Breast cancer is the most common malignancy among women and has a strong genetic background. So far, 13 breast cancer susceptibility genes of high or moderate penetrance have been identified. This review summarizes findings on these genes in Han Chinese. BRCA1 and BRCA2 are the 2 most important susceptibility genes. They have a relatively low mutation rate, and the most frequent sites of mutation are in exon 11. Frameshift mutations are the main type of mutation. Founder mutations may also exist, and BRCA-associated breast cancer has specific clinicopathologic characteristics. TP53 and PALB2 are relatively rare susceptibility genes. The relationship between the other 9 genes and breast cancer has not been fully elucidated. At present, the mutation spectrum for these susceptibility genes is not well understood in the Chinese population, and there are few reports on prognosis and clinical intervention in high-risk populations. Therefore, the true value of genetic counseling for breast cancer has yet to be realized. This article reviews studies of hereditary breast cancer in the Han Chinese population, highlights potential inadequacies, and provides a foundation for genetic counseling for breast cancer in China.
Background: The incidence of congenital hypothyroidism (CH) has been increasing in Western countries, and some populations, including Asians, have a higher incidence. Delayed diagnosis and early treatment influence the outcome of CH. We investigated the incidence and clinical characteristics of CH in Taiwan. Methods: In this retrospective database study we identified cases of CH diagnosed during 1997–2008 in the Taiwan National Health Insurance Research Database (NHIRD). Patients who had a Serious Accidents and Diseases certificate were included in the incidence calculation. We focused on CH patients who were born during 1997–2003 and determined their age at diagnosis and CH-related clinical features. Mental retardation and physiological delays were evaluated with respect to age at diagnosis. Results: A total of 1482 cases were identified. Incidence during the 12-year period was 5.02 per 10 000 births. Among 1115 patients, the most common clinical features of CH were developmental delay (9.6%), constipation (11.6%), and delayed physiological development (9.1%). Congenital anomalies of the heart (7.7%), epilepsy (2.7%), and infantile cerebral palsy (3.2%) were also noted. Survival analysis showed that the risks of mental retardation (hazard ratio [HR], 3.180) and delayed physiological development (HR, 1.908) were greater when age at diagnosis was greater than 1 year. Conclusions: CH incidence was higher in Taiwan than in Western countries. Early diagnosis may decrease the risk of mental and physiological delay.
Background: Crimean–Congo hemorrhagic fever (CCHF) is a tick-borne infectious disease that has a considerable mortality risk and is a challenge for the population of endemic rural areas and health care workers. This study investigated the epidemiologic features and main risk factors of CCHF in Samsun Province, Turkey, using CCHF cases diagnosed from 2007 to 2011 recorded by the Samsun Provincial Health Directorate. Methods: In the study area, 126 cases were evaluated statistically and spatially. Minitab 16 software was used for statistical analysis of the data, and ArcGIS 9.3 software was used for spatial analysis. Results: Among those who received a diagnosis of CCHF, 69 (54.7%) were male, 57 (45.3%) were female, 114 (90.5%) were discharged, and 12 (9.5%) died. A total of 112 of the 126 (88.9%) cases occurred at an altitude higher than 600 m. In addition, 84.1% of cases were reported during May through July, which are the busiest months for those working in the agriculture and animal husbandry sectors. Conclusions: CCHF causes severe disease and has a high mortality rate (about 10% in Turkey). Early diagnosis of CCHF can be improved by periodic education of people at high risk, ie, men and women working in agriculture and animal husbandry in rural areas and those working in health care.
Background: Because of the lack of relevant data, we investigated the association between rapid weight gain (RWG) during early childhood and cardiovascular risk factors in Japanese adolescents. Methods: The source population comprised 2285 adolescents aged 13 to 14 years enrolled in any public school in Fukuroi City, Japan during 2008, 2009, or 2010. Since there are no private schools in this city, almost all adolescents who lived in the city went to 1 of these schools. We obtained data on blood pressure (BP), serum lipids, and anthropometry during adolescence, as well as anthropometry at birth, age 1.5 years, and age 3 years, from the Maternal and Child Health Handbook for 1624 children. RWG was defined as a change in body-weight standard deviation score greater than 0.67 from age 0 to 1.5 years or from age 1.5 to 3 years. Results: After adjusting for confounding factors, adolescents who had RWG from 0 to age 1.5 years or from age 1.5 to 3 years were more likely to be overweight. Adolescents who had RWG during both periods were more likely to be overweight (odds ratio [OR], 6.37; 95% CI, 3.06–13.24), have unfavorable lipid concentrations (OR, 2.03; 95% CI, 1.15–3.58), and have high BP (OR: 2.36, 95% CI: 1.34–4.13). The associations with unfavorable lipid concentrations and high BP disappeared after further adjusting for current body mass index. Conclusions: RWG during early childhood predicts unfavorable lipid concentrations and high BP in Japanese adolescents, and this relationship is mediated by body mass index in later life.
Background: We investigated the association between cardiovascular disease (CVD) and the risk of major osteoporotic fracture in Taiwan. Methods: Using the Taiwan National Health Insurance Database for the period 2000–2007, we classified 43 874 patients aged 50 years or older with newly diagnosed CVD (coronary artery disease, heart failure, cerebrovascular disease, or peripheral atherosclerosis) as the CVD group and 43 874 subjects without CVD (frequency-matched by sex, age, and date selected) as the non-CVD group. Incidence and hazard ratios (HRs) for major osteoporotic fracture of the spine, hip, humerus, and forearm/wrist were estimated for the period until the end of 2010. Results: After adjustment for confounders, the overall HRs for major osteoporotic fracture were 1.24 (95% CI = 1.13, 1.36) in men with CVD and 1.18 (95% CI = 1.11, 1.25) in women with CVD, as compared with the non-CVD group. As compared with the non-CVD group, the adjusted HR for major osteoporotic fracture was highest among subjects with cerebrovascular disease (HR 1.31; 95% CI 1.23, 1.39), followed by those with heart failure (HR 1.18; 95% CI 1.11, 1.27), peripheral atherosclerosis (HR 1.12; 95% CI 1.04, 1.20), and coronary artery disease (HR 1.07; 95% CI 1.01, 1.12). Conclusions: CVD is associated with risk of major osteoporotic fracture in men and women in Taiwan.
Background: The effect of active smoking on development of nonalcoholic fatty liver disease (NAFLD) is controversial, and there are limited clinical data on the relationship between passive smoking and NAFLD. We investigated whether active and passive smoking are associated with NAFLD. Methods: A total of 8580 subjects (2691 men) aged 40 years or older participated in a community-based survey in Shanghai, China. Information on active and passive smoking was collected using a validated questionnaire. NAFLD was diagnosed by abdominal B-mode ultrasound testing and serum liver enzymes. Results: NAFLD prevalence was 29.4% in never smokers, 34.2% in former smokers, 27.8% in light smokers (<20 cigarettes/day), 30.8% in moderate smokers (20–39 cigarettes/day), and 43.5% in heavy smokers (≥40 cigarettes/day). Fully adjusted logistic regression analyses revealed that, as compared with never smoking, former and heavy smoking were associated with increased risk of prevalent NAFLD, with odds ratios of 1.45 (95% CI 1.05–2.00) and 2.29 (95% CI 1.30–4.03), respectively. Active smoking and body mass index (BMI) had a synergistic effect on the risk of prevalent NAFLD; the combination of these risk factors was associated with the highest observed odds ratio for NAFLD: 8.58. In never-smoking women, passive smoking during both childhood and adulthood was associated with a 25% increase in the risk of prevalent NAFLD (OR = 1.25, 95% CI 1.05–1.50) as compared with no passive smoking. Conclusions: Passive smoking and heavy active smoking are associated with prevalent NAFLD in middle-aged and elderly Chinese. Active smoking and BMI have a synergistic effect on prevalent NAFLD.
Background: Controversial results have been reported on the relationship between alcohol intake and metabolic syndrome (MetS). We examined the association of average volume of alcohol consumed and drinking patterns with MetS and its components. Methods: This study was conducted as a baseline survey for the Dong-gu Study of adults aged 50 years or older. Drinking patterns were assessed using a structured interview, and average volume of alcohol consumed was calculated. MetS was defined according to the updated version of the National Cholesterol Education Program. Results: Compared with individuals who never drank, the adjusted odds ratio (OR) for the prevalence of MetS was significantly higher in men who consumed 2.1 to 4.0 drinks/day (OR, 1.53; 95% CI, 1.17–2.00) and greater than 4.0 drinks/day (OR, 1.63; 95% CI, 1.23–2.14), whereas no significant association was observed in women. Significant dose-response relationships between average volume of alcohol consumed and all metabolic components were observed in men. A usual quantity of 5 to 6 drinks/drinking day (OR, 1.57; 95% CI, 1.19–2.09), 7 or more drinks/drinking day (OR, 1.88; 95% CI, 1.45–2.44), and binge drinking on at least 1 occasion/week (OR, 1.33; 95% CI, 1.01–1.76) were associated with a significantly higher OR for prevalence of MetS in men; however, none of these drinking patterns were associated with MetS in women. Conclusions: Unhealthy drinking patterns such as high usual quantity and binge drinking were significantly associated with MetS, suggesting that the effect of alcohol consumption on MetS should be considered in the context of drinking pattern, particularly in men.
Background: Diet is a modifiable factor that may affect sleep, but the associations of macronutrient intakes with insomnia are inconsistent. We investigated the associations of protein, fat, and carbohydrate intakes with insomnia symptoms. Methods: In this cross-sectional analysis of 4435 non-shift workers, macronutrient intakes were assessed by the brief-type self-administered diet history questionnaire, which requires the recall of usual intakes of 58 foods during the preceding month. Presence of insomnia symptoms, including difficulty initiating sleep (DIS), difficulty maintaining sleep (DMS), and poor quality of sleep (PQS) were self-reported. Logistic regression analysis was used to estimate odds ratios (ORs) and 95% CIs adjusted for demographic, psychological, and behavioral factors, as well as medical histories. Results: Low protein intake (<16% vs ≥16% of total energy) was associated with DIS (OR 1.24, 95% CI 0.99–1.56) and PQS (OR 1.24, 95% CI 1.04–1.48), while high protein intake (≥19% vs <19% of total energy) was associated with DMS (OR 1.40, 95% CI 1.12–1.76). Low carbohydrate intake (<50% vs ≥50% of total energy) was associated with DMS (OR 1.19, 95% CI 0.97–1.45). Conclusions: Protein and carbohydrate intakes in the daily diet were associated with insomnia symptoms. The causality of these associations remains to be explained.
Background: We analyzed data from the Japan Collaborative Cohort Study (36 164 women aged 40–79 years at baseline in 1988–1990 with no previous diagnosis of breast cancer and available information on weight and height) to examine the association between baseline body mass index (BMI)/weight gain from age 20 years and breast cancer risk in a non-Western population. Methods: The participants were followed prospectively from enrollment until 1999–2003 (median follow-up: 12.3 years). During follow-up, breast cancer incidence was mainly confirmed through record linkage to population-based cancer registries. A Cox proportional hazards model was used to calculate hazard ratios (HRs) and 95% CIs for the association between breast cancer risk and body size. Results: In 397 644.1 person-years of follow-up, we identified 234 breast cancer cases. Among postmenopausal women, the adjusted HR increased with BMI, with a significant linear trend (P < 0.0001). Risk was significantly increased among women with a BMI of 24 or higher (HR: 1.50, 95% CI: 1.09–2.08 for BMI of 24–28.9, and 2.13, 1.09–4.16 for BMI ≥ 29) as compared with women with a BMI of 20 to 23.9. Weight gain after age 20 years and consequent overweight/obesity were combined risk factors for postmenopausal breast cancer risk. This combined effect was stronger among women aged 60 years or older. However, the HRs were not significant in premenopausal women. Conclusions: Our findings support the hypothesis that weight gain and consequent overweight/obesity are combined risk factors for breast cancer among postmenopausal women, particularly those aged 60 years or older.
Background: Mercury is a neurotoxic environmental pollutant. However, the literature on the neurodevelopmental effect of low-level prenatal mercury exposure from maternal fish intake is inconsistent. We assessed the association between prenatal mercury exposure and infant neurodevelopment in coastal areas of 4 Mediterranean countries. Methods: This was a prospective cohort study that planned to enroll approximately 1700 mother–infant pairs. Pregnant women and their newborn children were recruited in selected hospitals of the study areas. Biological samples, including maternal hair and cord blood, were collected from mothers and children, and the concentrations of mercury and other elements were measured. Exposures to lifestyle, environmental, and social factors were assessed through questionnaires. The main outcome was child neurodevelopment at 18 months, as measured by the Bayley Scales of Infant and Toddler Development, Third Edition. Conclusions: This cohort has a number of strengths. First, mercury concentration was measured in several biological samples, which allows for a better understanding of mercury kinetics and is useful for sensitivity analyses. Therefore, we expect to be able to adjust for the potential confounding effects of lifestyle and social factors and for the effects of other elements that were measured in the biological samples. Finally, this is a multinational study and thus permits assessment of the relation between mercury and child neurodevelopment in different populations.