【Objective】 To analyze the association between the composition of gut microbiota and blood pressure in children aged 6 - 9 years, in order to provide new ideas for childhood hypertension prevention and treatment. 【Methods】 A total of 411 children aged 6 - 9 years were recruited in Guangzhou from December 2015 to March 2017. The gut microbiota was characterized by 16S ribosomal RNA amplicon sequencing. The multivariate methods with unbiased variable selection in R (MUVR) were performed to identify the significant OTUs. Spearman correlation as well as multiple linear regression were used to explore the relationship between gut microbiota and blood pressure in children. 【Results】 Significant difference in β diversity index was observed between children with normal blood pressure and those with abnormal blood pressure (R²weighted=0.015,Pweighted=0.01; R²unweighted=0.027, Punweighted=0.001). After adjustment for covariates and controlling the false discovery rate (FDR), multiple linear regression analysis showed that blood pressure level in children decreased with the increasing abundance of OTU_3 (genus Blautia), OTU_131 (genus [Clostridium]_innocuum_group), OTU_1776 (genus Blautia), OTU_2159 (genus Prevotella) and OTU_91 (species Bifidobacterium_breve) (β:-0.18 --0.14; PFDR<0.05. In contrast, blood pressure in children increased with the increasing abundance of OTU_108(genus Sutterella), OTU_1(species Faecalibacterium_prausnitzii)、OTU_8(genus Roseburia), OTU_48 (genus Lachnoclostridium), OTU_81 (genus Coprococcus), OTU_401 (family Lachnospiraceae), OTU_1284 (family Lachnospiraceae) and OTU_2793 (family Lachnospiraceae)(β: 0.14 - 0.21; PFDR<0.05. The influence of gut microbiota on systolic pressure and diastolic pressure may be mediated by the increase of body mass index (BMI). 【Conclusions】 Pediatric blood pressure level is associated with the composition of gut microbiota, while BMI partially plays a mediating role in the relationship. It is recommended to modulate the abundance of microbiota as genus Blautia, Sutterella and so on to prevent hypertension in children.

OBJECTIVE: To analyze the clinical phenotype and genetic variant of a child with Snijders Blok-Campeau syndrome (SBCS). METHODS: A child who was diagnosed with SBCS in June 2017 at Henan Children's Hospital was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and the extraction of genomic DNA, which was subjected to trio-whole exome sequencing (trio-WES) and genome copy number variation (CNV) analysis. Candidate variant was verified by Sanger sequencing of his pedigree members. RESULTS: The main clinical manifestations of the child have included language delay, intellectual impairment and motor development delay, which were accompanied with facial dysmorphisms (broad forehead, inverted triangular face, sparse eyebrows, widely spaced eyes, narrow palpebral fissures, broad nose bridge, midface hypoplasia, thin upper lip, pointed jaw, low-set ears and posteriorly rotated ears). Trio-WES and Sanger sequencing revealed that the child has harbored a heterozygous splicing variant of the CHD3 gene, namely c.4073-2A>G, for which both of his parents were of wild-type. No pathogenic variant was identified by CNV testing. CONCLUSION The c.4073-2A>G splicing variant of the CHD3 gene probably underlay the SBCS in this patient.
DNA Copy Number Variations ; Heterozygote ; Pedigree ; Phenotype ; RNA Splicing ; Mutation

Objective: To investigate the factors affecting postpartum stress urinary incontinence (PSUI) among lying-in women at ages of 35 years and older, so as to provide insights into PSUI prevention. Methods: Lying-in women at ages of 35 years and older receiving postpartum examinations were sampled using a convenient sampling method from Hangzhou Obstetrics and Gynecology Hospital during the period from January 2021 to April 2022. Participants' demographic data, type of delivery, birth weight, diastasis recti abdominis, pelvic floor muscle strength injury, pelvic floor muscle training were collected, and the development of PSUI was evaluated using the International Consultation on Incontinence modular questionnaire. The factors affecting the development of PSUI were identified among lying-in women at ages of 35 years and older using a multivariable logistic regression model. Results: A total of 230 questionnaires were allocated, and 226 valid questionnaires were recovered, with an effective recovery rate of 98.26%. The lying-in women had a mean age of (37.30±2.11) years, and 75.66% had a pre-pregnancy body mass index (BMI) of 18.5 to 24.0 kg/m2. There were 29 women with postpartum BMI of 24.0 kg/m2 and greater (12.83%), 201 women with gestational weeks of 37 weeks and greater at delivery (88.94%), 105 women with vaginal delivery (46.46%), 20 women with neonatal birth weights of 4 000 g and higher (8.85%), 149 women with diastasis recti abdominis (65.93%), 154 women with pelvic floor muscle strength injury (68.14%). The prevalence of PSUI was 25.22% among the study subjects. Multivariable logistic regression analysis showed that vaginal delivery (OR=4.061, 95%CI: 2.124-7.763), postpartum BMI of 24 kg/m2 and higher (OR=1.903, 95%CI: 1.275-3.288), neonatal birth weight of 4 000 g and higher (OR=2.108, 95%CI: 1.420-4.135), diastasis recti abdominis (OR=1.487, 95%CI: 1.110-2.169) and pelvic floor muscle strength injury (OR=2.924, 95%CI: 1.726-4.803) were risk factors for PSUI among lying-in women at ages of 35 years and older, and pelvic floor muscle training was a protective factor for PSUI among lying-in women at ages of 35 years and older (OR=0.410, 95%CI: 0.216-0.780). Conclusions The development of PSUI correlates with the type of delivery, postpartum BMI, neonatal birth weight, diastasis recti abdominis and pelvic floor muscle strength injury among lying-in women. Reasonable weight control and active pelvic floor muscle training may facilitate the prevention of PSUI.

OBJECTIVE: To explore the genetic basis for a Chinese pedigree with suspected mitochondrial functional defects through combined next-generation sequencing (NGS), copy number variation sequencing (CNV-seq), and mitochondrial DNA (mtDNA) sequencing. METHODS: Clinical data of the proband and his family members were collected. The patient and his parents were subjected to family-trio whole-exome sequencing (WES), CNV-seq and mtDNA variant detection. Candidate variant was verified by Sanger sequencing. RESULTS: Trio-WES revealed that the proband has carried compound heterozygous variants of the NDUFS1 gene, including a paternally derived c.64C>T (p.R22X) nonsense variant and a maternally derived c.845A>G (p.N282S) missense variant. Both variants may cause loss of protein function. No variant that may cause the phenotype was identified by CNV-seq and mtDNA variant analysis. CONCLUSION Children with suspected mitochondrial disorders may have no specific syndromes or laboratory findings. A comprehensive strategy including mtDNA testing may facilitate the diagnosis and early clinical interventions.
Child ; China ; DNA Copy Number Variations ; Electron Transport ; Humans ; Mutation ; NADH Dehydrogenase/genetics* ; Pedigree

Objective To investigate the clinical and epidemiological characteristics of crayfish associated rhabdomyolysis syndrome in Baiyun District, Guangzhou, and explore the related factors, and to provide evidence for the prevention of crayfish rhabdomyolysis syndrome. Methods The cases of crawfish associated rhabdomyolysis syndrome were found through the foodborne disease surveillance and reporting system, and a field epidemiological investigation was carried out to analyze the clinical and epidemiological characteristics of the cases. Results A total of 25 cases of crayfish associated rhabdomyolysis syndrome occurred in 2020. The intake of crayfish of the cases ranged from 5 to 25, the incubation period was 1 to 9.5h, and the interval from onset to medical treatment was 0.17 to 9h. All the cases had muscle pain, and the content of creatine kinase (CK) in the cases increased to varying degrees (128-17851 U/L). Retrospective cohort analysis of 10 crayfish events found no correlation between the consumption of different parts of crayfish and the incidence of crayfish-related rhabdomyolysis syndrome. Conclusion The incidence of rhabdomyolysis syndrome reported in Baiyun District of Guangzhou is related to the consumption of crayfish, but the pathogenic factors need to be further studied. It is suggested to strengthen the supervision of crayfish breeding, transportation, sales, and processing to ensure the health of consumers.

Objective: To investigate the relationship between classroom lighting and poor vision of primary and middle school students of poor vision with classroom natural light selecting and artificial lighting, so as to provide reference and basis for the prevention and control of eyesight of primary and middle school students. Methods: A total of 1 734 students from 45 classrooms in 7 primary and secondary schools (2 in primary school, 2 in junior high school, and 1 in vocational school) in Baiyun District, Guangzhou were selected by stratified cluster sampling method for research. The classroom lighting environment was monitored by the illuminometer, the naked eye vision of students was detected by 5 m standard logarithmic vision light box, and the basic information and myopia-related behaviors of students were investigated by questionnaire. And the correlation between poor vision of primary and middle school students and classroom lighting was analyzed. Results: The poor vision rate of primary and middle school students in Baiyun District of Guangzhou was 74.2%(1 286), the girls’ rate(79.7%) was higher than boys’(69.4%), the rate of senior high school students(63.4%) was higher than that of middle school students(81.1%), the rate of vocational school students(82.8%) was higher that of primary school students(60.2%), the rate of resident students(78.5%) was higher than that of non-resident students(69.6%). The results of multivariate analysis after controlling for confangulation factors showed that average illumination on the blackboard, and uneven illumination on the desk were associated with higher risk of poor vision[OR(OR95%CI)=1.51(1.01-2.25), 1.42(1.02-1.98),P<0.05)]. Conclusion Poor eyesight of primary and middle school students in Baiyun District of Guangzhou city is serious, especially that of female students, senior high school students and resident students. There is a significant correlation between classroom lighting and poor vision in primary and middle school students. The blackboard and desk lighting are associated with higher risk of poor vision in primary and middle school students.

OBJECTIVE: To investigate the antitumor activity of decoction and study its liver and kidney toxicity and its effect on the immune system in a tumor-bearing mouse model. METHODS: Hepatoma H22 tumor-bearing mouse models were randomized into model group, cyclophosphamide (CTX) group, and low-, moderate-, and high-dose decoction groups (JW-L, JW-M, and JW-H groups, respectively). The antitumor activity of decoction was assessed by calculating the tumor inhibition rate and pathological observation of the tumor tissues. Immunohistochemistry was used to detect the expressions of Bax, Bcl-2, Bax/Bcl-2 and caspase-3 in the tumors. The liver and kidney toxicity of decoction was analyzed by evaluating the biochemical indicators of liver and kidney functions. The immune function of the tumor-bearing mice were assessed by calculating the immune organ index, testing peripheral blood routines, and detection of serum IL-2 and TNF-α levels using enzyme-linked immunosorbent assay. RESULTS: Compared with that in the model group, the tumor mass in CTX, JW-M and JW-H groups were all significantly reduced ( < 0.05) with cell rupture and necrosis in the tumors. Immunohistochemistry revealed obviously up-regulated expressions of Bax and caspase-3 and down- regulated expression of Bcl-2 protein with an increased Bax/Bcl-2 ratio in CTX, JW-M and JW-H groups. Treatment with decoction significantly reduced Cr, BUN, AST and ALT levels, improved the immune organ index, increased peripheral blood leukocytes, erythrocytes and hemoglobin levels, and up-regulated the levels of TNF-α and IL-2 in the tumor-bearing mice. These changes were especially significant in JW-H group when compared with the parameters in the model group ( < 0.01). CONCLUSIONS decoction has a strong anti-tumor activity and can improve the liver and kidney functions of tumor-bearing mice. Its anti-tumor effect may be attributed to the up-regulation of Bax, caspase-3, TNF-α and IL-2 levels and the down-regulation of Bcl-2 expression as well as the enhancement of the non-specific immune function.
Animals ; Antineoplastic Agents, Phytogenic ; pharmacology ; Carcinoma, Hepatocellular ; drug therapy ; immunology ; metabolism ; pathology ; Drugs, Chinese Herbal ; pharmacology ; Kidney ; drug effects ; Liver ; drug effects ; pathology ; Liver Neoplasms ; drug therapy ; immunology ; metabolism ; pathology ; Mice ; Necrosis ; Neoplasm Proteins ; metabolism ; Random Allocation ; Up-Regulation

Objective To investigate the correlation between the indicators of common carotid artery mechanical dynamics, a circumferential wal tension (CWT) and a shear stress (SS), and cerebral smal vessel disease (SVD). Methods The neurological outpatients without obvious cardiovascular disease were enrol ed consecutively. The inner diameters of carotid arteries and blood flow velocity of the patients w ere measured by ultrasound examination, and their CWT and SS w ere calculated. Lacunar infarction and/or leukoaraiosis w ere determined according to the findings of MRI. Results A total of 296 patients w ere enrol ed, 163 of them had lacunar infarction and 132 had leukoaraiosis. Univariate analysis show ed that there w ere significant differences in the distributions of age, hypertension, diabetes, systolic blood pressure, diastolic blood pressure, CWT, and SS betw een the lacunar infarction group and the non-lacunar infarction group, as wel as between the leukoaraiosis group and the non-leukoaraiosis group (al P<0.05). After adjusting for relevant risk factors, multivariate logistic regression analysis show ed that the peak systolic CWT (odds ratio [OR] 3.60, 95% confidence interval [CI] 1.48-8.30) and end diastolic CWT (OR 1.22, 95%CI 1.21-1.25) w ere the independent risk factors for lacunar infarction, w hile the peak systolic SS (OR 0.90, 95%CI 0.75-0.95 ) and end diastolic SS ( OR 0.87, 95%CI 0.84-0.98 ) w ere the independent protective factors for lacunar infarction; the peak systolic CWT (OR 4.67, 95%CI 2.05-10.52) and end diastolic CWT (OR 1.25, 95%CI 1.22-1.47) were the independent risk factors for leukoariosis, w hile the peak systolic SS (OR 0.93, 95%CI 0.75-0.94) and end diastolic SS (OR 0.91, 95%CI 0.85-0.98) w ere the independent protective factors for leukoaraiosis. Conclusions The common carotid artery mechanical stress w as associated w ith the occurrence of SVD.

Objective To investigate the relationship between the quality of life and different frequency of sudden death in Yunnan unexplained sudden death disease area.Methods According to the stratified cluster sampling method,728 individuals were selected as the respondents in Heqing County,Eryuan County of Dali Bai Autonomous Prefecture,and in Dayao County of Chuxiong Yi Autonomous Prefecture.According to the random sampling,649 individuals were selected as the control in Yongping County,Dali Bai Autonomous Prefecture.Data of the quality of life (WHOQOL-BREF version) were collected through household surveys.Analysis method including ANOVA,Chi-squared test and multilinear regression were used.Results Compared with the control population,the household income of population in the diseased area was not significantly different statistically (x2 =7.052,P ＞ 0.05).But the differences in education level and chronic disease situation were statistically significant (x2 =35.727,9.810,all P ＜ 0.05).According to the frequency of the sudden death,from one to four,the total scores of the quality of life,the scores of the physiology domain,the scores of the psychological domain,the scores of the environmental domain and the scores of the social relations domain (1 time:54.30,13.74,14.43,11.21,14.91;2 times:54.75,13.86,14.65,11.12,15.10;3 times:52.40,13.21,13.76,11.00,14.41;4 times:49.21,12.15,12.54,9.87,14.64)were all lower than those of the control group (56.03,14.11,14.78,11.88 and 15.26),the differences between two groups were statistically significant (x2 =41.88,25.75,41.07,35.07,8.08,all P ＜ 0.05);the total scores and each domain score of the quality of life were negatively correlated with the frequency of sudden death (the multi-variables regression coefficient were as follows:-1.195,-0.341,-0.356,-0.314,and-0.185,all P ＜ 0.05).Conclusions The quality of life of those who have lived in Yunnan unexplained sudden death area is associated with the outbreak frequency of sudden death.Following increasing of the outbreak frequency of Yunnan unexplained sudden death,the quality of life of the population living in Yunnan unexplained sudden death area has decreased.