To investigate the expression and significance of cell surface receptor signaling lymphocyte activation molecule family member 7 (SLAMF7) in normal intestinal tissues and intestinal inflammatory tissues of mice.

Objective: To determine the current prevalence of health risk behaviors among college students in Henan Province, and to conduct an in depth analysis of the impact of cumulative ecological risks on health risk behaviors, so as to provide scientific basis for promoting healthy development of adolescents. Methods: Using a multi stage stratified cluster sampling method, 9 743 college students from six universities in Henan Province were included as the research subjects from April to June 2023. A questionnaire survey was conducted using the College Student Cumulative Ecological Risk Scale and the China Urban Adolescent Health Related Behavior Survey Questionnaire (University Version). Data were analyzed by descriptive statistical analysis, Chi square test and binary Logistic regression. Results: The reporting rates of unhealthy eating behavior, unhealthy weight loss behaviors, lack of physical activity, daily risk behaviors, negative emotions, current smoking behavior current drinking behaviors, Internet addiction emotions and dangerous sexual behaviors among college students in Henan Province were 40.2%, 39.5%, 76.0%, 13.7%, 28.1%, 11.3%, 12.7%, 5.9% and 2.2%, respectively. The reporting rates of negative emotions, current smoking behaviors, current drinking behaviors, dangerous sexual behaviors and daily risk behaviors of college students were higher in boys than in girls ( χ 2=44.00, 995.20, 902.49, 121.95, 103.09, P <0.05). In terms of reporting rates of unhealthy diet, unhealthy weight loss and lack of exercise behavior, girls were higher than boys ( χ 2=107.59, 13.01, 145.83, P <0.05). Cumulative ecological risk was positively correlated with overall health risk behaviors. For every unit increase in the cumulative ecological risk index, the risk of health risk behaviors among college students increased by 48%. Conclusions The prevalence of health risk behaviors among college students is relatively common. It should adrocate for a healthy lifestyle, reduce the cumulative ecological risk and the occurrence of health risk behaviors to promote the healthy development of adolescents.

Dystrophinopathies, including Duchenne muscular dystrophy, Becker muscular dystrophy and dilated cardiomyopathy, are X-linked recessive genetic disorders due to variants of the dystrophin gene, which can seriously affect quality of life and health. Genetic diagnosis plays a crucial role in their diagnosis, treatment, and prevention. How to rationally select and standardize the use of various genetic techniques is a skill that clinicians must acquire. By compiling expertise of experts from the relevant areas and guidelines published home and abroad, this consensus has provided a guidance from the perspective of genetic diagnosis for the selection of genetic techniques, testing strategies, and detection process for dystrophinopathies.
Humans ; Quality of Life ; Consensus ; Dystrophin/genetics* ; Muscular Dystrophy, Duchenne/therapy* ; Cardiomyopathy, Dilated/genetics* ; Electrocardiography

OBJECTIVE: To investigate the clinical phenotype and genetic characteristics of a Chinese pedigree affected with Cohen syndrome. METHODS: A proband who was admitted to Zhengzhou People's Hospital on June 2, 2021 due to intellectual disability and developmental delay, in addition with her younger sister and other family members, were selected as the study subjects. Clinical data of the proband and her younger sister were collected. Genomic DNA was extracted from peripheral venous blood and chorionic villi samples. Chromosomal abnormalities were detected with chromosomal microarray analysis (CMA). Whole exome sequencing (WES) and Sanger sequencing were carried out to detect candidate variants in the proband. With RNA extracted from the peripheral blood samples, VPS13B gene transcripts and expression were analyzed by PCR and real-time quantitative PCR. Prenatal diagnosis was carried out at 12 weeks' gestation. RESULTS: The proband was a 10-year-old female with clinical manifestations including development delay, obesity, severe myopia and peculiar facial features. Her sister was 3 years old with a similar phenotype. CMA revealed no chromosomal abnormality in the proband, while WES results revealed that the proband and her sister had both harbored compound heterozygous variants of the VPS13B gene, namely c.10076_10077delCA (p.T3359fs*29) and c.6940+1G>T, which were respectively inherited from their mother and father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+PS4+PM4+PP1; PVS1+PM2_Supporting+PM3+PP1). In vivo splicing assay confirmed that the c.6940+1G>T variant has produced a frameshift transcript with skipping of exon 38. Compared with the control group, the expression of RNA in the peripheral blood of the proband's parents has decreased to 65% ~ 70% (P < 0.01), whilst that in the proband and her sister has decreased to 40% (P < 0.001). Prenatal diagnosis at 12 weeks of gestation has found that the fetus only harbored the heterozygous c.10076_ 10077delCA variant. CONCLUSION The c.10076_10077delCA (p.T3359fs*29) frameshift variant and c.6940+1G>T splicing variant probably underlay the Cohen syndrome in this pedigree. Genetic testing has facilitated the diagnosis of this disease.
Female ; Humans ; East Asian People ; Intellectual Disability/genetics* ; Mutation ; Myopia/genetics* ; Pedigree ; Vesicular Transport Proteins/genetics* ; Child, Preschool ; Child

Objective: To track and investigate the changes in visual acuity of primary and secondary school students in Henan Province during the COVID-19 pandemic home confinement, so as to provide theoretical basis for the prevention and control of myopia. Methods: A cohort study design was employed for this research. In September 2019, visual acuity tests were conducted among 2 222 primary and secondary school students by Multi stage random cluster sampling method from four cities in Henan Province, including Zhengzhou, Xinxiang, Zhoukou, and Pingdingshan. A follow up study was conducted in June 2020, with on site visual acuity tests and questionnaire surveys. Wilcoxon rank sum test, Kruskal Wallis rank sum test, Chi square test, one way analysis of variance, and multiple linear regression model were used to analyze the changes in visual acuity of primary and secondary school students and the influencing factors from 2019 to 2020. Results: Compared with 2019, the overall myopia rate of students increased in 2020, and the difference was statistically significant (55.7%, 64.9%, χ 2=1 035.91, P <0.01), and the difference between mild, moderate and severe myopia rates occurred at 2 years (2019:32.4%, 18.8%, 4.4%, 2020:36.7%, 22.5%, 5.7%, χ 2= 8.43, 9.23, 3.94, P <0.05). The myopia incidence rate of primary and secondary school students in 2020 was 28.3%. As presented in multiple linear regression analysis, middle school, grade 4th-6th and grade 1st-3rd of primary school, low economic level, using television for online classes, the study desk being not bright on sunny days, without looking far away during breaks, the brightness of the study desk and desktop which was average on sunny days, and using roof lamp only when studying at night were associated with myopia progression among students ( B=-0.16, -0.18, -0.20, -0.06, -0.21, -0.13, -0.11, -0.40, P <0.05). Conclusions During 2019-2020, primary and secondary school students in Henan Province experience a progression towards myopia, which is comprehensively influenced by education stage, economic level, the habit of using eyes, and visual environment. Myopia prevention and control should be actively intervened and strengthened to improve the eye environment for primary and secondary school students, in order to slow down the development of myopia.

Objective: To analyze the present situation and associated factors of physical fitness and overweight and obesity among primary and middle school students in Henan Province, and so as to explore the related factors and to provide reference for improving students physical fitness. Methods: The data of students physical health survey in Henan Province in 2019 were used to analyze the PFI and BMI of students aged 7-18. The Chi square test was used to compare difference in overweight and obesity prevalence by gender and residence. Analysis of variance was used to compare PFI differences among students of different age groups. Multi variable Logistic regression analysis was conducted to analyze the influencing factors of physical fitness. Results: A large proportion of students PFI was between -5 and 5. 0-<5 group(46.8%), followed by -5-<0 group(44.0%), and ≥5 group. The detection rates of overweight and obesity were higher in boys (16.8%, 12.3%) than in girls (12.8%, 7.6%), and in cities (16.1%, 11.8%) than in rural areas (13.3%, 7.9%)( χ 2=124.78, 245.43; 62.52, 166.23, P <0.01). PFI was negatively correlated with BMI( r= -0.23 , P <0.01). Age ( OR =1.01), urban and rural (rural s OR =1.21), gender (female s OR =1.11), over weight ( OR =1.94), obesity ( OR =4.85) were the influencing factors of physical fitness( P <0.05). Conclusion Age, residence, gender, overweight and obesity are the related factors of physical fitness. Controlling overweight and obesity can effectively improve students physical fitness.

Objective: To analyze current status of physical exercise of primary and middle school students in Henan province, and to explore its relationship with physical fitness. Methods: Data on physical exercise and related indicators among 9-18 years old students was retrieved from Henan Provincial Student Physical Fitness and Health Survey in 2019. Physical fitness index (PFI), body mass index (BMI) was calculated. ANOVA was used to compare differences of physical exercise between men and women, urban and rural areas. Correlations between physical exercise with PFI and BMI were evaluated. Results: The majority of students had two PE classes per week (41.9%), daily active recess (44.5%), one sports meeting in each school year (46.8%), and half to one hour of physical exercise per day (50.1%). Boys were more likely to exercise than girls, while rural students were more likely to excecise than urban students. The proportion of parents who support sports activities in their spare time was the highest (75.8%), and the proportion of parents who both like sports was the highest (47.3%). PFI was positively correlated with exercise scores and negatively correlated with non exercise scores. BMI was negatively correlated with exercise scores and positively correlated with non exercise scores ( r =0.12, -0.13, -0.20, 0.14, P ＜0.01). Conclusion Physical exercise of primary and middle school students in Henan is satisfactory.Exercise scores are positively correlated with physical fitness, but negatively correlated with BMI.

Objective: To analyze dental caries and associated factors among primary and middle school students in Henan Province, so as to provide reference for dental caries prevention and control. Methods: The data of physical health survey of students in Henan Province in 2019 was analyzed for caries and other related index of students aged 7, 9, 12, 14 years. Chi square test was used to compare detection rate of caries by sex and residence, analysis of variance was used to compare the height between with and without risk of caries, and Logistic regression analysis was conducted for the influencing factors of caries. Results: The caries rate was 56.6%. And the male students (53.4%) was lower than the female students (59.7%). The urban students (53.4%) was lower than the rural students (59.8%)( χ 2=52.31,54.00, P <0.01). The height of the caries free group was higher than that of the caries group, and the height difference was 0.5-1.6 cm; the prevalence of caries decreased with the increase of age( χ 2=992.01, P < 0.01 ). The detection rate of anemia in caries group (16.7%) was higher than that in caries free group (14.9%)( χ 2=7.98, P <0.01). Multivariate Logistic regression analysis showed that age ( OR =0.82) gender ( OR =1.27) urban area and rural ( OR =1.26) overweight ( OR =0.67) and obesity ( OR = 0.67 ) were all influencing factors of dental caries( P <0.01). Conclusion Dental caries is high among primary and middle school students in Henan Province, and dental caries affects their growth, development and nutritional status, and the prevention and control measures of dental caries among primary and middle school students should be strengthened.

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with dyschromatosis symmetrica hereditaria (DSH). METHODS: PCR and Sanger sequencing were carried out for the proband, and suspected variant was validated by Sanger sequencing in the pedigree. RESULTS: The proband was found to harbor a novel variant of c.1352delA (p.N451Mfs*13) of the ADAR (NM_001111) gene. The same variant was found in her affected mother and sister, but not in her unaffected father, uncle, and 100 healthy individual. CONCLUSION The novel variant of the ADAR gene probably underlay the pathogenesis of DSH in this pedigree.
Adenosine Deaminase/genetics* ; China ; Female ; Humans ; Mutation ; Pedigree ; Pigmentation Disorders/congenital* ; RNA-Binding Proteins/genetics*

OBJECTIVE: To analyze the clinical features and genetic variant in a patient with Usher syndrome. METHODS: Whole exome sequencing was carried out for the patient. Suspected variants were validated by Sanger sequencing of her parents and fetus. RESULTS: The proband was found to harbor compound heterozygous variants c.17_18insA (p.Tyr6Ter*) and c.4095_4096insA (p.Arg1366Lys fs*38) of the PCDH15 gene (NM_033056), which were respectively inherited from her father and mother. The same variants were not detected in 100 healthy controls. Based on the guidelines of the American Society of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PM2+PP4). By prenatal diagnosis, her fetus was found to carry the c.4095_4096insA variant. After birth, the child has passed neonatal hearing screening test, and no abnormal auditory and visual function was found after the first year. CONCLUSION The compound heterozygous variants c.17_18insA (p.Tyr6Ter*) and c.4095_4096insA (p.Arg1366Lys fs*38) of the PCDH15 gene probably underlay the Usher syndrome is this proband.
Cadherin Related Proteins ; Cadherins/genetics* ; Child ; China ; Female ; Genetic Testing ; Humans ; Infant, Newborn ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Usher Syndromes/genetics*