OBJECTIVETo detect mutation of GPR143 gene in a Chinese patient affected with ocular albinism.

METHODSPeripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing.

RESULTSA previously unreported mutation (c.758T>A) was found in exon 6 of the GPR143 gene in the proband and his mother. The same mutation was not found in his father. As predicted, the mutation has resulted in a stop codon, causing premature termination of protein translation.

CONCLUSIONA novel mutation of the GPR143 gene related to X-linked ocular albinism has been identified.

Adult ; Albinism, Ocular ; genetics ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Eye Proteins ; genetics ; Female ; Genetic Diseases, X-Linked ; genetics ; Humans ; Infant ; Male ; Membrane Glycoproteins ; genetics ; Molecular Sequence Data ; Mutation

Objective: This study aims to investigate the willingness and influencing factors of COVID-19 vaccination among Chinese middle school students, and to provide a reference for promoting the implementation of COVID-19 vaccination among middle school students. Methods: An online survey was conducted among middle school students in Beijing, Anqing of Anhui Province, Xi an of Shaanxi Province and Shenzhen of Guangdong Province, and 9 153 participants were enrolled in the present study. Single factor analysis and multinomial Logistic regression was used to determine the related factors of COVID-19 vaccination willingness. Results: The prevalence of vaccine acceptance, vaccine hesitancy and vaccine refusal among middle school students were 60.05%, 31.59% and 8.36%, respectively. The results of Chi square analysis showed there were significant difference of COVID-19 vaccination willingness among sex, school residence, grade, region, vaccination willingness of surrounding classmates, vaccination willingness of others, fear of SARS-CoV-2 and risk of SARS-CoV-2 infection( χ 2=8.43-1 059.43, P <0.05). Multinomial Logistic regression analysis presented that, compared to "vaccine acceptance" group, those girls, non resident in school, living in Beijing or Anqing, disagree or uncertain with influenced by peers, disagree or uncertain with influenced by others, uncertain with fear of SARS-CoV-2, disagree or uncertain with having risk of SARS-CoV-2 infection were more likely to show vaccine hesitancy( OR =1.22,1.21,1.49,1.69,1.75,2.54,1.41,2.32,3.32,1.99,2.38, P <0.05). And those non boarding in school, living in Beijing or Xi an, disagree or uncertainty influenced by peers, disagree or uncertainty influenced by others, disagree with fear of SARS- CoV- 2, disagree or uncertainty in having risk of SARS-CoV-2 infection were more likely to show vaccine refusal ( OR =1.27, 2.29 ,1.46,3.88,2.37,2.31,1.47,2.14,4.24,1.47, P <0.05). Conclusion The willingness of COVID-19 vaccination among middle school students in four cities is low, and targeted interventions should be advocated to form herd immunity.

Objective: To explore the longitudinal association between organophosphate esters (OPEs) exposure and blood pressure in children, so as to provide a reference for identifying the effects of OPEs exposure on child health. Methods: A total of 404 children from the Beijing Child Growth and Health Cohort (PROC) were enrolled using a case cohort study design, baseline physical examination, urine collection, questionnaires survey were administered in 2018 and follow up surveys in 2019-2020 and 2023. Participants were divided into case group ( n =140) and control group ( n =264) according to the observation of new onset of high blood pressure during the follow up period. High performance liquid chromatography tandem mass spectrometry was used to detect diethyl phosphate (DEP)，bis (2-chloroethyl) phosphate (BCEP)，bis (1-chloro-2-propyl) phosphate, (BCIPP), diphenyl phosphate(DPHP), dibutyl phosphate (DnBP), bis (1,3-dichloro-2-propyl) phosphate(BDCIPP), bis(2-butoxyethyl) phosphate(BBOEP), bis (2-butoxyethyl) 2-hydroxyethyl phosphate (BBOEHEP), 4-hydroxyphenyl diphenyl phosphate (4-OH-TPHP). Generalized linear mixed models and Quantile g computation models were developed to analyze the longitudinal associations between OPEs individual/mixed exposure and blood pressure in children. Results: The detection range of 9 OPEs metabolites,including DEP, BCEP, BCIPP, DPHP, DnBP, BDCIPP, BBOEP, BBOEHEP and 4-OH-TPHP at three time points (baseline, first follow up and second follow up) were 27.7%-92.1%, 24.0%-99.3% and 39.2%-90.9% respectively. Without adjustment for covariates such as gender, age, body mass index, Tanner stage, parental education, and monthly household income, and family history of hypertension, the increase of BDCIPP concentration and mixed exposure of OPEs may reduce children s systolic blood pressure( β= -0.85，-2.40，95%CI=-1.69--0.01，-3.30--1.50，P <0.05). After adjusting for the covariates, the longitudinal association of individual OPEs or mixed exposure with pediatric BP was not statistically significant ( P >0.05). Conclusion Children are commonly exposed to OPEs, and although no significant longitudinal associations are observed between exposure to OPEs and blood pressure among school aged children in Beijing, it is recommended that child exposure should be minimized whenever possible.

Objective: To explore sex difference in the cardiovascular health (CVH) status of 6-8 year old children in Beijing, so as to inform the early intervention of CVH related lifestyles. Methods: Based on the Beijing Children s Growth and Health Cohort (PROC), baseline physical examination, sequential questionnaire survey, and laboratory tests were conducted among 1 914 grade 1 students. Children s CVH and its subscales (health behaviors and health factors) scores were calculated according to the Life s Essential 8 (LE 8) index and categorized into high, moderate, and low CVH. CVH scores were reported as medians and interquartile ranges; sex differences were compared using the Chi square test and Wilcoxon test. Results: Among the 1 914 participants, the percentages of high, moderate, and low CVH were 35.7%, 63.5%, and 0.8%, respectively, and the percentages of high, moderate, and low health behavior scores were 25.9%, 67.5%, and 6.6%, respectively, with no statistically significant differences between sex ( χ 2=2.30, 0.07, P >0.05). The rates of high, moderate, and low health factor scores for boys and girls were 61.1%, 36.0%, 2.9% and 71.1%, 28.4%, 0.5%, respectively, with a statistically significant sex difference ( χ 2=31.88, P < 0.01). The overall CVH score was 76.0(70.0, 83.0), 76.0(69.0, 82.0) for boys, and 77.0(71.0, 83.0) for girls. Among the health behavior metrics, sleep scores were the best and physical activity scores were the worst[100.0(90.0,100.0), 40.0(20.0, 80.0 )]; among the health factor metrics, blood glucose scores were the best and lipid scores were the worst[100.0(100.0,100.0), 60.0(40.0,100.0)]. In respect to health factors, there were significant gender differences in body mass index, blood lipids, blood sugar, and blood pressure scores ( Z =-6.92, 3.01, -6.60, -2.30, <0.05), but there were no significant gender differences in diet, physical activity, nicotine exposure, or sleep scores with regards to health behaviors ( Z =0.99, 0.88, -0.13, 0.36, P > 0.05 ). Compared to boys, girls in the low and moderate CVH groups had high health factor scores despite low health behavior scores. Conclusion Most 6 to 8-year-old children in Beijing were found to have relatively good CVH, and optimization of children s CVH status can be achieved by promoting healthier lifestyles and monitoring health factors, especially among boys.