Objective:To explore the prenatal ultrasound phenotype and genetic basis of two fetuses with Wolf-Hirschhorn syndrome (WHS).Methods:A retrospective analysis was conducted on the ultrasound imaging data of two fetuses suspected for WHS at the Prenatal Diagnostic Center of Qingyuan People′s Hospital in July 2017 and August 2019, respectively. Amniotic fluid samples of the two fetuses were subjected to chromosomal karyotyping and chromosomal microarray analysis (CMA). This study was approved by Medical Ethics Committee of the Qingyuan People′s Hospital (Ethics No. IRB-2022-064).Results:Prenatal ultrasound examination of the two fetuses had consistently revealed WHS-associated traits including intrauterine growth restriction (IUGR), craniofacial abnormalities and cardiovascular anomalies. Karyotyping analysis suggested that both fetuses had harbored cryptic chromosomal translocations involving partial deletion of 4p. And parental verification revealed that it was de novo for fetus 1 and paternal for fetus 2. CMA has confirmed that fetus 1 had an approximately 8.7 Mb deletion at 4p16.3p16.1 and a 6.8 Mb duplication at 8p23.1p23.1, whilst fetus 2 had a 20.05 Mb deletion at 4p16.3p15.31 and a 7.66 Mb duplication at 9p24.3p24.1. The karyotype of fetus 1 was determined as 46, XN, der(4)t(4; 8)(p16.1; p23.1)dn.arr[hg19]4p16.3p16.1(68345_8721580)×1, 8p23.3p23.1(158048_6933745)×3, and that of fetus 2 was determined as 46, XN, der(4)t(4; 9)(p15.3; p24)dpat.arr[hg19]4p16.3p15.31(68345_20116061)×1, 9p24.3p24.1(208454_7868292)×3. Conclusion:The 4p deletion is probably the main cause for the WHS phenotype in both fetuses. WHS should be suspected when IUGR, renal anomalies, craniofacial and cardiovascular abnormalities are detected upon prenatal ultrasound screening.

BACKGROUND: Tissue engineering is increasingly viewed as a promising avenue for functional cartilage reconstruction.However, chondrocyte dedifferentiation during in vitro culture remains an obstacle for clinical translation of tissue engineered cartilage. Re-differentiated induction have been employed to induce dedifferentiated chondrocytes back to their original phenotype. Regrettably, these strategies have been proven to be only moderately effective. METHODS: To explore underlying mechanism, RNA transcriptome sequencing was conducted on primary chondrocytes (P0), dedifferentiated chondrocytes (P5), and redifferentiated chondrocytes (redifferentiation-induction of P5, P5.R). Based on multiple bioinformatics analysis, LGR5 was identified as a target gene. Subsequently, stable cell lines with LGR5 knocking-down and overexpression were established using P0 chondrocytes. The phenotypic changes in P1 and P5 chondrocytes with either LGR5 knockdown or overexpression were assessed to ascertain the potential influence of LGR5 dysregulation on chondrocyte phenotypes. Regulatory mechanism was then investigated using bioinformatic analysis, protein–protein docking, immunofluorescence co-localization and immunoprecipitation. RESULTS: The current study found that dysregulation of LGR5 can significantly impact the dedifferentiated phenotypes of chondrocytes (P5). Upregulation of LGR5 appears to activate the PI3K/AKT signal via increasing the phosphorylation levels of AKT (p-AKT1). Moreover, the increase of p-AKT1 may stabilize b-catenin and enhance the intensity of Wnt/b-catenin signal, and help to restore the dedifferentated phenotype of chondrocytes. CONCLUSION LGR5 can modulate the phenotypes of chondrocytes in P5 passage through PI3K/AKT signaling pathway.

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.

Objective:To investigate the prevalence of estimated glomerular filtration (eGFR) and risk factors among middle-aged and elderly residents in Beijing.Methods:In August-December of 2017, 6 549 residents aged 45-79 years old were randomly selected in the study by stratified multi-stage cluster sampling method. The investigation was performed by questionnaire, physical examination and laboratory tests. The contents of questionnaire included the demographic characteristic and prevalence of chronic disease. Blood pressure was tested. Fasting venous blood was collected to test the level of total cholesterol (TC), high density lipoprotein cholesterol (HLDL), low density lipoprotein cholesterol (LDL), triglyceride (TG), fasting blood-glucose (FBG), blood creatinine (Cr) and serum uric acid (UA). The Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equation was used to estimate GFR(eGFR). The decreased GFR was defined as eGFR less than 60 ml/min per 1.73 m 2. The statistical software SPSS 20.0 was used for analysis. The general linear model, test of independence of rows and columns, logistic regression for complex samples were generalized. The weighted mean and weighted rate were analyzed. Results:The average level of eGFR was (100.51±0.54) ml/min per 1.73 m 2. The rate of decreased GFR was 1.28%, and it showed a higher rate in subjects aged 70-79 years-old, living in urban area, with history of cardiovascular disease, hypertension, diabetes mellitus, hyperuricemia (4.53%, 1.57%, 2.90%, 2.27%, 2.12% and 4.62%; F=30.827, 10.588, 11.466, 34.693, 6.788,51.643, all P<0.05) . Logistic regression analysis of complex sampling showed that 70-79 years old ( OR=4.435, 95 %CI:2.402-8.191), living in urban area ( OR=3.145, 95 %CI: 1.540-6.420), hypertension ( OR=4.663, 95 %CI:2.177-9.988), hyperuricemia ( OR=6.751, 95 %CI:3.363-13.553) were associated with decreased GFR (all P<0.05). Conclusion:The prevalence of the decreased eGFR among middle-aged and elderly residents in Beijing is higher than the average level in the eastern part of China. Hypertension, hyperuricemia, the old age and living in urban are risk factors of decreased GFR.

Objective:To investigate the comprehensive control situation and related factors of diabetes mellitus.Methods:From August to December of 2017, 13 259 residents aged 18 to 79 years old were randomly selected as the subjects by stratified multi-stage cluster sampling method. Questionnaire, physical examination and laboratory tests were conducted. The effective sample size was 13 240. A total of 1 592 diabetes patients were found. In this study, 917 diabetes patients who had been diagnosed before the investigation were selected as subjects. The comprehensive control of diabetes patients was analyzed. The situation of diabetes patients with hypertension, dyslipidemia, overweight and obesity, coronary heart diseases was analyzed. Logistic regression analysis of complex sampling was used to analyze the related factors of diabetes comprehensive control.Results:The average age of 917 patients with diabetes was (58.5±0.7) years old. The proportion of people who participated in diabetes follow-up management was 29.0%. There were 89.5% diabetes patients with one or more chronic diseases. The comprehensive control rate of diabetes mellitus was 2.0%, men and women were 1.8% and 2.3%, respectively ( P>0.05). The rate of comprehensive control among those diabetes patients with chronic diseases was 0.4%, lower than that of those without chronic diseases (15.6%, P<0.05). The comprehensive control rate of people who participated in diabetes follow-up management was 1.4%. The control rate of blood glucose, blood pressure, blood lipid and weight of diabetes mellitus was 30.9%, 30.2%, 17.4% and 27.7%, respectively. Logistic regression analysis of complex sampling showed that excessive intake of red meat, with chronic diseases and qualified core knowledge were all related with comprehensive control of diabetes mellitus, OR value was 31.41, 39.98 and 0.29, P<0.05. Conclusion:The comprehensive control rate of diabetes mellitus was low. Excessive intake of red meat, with chronic diseases and qualified core knowledge were all related with comprehensive control of diabetes mellitus.

Objective:To understand the awareness of smoking hazards and intention of smoking concession in residents aged 18-65 years in Beijing, and provide scientific evidence for the development and improvement of tobacco control policies and measures.Methods:Data were collected from the 2017 Beijing Non-communicable and Chronic Disease surveillance. A multi-stage stratified cluster sampling method was used to take samples from 165 communities in 16 districts of Beijing. Logistic regression was used to analyze the influencing factors.Results:Among 11 594 participants, 49.93% had no intention of smoking concession. The percentage of refusing smoking concession was higher in men (50.39%) than in women (43.01%), the difference was significant ( χ2=14.211, P=0.002), and higher in suburban residents (56.78%) than in urban residents (45.30%), the difference was significant ( χ2=51.977, P<0.001). For the smoking cessation motivation, "illness" was the reason for more former smokers (29.88%) compared with current smokers (11.50%), the difference was significant ( χ2=85.865, P<0.001). The awareness rates of smoking hazards was higher in women (34.97%) than in men (32.63%), the difference was significant ( Z=5.612, P<0.001), higher in suburban residents (35.44%) than in urban residents (33.03%), the difference was significant ( Z=-3.734, P<0.001), and higher in never smokers (35.15%) than in smokers (30.06%), the difference was significant ( χ2=62.277, P=0.005). Multiple logistic regression analysis results showed people with general awareness ( OR=0.61, 95 %CI: 0.39-0.94) and poor awareness ( OR=0.67, 95 %CI: 0.50-0.90) of smoking hazards were less likely to quit smoking and people with general awareness ( OR=0.64, 95 %CI: 0.53-0.76) and poor awareness ( OR=0.87, 95 %CI: 0.78-0.98) of smoking hazards were more likely to smoke. Conclusions:Smokers aged 18-65 in Beijing had low willingness for smoking cessation. Health problem was main consideration for smoking cessation. Never-smokers had better awareness of smoking hazards than smokers, and the awareness of smoking hazards was an influencing factor of smoking status.

Objective:To investigate the status quo of sleelated problems and relationship with dyslipidemia among adults in Beijing.Methods:From August to December 2017, 13 188 residents aged 18-79 years old were randomly selected as the subjects of this study, by stratified multi-stage cluster sampling method. Questionnaire, physical examination and laboratory testing were used in this study. The questionnaire included demographic characteristics and status quo of sleep. Height and weight were measured, with fasting venous blood collected to test the levels of TC, HDL-C, LDL-C and TG.Results:In Beijing, 52.1% of the adults involved in this study were having sleep-related problems which appeared higher in patients with dyslipidemia (55.1%) than those without (50.7%). Rates of sleep-related problems as snoring, difficult to get into sleep, waking at night, waking early and taking sleeping pills were 30.1%, 18.8%, 24.6%, 20.1% and 3.0%, respectively. The prevalence rates of high TC, high TG and high LDL-C were 7.5%, 23.5% and 6.6%, respectively among subjects with snoring and as, 5.7%, 15.5% and 4.9%, respectively among those without. The average level of TC of people easy to wake at night was 4.74 mmol/L, higher than that of those without (4.66 mmol/L). The prevalence of high TC among those waking at night was 7.5%, higher than that of those without (5.8%). After controlling potential confounding factors as age, sex, smoking, overweight and obesity, snoring was significantly positively correlated to the levels of TC, TG and LDL-C ( P<0.05) and presenting as risk factor for dyslipidemia, with OR=1.248 ( P<0.05). Conclusion:Sleep-related problems appeared serious, with snoring and waking at night the main ones among adults in Beijing. Snoring was significantly positively correlated with the levels of TC, TG and LDL-C and served an independent risk factor for dyslipidemia.

Objective:To understand the status quo of sleep and its associations with serum hemoglobin A1c (HbA1c) among nondiabetic people of 18-79 years old in Beijing.Methods:Data was gathered from the 2017 Beijing Non-communicable and Chronic Disease Surveillance Program. Multiple classified clusters sampling method was used while the 18-79 years old were sampled from the 16 districts of Beijing. Questionnaires would include information on demographic characteristics, chronic diseases and related risk factors, sleep duration and related problems (snore/asphyxia, difficult to get to sleep, waking often during the night, waking up early or taking sleeping pills) within the last 30 days. Complex sampling logistic regression models were established to analyze the association between sleep-related problems and serum HbA1c.Results:A total of 11 608 non-diabetic participants were involved in this study, with average age, reported sleep duration and median of serum HbA1c level as (43.36±15.27) years old, (7.49±1.29) h/d and 5.30%, respectively. 47.38% of them reported having sleep problems within the last 30 days. With the increasing time of sleep, serum HbA1c level was fluctuating significantly ( F=413.06, P<0.01). Significant differences appeared in serum HbA1c levels among different age groups ( t=358.3, P<0.01). Among participants with several kinds of sleep problems, the serum HbA1c levels were significantly higher than those without, through the single factor analysis ( U=15.11, P<0.01). After adjusting for potential confounding factors, the combination of one sleep-related problem ( OR=1.21, 95% CI: 1.03-1.41) and snore/asphyxia were associated with higher serum HbA1c levels (HbA1c≥5.7%) ( OR=1.37, 95% CI: 1.16-1.61). People under 60 years of age were with higher risk of having higher serum HbA1c levels. Conclusion:Duration and sleep-related problems might affect the serum HbA1c levels, especially among those younger than 60 years of age.

Objective:To investigate the comprehensive control situation and related factors of diabetes mellitus.Methods:From August to December of 2017, 13 259 residents aged 18 to 79 years old were randomly selected as the subjects by stratified multi-stage cluster sampling method. Questionnaire, physical examination and laboratory tests were conducted. The effective sample size was 13 240. A total of 1 592 diabetes patients were found. In this study, 917 diabetes patients who had been diagnosed before the investigation were selected as subjects. The comprehensive control of diabetes patients was analyzed. The situation of diabetes patients with hypertension, dyslipidemia, overweight and obesity, coronary heart diseases was analyzed. Logistic regression analysis of complex sampling was used to analyze the related factors of diabetes comprehensive control.Results:The average age of 917 patients with diabetes was (58.5±0.7) years old. The proportion of people who participated in diabetes follow-up management was 29.0%. There were 89.5% diabetes patients with one or more chronic diseases. The comprehensive control rate of diabetes mellitus was 2.0%, men and women were 1.8% and 2.3%, respectively ( P>0.05). The rate of comprehensive control among those diabetes patients with chronic diseases was 0.4%, lower than that of those without chronic diseases (15.6%, P<0.05). The comprehensive control rate of people who participated in diabetes follow-up management was 1.4%. The control rate of blood glucose, blood pressure, blood lipid and weight of diabetes mellitus was 30.9%, 30.2%, 17.4% and 27.7%, respectively. Logistic regression analysis of complex sampling showed that excessive intake of red meat, with chronic diseases and qualified core knowledge were all related with comprehensive control of diabetes mellitus, OR value was 31.41, 39.98 and 0.29, P<0.05. Conclusion:The comprehensive control rate of diabetes mellitus was low. Excessive intake of red meat, with chronic diseases and qualified core knowledge were all related with comprehensive control of diabetes mellitus.