OBJECTIVE: To explore the genetic etiology of a fetus with autosomal recessive polycystic kidney disease (ARPKD). METHODS: Prenatal ultrasonography has revealed oligohydramnios and abnormal structure of fetal kidneys. After careful counseling, the couple opted induced abortion. With informed consent, genomic DNA was extracted from the muscle sample of the abortus and peripheral blood samples of the couple. High throughput whole exome sequencing was carried out to detect potential variants in relation with the disease. Suspected variants were verified by Sanger sequencing. RESULTS: Prenatal ultrasound revealed increased size of fetal kidneys, with multiple hyperechos from the right kidney, and multiple hyperechos with anechoic masses within the left kidney. DNA sequencing revealed that the fetus has carried heterozygous variants of the PKHD1 gene, including c.7994T>C inherited from its father, and two heterozygous variants of the PKHD1 gene c.5681G>A from its mother. CONCLUSION The compound heterozygous c.7994T>C and c.5681G>A variants of the PKHD1 gene probably underlay the pathogenesis of ARPKD in this fetus. Above results can provide guidance for subsequent pregnancies of the couple.
Female ; Fetus ; Genetic Testing ; Humans ; Mutation ; Polycystic Kidney, Autosomal Recessive/genetics* ; Pregnancy ; Receptors, Cell Surface/genetics*

OBJECTIVE: To explore the genetic basis for a child affected with cerebral creatine deficiency syndrome 1 (CCDS1). METHODS: High-throughput sequencing was carried out to screen pathogenic variant associated with the clinical phenotype of the proband. The candidate variant was verified by Sanger sequencing. RESULTS: High-throughput sequencing revealed that the proband has carried heterozygous c.327delG variant of the SLC6A8 gene, which was verified by Sanger sequencing.Neither parent was found to carry the same variant. CONCLUSION The de novo heterozygous c.327delG variant of the SLC6A8 gene probably underlay the CCDS1 in this child.
Brain Diseases, Metabolic, Inborn/genetics* ; Creatine ; Genetic Testing ; Heterozygote ; Humans ; Mental Retardation, X-Linked ; Mutation

Objective To investigate the epidemic features and pathogen spectrum distribution of diarrhea cases in Minhang District of Shanghai City so as to provide scientific evidence for developing prevention and control measures. Methods Surveillance on diarrhea was conducted in sentinel hospitals in Minghang District from 2018 to 2020. According to the quantity of outpatients in the monitoring hospital, the stool samples were collected by systematic sampling method according to the fixed interval proportion in the case queue which met the requirements of the monitored cases, and the pathogenic composition and epidemiological characteristics were analyzed. Results Among the 721 samples detected , 307(42.58%) were pathogen positive, The main positive bacteria was Vibrio parahaemolyticus, which accounted for 36.11%(39/108) among all positive bacteria.The main positive virus was norovirus GII, which accounted for 24.43%(75/307) among all positive virus. Positive cases were detected among all age groups. 81 positive cases (26.38%) were detected among 31-40 years old, with the highest detection rate. There was no difference in the positive detection rate between genders(χ²= 1.95, P = 0.16). The positive cases showed two peaks during the season of winter and spring. The positive rate of bacteria was highest in the third quarter and positive rate of viruses was highest in the first quarter. The mixed infection rate of bacteria and viruses was highest in the second quarter. Conclusions Diarrhea cases in Minhang District of Shanghai from 2018 to 2020 is caused by a variety of pathogens and related seasonality is obvious in Minghang District, Shanghai City in 2018-2020. It is necessary to take specific prevention based on various pathogens to reduce the incidence of diarrhea.

Objective To study the seasonal distribution characteristics of polycyclic aromatic hydrocarbons (PAHs) in PM_2.5 in Lianyungang City, and analyze the sources of PAHs pollution, and to evaluate the health risks of PAHs in different seasons. Methods PM2.5 samples were collected regularly from January 2019 to December 2023, and 16 types of PAHs were determined by HPLC. Kruskal-Wallis H test was used to compare the concentrations of PM2.5 and PAHs in different years and seasons. The source of PAHs was analyzed by characteristic ratio and principal component analysis (PCA). Health risks were assessed using the BaP equivalent method and the incremental lifetime cancer risk (ILCR) model. Results The annual exceedance rates of PM_2.5 and BaP in Lianyungang showed a decreasing trend from 2019 to 2023. PM_2.5, total PAHs and PAHs monomers (except Ace, Flu and Acy) all showed significant seasonal differences, with the highest concentration in winter (P<0.001). The average proportion of 4-ring PAHs was the highest and the average proportion of 2-ring PAHs was the lowest. The proportion of 5-6 ring PAHs was relatively high in winter and spring. PM2.5and PAHs were negatively correlated with temperature, relative humidity and precipitation, and were positively correlated with atmospheric pressure. PM_2.5 was negatively correlated with wind speed, while some PAHs monomers were positively correlated with wind speed. The characteristic ratio and PCA results showed that the main sources of PAHs in Lianyungang City were mixed sources of road dust and vehicle emissions, oil pollution sources and biomass combustion sources. The results of ILCR showed that the highest risk was found in adults, with males slightly higher than females. In Lianyungang, the maximum value of ILCR in winter was more than 10-6 in people over 9 years old. Conclusion The main sources of PAHs in PM_2.5 in Lianyungang City are mixed sources of road dust and vehicle emissions, oil pollution sources, and biomass combustion sources. Under the current exposure level of PAHs in PM_2.5, residents have a certain potential carcinogenic risk.

Objective To evaluate the quality of infectious disease surveillance data and provide scientific basis for improving data quality and health decision-making. Methods The comprehensive index of infectious disease monitoring system evaluation and the integrity, accuracy and reliability of infectious disease report data were used to evaluate the quality of infectious disease monitoring data in multiple dimensions. Results In 2021, The comprehensive evaluation index of infectious disease surveillance system was 98.40%. In terms of data integrity, 1 105 data were missing, and the incomplete rate was 1.46%; In terms of data accuracy, 1978 cases were not accurately, rate of accuracy was 26.72%; In terms of data reliability, the card reporting rate of tertiary medical institutions accounted for 67.05%, the diagnosis rate of confirmed cases was 27.74%, and the correction rate of report card was 28.48%. Conclusion The accuracy and reliability of infectious disease data are insufficient, and new methods for infectious disease monitoring data quality are expanded to make up for the lack of data quality evaluation of the current national epidemic system.

Objective To understand the death status, mortality trend, cause of death and life loss of injury and poisoning among residents in Qidong City, Jiangsu Province from 1990 to 2019, and to provide a reference for formulating public health policies. Methods Data on injury and poisoning death of residents in Qidong City from 1990 to 2019 were collected through the death cause registration and monitoring system of Qidong City, Jiangsu Province. Indicators such as crude death rate (CR) and standardized death rate (CASR), average years of lost life (AYLL), and potential years of life lost rate (PYLLR) were calculated. Annual percentage change (APC) was used to analyze the trend of death from injury and poisoning. Results From 1990 to 2019, 18 163 residents in Qidong City, Jiangsu Province died of injuries and poisoning. The CR was 53.12/100 000 (APC=0.74%), and the CASR was 39.43/100 000 (APC=-1.86%). The male CR was 66.90 100 000 (APC=0.75%), and the male CASR was 52.42/100 000 (APC=-1.75%), while the female CR was 39.69/100 000 (APC=0.73%), and the female CASR was 26.63/100 000 (APC=-2.14%). Analysis of the standardized mortality rate showed a downward trend year by year (P<0.001). PYLL caused by injury and poisoning was 318 502.50 person-years (APC=-4.00%), AYLL was 26.02 years/person (APC=-3.26%) and the PYLLR was 10.39‰ (APC=-3.54%). The top five death causes of injury and poisoning are motor vehicle accidents, suicide, drowning, accidental falls and accidental poisoning, accounting for 87.17% of the total deaths from injuries and poisoning. Drowning was the leading cause of death for children aged from 0 to 14. Motor vehicle accidents were the leading cause of death for residents aged from 15 to 64, and accidental falls were the leading cause of death for residents over 65. Conclusion Injury and poisoning are one of the main causes of death among residents in Qidong City, Jiangsu Province. The distribution characteristics of injurie and poisoning deaths of different genders and ages are different. According to their distribution characteristics, targeted and specific measures should be taken to reduce mortality.

Objective To investigate the accuracy of body mass index (BMI) as the evaluation standard for obesity in Miao adults in Guangxi, to find out the BMI cutoff value suitable for the evaluation standard of adult obesity, and to provide an accurate and reliable reference value for the prevention and treatment of obesity in Miao nationality adults. Methods Using a cross-sectional design, residents aged 18 years or older in the Miao villages in Rongshui Miao Autonomous County, Guangxi, were selected as the research subjects, and their body composition was measured. The percent body fat (PBF) standard was used as the ^“gold standard^” for obesity, and the BMI standard for obesity in Chinese adults was used as the positive screening standard. The accuracy of the BMI standard was evaluated, and the ROC curve analysis was used to determine the optimal BMI cutoff value for obesity in Miao adults. Results The detection rate of obesity of Miao adults in Guangxi by BMI method was lower than that by PBF method (10.3% vs 19.0%, χ²=426.62, P<0.001). The results of reliability evaluation showed that BMI was in good agreement with PBF in judging obesity (Kappa=0.59, P<0.001). BMI as a screening criterion for obesity in Miao adults showed high specificity and low sensitivity, low Yordon index, high positive predictive value and high positive likelihood ratio, and low negative predictive value and high negative likelihood ratio. When the PBF was used as the ^“gold standard^”, BMI had a good diagnostic performance for obesity in Miao adults (AUC=0.959, P<0.001). The optimal BMI cutoff points for obesity in adults of Miao nationality in Guangxi were 25.85 kg/m² and 25.55 kg/m² for men and women, respectively. Conclusion BMI is of great value for the diagnosis of obesity in Miao adults, but it should not be used as an exclusion criterion for obesity. Especially in the case of a small sample size, the risk of misclassification bias is relatively high.

Objective To analyze the trend of heart disease death and the life expectancy without cause of death in Qidong City, Jiangsu Province from 1990 to 2019, and to provide reference for the prevention and control of heart disease. Methods Data on heart disease deaths among residents in Qidong City from 1990 to 2019 were collected through the Qidong City Death Registration and Monitoring System. The crude mortality rate (CR) and Chinese age-standardized mortality rate (CASR), potential years of life loss (PYLL), average years of life loss (AYLL), potential life loss years rate (PYLLR), life expectancy, and life expectancy without cause of death were calculated, and the annual percentage change (APC) was used to analyze the trend of heart disease death. Using SAS9.2 software, the death trend prediction was conducted by the ARIMA model in time series analysis. Results From 1990 to 2019, 27,762 residents died of heart disease in Qidong City, with a CR of 81.20/100 000 and an APC of 3.734%. There were 12 358 deaths of heart disease in men, with a CR of 73.24/100 000 and an APC of 3.86%, while there were 15 404 deaths of heart disease in women, with a CR of 88.95/100 000 and an APC of 3.63%. CR showed an upward trend (all P < 0.001). The PYLL for heart disease was 66 192.00 person-years, the AYLL was 13.23 person-years, and the PYLLR was 2.16‰. The life expectancy loss from heart disease was gradually increasing: 0.89 years in 1990 to 1.85 years in 2019, with an APC of 0.405% (P<0.001, a statistically significant trend). The prediction results showed that in 2029, the life expectancy after heart disease would reach 88.17 years. Conclusion From 1990 to 2019, the crude mortality rate of heart disease in Qidong City has showed an increasing trend, leading to an increasing loss of life due to heart disease year by year. The mortality rate and life loss of heart disease in women are higher than those in men. Targeted intervention measures should be further adopted to reduce the mortality rate of heart disease among residents in Qidong.

Objective To explore the spatial epidemiological characteristics of mortality and probability of premature death caused by chronic obstructive pulmonary disease (COPD) among residents in Pudong New Area of Shanghai from 2010 to 2020, and to provide reference for the formulation of chronic obstructive pulmonary disease prevention and control strategies according to local conditions. Methods The death data of chronic obstructive pulmonary disease were obtained from the local death surveillance system of Pudong New Area. Crude mortality, age-standardized mortality, and probability of premature death caused by COPD in each subdistricts and towns of Pudong New Area were calculated. The geographical information system (GIS) was used to plot the spatial distribution maps of chronic obstructive pulmonary disease death. The trend surface analysis and the spatial autocorrelation analysis were performed to analyze the spatial distribution of chronic obstructive pulmonary disease death. Results The crude mortality, age-standardized mortality and probability of premature death caused by COPD among residents in Pudong New Area between 2010 and 2020 were 58.40/100,000, 22.35/100,000, and 0.26%, respectively. The results of trend surface analysis showed that the crude mortality, age-standardized mortality and probability of premature death caused by COPD gradually increased from north to south. In the east-west direction, the crude mortality, age-standardized mortality, and probability of premature death showed an upward trend from west to east. The global autocorrelation analysis suggested that there existed a positive spatial autocorrelation for the crude mortality, age-standardized mortality, and probability of premature death. The local spatial autocorrelation analysis showed that the high-high clustering areas of COPD crude mortality, standardized mortality and premature mortality were all located in the rural areas of the southeast of Pudong New Area. Conclusion There are urban and rural differences in the mortality of chronic obstructive pulmonary disease among residents in Pudong New Area from 2010 to 2020. The residents living in rural southeast coast of Pudong New Area are more seriously affected by chronic obstructive pulmonary disease and should be paid more attention.

Objective To analyze the situation and changing trend of free medication service in Beijing from 2013 to 2020, and to propose policies and service improvement measures. Methods A retrospective survey was conducted in Beijing to collect and analyze the service subjects, service process, drug catalog, fiscal investment and patient participation of free medication in each district in recent years. Results Among the 16 districts of Beijing, 81.25% of the districts included the patients listed in Item (2) of Paragraph 2 of Article 30 of the Mental Health Law into the scope of free medication, and 75% of the districts broke the restriction that the service targets were registered residents in Beijing. 56.25% of the districts provided a variety of free medication modes, and 81.25% of the districts provided a mode of nearby community service. The catalog of free medications in various areas was still based on the Beijing catalog, and only 18.75% of the districts supplemented the list. In 2020, the total investment of free medicines and subsidies was 88.3768 million RMB, and the per capita investment was 1 616.02 RMB. The total cost showed an increasing trend year by year. From 2013 to 2020, the difference of per capita annual financial investment in drugs and subsidies was statistically significant (F=9.248, P<0.001). The per capita cost basically showed an increasing trend year by year except for individual years. In 2020, 54,688 patients participated in the free medication service in Beijing, and the participation rate was 67.23%. From 2013 to 2020, the difference of annual participation rate of patients was statistically significant (χ²=37098.759, P<0.001), and the number and proportion of patients increased year by year. Conclusion The practice of the district level has proved feasible to expand the scope of free medication service and to optimize the service process, which should be paid more attention in the future. With the continuous advancement of policies and services, the level of patient participation in various areas will tend to be relatively balanced after rising year by year.