Objective:To explore the clinical features and genetic basis for a child with Intellectual developmental disorder (IDD) and epilepsy.Methods:A child who was admitted to the Children′s Medical Center of the Affiliated Hospital of Guangdong Medical University in February 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Results:The patient, a 3-month-and-27-day female infant, had developed the symptoms in the neonatal period, which included severe developmental delay, respiratory difficulties and pauses, increased muscle tone of four limbs, feeding difficulty, and seizures. Cerebral MRI revealed bilateral cerebellar hypoplasia, and video EEG showed slightly increased sharp waves emanating predominantly from the right parietal, occipital, and posterior temporal regions. WES revealed that she has harbored a missense c. 3196G>A (p.Glu1066Lys) variant of the CLTC gene, which was confirmed to be de novo by Sanger sequencing. Based on the guideline from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PS2+ PM2_Supporting+ PP3). Conclusion:The c. 3196G>A (p.Glu1066Lys) missense variant of the CLTC gene probably underlay the pathogenesis in this child. Above finding has facilitated her diagnosis and treatment.

Objective:To investigate the prevalence of hyperuricemia (HUA) in Bozidun Kirghiz township of Xinjiang Aksu region, and to explore the risk factors for the occurrence of HUA in the local area.Methods:A cross-sectional survey study was conducted by randomly selecting 9 villages in Bozidun Kirgiz Township by the whole-group sampling method and questionnaire were distributed to the households. The questionnaire included: demographic information, history of past illness, personal history, and all subjects were measured for height, weight, blood pressure, abdominal circumference, etc. The diagnostic of HUA if the serum uric acid (SUA) level >420 μmol/L in men or >360 μmol/L in women. The incidences of HUA in different age, sex, food type and life style behavior were analyzed. T test, non-parametric test and Chi-square test were used to analyze the differences among the groups, and logistic regression was used to analyze the risk factors. Results:①A total of 2 138 subjects were surveyed, among which 68 patients were with HUA, the prevalence of HUA in Bozidun Kirghiz township, Aksu region in the general population was 3.18%(68/2 138); the prevalence rate in men was 4.60%(45/978), 45 patients were identified; and the prevalence rate in women was 1.98%(23/1 160), 23 patients were identified. The peak age of HUA in male and female patients was 51~60 years old. ②The prevalence of HUA was lower in those who consumed dairy products ( χ2=6.91, P=0.017), nuts ( χ2=8.43, P=0.038) and eggs ( χ2=7.38, P=0.023), and lower in those who consumed more. Different intake of cereals ( χ2=0.87, P=0.647), meat( χ2=0.82, P=0.662), vegetables and fruits( χ2=5.22, P=0.073) had no effect on the prevalence of HUA.③In terms of different life behaviors, the prevalence of HUA in men who had been smoking was higher than those who had never smoked (57.78%, 28.89%, 13.33%, χ2=8.16, P=0.017). In the relationship between drinking and HUA, the prevalence rates of male always drinking, ever drinking and never drinking were 80.00%, 11.11% and 3.89%, respectively, the difference was statistically significant ( χ2=6.67, P=0.038). ④Multi-factor logistic regression analysis showed that high BMI, old age, high TG, increased Cr and increased WBC were risk factors for the occurrence of HUA [ OR(95% CI)=1.13(1.04, 1.23), 1.03(1.00,1.05),1.39(1.00, 1.93), 1.03(1.02, 1.05), 1.27(1.07, 1.49), all P<0.05]. Conclusion:The prevalence of HUA in Bozidun Kirgiz township in Aksu prefecture of Xinjiang is lower than that in other areas with continental climate. High BMI, old age, high TG, increased Cr and increased WBC count are risk factors for the development of HUA .

Objective It constructs a new culture index system for high-quality development of public hospitals to provide scientific tool for evaluating the level of new culture construction of public hospitals and promoting high-quali-ty development.Methods A pool of indicators was established based on policy combing and literature research.Then,an indicator system was formed through Delphi expert consultation and demonstration,and weighting coefficients were assigned using the hierarchical analysis method.Results The indicator system of the new culture in public hospi-tals contains four primary indicators,eight secondary indicators and 23 specific entries.The four primary indicators are hospital culture system construction,strengthening the orientation of patients'needs,caring for medical staff and distinctive hospital culture.The effectiveness of implementation as an additional dimension contains two secondary indicators and eight specific entries.The weights of the primary indicators are balanced.Among the sec-ondary indicators,institutional planning(0.250),staff care(0.170),medical services(0.130),discipline branding(0.125)and professionalism(0.125)have higher weights.Conclusion The new culture index system for high-quality development of public hospitals is in line with Xi Jinping's cultural thought and the requirements of the new culture for high-quality development of public hospitals.It needs to pay attention to the planning of the cultural system,em-phasises the care of employees and the cultivation of professionalism,and focuses on the construction of medical services and disciplinary brands,so as to promote the construction of the new culture in public hospitals in line with the requirements of the national strategies.

Objective Using the indicator system to objectively evaluate the content and effectiveness of the new culture construction in typical public hospitals,so as to identify problems and put forward suggestions for improve-ment.Methods Applying the new culture index system for the high-quality development of public hospitals con-structed by the research group,it quantitatively evaluated the practice of new culture construction in a tertiary hospi-tal in Shanghai.Results It found that the main body of the hospital's new culture construction scored 98.9 points.The 2 dimensions of hospital culture system construction and carrying out effectiveness(additional indicators)were all full scores.In addition,the dimension of caring for medical staff was 24.8 points,the dimension of strengthening pa-tient demand orientation was 24.6 points,and the dimension of distinctive hospital culture was 24.5 points.There are still deficiencies in the dimensions of the post-diagnosis experience of patients,the cultivation of health habits of staff,and the transformation of scientific research.Conclusion The hospital has taken advantage of the top-level de-sign of cultural construction under the leadership of the Party Committee and has improved the relevant systems.The hospital also focuses on several special cultural projects such as cultural heritage,employee care,optimization of ac-cess to medical care,and popularisation of scientific brands.It propose to promote the high-quality development of the hospital's new culture by carrying out Internet medical care,organizing special staff activities,strengthening the guidance of scientific research policies,and increasing the financial support for projects.

Objective It developed and tested the reliability and validity of the Hospital Culture Perception and Experi-ence Scale for medical staff to provide a scientific tool for assessing medical staff's perceptions and experiences of hospital culture.Methods The scale was constructed with reference to the Dennison model of organisational culture and refined based on policy documents,literature and expert consultation.A hospital was selected to conduct the questionnaire survey.It used item analysis,factor analysis,and Cronbach's α to test scale reliability and validity.Results The total scale contains 43 entries in 4 subscales:institutional initiatives,practitioner perception,manage-ment training and mission commitment.Item analysis results showed that the scale had good differentiation;the Cronbach's αof the total scale was 0.992,and the Spearman-Brown was 0.979,with good reliability.Exploratory factor analysis results suggested that the institutional initiative,practitioner perception,and management training sub-scales had only 1 dimension,with a variance contribution rate of 77.12％,76.33％,and 85.75％,respectively.For the mission subscale,2 male factors were extracted,with a cumulative variance contribution rate of 91.34％.The factor loadings were all greater than 0.4.The validation factor analysis results shows that the model fit is good.The AVE of each subscale and dimension is greater than 0.5,and the CR is greater than 0.7,which indicates that the convergent validity is good.Conclusion The scale has good reliability and validity,and can be used to quantitatively as-sess the medical staff's perception and sense of experience of hospital culture.

Objective It investigates medical staff's perception and experience sense of hospital culture,and analy-ses its influencing factors.This can further play the role of hospital culture construction on medical staff's motiva-tion,and improve medical staff's work motivation to provide reference basis.Methods The Medical Staff's Percep-tion and Experience of Hospital Culture scale developed by the research team was used to conduct a questionnaire survey with on medical staff in the sample hospital.Descriptive analysis,single factor analysis and multiple linear re-gression analysis were used to study the medical staff's perception and experience of hospital culture and its influ-encing factors.Results A total of 629 valid questionnaires were collected.The overall score rate of medical staff's per-ception and experience of hospital culture was over 90%.Among them,the highest scoring rate of the mission bearing subscale,and the dimension with higher scores was vision and goals.However,the experience of work environ-ment,promotion system and research environment is relatively low.The results of the one-way test showed that the differences in the scores of hospital culture perception and experience among medical staff with different educa-tion levels,titles and job positions were statistically significant(P＜0.05).Conclusion Medical staff generally support the construction of hospital culture.It is suggested that the hospital culture development strategy should be formulated from the perspective of the staff and according to their goals,problems and needs.It is also recommended to con-tinuously improve the medical staff's perception and experience of the hospital culture according to their needs,so as to play a positive role in the high-quality development of the hospital by culture construction.

Objective It developed a hospital culture awareness and experience scale for patients and their families and its reliability and validity were verified.The scale provides a tool for investigating patients'and families'experiences of hospital culture and promoting hospital culture building.Methods A scale that meets policy requirements and practice needs was designed with reference to a theoretical framework of hospital customers satisfaction index and it was refined through expert consultation.Patients and family members of a sample hospital were selected for the survey,and the reliability and validity of the scale were tested by item analysis,factor analysis and Cronbach's α.Results The scale contains 29 items in 3 dimensions of service perception,value recognition and cultural knowledge.Item analysis results showed that the scale had good differentiation.The Cronbach's αof the total scale was 0.975,and the Spearman-Brown was 0.934,with good reliability.Exploratory factor analysis extracted three male factors,with a cumulative variance contribution rate of 76.61%,and the factor loadings of each factor were all greater than 0.4.Validation factor analysis results suggests a better model fit.The CR is greater than 0.7 and the AVE of each dimension is greater than 0.5,which proves that convergent validity is good.Conclusion The scale has good reliability and validity,and can be used to quantitatively assess patients'and their families'sense of knowing and experiencing the hospital culture.It can provide scientific tool for evaluating the status of cultural leadership in helping public hospitals to develop high quality from the patient's perspective.

Objective It investigates patients'and families'awareness and experience of hospital culture and analyses its influencing factors.It provides empirical evidence for optimising hospital brand culture from a demand-side perspective.Methods The Patients'and Families'Awareness and Experience of Hospital Culture scale developed by the research team was used to investigate the awareness and experience status of hospital culture among patients and their families in a sample hospital.Multiple linear regression was used to analyse the influencing factors.Structural equation modelling was constructed to explore the relationship between cultural awareness,service perception and value recognition.Results A total of 4 783 valid questionnaires were collected for the study.The overall score of patients and family members on cultural awareness and sense of experience of the hospital was 80.0%,but the cultural awareness score was only 65.0%.Age,usual place of residence,and the duration of the most recent stay in hospital were the influencing factors for the sense of experience.Structural equation modeling results showed that cultural awareness positively influenced service perception but slightly negatively influenced value recognition,and service perception positively influenced value recognition.Conclusion Patients and their families have a good sense of awareness and experience of hospital culture,but the degree of cultural awareness is poor.It suggest strengthening patient demand-oriented hospital culture publicity.The hospital's characteristic culture is integrated into the whole process of patients'outpatient medical treatment,strengthening the service perception of patients and their families,promoting the recognition of the hospital's cultural value,and enhancing their sense of hospital cultural experience.

Objective It constructs a new culture index system for high-quality development of public hospitals to provide scientific tool for evaluating the level of new culture construction of public hospitals and promoting high-quali-ty development.Methods A pool of indicators was established based on policy combing and literature research.Then,an indicator system was formed through Delphi expert consultation and demonstration,and weighting coefficients were assigned using the hierarchical analysis method.Results The indicator system of the new culture in public hospi-tals contains four primary indicators,eight secondary indicators and 23 specific entries.The four primary indicators are hospital culture system construction,strengthening the orientation of patients'needs,caring for medical staff and distinctive hospital culture.The effectiveness of implementation as an additional dimension contains two secondary indicators and eight specific entries.The weights of the primary indicators are balanced.Among the sec-ondary indicators,institutional planning(0.250),staff care(0.170),medical services(0.130),discipline branding(0.125)and professionalism(0.125)have higher weights.Conclusion The new culture index system for high-quality development of public hospitals is in line with Xi Jinping's cultural thought and the requirements of the new culture for high-quality development of public hospitals.It needs to pay attention to the planning of the cultural system,em-phasises the care of employees and the cultivation of professionalism,and focuses on the construction of medical services and disciplinary brands,so as to promote the construction of the new culture in public hospitals in line with the requirements of the national strategies.

Objective Using the indicator system to objectively evaluate the content and effectiveness of the new culture construction in typical public hospitals,so as to identify problems and put forward suggestions for improve-ment.Methods Applying the new culture index system for the high-quality development of public hospitals con-structed by the research group,it quantitatively evaluated the practice of new culture construction in a tertiary hospi-tal in Shanghai.Results It found that the main body of the hospital's new culture construction scored 98.9 points.The 2 dimensions of hospital culture system construction and carrying out effectiveness(additional indicators)were all full scores.In addition,the dimension of caring for medical staff was 24.8 points,the dimension of strengthening pa-tient demand orientation was 24.6 points,and the dimension of distinctive hospital culture was 24.5 points.There are still deficiencies in the dimensions of the post-diagnosis experience of patients,the cultivation of health habits of staff,and the transformation of scientific research.Conclusion The hospital has taken advantage of the top-level de-sign of cultural construction under the leadership of the Party Committee and has improved the relevant systems.The hospital also focuses on several special cultural projects such as cultural heritage,employee care,optimization of ac-cess to medical care,and popularisation of scientific brands.It propose to promote the high-quality development of the hospital's new culture by carrying out Internet medical care,organizing special staff activities,strengthening the guidance of scientific research policies,and increasing the financial support for projects.