Objective To understand the schistosomiasis prevention knowledge of middle school students from areas with dif-ferent endemic levels in Hubei Province. Methods The schistosomiasis endemic regions were divided into transmission con-trolled areas and endemic controlled areas in Hubei Province,middle school students from different types of areas were selected through stratified randomized cluster sampling and were investigated by questionnaire. Results A total of 3 204 students were se-lected and investigated. The awareness rate of schistosomiasis prevention and control knowledge among the students ranged from 65.1%-90.3%. Overall,the students from endemic controlled areas had higher knowledge rates of all the items than those from transmission controlled areas(all P<0.05). The middle school students acquired schistosomiasis prevention knowledge mainly from the teachers,parents,doctors and schistosomiasis staff. Conclusion Health education to students should adopt different ways targeting at different endemic levels in the future.

Objective To understand the prevalence and influential factors of allergic diseases among infants aged 6-24 months in Enshi prefecture to provide the basis for the prevention of the allergic disease in infants and young children .Methods 1 724 in-fants were extracted by using multi-stage stratified cluster sampling and the data including the demographic characteristics ,family condition ,caregiver condition and behavior ,and allergic disease information were collected by the questionnaire survey .The multiva-riate Logistic regression analysis was performed to analyze the influential factors of allergic diseases .Results Among the investiga-ted infants and young children ,the prevalence of allergic diseases was 11 .83% ,which was dominated by eczema with the prevalence of 7 .54% ,followed by allergic asthma (1 .97% ) .The univariate Logistic regression analysis showed that allergic diseases were as-sociated with the nationality (χ2 =17 .865 ,P=0 .000) ,month age(χ2 =9 .420 ,P=0 .009) ,feeding patterns(χ2 =6 .304 ,P=0 .043) and ,time for adding solid food(χ2 =12 .695 ,P=0 .002) and family income(χ2 =9 .259 ,P =0 .010) .The multivariate Logistic re-gression analysis showed that the ethnic minority [OR95% CI:1 .86(1 .27~2 .73) ,P=0 .001]and artificial feeding [OR95% CI:1 .17 (1 .01~2 .82) ,P=0 .045]had the higher risk for suffering from allergic diseases ,the month age between 18 to 24 months[OR95%CI:0 .57(0 .39~0 .84) ,P=0 .005]and the family income>30 000 yuan each year [OR95% CI:0 .64(0 .43~0 .96) ,P=0 .030]were negatively correlated with the allergic diseases in infants and young children .Conclusion The prevalence of allergic diseases among infants and young children aged 6-24 months in Enshi prefecture is relatively higher and the infants of ethnic minority ,low month age ,artificial feeding and lower family income have the higher risk of allergic diseases .

Objective To explore the prevalence and influential factors of chronic respiratory system diseases among resi-dents over 1 5 years old in Hubei province and provide evidence for disease prevention.Methods During October to November in 2013,through stratified cluster sampling,we sampled 20 cities or counties.The survey included the the general condition of family, individual,chronic diseases.Results A total of 28 563 residents answered the questionnaire and 423 of them reported chronic re-spiratory system diseases by themselves.The prevalence rate was 14.8‰.These included 229 cases with COPD(54.1%),44 cases with asthma(10.4%),35 cases with chronic pharyngolaryngitis(8.3%)and 1 1 5 cases with other chronic respiratory system disea-ses(27.2%).In urban and rural area,the prevalence rate were 13.6‰ and 1 5.7‰ respectively.Multivariate logistic analysis showed that gender,age,economic status and medical insurance are influential factors of chronic respiratory system diseases.Conclusion Prevalence rate of chronic respiratory system diseases among residents over 1 5 years old in Hubei province was slightly increased and disease control measures should be brought out.

Objective To understand the spatial and temporal distribution of HIV/AIDS in Hubei province,and provide scientific evidence for the prevention and control of AIDS.Methods GeoDa software was used for autocorrelation analysis,SatScan 9.2 software was used for statistical analysis of spatial scanning,and finally geographic information system was used for visualization.Results A total of 6 952 HIV/AIDS cases were reported during 2010-2013 in Hubei,and the spatial autocorrelation analysis showed that Global Moran's I index was 0.266 (P＜0.05),indicating that there was a positive spatial autocorrelation of HIV/AIDS.Global Moran's I index increased year by year (P＜ 0.05),indicating that the increased spatial aggregation of HIV/AIDS during 2010-2013.The local Moran's I index showed that "high-high" clustering areas were in Wuhan,and the number of "high-high" clustering areas increased during 2010-2013.Moreover,the "high-high" clustering areas expanded from Wuhan to surrounding areas.Spatial and temporal scan analysis revealed that 19 counties in Wuhan,Huangshi,Ezhou,Xianning with a radius of 60.01 km (LLR=625.14,RR=3.23) were the main spatial and temporal clustering area during 2012-2013.Conclusion The spatial changes of HIV/AIDS seemed to be regular from 2010 to 2013 in Wuhan,spatial correlation at provincial level decreased and the "high-high" clustering areas gradually expanded from Wuhan to surrounding areas,indicating that it is necessary to strengthen the AIDS prevention and control in these areas in Hubei.

Objective:To evaluate the value of monitoring regional cerebral oxygen saturation (rSO 2) in the prognosis of comatose children in pediatric intensive care unit (PICU). Methods:A total of 127 coma children who admitted to PICU at Henan Children′s Hospital from January 2019 to September 2021 were collected and divided into mild[Glasgow coma score(GCS): 13-15], moderate(GCS: 9-12) and severe coma(GCS: 3-8) groups according to GCS.A cerebral oxygen monitor was used to monitor the rSO 2 of all children before treatment, and on the 3rd, 7th and 14th day after treatment.The outcomes were assessed according to the pediatric cerebral performance category (PCPC), and the children were divided into recovery group(PCPC score: 1), disability group(PCPC score: 2-4) and poor prognosis group(PCPC score: 5-6). Multiple linear regression and receiver operating characteristic(ROC) curve were used to analyze the correlation between rSO 2 and PCPC score. Results:rSO 2 in mild, moderate and severe coma groups before treatment were (78.06±3.21)%, (66.07±6.05)%, and (52.87±6.49)%, respectively ( F=209.263, P<0.05). rSO 2 before treatment was positively correlated with GCS( r=0.806, P<0.05). There were significant differences in rSO 2 among recovery group, disability group and poor prognosis group before treatment and that on the 3rd, 7th and 14th day after treatment ( P<0.05). Notably, rSO 2 in recovery group was higher than that in disability group, and rSO 2 in disability group was higher than that in poor prognosis group.The rSO 2 of three groups showed an increasing trend over time ( P<0.05). Multiple linear regression analysis showed that rSO 2 on the 7th and 14th day of treatment were independent prognostic factors ( OR -0.042, 95% CI -0.082~0.003, P<0.05; OR -0.047, 95% CI -0.094~0.000, P<0.05). ROC analysis showed that rSO 2 on the 7th day of treatment had a relatively higher prognostic value for children in coma, and the area under the ROC curve for predicting the prognosis of abnormal brain function and no wakefulness were 0.741 and 0.746, respectively. Conclusion:Monitoring rSO 2 has predictive value for the prognosis of brain function of coma children in PICU, in which the prognostic value of rSO 2 on the 7th day after treatment is relatively higher and can be used as a reference index for prognosis assessment of coma children in PICU.

Tongue diagnosis is an important method of TCM diagnosis and treatment.Tongue is the key link of auxiliary diagnosis of tongue feature extraction and processing,and also is the bottleneck of intelligent tongue diagnosis in traditional Chinese medicine.Using image processing,artificial intelligence technology to the tongue as a quantitative and identify characteristics of traditional Chinese medicine,looking for both conforms to the original thinking of TCM,and TCM tongue diagnosis method of accurately,has become a common concern of traditional Chinese medicine and computer field.From the mobile terminal tongue as auxiliary diagnostic system of traditional Chinese medicine tongue acquisition basic attribute,tongue diagnosis and image information building,tongue like features are required for accurate extraction and so on related key technology is analyzed,and build overall architecture,so as to provide technical reference for the tongue like intelligent diagnosis,promote the development of technology of tongue diagnosis in traditional Chinese medicine modernization.

OBJECTIVE: To conduct clinical and genetic analysis of two male patients with atypical Rett syndrome. METHODS: Collection of clinical data in the two patients and these parents; whole exome sequencing (WES) was used to detect the potential variants, which were verified by Sanger sequencing. X chromosome inactivation (XCI) detection is performed in the Patient 1's mother to detect the allelic expression difference of the MECP2 gene. RESULTS: Patient 1, a 5-year and 10-month-old boy, had mental disorders and mild intellectual disability (ID) (IQ: 54), whose mother had ID. Patient 2 was a 9-month and 18-day-old male presented with recurrent infections, respiratory insufficiency, hypotonia and global developmental delay. WES indentified a hemizygous mutation, c.499C>T (p.R167W), in the MECP2 gene in patient 1, which was inherited from his mother. The inactivation of X chromosome is skewed, and the expression ratio of wild-type and mutant MECP2 is 100%:0. Patient 2 was found a de novo splicing mutation, c.62+2_62+3del in the MECP2 gene. They were both reported pathogenic variant related to Rett syndrome. c.499C>T (p.R167W) was defined as likely pathogenic (PS1+PM2+PP3) and c.62+2_62+3del was pathogenic (PVS1+PM2+PM6) based on American College of Medical Genetics and Genomics standards and guidelines. CONCLUSION Both the two patients were diagnosed with rare male Rett syndrome, which had atypical clinical manifestations and large difference. Above foundings have revealed novel phenotypes in Chinese male patients with Rett syndrome.
Craniosynostoses ; Female ; Genetic Testing ; Humans ; Intellectual Disability/genetics* ; Male ; Methyl-CpG-Binding Protein 2/genetics* ; Mutation ; Phenotype ; Rett Syndrome/genetics*

Objective:To explore the clinical phenotype and gene characteristics of a case of TSC2/PKD1 adjacency gene syndrome, so as to improve the clinical understanding of the disease.Methods:A case of TSC2/PKD1 adjacency gene syndrome diagnosed in the Department of Neurology of the Children′s Hospital Affiliated to Zhengzhou University was analyzed retrospectively. The clinical data, laboratory examination, imaging characteristics and gene variation characteristics of the child were summarized.Results:The patient was a 17 months old girl, with the main complaint of "intermittent convulsion with 17 months of underdevelopment". The clinical manifestations were epileptic seizures, which were in the form of a series of spastic seizures, absence seizures, focal seizures, and depigmentation spots can be seen in the trunk and neck. Cranial magnetic resonance imaging showed multiple patchy signals in the cortex and subcortical areas of the bilateral cerebral hemispheres, multiple small nodular shadows under the ependyma of the bilateral lateral ventricles, the heart color Doppler ultrasound showed patent foramen ovale and pericardial effusion, and the abdomen color Doppler ultrasound showed polycystic kidney. Ophthalmic color Doppler ultrasound showed that there were localized small swelling lesions around the optic disc of the left eye. The whole exon gene sequencing of the pedigree showed the proband had partial deletion of TSC2 gene (NM_000548) at chromosome position chr16: 2125799-2185690. The real-time quantitative detection system verified that exons 23-42 were deleted, and all exons of PKD1 gene were deleted (NM_001009944), and multiple ligation dependent probe amplification verified that exons 1-46 were deleted, and no downstream gene deletion was found. The overall deletion size was about 60 kb. Both of the girl's father and mother had normal phenotypes and were wild-type.Conclusions:TSC2/PKD1 adjacency gene syndrome is relatively rare. It can have clinical manifestations of tuberous sclerosis/autosomal dominant polycystic kidney disease. Most of the nervous system and kidney are seriously affected, and the prognosis is poor. TSC2/PKD1 gene deletion and variation is the genetic cause of the TSC2/PKD1 adjacency gene syndrome.

Objective:To summarize the clinical phenotype and genetic characteristics of Poirier-Bienvenu neurodevelopmental syndrome associated with CSNK2B gene variation. Methods:The clinical and genetic data of a child with Poirier-Bienvenu neurodevelopmental syndrome caused by shear variant of CSNK2B gene who was diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University in March 2022 were collected. Previous relevant literature at home and abroad was reviewed to summarize the clinical characteristics of the disease. Results:The child was a girl aged 13 months, mainly due to "intermittent convulsions for 2 months" for consultation. The clinical manifestations of the girl were normal face, generalized tonic-clonic seizures, low intelligence, language and motor retardation, and there was no abnormality in the long-range video electroencephalography and the head magnetic resonance imaging. No abnormality was found in chromosome karyotype analysis and chromosome coefficient of copy variation analysis. The whole exon gene sequencing test indicated that the child carried de novo heterozygous shear variant of CSNK2B gene c.291+5G>C, which had not been reported in the literature. According to the clinical manifestations and genetic examination results of the child, the diagnosis of Poirier-Bienvenu neurodevelopmental syndrome was clear. The CSNK2B gene of the proband′s parents and the twin sister was wild-type. The application of sodium valproate anti-seizure medication could effectively control the seizures of the child, and by giving rehabilitation function training, the child′s language and gross motor function was improved. Conclusions:The Poirier-Bienvenu neurodevelopmental syndrome is a rare autosomal dominant disorder caused by variants in the CSNK2B gene. The clinical manifestations are infancy-onset seizures, intellectual development disorders, language and motor development disorders, etc, and the video electroencephalogram and skull magnetic resonance are mostly normal. The CSNK2B gene shear variant is the genetic etiology of the proband.

Objective To summarize the clinical characteristics of delayed diagnosis of tuberculosis in children,analyze the risk factors of delayed diagnosis,and support early diagnosis of tuberculosis in children.Methods This is a retrospective analysis based on the clinical data of tuberculosis patients admitted to the Children's Hospital Affiliated to Zhengzhou University from January 2015 to February 2023.The clinical characteristics of children were analyzed in terms of age group.According to the definition of diagnosis delay,the patients were assigned to delayed group and non-delayed group.Univariate analysis and multivariate logistic regression were used to analyze the risk factors for diagnosis delay.Results A total of 82 children with tuberculosis were included(46 cases in delayed diagnosis group and 36 cases in non-delayed diagnosis group).The rate of diagnosis delay was 56.1％.The incidence of acute miliary pulmonary tuberculosis and tuberculous meningitis was significantly higher in children ≤5 years old than that in children＞5 years old(P＜0.05).Diagnosis delay was associated with significantly higher prevalence of chronic fever,cough＞2 weeks,growth retardation and significantly longer duration of empirical antibiotic use compared to the children without diagnosis delay(P＜0.05).Univariate analysis showed that patient origin,contact history,mixed infection,tuberculosis type,molecular biological assay and severe disease were related to the delay of TB diagnosis(P＜0.05).Multivariate logistic regression analysis showed that patient origin[≥3 clinic visits(OR=7.064,95％CI:1.677-29.754)],mixed infection(OR=3.812,95％CI:1.185-12.260),severe disease(OR=3.697,95％CI:1.081-12.646)]were risk factors for diagnosis delay in children.Molecular biological assay(OR=4.642,95％CI:1.318-16.345)was a protective factor.Conclusions The clinical symptoms of tuberculosis in children are atypical.Delayed diagnosis of tuberculosis is common.Multiple clinic visits,mixed infection,and severe disease are the risk factors for diagnosis delay.Tuberculosis should be taken into account for the children with chronic fever,cough and growth retardation who have failed to respond to adequate therapy with third-generation cephalosporin and carbapenems.Molecular biological assay is helpful for early diagnosis of tuberculosis in children with negative sputum smear.