Objective: To explore the impact of household tobacco smoke exposure on adolescents attempted smoking behavior, so as to provide a reference for tobacco control policy formulation and evaluation. Methods: From September to November 2023, a stratified cluster random sampling method was employed to select 7 841 middle and high school students from 10 monitoring sites (districts/counties) in Beijing for a questionnaire survey. Rao-Scott Chi square test was used to assess differences in proportions across subgroups, and complex sampling design based multivariate Logistic regression analysis was conducted to explore the influence of parental smoking and secondhand smoke (SHS) exposure at home on adolescents attempted smoking behavior. Results: About 47.17% of adolescents reported to have at least one parent smoked, with 42.36% reported of having only the father smoked, 0.73% reported of having only the mother smoked, and 4.08% reported of having both parents smoked. About 34.66% of middle and high school students were reported SHS exposure at home in the past 7 days, with 10.98%, 4.79% and 18.89% reported SHS exposure for 1-2, 3-4 and 5-7 days. Compared to adolescents with non smoking parents, those with a smoking father or both smoking parents had higher rates of attempted smoking [ OR (95% CI )=1.45(1.06-1.98), 3.73(2.18-6.37), P < 0.05 ]. Compared to adolescents without SHS exposure at home in the past 7 days, those exposed for 3-4 or 5- 7 days had higher rates of attempted smoking [ OR (95% CI )=2.21(1.27- 3.84 ), 2.46(1.58-3.83), P <0.01]. Conclusions Household tobacco smoke exposure is associated with adolescent attempted smoking behavior. Parents should quit smoking and prohibit smoking at home to create a smoke free environment for adolescents.

Objective:We aimed to develop a novel visualized model based on nomogram to predict postoperative overall survival.Methods:This was a multicenter, retrospective, observational cohort study, including participants with histologically confirmed gastric and colorectal cancer who underwent radical surgery from 11 medical centers in China from August 1, 2015 to June 30, 2018. Baseline characteristics, histopathological data and nutritional status, as assessed using Nutrition Risk Screening 2002 (NRS 2002) score and the scored Patient-Generated Subjective Global Assessment, were collected. The least absolute shrinkage and selection operator regression and Cox regression were used to identify variables to be included in the predictive model. Internal and external validations were performed.Results:There were 681 and 127 patients in the training and validation cohorts, respectively. A total of 188 deaths were observed over a median follow-up period of 59 (range: 58 to 60) months. Two independent predictors of NRS 2002 and Tumor-Node-Metastasis (TNM) stage were identified and incorporated into the prediction nomogram model together with the factor of age. The model's concordance index for 1-, 3- and 5-year overall survival was 0.696, 0.724, and 0.738 in the training cohort and 0.801, 0.812, and 0.793 in the validation cohort, respectively.Conclusions:In this study, a new nomogram prediction model based on NRS 2002 score was developed and validated for predicting the overall postoperative survival of patients with gastric colorectal cancer. This model has good differentiation, calibration and clinical practicability in predicting the long-term survival rate of patients with gastrointestinal cancer after radical surgery.

OBJECTIVE: To explore the genetic etiology for a child featuring mental retardation, language delay and autism. METHODS: G-banding chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) were carried out for the child and her parents. RESULTS: The child was found to have a 46,XX,dup(8p?) karyotype, for which both of her parents were normal. SNP-array revealed that the child has harbored a 6.8 Mb deletion in 8p23.3p23.1 and a 21.8 Mb duplication in 8p23.1p12, both of which were verified as de novo pathogenic copy number variants. CONCLUSION The clinical features of the child may be attributed to the 8p deletion and duplication. SNP-array can facilitate genetic diagnosis for children featuring mental retardation in conjunct with other developmental anomalies.
Humans ; Child ; Pregnancy ; Female ; Intellectual Disability/genetics* ; Prenatal Diagnosis ; Karyotyping ; Chromosome Banding ; Chromosome Deletion

We reported a fetus with limb abnormalities and abnormal ultrasound soft markers diagnosed with nemaline myopathy. A pregnant woman (G1P0) underwent amniocentesis at 18 +2 gestational weeks due to thickened nuchal translucency suggested by ultrasound at 13 +5 gestational weeks. Karyotyping and single nucleotide polymorphism array of the amniotic fluid cells showed no fetal abnormalities. However, ultrasonographic reexaminations at 23, 28, and 28 +1 weeks indicated limb abnormalities and thickened nuchal fold, and the pregnant woman chose to terminate the pregnancy at 29 +2 gestational weeks. Whole exome sequencing showed compound heterozygous mutations of c.602G>A (p.W201*) and c.1516A>C (p.T506P) in the KLHL40 gene inherited from the mother and the father, respectively, resulting in nemaline myopathy type 8.

Objective: Congenital hypogonadotropic hypogonadism (CHH) is a rare congenital gonadal dysplasia caused by defects in the synthesis, secretion or signal transduction of hypothalamic gonadotropin releasing hormone. The main manifestations of CHH are delayed or lack puberty, low levels of sex hormones and gonadotropins, and may be accompanied with other clinical phenotypes. Some patients with CHH are also accompanied with anosmia or hyposmia, which is called Kalman syndrome (KS). ANOS1, located on X chromosome, is the first gene associated with CHH in an X-linked recessive manner. This study aims to provide a basis for the genetic diagnosis of CHH by analyzing the gene variant spectrum of ANOS1 in CHH and the relationship between clinical phenotype and genotype. Methods: In this study, whole exome sequencing (WES) was used to screen rare sequencing variants (RSVs) of ANOS1 in a Chinese cohort of 165 male CHH patients. Four commonly used in silico tools were used to predict the function of the identified RSVs in coding region, including Polyphen2, Mutation Taster, SIFT, and Combined Annotation Dependent Depletion (CADD). Splice Site Prediction by Neural Network (NNSPLICE) was employed to predict possibilities of intronic RSVs to disrupt splicing. American College of Medical Genetics and Genomics (ACMG) guidelines was used to assess the pathogenicity of the detected RSVs. The ANOS1 genetic variant spectrum of CHH patients in Chinese population was established. The relationship between clinical phenotype and genotype was analyzed by collecting detailed clinical data. Results:Through WES analysis for 165 CHH patients, ANOS1 RSVs were detected in 17 of them, with the frequency of 10.3％. A total of 13 RSVs were detected in the 17 probands, including 5 nonsense variants (p. T76X, p. R191X, p. W257X, p. R262X, and p. W589X), 2 splicing site variants (c. 318+3A>C, c. 1063-1G>C), and 6 missense variants (p. N402S, p. N155D, p. P504L, p. C157R, p. Q635P, and p. V560I). In these 17 CHH probands with ANOS1 RSVs, many were accompanied with other clinical phenotypes. The most common associated phenotype was cryptorchidism (10/17), followed by unilateral renal agenesis (3/17), dental agenesis (3/17), and synkinesia (3/17). Eight RSVs, including p. T76X, p. R191X, p. W257X, p. R262X, p. W589X, c. 318+3A>C, c. 1063-1G>C, and p. C157R, were predicted to be pathogenic or likely pathogenic ANOS1 RSVs by ACMG. Eight CHH patients with pathogenic or likely pathogenic ANOS1 variants had additional features. In contrast, only one out of nine CHH patients with non-pathogenic (likely benign or uncertain of significance) ANOS1 variants according to ACMG exhibited additional features. And function of the non-pathogenic ANOS1 variants accompanied with other CHH-associated RSVs. Conclusion: The ANOS1 genetic spectrum of CHH patients in Chinese population is established. Some of the correlations between clinical phenotype and genotype are also established. Our study indicates that CHH patients with pathogenic or likely pathogenic ANOS1 RSVs tend to exhibit additional phenotypes. Although non-pathogenic ANOS1 variants only may not be sufficient to cause CHH, they may function together with other CHH-associated RSVs to cause the disease.

Objective:To describe the current situation on quit intention and quit attempts among current smokers aged 15 years and above in China and explore the main factors affecting their smoking cessation behaviors.Methods:The subjects were people aged 15 years and above in China. A stratified multi-phased randomized cluster sampling method was used. The survey covered 200 districts/counties in 31 provinces (autonomous regions and municipalities directly under the central government), including 19 376 people under investigation. The data were weighted with SAS 9.4 for complex sampling analysis, and the frequency and weighted component ratio were used for description. The influencing factors were studied using the Rao Scott χ2 test and unconditional multivariate logistic regression. Results:Among current smokers, 6.63% reported that they planned to quit smoking in the next month, 5.44% for men and 8.49% for women. 17.96% of the current smokers made quit attempts in the past 12 months, with 17.80% men and 22.15% women. People who smoke occasionally ( OR=3.42, 95% CI: 2.09-5.59) made quit attempts in the past ( OR=4.91, 95% CI: 0.33-0.52) and knew that smoking would lead to three diseases ( OR=2.24, 95% CI: 1.48-3.40) had higher quit intention. People who occasionally smoke ( OR=1.68, 95% CI: 1.20-2.34) received smoking cessation suggestions from medical staff ( OR=1.96, 95% CI: 1.62-2.37), were a ware of that smoking causes three diseases ( OR=1.63, 95% CI: 1.32-2.02) and had smoking prohibition regulations in indoor areas of their homes, had a higher rate of quit attempts. Conclusion:Providing effective smoking cessation intervention services and creating a supportive tobacco control environment are significant in promoting smoking cessation behavior.

Objective:To investigate secondhand smoke (SHS) exposure among non-current smokers aged 15 and over and its influencing factors in China in 2010 and 2018.Methods:The 2010 and 2018 China Adult Tobacco Surveys used multistage stratified cluster random sampling methods to obtain national representative samples across 31 provinces (autonomous regions and municipalities) in China. This study selected non-current smokers aged 15 and over as the research subjects to describe the general demographic characteristics, perceptions of SHS hazards, attitudes towards smoking bans in indoor areas in public places, and SHS exposure and the smoking restriction regulations in different places. The Rao-Scott χ2 test was used to compare the rates, and the unconditional logistic regression was used to analyze the influencing factors of SHS exposure. All the subjects in the analysis were weighted based on a complex sampling design. Results:Among non-current smokers aged 15 and over, from 2010 to 2018, the percentage of indoor smokers had decreased from 84.7% to 71.9%. The rates of people who saw smoking in various places declined with a statistically significant difference ( P<0.001). The exposure to SHS for females, people aged 45-64, teachers, medical staff, workers in enterprises, businesses, waiters, and people who live in rural and central areas declined. The differences were statistically significant ( P<0.05). In 2018, the percentage of SHS exposure for those who reported a comprehensive smoking ban in households or allowed smoking in certain areas was lower than for those who reported allowed or without a smoking ban. Among those aged 25-44, SHS exposure for those who reported complete smoking prohibition in workplaces was lower than those who reported allowed or without smoking prohibition ( OR=0.65, 95% CI: 0.49-0.87). The proportion of SHS exposure for those who believe that smoking should not be allowed in indoor areas of 0-5 public places is higher than that smoking should not be allowed in the indoor spaces of 8 public places ( OR=2.13, 95% CI: 1.35-3.36). Among people aged 45-64, the proportions of SHS exposure for teachers ( OR=0.37, 95% CI: 0.17-0.78) and medical staff ( OR=0.35, 95% CI: 0.16-0.76) and staff working in agriculture, forestry, animal husbandry, fishery, and water conservancy were lower than governmental staff ( OR=0.49, 95% CI: 0.29-0.84). Conclusions:Data from the decreased exposure of Chinese non-current smokers aged 15 and over to SHS suggests the initial achievement through constructing a smoke-free environment, but continued efforts are needed. It is necessary to actively advocate for smoke-free families, strengthen publicity and education on the hazards of tobacco and SHS, and improve the skills of non-smokers in rejecting SHS exposure.

Objective:To investigate the exposure to tobacco advertisements and promotions among Chinese adults aged 15 and above, identify the publicity channels and forms of tobacco advertising and promotion in 2010 and 2018, and implicate further tobacco control measures in China.Methods:A multistage, stratified, randomized cluster sampling design was used in 2010 and 2018 China Adult Tobacco Survey, with national representativeness. 13 354 and 19 376 permanent residents were selected in the 2010 and 2018 surveys. SAS 9.4 software was applied for data analysis, and all the data were weighted based on a complex sampling design. Rao Scott χ2 test was used for group comparison of a single factor. Results:In 2010 and 2018, 19.61% and 18.14% of the survey respondents did see tobacco advertising and promotion. From 2010 to 2018, there was no significant change in the situation of tobacco advertisements and promotions. Among those who had gone to a cigarette shop, the proportion of seeing tobacco advertisements increased from 29.28% in 2010 to 43.28% in 2018. Among those who had seen tobacco advertisements on TV, the rate fell from 50.93% in 2010 to 28.58% in 2018. Among those who had gone to movie theaters, the proportion of seeing tobacco advertisements increased from 2.17% in 2010 to 9.89% in 2018. Among those who had used the Internet, the proportion of seeing tobacco advertisements online rose from 19.20% in 2010 to 42.30% in 2018. In terms of tobacco promotion, the percentages of people who had seen tobacco promotions, cigarette price discounts, cigarette discount coupons, gifts, and other preferential activities in various places in the past 30 days were 4.99% vs. 9.30%, 0.78% vs. 4.09%, 0.04% vs. 0.33% and 0.98% vs. 3.33% in 2010 and 2018, respectively ( P<0.001). Conclusions:Tobacco advertising and promotion are still prevalent in China, with no significant change in 2010 and 2018. Tobacco advertising and promotion have been with the constant changes and development of media platforms. It is necessary to improve the implementation of relevant policies, comprehensively ban tobacco advertisements and promotions, and strengthen the supervision of ads and promotions.

Objective:To investigate the current status and trend of disease burden of neoplasms in 1990 and 2016 for Beijing people.Methods:The incidence situation, deaths status and disease burden of neoplasms in Beijing were described by using the results of the global burden of diseases study 2016 (GBD 2016). The measurement index included incidence, death, years of life lost due to premature mortality (YLL), years lived with disability (YLD), and disability-adjusted years (DALY). Using the average world population from 2000 to 2025 as standard population to calculate the age-standardized incidence rate, mortality rate, DALY rate, YLL rate and YLD rate.Results:The age-standardized incidence rate of neoplasms in 2016 was 250.68 per 100 000, which increased by 30.03% than in 1990. The age-standardized mortality rate was 115.83 per 100 000, which decreased by 26.71% than in 1990. The DALY, YLL and YLD of neoplasms in 2016 were 671.2, 651.1 and 20.1 thousand person-years, respectively, which increased by 85.83%, 82.79% and 302.00% than those in 1990. The age-standardized DALY rate and YLL rate were 2 549.00 and 2 469.84 per 100 000, which decreased by 33.22% and 34.30% than those in 1990. The age-standardized YLD rate was 79.16 per 100 000, which increased by 37.17% than that in 1990. The male DALY, YLL and YLD in 2016 were 428.8, 417.8 and 11.0 thousand person-years, and female were 242.4, 233.3 and 9.1 thousand person-years, respectively.Among different neoplasms, the top three neoplasms of DALY and YLL were lung cancer, liver cancer, colon and rectum cancer, the top three of YLD were lung cancer, colon and rectum cancer, breast cancer. The topped group of disease burden of neoplasms was aged from 50 to 69 years old, the DALY of which was 323.6 thousand person-years, accounted for 48.21% of all DALY, and increased by 87.70% than that in 1990.Conclusions:The disease burden of neoplasms in Beijing is dominated by YLL, and the YLD increases rapidly. The burden is severe in the group of aged from 50 to 69 years old, and the male is severer than female. Lung cancer ranks the first of the disease burden of neoplasms. The DALY of colorectal cancer has increased. Comprehensive strategies should be promoted, including cultivating a good lifestyle and implementing prevention and control of neoplasm risk factors as early as teenage group, early screening of high-risk population, and enhancing the instruction of patients′ treatment and rehabilitation.

Objective:To investigate the current status and trend of disease burden of neoplasms in 1990 and 2016 for Beijing people.Methods:The incidence situation, deaths status and disease burden of neoplasms in Beijing were described by using the results of the global burden of diseases study 2016 (GBD 2016). The measurement index included incidence, death, years of life lost due to premature mortality (YLL), years lived with disability (YLD), and disability-adjusted years (DALY). Using the average world population from 2000 to 2025 as standard population to calculate the age-standardized incidence rate, mortality rate, DALY rate, YLL rate and YLD rate.Results:The age-standardized incidence rate of neoplasms in 2016 was 250.68 per 100 000, which increased by 30.03% than in 1990. The age-standardized mortality rate was 115.83 per 100 000, which decreased by 26.71% than in 1990. The DALY, YLL and YLD of neoplasms in 2016 were 671.2, 651.1 and 20.1 thousand person-years, respectively, which increased by 85.83%, 82.79% and 302.00% than those in 1990. The age-standardized DALY rate and YLL rate were 2 549.00 and 2 469.84 per 100 000, which decreased by 33.22% and 34.30% than those in 1990. The age-standardized YLD rate was 79.16 per 100 000, which increased by 37.17% than that in 1990. The male DALY, YLL and YLD in 2016 were 428.8, 417.8 and 11.0 thousand person-years, and female were 242.4, 233.3 and 9.1 thousand person-years, respectively.Among different neoplasms, the top three neoplasms of DALY and YLL were lung cancer, liver cancer, colon and rectum cancer, the top three of YLD were lung cancer, colon and rectum cancer, breast cancer. The topped group of disease burden of neoplasms was aged from 50 to 69 years old, the DALY of which was 323.6 thousand person-years, accounted for 48.21% of all DALY, and increased by 87.70% than that in 1990.Conclusions:The disease burden of neoplasms in Beijing is dominated by YLL, and the YLD increases rapidly. The burden is severe in the group of aged from 50 to 69 years old, and the male is severer than female. Lung cancer ranks the first of the disease burden of neoplasms. The DALY of colorectal cancer has increased. Comprehensive strategies should be promoted, including cultivating a good lifestyle and implementing prevention and control of neoplasm risk factors as early as teenage group, early screening of high-risk population, and enhancing the instruction of patients′ treatment and rehabilitation.