Objective:To explore the clinical characteristics of 1q21.1 microdeletion by using single nucleotide polymorphism microarrays (SNP array).Methods:Eighteen cases of 1q21.1 microdeletion syndrome diagnosed at the Longgang District Maternal and Child Health Care Hospital of Shenzhen City from June 2017 to December 2022 were selected as the study subjects. Clinical data of the patients were collected. Results of chromosomal karyotyping and SNP assay were retrospectively analyzed.Results:Among the 18 cases with 1q21.1 microdeletions, 13 had a deletion between BP3 and BP4, 4 had a deletion between BP1/BP2 and BP4, whilst 1 had a proximal 1q21.1 deletion (between BP2 and BP3) involving the Thrombocytopenia-absent radius (TAR) region. The deletions had spanned from 360 kb to 3.9 Mb, which encompassed the GJA5, GJA8, CHD1L, RBM8AB and other morbid genes. In three families, the proband child has inherited the same 1q21.1 microdeletion from their parents, whose clinical phenotype was normal or slightly abnormal. The clinical phenotypes of 1q21.1 microdeletion had included cognitive or behavioral deficits in 9 cases (9/18, 50.0%), growth retardation in 8 cases (8/18, 44.4%), craniofacial deformities in 7 cases (7/18, 38.8%), cardiovascular malformations in 5 cases (5/18, 27.8%), and microcephaly in 3 cases (3/18, 16.7%). Conclusion:1q21.1 microdeletion syndrome has incomplete penetrance and varied expression such as intellectual impairment, growth and development delay, and microcephaly, with a wide range of non-specific phenotypes.

Objective To investigate the incidence and related factors of contrast media extravasation during CT and MR enhanced examinations.Methods A retrospective collection of 234 728 consecutive patients who underwent CT and MR enhanced examina-tions.Firstly,the patients with contrast media extravasation were divided into female group and male group according to gender for comparison.Further,the two groups were subdivided into＜50 years old subgroup and≥50years old subgroup according to age for inter-subgroup comparison.Results Among 234 728 patients in this study,258(0.11％)developed contrast media extravasation.Among them,the female group accounted for 62.02％of contrast media extravasation,while the male group accounted for 37.98％.The incidence of contrast media extravasation in the female group(0.15％)was significantly higher than that in the male group(0.08％),and the difference was statistically significant(P＜0.001).Further inter-subgroup analysis revealed that the incidence of contrast media extravasation in the female patients age ≥50 years old subgroup(0.18％)was significantly higher than that in the female patients age＜50 years old subgroup(0.07％),with statistical significance(P＜0.001).The incidence of contrast media extravasation in the female patients age ≥50 years old subgroup(0.18％)was significantly higher than that in the male patients age ≥50 years old subgroup(0.07％),and the difference was statistically significant(P＜0.001).However,there was no statistically significant difference in the incidence of contrast media extravasation between the male＜50 years old and ≥50 years old subgroups(P=0.23).Conclusion The incidence of contrast media extravasation is higher in female patients age≥50 years old.

BACKGROUND: Non-transport unintentional injuries (NTUIs) are major public concerns, especially among children and adolescents in low- and middle-income countries. With environmental and cognitive changes, a recent systematic description of global trends and regional differences concerning NTUIs is urgently needed for the global agenda of relevant policy-making and intervention target findings. METHODS: We used mortality, population, and socio-demographic-index (SDI) data from Global Burden of Disease 2019 to analyze the trends of NTUIs mortality. We applied the slope index of inequality (SII) and relative index of inequality (RII) to measure the absolute and relative inequality between countries and territories. The concentration curve and concentration index (CI) were also used to measure the inequality. We conducted a sensitivity analysis to make our findings credible. RESULTS: In 2019, there were 205,000 deaths due to NTUIs among children and adolescents aged 5 to 24 years, which decreased from 375,000 in 1990. In 2019, the age-standardized mortality rate (ASMR) was 8.13 per 100,000, ranging from the lowest in the Netherlands (0.90 per 100,000) to the highest in the Solomon Islands (29.34 per 100,000). The low-middle SDI group had the highest ASMR of NTUIs, while the low SDI group had the slowest decrease. After excluding the death caused by "exposure to forces of nature" and "other unintentional injuries", drowning accounted for the most deaths in almost every SDI group, gender, and age group, but the major causes of death varied in different subgroups. For example, animal contact was a major cause in low and low-middle SDI groups but less in high SDI groups, while high and high-middle SDI groups had a higher proportion of deaths for foreign body and poisonings. The SII showed a declining trend, but the RII and CI did not, which might indicate that inequality was persistent. Similar results were found in the sensitivity analysis. CONCLUSIONS Despite the declining trend of the mortality rate and the narrowing gap between countries, there were still a large number of children and adolescents dying from NTUIs, and those experiencing social-economic disadvantages remained at high mortality. Embedding the prevention of NTUIs into sustainable development goals might contribute to the progress of reducing death and inequalities, which ensures that no one is left behind.
Global Burden of Disease

OBJECTIVE: To analyze the indication, karyotyping result, ultrasound finding, pregnancy decision and follow-up of fetuses with sex chromosome aneuploidies (SCA) detected by non-invasive prenatal testing (NIPT) during early and midterm pregnancies. METHODS: The results of 225 singleton pregnancies with fetal SCA detected by NIPT were reviewed and analyzed. RESULTS: The 225 cases included 45,X (n=37), 47,XXY (n=74), 47,XXX (n=50), 47,XYY (n=56) and mosaicisms (n=8), among which 121 (53.8%) have opted to terminate the pregnancy, including 45,X (n=31), 47,XXY (n=61), 47,XXX (n=14), 47,XYY (n=12) and 3 mosaicisms. The remainder 104 (46.2%) have elected to continue with the pregnancy, among which three have opted to terminate due to abnormalities detected by ultrasonography, and two had spontaneous abortions. CONCLUSION NIPT as a first-tier screening method can effectively detect fetal trisomies 21, 13 and 18 as well as SCA. The types of fetal SCA and presence of ultrasound abnormalities are critical factors for the termination of pregnancy.
Aneuploidy ; Down Syndrome ; Female ; Fetus ; Humans ; Pregnancy ; Prenatal Diagnosis ; Sex Chromosome Aberrations ; Trisomy

Objective: To construct core information about physical activities of Chinese students aged 7-18 years, so as to provide a reference for impoving the level of adolescents physical activities. Methods: Canadian 24 Hour Movement Guidelines for Children and Youth was used as a framework, the preliminary core recommendations on physical activity for Chinese students aged 7-18 years were developed based on qualitative research. Recommendations covered three scales, including physical activity, sedentary behaviour and sleep. Physical activity included four subscales of frequency, intensity, duration and type, while sedentary behaviour and sleep only included one subscale. Three rounds of consultation were conducted using Delphi method. In the second round of consultation, the results of 2014 Chinese National Surveys on Students Constitution and Health were presented to experts for reference. In the third round of consultation, experts need to rank the importance of seven items of physical fitness under the physical activity type subscale by age group through analytic hierarchy process. Results: Totally 25, 25, and 18 experts were consulted in three rounds respectively. The questionnaire response rates in 3 rounds were 100.0%, 100.0%, and 94.4%, respectively. The authority coefficients were 0.92, 0.93, and 0.91. The harmony coefficients were 0.63( χ 2=237.10, P <0.01), 0.63( χ 2= 242.60 , P <0.01), and 0.76( χ 2=97.05, P <0.01). It was recommended that students aged 7 to 18 years in China should do moderate to vigorous physical activity for a cumulative total of at least 60 minutes per day, and most of the 60 minutes or more per day should be either moderate or vigorous intensity aerobic physical activity. Of the daily physical activity, students should conduct vigorous intensity aerobic physical activity, muscle strengthening and bone strengthening physical activity on at least 3 days a week. At least 2 hours of daytime outdoor activity was recommended for primary school students and 1 hour for secondary school students. 7-12 year old students should do more physical activities that enhance flexibility, coordination and agility, while 13-18 year old students should do more physical activities that enhance strength, endurance and speed. Sedentary behaviour included one subscale, where students should reduce sedentary behaviour, break up long periods of sitting as often as possible, and limit recreational screen time and online study time. Sleep included one subscale of duration.Students should get sufficient and uninterrupted sleep per night. Conclusion The development of core recommendations on physical activity for Chinese students aged 7 to 18 might help improve physical activity levels and promote health of children and adolescents.

The National Standards for Students’ Physical Health (2014 revision)is a standard for providing primary guidance for the national school education work and applicable to the evaluation of the physical health of primary school, secondary school and university students in China. This standard sets indicators and assessment scores by gender and grade from three aspects, i.e. body shape, function and quality. Given the complexity of the application process and the large number of indicators, it could be inefficient and misused due to a large sample size. Therefore, this study aims to comprehensively introduce the application of the standard with examples, and compile the corresponding SPSS package for potential audience to quickly and accurately evaluate students' physical health.

Objective:Using the Chinese National Survey on Students′ Constitution and Health data from 1985 to 2014 to analyze the trend of excellent and good physical fitness and health status among Chinese Han students aged 13 to 18 years and the related influencing factors.Methods:738 523 students aged 13 to 18 years with completed data of gender, age, urban and rural, physical form, vital capacity and physical fitness were selected from the six Chinese National Surveys on Students′ Constitution and Health. According to National Standards for Students′ Physical Health (2014 revision), the comprehensive scores and the prevalence of excellent and good physical fitness and health status were calculated (90.0-120.0 was classified as excellent, and 80.0-89.9 was classified as good). The trend of prevalence of excellent and good physical fitness and health status in different years and the corresponding differences among students with different characteristics were analyzed and compared. The log-binomial regression model was used to analyze related factors of physical fitness and health status.Results:From 1985 to 2014, the overall prevalence of excellent and good physical fitness and health status increased from 27.6% in 1985 to 35.6% in 1995, and then declined to 13.9% in 2005. In the 2010 and 2014 cycles, the prevalence increased steadily, at 16.5% and 19.1% respectively. Except for 1995 and 2014, the prevalence of boys was higher than that of girls ( P<0.001). The prevalence of students aged 13 to 15 was higher than that of students aged 16 to 18 ( P<0.001). Log-binomial regression model analysis showed that girls ［ PR（95% CI）=1.03（1.00-1.05）, P=0.021］, rural area ［ PR（95% CI）=1.09（1.07-1.12）, P<0.001］, 13-15 years old［ PR（95% CI）=1.89（1.84-1.94）, P<0.001］, eastern region［ PR（95% CI）=1.94（1.88-2.00）, P<0.001］, middle region［ PR（95% CI）=1.15（1.11-1.20）, P<0.001］, Exercise time ≥1 h/d［ PR（95% CI）=1.41（1.37-1.45）, P<0.001］, parents support participation in sports activities after school［ PR（95% CI）=1.10（1.06-1.15）, P<0.001］, TV time ≤1 h/d［ PR（95% CI）=1.26（1.21-1.30）, P<0.001］, playing video games, watching videos or e-books ≤1 h/d［ PR（95% CI）=1.05（1.02-1.09）, P<0.001］ were all related to the high prevalence of excellent and good physical fitness and health status. Conclusion:The prevalence of excellent and good physical fitness and health status among students aged 13 to 18 was changing between 1985 and 2014. Gender, age, area, physical exercise time, screen time for non-learning purposes, and parents′ attitudes toward students′ participation in physical activities were all related to the excellent and good physical fitness and health status of students.

The National Standards for Students’ Physical Health (2014 revision)is a standard for providing primary guidance for the national school education work and applicable to the evaluation of the physical health of primary school, secondary school and university students in China. This standard sets indicators and assessment scores by gender and grade from three aspects, i.e. body shape, function and quality. Given the complexity of the application process and the large number of indicators, it could be inefficient and misused due to a large sample size. Therefore, this study aims to comprehensively introduce the application of the standard with examples, and compile the corresponding SPSS package for potential audience to quickly and accurately evaluate students' physical health.

Objective:Using the Chinese National Survey on Students′ Constitution and Health data from 1985 to 2014 to analyze the trend of excellent and good physical fitness and health status among Chinese Han students aged 13 to 18 years and the related influencing factors.Methods:738 523 students aged 13 to 18 years with completed data of gender, age, urban and rural, physical form, vital capacity and physical fitness were selected from the six Chinese National Surveys on Students′ Constitution and Health. According to National Standards for Students′ Physical Health (2014 revision), the comprehensive scores and the prevalence of excellent and good physical fitness and health status were calculated (90.0-120.0 was classified as excellent, and 80.0-89.9 was classified as good). The trend of prevalence of excellent and good physical fitness and health status in different years and the corresponding differences among students with different characteristics were analyzed and compared. The log-binomial regression model was used to analyze related factors of physical fitness and health status.Results:From 1985 to 2014, the overall prevalence of excellent and good physical fitness and health status increased from 27.6% in 1985 to 35.6% in 1995, and then declined to 13.9% in 2005. In the 2010 and 2014 cycles, the prevalence increased steadily, at 16.5% and 19.1% respectively. Except for 1995 and 2014, the prevalence of boys was higher than that of girls ( P<0.001). The prevalence of students aged 13 to 15 was higher than that of students aged 16 to 18 ( P<0.001). Log-binomial regression model analysis showed that girls ［ PR（95% CI）=1.03（1.00-1.05）, P=0.021］, rural area ［ PR（95% CI）=1.09（1.07-1.12）, P<0.001］, 13-15 years old［ PR（95% CI）=1.89（1.84-1.94）, P<0.001］, eastern region［ PR（95% CI）=1.94（1.88-2.00）, P<0.001］, middle region［ PR（95% CI）=1.15（1.11-1.20）, P<0.001］, Exercise time ≥1 h/d［ PR（95% CI）=1.41（1.37-1.45）, P<0.001］, parents support participation in sports activities after school［ PR（95% CI）=1.10（1.06-1.15）, P<0.001］, TV time ≤1 h/d［ PR（95% CI）=1.26（1.21-1.30）, P<0.001］, playing video games, watching videos or e-books ≤1 h/d［ PR（95% CI）=1.05（1.02-1.09）, P<0.001］ were all related to the high prevalence of excellent and good physical fitness and health status. Conclusion:The prevalence of excellent and good physical fitness and health status among students aged 13 to 18 was changing between 1985 and 2014. Gender, age, area, physical exercise time, screen time for non-learning purposes, and parents′ attitudes toward students′ participation in physical activities were all related to the excellent and good physical fitness and health status of students.

Objective To analyze the secular trends and geographic disparities of all-cause mortality among Chinese adolescents aged 10-24 years over the period of 1953-2010.Methods Data were extracted from the Chinese National Census in 1953-2010.We calculated the all-cause mortality and annualized rates of the changes.Using the provincial gross domestic product (GDP) per capita as an indicator of regional socio-economic development level,we calculated the Wagstaff normal concentration indices for adolescent mortality.Results Over the period of 1953-2010,the general patterns of Chinese adolescent mortality appeared higher in males than those in females,higher in the 20-24-year-old than those in the 15-19 year-old and in the 10-14 year-old groups,higher in adolescents from the western than those in the eastern regions.The mortality of adolescents decreased from 554.6/100 000 in 1953-1964 to 55.7/100 000 in 2010 in males and decreased from 488.4/100 000 to 26.7/100 000 in females,respectively.The percentage of decrease for females (94.5％) was higher than that for males (90.0％).In 1981-2010,the highest annualized rate of decline for males was seen in Beijing (4.4％),with the lowest seen in Qinghai (0.1％).For girls,Hubei showed the highest annualized rate of decline (6.4％) while Qinghai the lowest (0.8％).Provinces that with higher mortality tended to have lower annualized rate of decline.The concentration indices for boys were-0.07 (95％ CI:-0.11--0.03),-0.13 (95 ％ CI:-0.18--0.08),and-0.16 (95 ％ CI:-0.22--0.10) in 1990,2000,and 2010,respectively,and were-0.07 (95％CI:-0.13--0.02),-0.18 (95％CI:-0.24--0.12),and-0.18 (95％CI:-0.26--0.09) respectively in girls.The indices among 1990,2000,and 2010 did not show statistically significantly differences,both for boys and girls (P＞0.05).Conclusions Over the half century,the mortality of Chinese adolescents showed dramatic decreasing trend.However,in terms of death rates,gender and geographic disparities were consistently seen in the adolescents.