Well-Being of Children and Families in COVID-19 Hotspots in Chicago.

BACKGROUND: Families in high-risk communities for COVID-19 transmission experienced a disproportionate burden during the pandemic. This study assessed these families' needs, changes in children's well-being, and perceptions related to the pandemic. METHODS: Four online surveys were administered January 2021 to September 2021 to parents of students, enrolled in parochial, kindergarten-eighth grade schools in Chicago neighborhoods with higher COVID-19 incidence rates by ZIP code, compared to the city average, and higher resource need. RESULTS: The response rate was 69.1% (n = 186 of 269) in the baseline survey; and other surveys were at 1 (n = 151), 3 (n = 145), and 5 months (n = 154). Of the sample, 83% of parents identified as Hispanic/Latinx with a mean age of 38.3 years (SD: 8.5). Approximately a quarter of parents reported difficulty paying cable and internet bills (26%) and paying utilities (25%). Parents reported children as happy (94% and 95%, p = .59) and hopeful (96% and 95%, p = .74) at 1-month (February to May 2021) and 5-month surveys (June to September 2021). Parents also reported fewer children were irritable (29% vs 19%, p = .03), felt lonely (17% vs 10%, p = .03), and felt isolated (28% vs 9%, p < .001) between those survey waves. The majority (67%) of parents felt that their child had no difficulty wearing a mask in public. CONCLUSIONS: In this longitudinal study, Chicago parents rated children's well-being highly and reported a decrease in negative emotions over time. The areas of need identified may be particularly relevant for outreach and providing resources to Hispanic/Latino families in future emergencies or global health threats.

[Clinical characteristics and presentation form in patients with venous thromboembolism and negative or weakly positive D-dimer]. / Características clínicas y forma de presentación en pacientes con enfermedad tromboembólica venosa y dímero-D negativo o débilmente positivo.

INTRODUCTION: D-dimer has a high negative predictive value for the diagnosis of venous thromboembolic disease (VTE). However, VTE has been reported in the presence of normal D-dimer values. METHODS: This is a prospective observational study in patients with VTE from Hospital Gregorio Marañón between 2001 and 2022, comparing the characteristics of clinical presentation based on D-dimer levels (<500 ng/mL vs. ≥500 ng/mL). RESULTS: A total of 2582 patients were found, 333 patients (12.9%) presented negative or weakly positive D-dimer levels. They were significantly younger (57.9 vs. 65.3 years), with a lower prevalence of comorbidities (ischemic heart disease, dementia, and chronic kidney disease), and a greater family history of VTE (8.4% vs. 5.2%) and thrombophilia (11.7% vs. 7.8%). They presented significantly less dyspnea (57.6% vs. 75.4%), syncope (3% vs. 13.5%), less thrombotic load, elevated NT-pro-BNP (22.0% vs. 48.2%), and right ventricle dilatation (8.1% vs. 30.0%). CONCLUSION: Patients with VTE and low D-dimer levels at diagnosis were younger, with milder clinical presentation and lower thrombotic load; but they presented a higher prevalence of thrombophilia and a family history of VTE.

Prevalence and Cumulative Risk of Familial Idiopathic Dilated Cardiomyopathy.

Importance: Idiopathic dilated cardiomyopathy (DCM) aggregates in families, and early detection in at-risk family members can provide opportunity to initiate treatment prior to late-phase disease. Most studies have included only White patients, yet Black patients with DCM have higher risk of heart failure-related hospitalization and death. Objective: To estimate the prevalence of familial DCM among DCM probands and the age-specific cumulative risk of DCM in first-degree relatives across race and ethnicity groups. Design, Setting, and Participants: A family-based, cross-sectional study conducted by a multisite consortium of 25 US heart failure programs. Participants included patients with DCM (probands), defined as left ventricular systolic dysfunction and left ventricular enlargement after excluding usual clinical causes, and their first-degree relatives. Enrollment commenced June 7, 2016; proband and family member enrollment concluded March 15, 2020, and April 1, 2021, respectively. Exposures: The presence of DCM in a proband. Main Outcomes and Measures: Familial DCM defined by DCM in at least 1 first-degree relative; expanded familial DCM defined by the presence of DCM or either left ventricular enlargement or left ventricular systolic dysfunction without known cause in at least 1 first-degree relative. Results: The study enrolled 1220 probands (median age, 52.8 years [IQR, 42.4-61.8]; 43.8% female; 43.1% Black and 8.3% Hispanic) and screened 1693 first-degree relatives for DCM. A median of 28% (IQR, 0%-60%) of living first-degree relatives were screened per family. The crude prevalence of familial DCM among probands was 11.6% overall. The model-based estimate of the prevalence of familial DCM among probands at a typical US advanced heart failure program if all living first-degree relatives were screened was 29.7% (95% CI, 23.5% to 36.0%) overall. The estimated prevalence of familial DCM was higher in Black probands than in White probands (difference, 11.3% [95% CI, 1.9% to 20.8%]) but did not differ significantly between Hispanic probands and non-Hispanic probands (difference, -1.4% [95% CI, -15.9% to 13.1%]). The estimated prevalence of expanded familial DCM was 56.9% (95% CI, 50.8% to 63.0%) overall. Based on age-specific disease status at enrollment, estimated cumulative risks in first-degree relatives at a typical US advanced heart failure program reached 19% (95% CI, 13% to 24%) by age 80 years for DCM and 33% (95% CI, 27% to 40%) for expanded DCM inclusive of partial phenotypes. The DCM hazard was higher in first-degree relatives of non-Hispanic Black probands than non-Hispanic White probands (hazard ratio, 1.89 [95% CI, 1.26 to 2.83]). Conclusions and Relevance: In a US cross-sectional study, there was substantial estimated prevalence of familial DCM among probands and modeled cumulative risk of DCM among their first-degree relatives. Trial Registration: ClinicalTrials.gov Identifier: NCT03037632.

Familial Segregation of Venous Thromboembolism in Sweden: A Nationwide Family Study of Heritability and Complex Segregation Analysis.

Background This is the first nationwide segregation analysis that aimed to determine whether familial venous thromboembolism (VTE) is attributable to inheritance and/or shared environment, and the possible mode of inheritance. Methods and Results The Swedish Multi-Generation Register was linked to the Swedish patient register for the period 1964 to 2015. Three generational families of Swedish-born individuals were identified. Heritability was examined using Falconer regression. Complex segregation analysis was conducted using the Statistical Analysis for Genetic Epidemiology software (version 6.4, 64-bit Linux). Among the 4 301 174 relatives from 450 558 pedigrees, 177 865 (52% women) individuals were affected with VTE. VTE occurred in 2 or more affected relatives in 61 217 (13.6%) of the pedigrees. Heritability showed age and sex dependence with higher heritability for men and young individuals. In 18 933 pedigrees, VTE occurred only in the first generation and was not inherited. Segregation analysis was performed in the remaining 42 284 pedigrees with inherited VTE and included 939 192 individuals. Prevalence constraints were imposed in the models to allow for the selection of the pedigrees analyzed. The sporadic nongenetic model could be discarded. The major-type-only model, with a correlation structure compatible with some polygenic effects, was the preferred model. Among the Mendelian models, the mixed codominant (plus polygenic) model was preferred. Conclusions This nationwide segregation analysis of VTE supports a genetic cause of the familial aggregation of VTE. Heritability was higher for men and younger individuals, suggesting a Carter effect, in agreement with a multifactorial threshold inheritance.

Chronic use of hydroxychloroquine did not protect against COVID-19 in a large cohort of patients with rheumatic diseases in Brazil.

BACKGROUND: There is a lack of information on the role of chronic use of hydroxychloroquine during the SARS-CoV-2 outbreak. Our aim was to compare the occurrence of COVID-19 between rheumatic disease patients on hydroxychloroquine with individuals from the same household not taking the drug during the first 8 weeks of community viral transmission in Brazil. METHODS: This baseline cross-sectional analysis is part of a 24-week observational multi-center study involving 22 Brazilian academic outpatient centers. All information regarding COVID-19 symptoms, epidemiological, clinical, and demographic data were recorded on a specific web-based platform using telephone calls from physicians and medical students. COVID-19 was defined according to the Brazilian Ministry of Health (BMH) criteria. Mann-Whitney, Chi-square and Exact Fisher tests were used for statistical analysis and two binary Final Logistic Regression Model by Wald test were developed using a backward-stepwise method for the presence of COVID-19. RESULTS: From March 29th to May 17st, 2020, a total of 10,443 participants were enrolled, including 5166 (53.9%) rheumatic disease patients, of whom 82.5% had systemic erythematosus lupus, 7.8% rheumatoid arthritis, 3.7% Sjögren's syndrome and 0.8% systemic sclerosis. In total, 1822 (19.1%) participants reported flu symptoms within the 30 days prior to enrollment, of which 3.1% fulfilled the BMH criteria, but with no significant difference between rheumatic disease patients (4.03%) and controls (3.25%). After adjustments for multiple confounders, the main risk factor significantly associated with a COVID-19 diagnosis was lung disease (OR 1.63; 95% CI 1.03-2.58); and for rheumatic disease patients were diagnosis of systemic sclerosis (OR 2.8; 95% CI 1.19-6.63) and glucocorticoids above 10 mg/ day (OR 2.05; 95% CI 1.31-3.19). In addition, a recent influenza vaccination had a protective effect (OR 0.674; 95% CI 0.46-0.98). CONCLUSION: Patients with rheumatic disease on hydroxychloroquine presented a similar occurrence of COVID-19 to household cohabitants, suggesting a lack of any protective role against SARS-CoV-2 infection. Trial registration Brazilian Registry of Clinical Trials (ReBEC; RBR - 9KTWX6).

Association between a family history of diabetes and carotid artery atherosclerosis in Korean adults.

OBJECTIVES: Diabetes is a well-known risk factor for atherosclerosis, but the association between a family history of diabetes and atherosclerosis remains unknown. In this study, we assessed the association between a family history of diabetes and increased carotid intima-media thickness (IMT), a marker of subclinical atherosclerosis, in a middle-aged Korean population. METHODS: This cross-sectional study included 3,974 community-dwelling adults (1,404 male and 2,570 female) aged 30-64 years from the Cardiovascular and Metabolic Diseases Etiology Research Center cohort. The presence of a family history of diabetes was assessed through face-to-face interviews using a standardized questionnaire. Carotid IMT was assessed using B-mode ultrasonography, and increased IMT was defined as a value in the top quartile of the IMT values of all participants. Multivariate logistic regression was used to evaluate independent associations between a family history of diabetes and increased IMT. RESULTS: A family history of diabetes was significantly associated with increased carotid IMT (odds ratio, 1.23; 95% confidence interval, 1.03 to 1.48) after adjusting for sex; age; body mass index; systolic blood pressure; total cholesterol, triglyceride, and hemoglobin A1c levels; smoking; alcohol consumption; exercise; use of antidiabetic, antihypertensive, and antilipidemic drugs; and a family history of hypertension. The positive association remained significant after excluding participants with diabetes (odds ratio, 1.21; 95% confidence interval, 1.00 to 1.47). CONCLUSIONS: A family history of diabetes was positively associated with increased carotid IMT, even in participants without diabetes. Therefore, information on a family history of diabetes may help identify individuals at high risk of atherosclerotic cardiovascular disease.

Impacts of Neonatal Hospitalization on Families during the 2019 Coronavirus Pandemic.

OBJECTIVE: Limited data are available regarding family and financial well-being among parents whose infants were hospitalized during the 2019 coronavirus (COVID-19) pandemic. The study objective was to evaluate the family and financial well-being of parents whose infants were hospitalized in the neonatal intensive care unit (NICU) during COVID-19. STUDY DESIGN: Parents were recruited for this online, cross-sectional survey via support groups on social media. Data collection was completed between May 18, 2020 and July 31, 2020. The final sample consisted of 178 parents, who had an infant hospitalized in an NICU between February 1, 2020 and July 31, 2020. The primary outcomes were impact on family life and financial stability, as measured by the Impact on Family scale, an instrument that evaluates changes to family life as a result of infant or childhood illness. RESULTS: Of the 178 parent respondents, 173 (97%) were mothers, 107 (59.4%) were non-Hispanic White, and 127 (69.5%) of the infants were born prematurely. Parents reported significant family impact and greater financial difficulty. Extremely premature infants, lower household income, parent mental health, and lower parental confidence were predictive of greater impacts on family life. CONCLUSION: Parents reported significant family and financial impacts during their infant's hospitalization amid COVID-19. Further studies are needed to guide clinical practice and inform family-supportive resources that can mitigate consequences to family well-being. KEY POINTS: · Impact of infant hospitalization in the context of COVID-19 is largely unknown.. · In a cohort of NICU parents during COVID-19, they reported changes to family life and finances.. · Greater impacts were reported by parents with lower income, confidence, and very premature infants..

Effects of younger siblings on the brace compliance and recurrence in children with clubfoot during Ponseti treatment.

OBJECTIVE: This study aimed to determine the effects of the number of total siblings, younger siblings, and complex clubfoot deformity on the brace compliance and recurrence in the management of children with clubfoot deformity using the Ponseti technique. METHODS: The data from 91 children, including 22 girls and 69 boys (total 130 idiopathic clubfeet), seen from 2016 to 2019 were prospectively collected and retrospectively reviewed. The deformity was unilateral in 52 (57.1%) children (32 right, 20 left) and bilateral in 39 (42.9%). The mean age at presentation was 2 (range, 1-30) weeks, and the mean follow-up was 21.5 (range, 12-36) months. All the clubfeet were treated according to the Ponseti method. After removing the cast, a foot abduction brace (Dennis Brown splint) was worn. A complex clubfoot deformity was identified in 12% (n=11) children. At the follow-up, the Pirani score, recurrence status, and brace compliance were recorded. Recurrent deformity was defined as any deformity recurrence requiring manipulation, recasting, or surgical treatment. Brace compliance was assessed per the parents' report. RESULTS: The median number of children in a family was 3 (range, 1-12). A total of 53 (58.2%) parents had up to 3 children, and 38 (41.8%) parents had more than 3 children. Of the patients, 22 (24.2%) had younger siblings and 25 (26.4%) had a family history of clubfoot. A total of 58 feet (44.6%) in 40 children (43.9%) developed recurrence. Brace non-compliance was the main risk factor for recurrence, increasing the recurrence rate 32-fold compared with that of compliant parents (odds ratio [OR], 32.67, 95% confidence interval [CI], 10.02-106.49; p=0.001). The rate of non-compliance with brace use was 51.6% (n=47). Brace non-compliance was significantly associated with having a younger sibling (OR, 3.9; 95% CI, 1.36-11.2; p=0.011) and having a complex deformity (OR, 11.62; 95% CI, 1.42-95.1; p=0.022) but was not associated with the total number of children (OR, 1.61; 95% CI, 0.7-3.73; p=0.265). CONCLUSION: Our study shows that having new siblings in the first years of the Ponseti treatment may increase the brace non-compliance by minimizing the attention paid to the children with clubfeet by their parents. Nonetheless, complex clubfoot deformity may promote brace compliance by increasing the parents' interest during the treatment process. LEVEL OF EVIDENCE: Level IV, Therapeutic Study.

Acquisition of oral microbiota is driven by environment, not host genetics.

BACKGROUND: The oral microbiota is acquired very early, but the factors shaping its acquisition are not well understood. Previous studies comparing monozygotic (MZ) and dizygotic (DZ) twins have suggested that host genetics plays a role. However, all twins share an equal portion of their parent's genome, so this model is not informative for studying parent-to-child transmission. We used a novel study design that allowed us to directly examine the genetics of transmission by comparing the oral microbiota of biological versus adoptive mother-child dyads. RESULTS: No difference was observed in how closely oral bacterial community profiles matched for adoptive versus biological mother-child pairs, indicating little if any effect of host genetics on the fidelity of transmission. Both adopted and biologic children more closely resembled their own mother as compared to unrelated women, supporting the role of contact and environment. Mother-child strain similarity increased with the age of the child, ruling out early effects of host genetic influence that are lost over time. No effect on the fidelity of mother-child strain sharing from vaginal birth or breast feeding was seen. Analysis of extended families showed that fathers and mothers were equally similar to their children, and that cohabitating couples showed even greater strain similarity than mother-child pairs. These findings support the role of contact and shared environment, and age, but not genetics, as determinants of microbial transmission, and were consistent at both species and strain level resolutions, and across multiple oral habitats. In addition, analysis of individual species all showed similar results. CONCLUSIONS: The host is clearly active in shaping the composition of the oral microbiome, since only a few of the many bacterial species in the larger environment are capable of colonizing the human oral cavity. Our findings suggest that these host mechanisms are universally shared among humans, since no effect of genetic relatedness on fidelity of microbial transmission could be detected. Instead our findings point towards contact and shared environment being the driving factors of microbial transmission, with a unique combination of these factors ultimately shaping the highly personalized human oral microbiome. Video abstract.

Clinical characteristics and outcomes of 48 patients hospitalized for COVID-19 infection in Wuxi: A retrospective cohort study.

ABSTRACT: Since the first infected case of Coronavirus Disease 2019 (COVID-19) was reported in Wuhan, China in December 2019, the virus has spread swiftly, inflicting upon millions of people around the globe. The objective of the study is to investigate and analyze the clinical characteristics and outcomes of patients infected with COVID-19 in Wuxi, China.Cross-sectional study.The Fifth People's Hospital of Wuxi, China.A total of 48 COVID-19 patients were enrolled in the study from 23 January 2020 to 8 March 2020, and the clinical data of these subjects were collected.Epidemiological, clinical, laboratory, and radiologic characteristics, as well as treatment and outcome data, were collected and analyzed.Of these 48 patients with confirmed COVID-19, 3 were mild cases (6.3%), 44 were moderate cases (91.7%), 1 was severe case (2.1%). The median age of the subjects was 45 years (interquartile range [IQR], 24-59; range, 5-75 years). Twenty-five of the patients (52.1%) were male and 23 (47.9%) were female. Twenty-eight cases (58.3%) returned to Wuxi, Jiangsu Province. Thirty-four (70.8%) cases were infected due to clustering epidemic and 29 cases (85.3%) were attributable to family-clustering epidemic. No obvious clinical symptoms were observed in the cohort of patients, except for 3 mild cases. The most common symptoms include fever (41 [85.4%]), cough (28 [58.3%]), asthenia (13 [27.1%]), expectoration (11 [22.9%]), diarrhea (10 [20.8%]), and dyspnea (5 [10.4%]). Seventeen (35.4%) patients had lower lymphocyte values than baseline, 31 patients (64.6%) had higher d-dimers to exceed the normal range. The distribution of high-resolution computed tomography (HRCT)-positive lesions were as follows: left lung in 5 cases (10.4%), right lung in 9 cases (18.8%), and bilateral lungs in 31 cases (64.6%). In terms of density of lesions: 28 cases (58.3%) showed ground glass shadows in the lung, 7 cases (14.6%) showed solid density shadows, and 10 cases (20.8%) showed mixed density shadows. Extrapulmonary manifestations found that mediastinal lymph nodes were enlarged in 2 cases (4.2%) and that pleural effusion was present in 1 case (2.1%). All patients underwent treatment in quarantine. Forty-five (93.8%) patients received antiviral treatments, 22 (45.8%) patients received antibacterial treatments, 6 (12.5%) patients received glucocorticoid treatments, 2 (4.2%) patients received high flow oxygen inhalation treatments, and 6 (12.5%) patients received noninvasive ventilation treatments. As of 8 March 2020, all 48 patients included in this study were cured. The average time of hospitalization of the 48 patients was 18 ±â€Š6 (mean ±â€ŠSD) days, the average time of the lesion resorption was 11 ±â€Š4 days, and the average time taken to achieve negativity in the result of nucleic acid examination was (10 ±â€Š4) days.The epidemiological characteristics of 48 COVID-19 patients in Wuxi were mainly imported cases and clustered cases. The clinical manifestations of these patients were mainly fever and cough. Laboratory results showed that the lymphocytopenia and increased d-dimer are positively correlated with disease severity. Pulmonary imaging showed unilateral or bilateral ground glass infiltration. Most of the patients entered clinical recovery stage within 15 days after hospitalization.

Examining the impacts of the COVID-19 pandemic on family mental health in Canada: findings from a national cross-sectional study.

OBJECTIVES: In the first wave of the COVID-19 pandemic, social isolation, school/child care closures and employment instability have created unprecedented conditions for families raising children at home. This study describes the mental health impacts of the COVID-19 pandemic on families with children in Canada. DESIGN, SETTING AND PARTICIPANTS: This descriptive study used a nationally representative, cross-sectional survey of adults living in Canada (n=3000) to examine the mental health impacts of the COVID-19 pandemic. Outcomes among parents with children <18 years old living at home (n=618) were compared with the rest of the sample. Data were collected via an online survey between 14 May to 29 May 2020. OUTCOME MEASURES: Participants reported on changes to their mental health since the onset of the pandemic and sources of stress, emotional responses, substance use patterns and suicidality/self-harm. Additionally, parents identified changes in their interactions with their children, impacts on their children's mental health and sources of support accessed. RESULTS: 44.3% of parents with children <18 years living at home reported worse mental health as a result of the COVID-19 pandemic compared with 35.6% of respondents without children <18 living at home, χ2 (1, n=3000)=16.2, p<0.001. More parents compared with the rest of the sample reported increased alcohol consumption (27.7% vs 16.1%, χ2 (1, n=3000)=43.8, p<0.001), suicidal thoughts/feelings (8.3% vs 5.2%, χ2 (1, n=3000)=8.0, p=0.005) and stress about being safe from physical/emotional domestic violence (11.5% vs 7.9%, χ2 (1, n=3000)=8.1, p=0.005). 24.8% (95% CI 21.4 to 28.4) of parents reported their children's mental health had worsened since the pandemic. Parents also reported more frequent negative as well as positive interactions with their children due to the pandemic (eg, more conflicts, 22.2% (95% CI 19.0 to 25.7); increased feelings of closeness, 49.7% (95% CI 45.7 to 53.7)). CONCLUSIONS: This study identifies that families with children <18 at home have experienced deteriorated mental health due to the pandemic. Population-level responses are required to adequately respond to families' diverse needs and mitigate the potential for widening health and social inequities for parents and children.

Mental health in biological disasters: From SARS to COVID-19.

BACKGROUND: The outbreak of coronavirus disease 2019 (COVID-19), like severe acute respiratory syndrome (SARS), provokes fear, anxiety and depression in the public, which further affects mental health issues. Taiwan has used their experience of the SARS epidemic for the management of foreseeable problems in COVID-19 endemic. AIM/OBJECTIVE: This review summarizes issues concerning mental health problems related to infectious diseases from current literatures. RESULTS: In suspected cases under quarantine, confirmed cases in isolation and their families, health care professionals, and the general population and related effective strategies to reduce these mental health issues, such as helping to identify stressors and normalizing their impact at all levels of response as well as public information and communication messages by electronic devices. The importance of community resilience was also addressed. Psychological first aid, psychological debriefing, mental health intervention and psychoeducation were also discussed. Issues concerning cultures and religions are also emphasized in the management plans. CONCLUSION: Biological disaster like SARS and COVID-19 not only has strong impact on mental health in those being infected and their family, friends, and coworkers, but also affect wellbeing in general public. There are evidenced that clear and timely psychoeducation, psychological first aid and psychological debriefing could amileorate negative impact of disaster, thus might also be helpful amid COVID-19 pandemic.

Sleep of preschoolers during the coronavirus disease 2019 (COVID-19) outbreak.

Coronavirus disease 2019 (COVID-19) has resulted in a significantly large number of psychological consequences, including sleep health. The present study evaluated sleep patterns, sleep disturbances, and associated factors in Chinese preschoolers confined at home during the COVID-19 outbreak. Caregivers of 1619 preschoolers (aged 4-6 years) recruited from 11 preschools in Zunyi, Guizhou province completed the Children's Sleep Habit Questionnaire (CSHQ) between 17th and 19th February 2020. Data were compared to a sociodemographically similar sample of preschoolers (included in the 11 preschools) in 2018. Compared to the 2018 sample, the confined preschoolers demonstrated changes in sleep patterns characterized by later bedtimes and wake times, longer nocturnal and shorter nap sleep durations, comparable 24-hr sleep duration, and fewer caregiver-reported sleep disturbances. Moreover, behavioural practices (sleeping arrangement, reduced electronic device use, regular diet) and parenting practices (harmonious family atmosphere and increased parent-child communication) were associated with less sleep disturbances in the confined sample. The present study provides the first description of the impact of prolonged home confinement during the COVID-19 outbreak on sleep patterns and sleep disturbances in preschoolers, as well as highlighting the importance of the link between sleep health and family factors. Given that disrupted and insufficient sleep has been linked to immune system dysfunction, our findings also have potential implications for resilience to infection in young children during the COVID-19 pandemic. Future studies should further explore deficient sleep as a risk factor for coronavirus infection.

Improving primary care identification of familial breast cancer risk using proactive invitation and decision support.

Family history of breast cancer is a key risk factor, accounting for up to 10% of cancers. We evaluated the proactive assessment of familial breast cancer (FBC) risk in primary care. Eligible women (30 to 60 years) were recruited from eight English general practices. Practices were trained on FBC risk assessment. In four randomly-assigned practices, women were invited to complete a validated, postal family history questionnaire, which practice staff inputted into decision support software to determine cancer risk. Those with increased risk were offered specialist referral. Usual care was observed in the other four practices. In intervention practices, 1127/7012 women (16.1%) returned family history questionnaires, comprising 1105 (98%) self-reported white ethnicity and 446 (39.6%) educated to University undergraduate or equivalent qualification, with 119 (10.6%) identified at increased breast cancer risk and offered referral. Sixty-seven (56%) women recommended referral were less than 50 years old. From 66 women attending specialists, 26 (39.4%) were confirmed to have high risk and recommended annual surveillance (40-60 years) and surgical prevention; while 30 (45.5%) were confirmed at moderate risk, with 19 offered annual surveillance (40-50 years). The remaining 10 (15.2%) managed in primary care. None were recommended chemoprevention. In usual care practices, only ten women consulted with concerns about breast cancer family history. This study demonstrated proactive risk assessment in primary care enables accurate identification of women, including many younger women, at increased risk of breast cancer. To improve generalisability across the population, more active methods of engagement need to be explored.Trial registration: CRUK Clinical Trials Database 11779.

Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism.

Dozens of genes are associated with idiopathic hypogonadotropic hypogonadism (IHH) and an oligogenic etiology has been suggested. However, the associated genes may account for only approximately 50% cases. In addition, a genomic systematic pedigree analysis is still lacking. Here, we conducted whole exome sequencing (WES) on 18 unrelated men affected by IHH and their corresponding parents. Notably, one reported and 10 novel variants in eight known IHH causative genes (AXL, CCDC141, CHD7, DMXL2, FGFR1, PNPLA6, POLR3A, and PROKR2), nine variants in nine recently reported candidate genes (DCAF17, DCC, EGF, IGSF10, NOTCH1, PDE3A, RELN, SLIT2, and TRAPPC9), and four variants in four novel candidate genes for IHH (CCDC88C, CDON, GADL1, and SPRED3) were identified in 77.8% (14/18) of IHH cases. Among them, eight (8/18, 44.4%) cases carried more than one variant in IHH-related genes, supporting the oligogenic model. Interestingly, we found that those variants tended to be maternally inherited (maternal with n = 17 vs paternal with n = 7; P = 0.028). Our further retrospective investigation of published reports replicated the maternal bias (maternal with n = 46 vs paternal with n = 28; P = 0.024). Our study extended a variant spectrum for IHH and provided the first evidence that women are probably more tolerant to variants of IHH-related genes than men.

Role of children in household transmission of COVID-19.

OBJECTIVE: Transmissibility of COVID-19 by children in the household is not clear. Herein, we describe children's role in household transmission of COVID-19. DESIGN AND SETTING: All paediatric COVID-19 index cases and their household members reported from 20 January to 6 April 2020 in South Korea were reviewed. The secondary attack rate (SAR) from child index case to household secondary case was calculated. Epidemiological and clinical findings of child index case-household secondary case pair was assessed. RESULTS: A total of 107 paediatric COVID-19 index cases and 248 of their household members were identified. One pair of paediatric index-secondary household case was identified, giving a household SAR of 0.5% (95% CI 0.0% to 2.6%). The index case was self-quarantined at home after international travel, stayed in her room, but shared a meal table with the secondary case. CONCLUSION: The SAR from children to household members was low in the setting of social distancing, underscoring the importance of rigorous contact tracing and early isolation in limiting transmission within households.

Family influence on the nutritional status and eating habits of six to nine year-old children / Influência familiar no estado nutricional e hábito alimentar de crianças de seis a nove anos

ABSTRACT Objective To investigate whether caregivers' attitudes, beliefs, practices, alimentary habits, and nutritional status influence the alimentary habits and nutritional status of children aged six to nine years. Methods This cross-sectional study included 164 children and a family member (caregiver) each (n=164), carried out in the family health units of the municipality of Ribeirão Preto (SP), Brazil. Weight and height measurements were performed; each child was then evaluated by the application of both the Child Feeding Questionnaire and 24h recall (for calculating the Healthy Eating Index Revised), in addition to the assessment of adherence to healthy eating steps of the Ministry of Health, through a questionnaire. Results The results showed that the prevalence of being overweight was 18.3% in children and 32.9% in caregivers, and the prevalence of obesity was 15.9% and 37.9%, respectively. Most of the 56 children categorized as overweight also had overweight caregivers (82.1%; n=46). Concerns regarding children's weight control were higher among caregivers responsible for overweight children (3.6±1.29). In contrast, caregivers responsible for children below or at normal weight demonstrated a greater tendency toward getting children to eat (3.3±0.97 and 3.9±0.99, respectively). The average score; of the children's Brazilian Healthy Eating Index Revised (50.0±13.6) was similar to that of their caregivers (56.5±12.1). Conclusions Caregivers have a direct influence on the nutritional status and eating habits of children; therefore, they should be targeted in the processes of nutritional intervention for the prevention and treatment of childhood obesity.

RESUMO Objetivo Este estudo se propôs a investigar se atitudes, crenças, práticas, hábitos alimentares e estado nutricional dos responsáveis influenciam os hábitos alimentares e o estado nutricional de crianças de 6 a 9 anos. Methods Estudo transversal com 164 crianças e um respectivo responsável por sua alimentação (n=164), desenvolvido em Unidades de Saúde da Família do município de Ribeirão Preto (SP). Realizaram-se aferição de peso e estatura, aplicação do Questionário de Alimentação da Criança e Recordatório Alimentar de 24 horas (para cálculo do Índice de Qualidade da Dieta Revisado), além de verificação da adesão aos Passos da Alimentação Saudável do Ministério da Saúde, por meio de um questionário. Results Os resultados obtidos mostraram que as prevalências de sobrepeso foram de 18,3% nas crianças e de 32,9% nos responsáveis, e as prevalências de obesidade foram de 15,9% e 37,9%, respectivamente. Os responsáveis da maioria das 56 crianças que apresentaram excesso de peso também tinham excesso de peso (82,1%; n=46). A preocupação com o peso da criança foi maior entre os responsáveis das crianças acima do peso (3,6±1,29). Por outro lado, uma maior pressão para comer foi identificada entre os responsáveis com crianças com baixo peso ou peso normal (3,3±0,97 e 3,9±0,99, respectivamente). O escore médio do Índice de Qualidade da Dieta Revisado das crianças (50,0±13,6) foi muito similar ao dos responsáveis (56,5±12,1). Conclusions Os responsáveis exercem influência direta no estado nutricional e hábitos alimentares das crianças, devendo ser alvos nos processos de intervenção nutricional para a prevenção e o tratamento da obesidade infantil.

Factors Associated with Choice of Career in Family Medicine Among Junior Doctors in Oman.

OBJECTIVES: The number of family physicians in Oman is far below that recommended by the World Health Organization. This study aimed to determine factors influencing junior doctors' choice of a career in family medicine. METHODS: This cross-sectional study was conducted between March and June 2018 and targeted applicants to Oman Medical Specialty Board residency programmes during the 2018-2019 academic year. Applicants were grouped according to their choice of either family medicine (n = 64) or other specialities (n = 81). A self-administered questionnaire was utilised to compare the applicants' sociodemographic characteristics, factors influencing their choice of career and their Myers-Briggs Type Indicator® (MBTI) personality traits. RESULTS: A total of 52 family medicine and 43 other residency applicants participated in the study (response rates: 81.3% and 53.1%, respectively). Most family medicine applicants were female (86.5%), married (65.4%) and resided in rural areas (73.1%); moreover, 19.2% were ≥30 years of age. Overall, emphasis on continuity of care, opportunity to deal with a variety of medical problems, the ability to use a wide range of skills and knowledge, early exposure to the discipline, opportunity to teach and perform research and the influence of family or friends were important factors in determining choice of a career in family medicine. Moreover, the MBTI analysis revealed that family medicine applicants were commonly extroverted-sensing-thinking-judging personality types. CONCLUSION: Knowledge of the factors influencing career choice among junior doctors may be useful in determining future admission policies in order to increase the number of family physicians in Oman.