, and Screening Perspectives: An Up-to-Date Review.

Family history for CAD (coronary artery disease) is an established cardiovascular (CV) risk factor and it is progressively acquiring importance in patients' CV risk stratification. Numerous studies have demonstrated that individuals with a first-degree relative affected by CAD have a significantly higher risk of developing the condition themselves; in particular, when CAD occurs at an early age in relatives. Indeed, recently published CCS (chronic coronary syndrome) ESC (European Society of Cardiology) guidelines include family history (FH) as a risk factor to consider when calculating pre-test risk for CAD. ESC guidelines on preventive cardiology (2021) only suggested CV risk assessment in the presence of a positive FH for CV disease, not considering it in the actual risk scores. Evidence suggests that positive anamnesis for relatives affected by CAD correlates with ACS (acute coronary syndrome) and CAD, with slight differences in relative risk as far as the degree of kinship is concerned. Genetic factors contribute to this correlation by influencing key processes that affect heart health, such as cholesterol metabolism, blood pressure regulation, and inflammatory responses. New technologies in the genetics field are increasing the availability of genome sequencing, and new polymorphism panels are being tested as predictive for CAD, objectifying familiarity. Advances in imaging techniques allow the assessment of coronary atherosclerosis and its composition, and these are acquiring strength in evidence and recommendations in ESC guidelines as a way to define coronary disease in low and low-to-intermediate risk patients and to guide medical therapy and interventional procedures. Use of these emerging tools to guide screening is likely to be extended, beyond high CV risk patients, to individuals with FH for early CAD and/or specific genetic profiles, as recent evidence in the literature is suggesting.

Association between family history with lung cancer incidence and mortality risk in the Asia Cohort Consortium.

Family history of lung cancer (FHLC) has been widely studied but most prospective cohort studies have primarily been conducted in non-Asian countries. We assessed the association between FHLC with risk of lung cancer (LC) incidence and mortality in a population of East Asian individuals. A total of 478,354 participants from 11 population-based cohorts in the Asia Cohort Consortium were included. A Cox proportional hazards regression model was used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs). A total of 7,785 LC incident cases were identified. FHLC (any LC subtype) was associated with an increased risk of LC incidence (HR = 1.45, 95% CI = 1.30-1.63). The positive association was observed in men and women (HR = 1.44, 95% CI = 1.26-1.66 in men; HR = 1.47, 95% CI = 1.22-1.79 in women), and in both never-smokers and ever-smokers (HR = 1.43, 95% CI = 1.18-1.73 in never-smokers; HR = 1.46, 95% CI =1.27-1.67 in ever-smokers). FHLC was associated with an increased risk of lung adenocarcinoma (HR = 1.63, 95% CI: 1.36-1. 94), squamous cell carcinoma (HR = 1.88, 95% CI: 1.46-2.44), and other non-small cell LC (HR = 1.94, 95% CI: 1.02-3.68). However, we found no evidence of significant effect modification by sex, smoking status, and ethnic groups. In conclusion, FHLC was associated with increased risk of LC incidence and mortality, and the associations remained consistent regardless of sex, smoking status and ethnic groups among the East Asian population.

49,XXXXY PATIENT AND INCIDENTAL FINDING OF LOW LEVEL MOSAIC 45,X IN THE MOTHER.

Context: 49,XXXXY syndrome is an aneuploidy that affects males and is commonly referred to as a variant of Klinefelter Syndrome. It presents a frequency of 1:85,000 to 100,000 births and an etiology related to non-disjunction of homologous chromosomes. Findings include skeletal abnormalities, hypogonadism, and cognitive impairment. Turner syndrome is also an aneuploidy of the sex chromosomes, which affects women, and has a prevalence of 1:2000 to 2500 births and a phenotype characterized by short stature and sexual infantilism. Objective: The objective of this article was to study the literature, investigate the family members and report the case. Subjects and Methods: Data collection was based on medical records, family history, karyotype analysis, and FISH analysis. Results: The karyotype of the proband revealed mos 49, XXXXY[45]/46, XY[5]. The patient's mother is affected by mosaic Turner Syndrome low level and the maternal grandmother by inversion of chromosome 9. The father, the younger brother, and the paternal grandmother present variations in the normality of their chromosomes. Conclusions: It is important to highlight that the early diagnosis of the syndrome and the initiation of therapy reduce biopsychosocial impairment. Investigation of other family members makes genetic counseling more effective.

Motivators and Barriers to Joining a Lifestyle Change Program for Disease Prevention.

Introduction: Lifestyle change programs (LCPs) are effective in helping people adopt healthy lifestyles and maintain healthy weight for disease prevention. LCPs are known to be underutilized, but the nuances surrounding women's interest in using these programs for disease prevention need to be further explored so that enrollment and retention in these programs can be improved. Methods: The purpose of this study was to explore women's interest in and knowledge of LCPs and identify their motivators and barriers to joining these types of programs through a survey. The survey was administered both online and in person. The survey had 22 questions and included demographics, medical and family history, knowledge and interest in LCPs, and barriers and motivators to participating in LCPs. Results: Participants in this study included 1,606 women from 40 to 74 years of age. We found that respondents had limited knowledge about the benefits of LCPs in reducing risks of specific diseases, such as breast cancer and osteoarthritis. Respondents reported low-to-moderate interest in LCPs. We found that their interest in these programs was negatively associated with their weekly physical activity and positively associated with their body mass index (BMI) and the number of reported barriers to joining LCPs. The most common barriers cited were cost, location, time, and too many meetings. In addition, we found that respondents who had or were unsure about their family history of diabetes were more interested in LCPs compared with individuals who had no family history of diabetes. We did not find significant differences in respondent interest in LCPs across ethnicity. Conclusions: Our study suggests that specific barriers to LCPs-including women's knowledge of such programs-will need to be addressed before enrollment and retention in LCPs are increased.

Perinatal and Demographic Risk Factors Associated with Autism Spectrum Disorder: A National Survey of Potential Predictors and Severity.

INTRODUCTION: This study investigates autism spectrum disorders (ASD) in Greece, focusing on estimating prevalence and identifying regional disparities in children aged 4 to 7 years. MATERIALS AND METHODS: Utilizing a quantitative, descriptive, and exploratory methodology, the research employed a structured questionnaire to gather extensive maternal and child health data. RESULTS: The sample consisted of 517 mothers of children diagnosed with ASD from all over Greece, contributing to a nuanced understanding of ASD predictors. This study aims to elucidate the role of prenatal factors in the likelihood of an ASD diagnosis and their impact on the subsequent functionality of children with ASD. The study identified significant predictors of lower functionality in children with ASD, including higher maternal age, delayed ASD diagnosis, lower family income, and higher birth order. Prenatal health issues, such as vaginal bleeding and infections, also influenced functional outcomes. Notably, a family history of neurological or psychiatric conditions appeared protective. DISCUSSION: The regression model demonstrated robust predictive power, underscoring the complexity of genetic, environmental, and socioeconomic factors in ASD development. The findings advocate for early diagnosis and intervention, systematic screening, and addressing socioeconomic disparities to improve functional outcomes. The results support evidence-based service development and policy adjustments to enhance early identification, intervention, and rehabilitation for children with ASD. CONCLUSIONS: Establishing standardized case-recording procedures and an ASD register at national and regional levels is recommended for systematic monitoring and resource evaluation.

Family history of dementia and brain health in childhood and middle age: a prospective community-based study.

We aimed to determine the association of family history of dementia with structural brain measures and cognitive performance in childhood and mid-life adulthood. We studied 1,259 parents (mean age: 47.3 years, range 31.9-67.4) and 866 of their children (mean age [range] at brain MRI: 9.9 years [8.8-11.9], and for cognition: 13.5 years [12.6-15.8]) of the population-based Generation R Study. Parents filled in a questionnaire on family history, and both parents and children underwent cognitive assessment and neuroimaging. Of all participants, 109 parents (8.6%) reported a parental family history of dementia and 73 children (8.4%) had a grandparental history of dementia with mean age of dementia diagnosis in those affected 75 years (± 7.3). We observed no associations of dementia family history with cognitive ability in either parents or their children, except for worse Purdue pegboard in parents with a parental history of dementia, compared to those without (mean difference [95%CI]: -1.23 [-2.15; -0.31], test range: 21-52). In parents and children, neuroimaging measures did not differ significantly by family history. Results did not depend on age, sex, and APOE genotype. Family history of dementia was associated with worse manual dexterity in mid-life adulthood, but not with any other measures of cognitive ability or subclinical brain health in childhood and mid-life. These findings suggest that the association of family history with dementia risk is due chiefly to neurodegenerative rather than neurodevelopmental processes, and might first present with reduced motor skills.

A ten-year overview of cancer genetic family history screening in Georgia's Latina population.

Background: Population-based cancer genetic family history (FH) screening to identify families at high risk for BRCA-associated cancers has been endorsed by national public health policies. This report aimed to describe the utilization of FH screening services from 2013 to 2022 according to rurality and socioeconomic deprivation among Latinas in Georgia. Methods: Women who attended a medical appointment at participating Georgia Public Health Clinics were invited to complete FH screening. Screening results and participant zip code were reviewed. Area deprivation index (ADI) was measured at the census block group level and dichotomized (more deprived and less deprived). Rurality was measured through Rural-Urban Commuting Area (RUCA) codes and dichotomized (urban and rural). The ADI and RUCA codes were linked to participant data by zip code to characterize FH utilization among the Latina community. Results: Of the 9,330 adult Latinas in Georgia that completed cancer genetic FH screening, 9,066 (97.17%) women screened negative, and 264 (2.83%) screened positive (i.e., FH suggestive of higher risk for carrying BRCA1/2 mutations compared to the general population). Screening completion was higher among Latinas in urban areas (n = 7,871) compared to rural areas (n = 1,459). Screening completion was also higher in more socially deprived areas (n = 5,207) compared to less socially deprived areas (n = 4,123). Conclusion: Georgia's FH screening program reached Latinas across Georgia, particularly those living in urban, socially deprived areas. To ensure equitable cancer genetic screening dissemination, future efforts should prioritize tailored outreach in rural regions and comprehensive evaluations to identify key determinants of screening trends among Georgia's Latina population.

Early cancer screening surveillance in one medical center of China.

Objectives: Cancer screening aims to detect and treat malignant lesions at an early stage and to prolong patients' lifetime. There is still a lack of effective cancer screening programs in China. We initiated a screening project in 2018 and this study presented the cancer screening status in China. Methods: We conducted a cross-sectional study in one cancer-care medical center of China. The screening program included routine blood tests, plasma tumor markers, gastric endoscopy, colonoscopy, ultrasound, and computed tomography (CT) scans. Screening results were presented as sensitivity, specificity and positive predictive values (PPVs). Results: Twenty-three (1.46%) out of 1,576 participants were eventually diagnosed with malignant tumors or high-grade intraepithelial neoplasia (HGIN). A family history of malignancy (78.26% in diagnosed cancer and HGIN vs. 46.36% in the others) was the only statistically significant parameter associated with cancer detection (p = 0.002). None of the common tumor markers were associated with the cancers screened. Except for colonoscopy (50.00%) and ultrasound for renal cancer (66.67%), the sensitivities of most screening methods were 100%. The specificities of all the screening means were above 96%. Most PPVs ranged from 30-60%. Conclusion: We emphasized risk stratification for early cancer screening, such as a family history of cancer. The survey illustrated that gastric endoscopy, colonoscopy, ultrasound, and lung CT for early cancer screening had high specificity, reasonable sensitivity, and PPV. We anticipated this report would motivate larger-sample studies to estimate the risk-to-benefit ratio of cancer screening and urge the establishment of a native Chinese screening project and even guidelines.

The Value of Targeted Screening for Glaucoma: The University of Ilorin Teaching Hospital Experience.

BACKGROUND: Glaucoma is an irreversible silent and dangerous eye condition that leads to damage of the optic nerve head. This study aimed to determine the outcome of targeted glaucoma outreaches done in the University of Ilorin Teaching Hospital over three years with a view to early detection and timely institution of management. METHODS: The study is a retrospective review of 3 targeted hospital-based glaucoma screenings, World Sight Day of 2019 (140 participants), World Glaucoma Week of 2020 (176 participants), and World Glaucoma Week of 2022 (183 participants). The criteria for diagnosing glaucoma and glaucoma suspects were taken from the national study of prevalence and types of glaucoma from the Nigerian national blindness survey and International Society for Geographical and Epidemiological Ophthalmology criteria. RESULTS: The study population had a mean age of 45.54 years (SD 16.92) with individuals within the age group of 51-60 years comprising the majority of the participants (26.4%). Most participants had normal vision or mild visual impairment in the right eye (411, 86.1%) and left eye (405, 84.9%) while blindness was recorded in the right eye of 37 (7.7%) participants and left eye of 36 (7.5%). The prevalence of glaucoma cases and suspects among study participants was 29.4% and 42.5%, respectively. There was a statistically significant relationship between the diagnosis of glaucoma and older age, family history of glaucoma and elevated intraocular pressure. CONCLUSION: This study showed that targeted screening for glaucoma is an invaluable tool for ensuring early detection of the disease.

CONTEXTE: Le glaucome est une affection oculaire silencieuse et dangereuse qui entraîne des dommages au nerf optique. Cette étude visait à déterminer les résultats des campagnes de dépistage ciblé du glaucome menées à l'Hôpital universitaire d'Ilorin sur trois ans en vue d'un dépistage précoce et d'une institution rapide de la prise en charge. MÉTHODES: Cette étude est une revue rétrospective de trois dépistages hospitaliers ciblés du glaucome : la Journée mondiale de la vue de 2019 (140 participants), la Semaine mondiale du glaucome de 2020 (176 participants) et la Semaine mondiale du glaucome de 2022 (183 participants). Les critères de diagnostic du glaucome et des suspects de glaucome ont été tirés de l'étude nationale sur la prévalence et les types de glaucome de l'enquête nationale nigériane sur la cécité et des critères de la Société internationale de géographie et d'épidémiologie ophtalmologique. RÉSULTATS: La population étudiée avait un âge moyen de 45,54 ans (SD 16,92), les personnes âgées de 51 à 60 ans constituant la majorité des participants (26,4 %). La plupart des participants avaient une vision normale ou une légère déficience visuelle à l'œil droit (411, 86,1 %) et à l'œil gauche (405, 84,9 %), tandis que la cécité a été enregistrée à l'œil droit de 37 participants (7,7 %) et à l'œil gauche de 36 (7,5 %). La prévalence des cas de glaucome et des suspects de glaucome parmi les participants à l'étude était respectivement de 29,4 % et de 42,5 %. Il existait une relation statistiquement significative entre le diagnostic de glaucome et l'âge avancé, les antécédents familiaux de glaucome et l'élévation de la pression intraoculaire. CONCLUSION: Cette étude a montré que le dépistage ciblé du glaucome est un outil précieux pour assurer la détection précoce de la maladie. MOTS CLÉS: Dépistage du glaucome, Prévalence du glaucome, Cécité due au glaucome, Antécédents familiaux de glaucome.

Sex-specific differences in brain activity dynamics of youth with a family history of substance use disorder.

An individual's risk of substance use disorder (SUD) is shaped by a complex interplay of potent biosocial factors. Current neurodevelopmental models posit vulnerability to SUD in youth is due to an overreactive reward system and reduced inhibitory control. Having a family history of SUD is a particularly strong risk factor, yet few studies have explored its impact on brain function and structure prior to substance exposure. Herein, we utilized a network control theory approach to quantify sex-specific differences in brain activity dynamics in youth with and without a family history of SUD, drawn from a large cohort of substance-naïve youth from the Adolescent Brain Cognitive Development Study. We summarize brain dynamics by calculating transition energy, which probes the ease with which a whole brain, region or network drives the brain towards a specific spatial pattern of activation (i.e., brain state). Our findings reveal that a family history of SUD is associated with alterations in the brain's dynamics wherein: i) independent of sex, certain regions' transition energies are higher in those with a family history of SUD and ii) there exist sex-specific differences in SUD family history groups at multiple levels of transition energy (global, network, and regional). Family history-by-sex effects reveal that energetic demand is increased in females with a family history of SUD and decreased in males with a family history of SUD, compared to their same-sex counterparts with no SUD family history. Specifically, we localize these effects to higher energetic demands of the default mode network in females with a family history of SUD and lower energetic demands of attention networks in males with a family history of SUD. These results suggest a family history of SUD may increase reward saliency in males and decrease efficiency of top-down inhibitory control in females. This work could be used to inform personalized intervention strategies that may target differing cognitive mechanisms that predispose individuals to the development of SUD.

3-generation family histories of mental, neurologic, cardiometabolic, birth defect, asthma, allergy, and autoimmune conditions associated with autism: An open-source catalog of findings.

The relatively few conditions and family member types (e.g., sibling, parent) considered in investigations of family health history in autism spectrum disorder (ASD, or autism) limits understanding of the role of family history in autism etiology. For more comprehensive understanding and hypothesis-generation, we produced an open-source catalog of autism associations with family histories of mental, neurologic, cardiometabolic, birth defect, asthma, allergy, and autoimmune conditions. All live births in Denmark, 1980-2012, of Denmark-born parents (1,697,231 births), and their 3-generation family members were followed through April 10, 2017 for each of 90 diagnoses (including autism), emigration or death. Adjusted hazard ratios (aHR) were estimated via Cox regression for each diagnosis-family member type combination, adjusting for birth year, sex, birth weight, gestational age, parental ages at birth, and number of family member types of index person; aHRs also calculated for sex-specific co-occurrence of each disorder. We obtained 6462 individual family history aHRS across autism overall (26,840 autistic persons; 1.6% of births), by sex, and considering intellectual disability (ID); and 350 individual co-occurrence aHRS. Results are cataloged in interactive heat maps and down-loadable data files: https://ncrr-au.shinyapps.io/asd-riskatlas/ and interactive graphic summaries: https://public.tableau.com/app/profile/diana.schendel/viz/ASDPlots_16918786403110/e-Figure5. While primarily for reference material or use in other studies (e.g., meta-analyses), results revealed considerable breadth and variation in magnitude of familial health history associations with autism by type of condition, family member type, sex of the family member, side of the family, sex of the index person, and ID status, indicative of diverse genetic, familial, and nongenetic autism etiologic pathways. Careful attention to sources of autism likelihood in family health history, aided by our open data resource, may accelerate understanding of factors underlying neurodiversity.

A 12-year comparison of patients with Alzheimer's dementia with their informants in eight Asian countries.

BACKGROUND: The number of patients with Alzheimer's disease (AD) has increased dramatically in Asia. OBJECTIVE: To update the demographic characteristics of patients with AD and their informants in eight Asian countries and compare them from 12 years prior. METHODS: The A1-A3 components of the Uniform Dataset (UDS), version 3.0, were administered in Taiwan, Beijing, Hong Kong, Korea, Japan, Philippines, Thailand, and Indonesia. Data were compared with patients with AD in the first registration using the UDS version 1.0 from 2010-2014 in the same regions. RESULTS: A total of 1885 patients with AD and their informants were recruited from 2022 to 2024 and were compared with 2042 patients recruited a decade prior. Each country had its own unique characteristics that changed between both eras. The mean age of the patients and informants was 79.8±8.2 years and 56.5±12.1 years, respectively. Compared with the first registration, the patients were older (79.8 vs 79.0, p=0.002) and had worse global function (mean CDR-SB scores 6.1 vs 5.8, p<0.001); more informants were children (56 % vs. 48 %, p<0.001), and their frequency of in-person visits increased significantly if not living together. A total of 11 %, 4.5 %, 11 %, and 0.4 % of the patients had a reported history of cognitive impairment in their mothers, fathers, siblings, and children, respectively; all percentages, except children, increased significantly over the past decade. CONCLUSION: The present study reports the heterogeneous characteristics of patients with AD and their informants in Asian countries, and the distinct changes in the past decade. The differences in dementia evaluation and care between developing and developed countries warrant further investigation.

Family history and genetic risk score combined to guide cancer risk stratification: A prospective cohort study.

Family history (FH) of cancer and polygenic risk scores (PRS) are pivotal for cancer risk assessment, yet their combined impact remains unclear. Participants in the UK Biobank (UKB) were recruited between 2006 and 2010, with complete follow-up data updated until February 2020 for Scotland and January 2021 for England and Wales. Using UKB data (N = 442,399), we constructed PRS and incidence-weighted overall cancer PRS (CPRS). FH was assessed through self-reported standardized questions. Among 202,801 men (34.6% with FH) and 239,598 women (42.0% with FH), Cox regression was used to examine the associations between FH, PRS, and cancer risk. We found a significant dose-response relationship between FH of cancer and corresponding cancer risk (Ptrend < .05), with over 10 significant pairs of cross-cancer effects of FH. FH and PRS are positively correlated and independent. Joint effects of FH of cancer (multiple cancers) and PRS (CPRS) on corresponding cancer risk were observed: for instance, compared with participants with no FH of cancer and low PRS, men with FH of cancer and high PRS had the highest risk of colorectal cancer (hazard ratio [HR]: 3.69, 95% confidence interval [CI]: 3.01-4.52). Additive interactions were observed in prostate and overall cancer risk for men and breast cancer for women, with the most significant result being a relative excess risk of interaction (RERI) of 2.98, accounting for ~34% of the prostate cancer risk. In conclusion, FH and PRS collectively contribute to cancer risk, supporting their combined application in personalized risk assessment and early intervention strategies.

Prevalence of Non-communicable Disease Risk Factors Among Adults in a Rural Field Practice Area of a Tertiary Care Medical Center in Karnataka.

Background Non-communicable diseases (NCDs), also referred to as chronic diseases, typically have a long duration and arise from a combination of genetic, physiological, environmental, and behavioral factors. Each year, 17 million people under the age of 70 die from non-communicable diseases (NCDs), with 86% of these premature deaths occurring in low- and middle-income countries. Objectives To estimate the prevalence of NCD risk factors among adults (18-65 years) in a rural population. Methods A cross-sectional study was conducted by selecting 200 participants from 200 households using convenience sampling. Participants aged 18-65 years were included, and locked households were excluded. Sociodemographic profiles were assessed using semi-structured questionnaires, and NCD risk factors were assessed using a Community-Based Assessment Checklist (CBAC). Descriptive statistics and associations were analyzed. Results The majority of participants were men (53.5%), married (89.5%), and belonged to the class 2 socioeconomic classification. The prevalence of NCD risk factors was 17%, with smoking (12.5%), alcohol consumption (6%), and waist circumference (1.8% for men and 27.9% for women) being the most common risk factors. Older age, lower educational attainment, unemployment, and lower-income classes were associated with a higher risk of NCDs. Conclusion The study identifies key risk factors for non-communicable diseases (NCDs) as family history, waist circumference over 90 cm, daily alcohol consumption, and tobacco use, all significantly increasing the risk. Physical activity under 150 minutes per week and occupational exposure to crop residue showed no significant effect.

Effect of family history of cancer on postoperative survival in patients with non-small cell lung cancer.

Background: Family history of cancer (FHC) has been reported to increase mortality of non-small cell lung cancer, mainly comprised of lung adenocarcinoma (LUAD) and lung squamous cell carcinoma (LUSC). However, the impact of FHC on long-term survival remains controversial. This study aims to identify the impact of FHC on postoperative survival in LUAD and LUSC. Methods: Patients underwent lung resection for LUAD or LUSC in West China Hospital from 2009 to 2021 were enrolled. The 5-year overall survival (OS), lung cancer-specific survival (LCSS) and progression-free survival (PFS) were compared between the patients with and without FHC. Multivariable Cox regression was also performed. Results: A total of 6,253 patients were enrolled, including 5,685 LUAD and 568 LUSC. Altogether 18.9% (1,077/5,685) patients had FHC in LUAD, and 12.7% (72/568) patients had FHC in LUSC. In LUAD, the patients with FHC showed comparable survival compared with the patients without FHC regarding 5-year OS (87.9% vs. 86.5%, P=0.49), 5-year PFS (84.8% vs. 80.9%, P=0.06), and 5-year LCSS (89.2% vs. 88.0%, P=0.96). In LUSC, the patients with FHC had poorer survival compared with the patients without FHC according to 5-year OS (40.9% vs. 68.2%, P=0.007), 5-year PFS (42.3% vs. 66.2%, P=0.003), and 5-year LCSS (45.8% vs. 72.7%, P=0.003). Multivariate analyses indicated that FHC was an independent prognostic factor of OS, PFS, and LCSS in the patients with LUSC. Conclusions: FHC was associated with a poor survival after lung resection in LUSC not LUAD patients. More attention should be paid in postoperative monitoring and treatment in LUSC patients with FHC.