OBJECTIVE: To analyze the clinical manifestation and genetic basis for four children with delayed onset Ornithine transcarbamylase deficiency (OTCD). METHODS: Clinical data of four children with OTCD admitted to the Children's Hospital of the First Affiliated Hospital of Zhengzhou University from January 2020 to April 2021 were reviewed. Peripheral blood samples of the children and their parents were collected and subjected to whole exome sequencing (WES). Bioinformatic analysis and Sanger sequencing verification were carried out to verify the candidate variants. Impact of the candidate variants on the protein structure was also predicted. RESULTS: The clinical manifestations of the four children included vomiting, convulsion and disturbance of consciousness. WES revealed that the child 1 was heterozygous for a c.421C>T (p.R141X) variant in exon 5, children 2 and 3 were hemizygous for a c.119G>A (p.R40H) variant in exon 2, and child 4 was hemizygous for a c.607T>A (p.S203T) variant in exon 5 of the OTC gene. Among these, the c.607T>A variant was unreported previously and predicted to be pathogenic (PM1+PM2_Supporting+PP3+PP4). Bioinformatic analysis has predicted that the variant may result in breakage of hydrogen bonds and alter the protein structure and function. Sanger sequencing confirmed that the variants in children 2 to 4 have derived from their mothers. CONCLUSION The pathogenic variants of the OTC gene probably underlay the delayed OTCD in 4 children. The discovery of the c.607T>A variant has enriched the mutational spectrum of the OTC gene.
Child ; Humans ; Ornithine Carbamoyltransferase Deficiency Disease/genetics* ; Exons ; Seizures ; Computational Biology ; Heterozygote

Post-traumatic stress disorder (PTSD) is a psychiatric disease that seriously affects brain function. Currently, selective serotonin reuptake inhibitors (SSRIs) are used to treat PTSD clinically but have decreased efficiency and increased side effects. In this study, nasal cannabidiol inclusion complex temperature-sensitive hydrogels (CBD TSGs) were prepared and evaluated to treat PTSD. Mice model of PTSD was established with conditional fear box. CBD TSGs could significantly improve the spontaneous behavior, exploratory spirit and alleviate tension in open field box, relieve anxiety and tension in elevated plus maze, and reduce the freezing time. Hematoxylin and eosin and c-FOS immunohistochemistry slides showed that the main injured brain areas in PTSD were the prefrontal cortex, amygdala, and hippocampus CA1. CBD TSGs could reduce the level of tumor necrosis factor-

Objective:To investigate the value of radiomics based on unenhanced CT texture analysis in predicting the WHO/International Society of Urological Pathology (ISUP) grading of clear cell renal cell carcinoma (ccRCC).Methods:Postoperative pathology-confirmed ccRCC subjects ( n=90) who received CT scanning and had a definite pathological grading in Cancer Hospital of the University of Chinese Academy of Sciences were collected retrospectively from December 2016 to May 2019. The cases were randomly divided into training group ( n=63) and test group ( n=27) as a ratio of 7∶3. All cases were classified into low grade (grades Ⅰ and Ⅱ, n=57) and high grade (grades Ⅲ and Ⅳ, n=37) according to the new pathological grading (WHO/ISUP grading, version 2016) of renal carcinoma. 3D-ROI segmentation was performed on unenhanced CT images and 93 texture features were extracted. The least absolute shrinkage and selection operator (LASSO) regression was used to reduct dimension of texture parameters and then the radiomics score (Rad-score) was established. The logistic regression was used to develop the prediction model with the pathological grading as the gold standard. The ROC curve and calibration curve were used to evaluate the predictive performance of the model, and the area under the curve (AUC), accuracy, sensitivity and specificity were calculated. The Hosmer-Lemeshow test was used to evaluate calibration degree of the model. Results:The 10 non-zero coefficient texture features were screened out through dimension reduction steps. The Rad-score was formed according to the linear combination of these ten features and corresponding coefficients, and then the prediction model was developed. The AUC of the model in training group was 0.933 (95%CI 0.862-1.000), the sensitivity was 92.3%, the specificity was 89.2%, and the model accuracy was 90.5%. The calibration curve showed the good calibration ( P=0.257). The AUC value in test group was 0.875 (95%CI 0.734-1.000), the sensitivity, specificity and accuracy were 72.7%, 87.5% and 81.5%. The calibration curve showed the good calibration ( P=0.125). Conclusion:The radiomics prediction model based on unenhanced CT texture analysis have application potential for the evaluation of WHO/ISUP grading of ccRCC.

Objective:Analyze and contruct the post competency model of professionals in centers for disease prevention and control in Beijing, so as to provide information for cultivation and construction of public health personnel, and the human Resource Management in relevant institutions.Methods:Cross-sectional research method was used, and based on literature research, functional analysis and referring to Hay Group Competency Dictionary and McClellan Competency Dictionary, the post competency dictionary was established after the unified discussion of the subject group. Hierarchical cluster sampling method was used to investigate an online survey on competency factors of professionals in centers for Disease prevention and Control in Beijing, and factor analysis was conducted on the survey data.Results:The competency model of professionals in centers for disease prevention and control in Beijing was composed of six factors, which are Public health practical operation skills and norms, public health emergency response thinking and deductive and inductive ability, professional quality and professional ethics, communication, coordination ability and team spirit, medicine humanities knowledge and health management and guidance.Conclusions:This competency model is basically in line with the job responsibilities of professionals in centers for disease prevention and control in Beijing. However, it can only reflect the post competence and ability of the middle and junior technical personnel for practice, so which should belongs to the category of basic competence.

Objective:Analyze and contruct the post competency model of professionals in centers for disease prevention and control in Beijing, so as to provide information for cultivation and construction of public health personnel, and the human Resource Management in relevant institutions.Methods:Cross-sectional research method was used, and based on literature research, functional analysis and referring to Hay Group Competency Dictionary and McClellan Competency Dictionary, the post competency dictionary was established after the unified discussion of the subject group. Hierarchical cluster sampling method was used to investigate an online survey on competency factors of professionals in centers for Disease prevention and Control in Beijing, and factor analysis was conducted on the survey data.Results:The competency model of professionals in centers for disease prevention and control in Beijing was composed of six factors, which are Public health practical operation skills and norms, public health emergency response thinking and deductive and inductive ability, professional quality and professional ethics, communication, coordination ability and team spirit, medicine humanities knowledge and health management and guidance.Conclusions:This competency model is basically in line with the job responsibilities of professionals in centers for disease prevention and control in Beijing. However, it can only reflect the post competence and ability of the middle and junior technical personnel for practice, so which should belongs to the category of basic competence.

OBJECTIVE: To investigate the effect of orthodontic traction on the microstructure of dental enamel. METHODS: Forty-eight isolated premolars were randomly divided into 6 groups (=8), including Group A (blank control group), in which the teeth were bonded with the orthodontic brackets without any loading force; Groups B1, B2, and B3 where the teeth were bonded with the orthodontic brackets using clinical adhesives and loaded with 50 g force for 6 months, 200 g force for 6 months, and 200 g force for 1 month, respectively; and Groups C1 and C2, where the teeth were bonded with straight wire brackets using light curing bonding and chemical curing bonding techniques, respectively. All the teeth were embedded with non-decalcified epoxy resin. Scanning electron microscope (SEM), atomic force microscope (AFM), and energy spectrometer (EDS) were used to analyze interface morphology and elemental composition of the teeth sliced with a hard tissue microtome. RESULTS: Compared with those in Group A, the teeth in the other 5 groups showed increased adhesive residue index with microcracks and void structures on the enamel surface under SEM; AFM revealed microcracks on the enamel surface with angles to the grinding direction. A larger loading force on the bracket resulted in more microcracks on the enamel interface. The interface roughness differed significantly between Groups A and C2, and the peak-to-valley distance differed significantly between Groups A, C, and C2. CONCLUSIONS Orthodontic traction can cause changes in the microstructure of normal dental enamel.
Dental Enamel ; Materials Testing ; Orthodontic Brackets ; Resin Cements ; Surface Properties ; Traction

OBJECTIVE：To investigate the e ffects of Zhuangtongyin water extract （ZTYWE）on hemorheology and blood lipid level of myocardial ischemia-reperfusion model rats ，and preliminarily explore its molecular biology foundation of reducing arrhythmia after myocardial ischemia-reperfusion. METHODS ：Totally 75 SD rats were divided into control group ，model group and ZTYWE low-dose ，middle-dose and high-dose groups. Myocardial ischemia-reperfusion model was established by ligating the left ventricle cyclotron endings for 30 min then reperfusing for 60 min. Since the first day after surgery ，control group and model group were intraperitoneally administrated with same volume normal saline ；ZTYWE low-dose ，middle-dose and high-dose groups were intraperitoneally administrated with medicine solution （6.8，13.6，27.2 g/kg），once a day ，for continuous 28 d. At the 7th， 14th，21st，28th day after surgery ，the incidence rate of arrhythmia of rats were detected. The hemorheology indicators and serum contents of TC ，TG，LDL-C，HDL-C were determined after the last administration. The morphology of myocardial tissue was observed by HE staining. The protein expressions of apoptosis-related factor FAS and FAS-L were detected by Western blotting assay. RESULTS ：Compared with control group ，the incidence rates of arrhythmia of rats in model group were significantly increased；the whole blood contrast viscosity ，hematocrit（HCT），in vitro forming length and quality of thrombosis ，platelet aggregation rate ，erythrocyte filtration index （IF），as well as the serum contents of TC ，TG and LDL-C were significantly increased；in vivo thrombus formation time as well as the serum content of HDL-C were significantly decreased ；the protein expression of FAS and FAS-L were significantly increased （P＜0.05 or P＜0.01）；obvious pathological changes were observed in myocardial tissue. Compared with model group ， the incidence rates of arrhythmia of rats in ZTYWE groups were in obvious reducing trend ； except for the HCT in 163.com low-dose ZTYWE group without significance ， the blood contrast viscosity ，HCT，in vitro forming length and quality of thrombosis ，platelet aggregation rate ，IF as well as the serum contents of TC ，TG and LDL-C were significantly decreased ；in vivo thrombus formation time as well as the serum contents of HDL-C were significantly increased ；the protein expressions of FAS and FAS-L were significantly decreased （P＜0.05 or P＜ 0.01）；the pathological changes of myocardial tissue were improved. CONCLUSIONS ：Through the promoting blood circulation and removing blood stasis effect ，Zhuangtongyin decoction can improve indexes of hemorheology index of ischemia-reperfusion model rats ，reduce the contents of TC ，TG and LDL-C ，enhace the contents of HDL-C ，down-regulate the protein expression of FAS and FAS-L ，so as to inhibit myocardial cells apoptosis and reduce arrhythmia.

Since metabolic process differs between humans and mice, studies were performed in hamsters, which are generally considered to be a more appropriate animal model for studies of obesity-related metabolic disorders. The modulation of gut microbiota, bile acids and the farnesoid X receptor (FXR) axis is correlated with obesity-induced insulin resistance and hepatic steatosis in mice. However, the interactions among the gut microbiota, bile acids and FXR in metabolic disorders remained largely unexplored in hamsters. In the current study, hamsters fed a 60% high-fat diet (HFD) were administered vehicle or an antibiotic cocktail by gavage twice a week for four weeks. Antibiotic treatment alleviated HFD-induced glucose intolerance, hepatic steatosis and inflammation accompanied with decreased hepatic lipogenesis and elevated thermogenesis in subcutaneous white adipose tissue (sWAT). In the livers of antibiotic-treated hamsters, cytochrome P450 family 7 subfamily B member 1 (CYP7B1) in the alternative bile acid synthesis pathway was upregulated, contributing to a more hydrophilic bile acid profile with increased tauro--muricholic acid (TMCA). The intestinal FXR signaling was suppressed but remained unchanged in the liver. This study is of potential translational significance in determining the role of gut microbiota-mediated bile acid metabolism in modulating diet-induced glucose intolerance and hepatic steatosis in the hamster.

OBJECTIVE： To observe the effects of Zhuangtongyin （ZTY） water extract on blood vessels diastolic and systolic function and cardiac function in rats with coronary heart disease （CHD） and its potential mechanism. METHODS： SD rats were randomly divided into control group， sham operation group， model group， positive group （Compound danshen dripping pills， 0.08 g/kg） and ZTY water extract low-dose， medium-dose and high-dose groups （6.8， 13.6， 27.2 g/kg， by weight of water extract）， with 10 rats in each group. Except for control group （no operation） and sham operation group （only open chest without ligation）， CHD model were set up in other groups by ligating the left ventricle cyclotron endings. One week after modeling， control group， sham operation group and model group were given constant volume of water intragastrically， and administration groups were given relevant medicine intragastrically； once a day， for consecutive 4 weeks. Two hours after last administration， cardiac function indexes （LVEDV， LVESV， SV， LVEF） of rats were detected in each group. The levels of inflammatory factors （CRP， IL-1β， IFN-γ and ET-1） in myocardial tissue were determined by ELISA. Histomorphological characteristics of myocardial tissue were determined by HE staining. RESULTS： The structure of myocardial fibers in control group and sham operation group was clear and orderly； there was no statistical significance in difference of each index between 2 groups （P＞0.05）. Compared with control group， myocardial fibers were disorderly arranged in model group， and the phenomena of rupture， dissolution and necrosis were observed， accompanied by infiltration of inflammatory cells. The levels of LVEDV and LVESV as well as the levels of CRP， IL-1β， ET-1 and IFN-γ were increased significantly， while the levels of SV and LVEF were decreased significantly （P＜0.05 or P＜0.01）. Compared with model group， above symptoms of rats in each administration group were improved to different extents； the levels of LVEDV and LVESV as well as the levels of CRP， IL-1β， ET-1 and IFN-γ in positive group， the levels of LVEDV in ZTY water extract medium-dose and high-dose groups， the levels of LVESV and CRP， IL-1β， ET-1， IFN-γ in ZTY water extract groups were decreased significantly. The levels of SV and LVEF in positive group， the levels of SV in ZTY water extract groups as well as the levels of LVEF in ZTY water extract medium-dose and high-dose groups were increased significantly （P＜0.05 or P＜0.01）. CONCLUSIONS： ZTY water extract could reduce the level of ET-1 and improve blood vessels diastolic and systolic function in CHD model rats， then restore blood supply of myocardial tissue and strengthen cardiac function， by acting on inflammation cycle.

Objective To explore the value of CT radiomics model in predicting three-year survival time in patients with primary hepatocellular carcinoma (HCC). Methods Eighty one patients pathologically or clinically confirmed HCC and B stageof Barcelona clinical liver cancer before transcatheter arterial chemoembolization (TACE) in Zhejiang Cancer Hospitalwere retrospectively enrolled from January 2010 to June 2014.A primary cohort consisted of 64 patients and an independent validation cohort consisted of 17 patients. The patients were divided into survival group of 39 cases and death groupof 42 cases duringthree-year follow-up. All the patients underwentnon-enhanced and contrast-enhanced CTimages scan before TACE. Three hundered and seventy six quantization radiomics features were extracted from the arterial phase and portal phase CTimages of target lesion. LASSO regression model was used for data dimension reduction. Logistic regression was used to develop the prediction model. The predictive ability of the model was validated using the area under the curve (AUC) of receiver operating characteristic(ROC) analysis. Results The radiomics features selected from the arterial and portal phase were 8 and 5, respectively. The arterial prediction model showed AUC=0.833, sensitivity=83.9％(26/31), specificity=81.8％(27/33), accuracy=82.8％(53/64)in primary datasetand AUC=0.861, sensitivity=75.0％(6/8), specificity=100.0％(9/9), accuracy=88.2％(15/17)in independent validation dataset.The portal prediction model showed AUC=0.858, sensitivity=83.3％(25/30), specificity=85.3％(29/34), accuracy=84.4％(54/64)in primary dataset and AUC=0.750, sensitivity=75.0％(6/8), specificity=100.0％(9/9), accuracy=88.2(15/17)in independent validation dataset. Conclusion This study shows CT radiomics model can be conveniently used to facilitate the preoperative individualized prediction of three-year survival time in patients with HCC.