OBJECTIVE: To explore the clinical characteristics and genetic basis of a child with autism spectrum disorder (ASD) in conjunct with congenital heart disease (CHD). METHODS: A child who was hospitalized at the Third People's Hospital of Chengdu on April 13, 2021 was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). A GTX genetic analysis system was used to analyze the WES data and screen candidate variants for ASD. Candidate variant was verified by Sanger sequencing and bioinformatics analysis. Real-time fluorescent quantitative PCR (qPCR) was carried out to compare the expression of mRNA of the NSD1 gene between this child and 3 healthy controls and 5 other children with ASD. RESULTS: The patient, an 8-year-old male, has manifested with ASD, mental retardation and CHD. WES analysis revealed that he has harbored a heterozygous c.3385+2T>C variant in the NSD1 gene, which may affect the function of its protein product. Sanger sequencing showed that neither of his parent has carried the same variant. By bioinformatic analysis, the variant has not been recorded in the ESP, 1000 Genomes and ExAC databases. Analysis with Mutation Taster online software indicated it to be disease causing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic. By qPCR analysis, the expression level of mRNA of the NSD1 gene in this child and 5 other children with ASD was significantly lower than that of the healthy controls (P < 0.001). CONCLUSION The c.3385+2T>C variant of the NSD1 gene can significantly reduce its expression, which may predispose to ASD. Above finding has enriched the mutational spectrum the NSD1 gene.
Male ; Child ; Humans ; Autism Spectrum Disorder/genetics* ; Heart Defects, Congenital/genetics* ; Computational Biology ; Genomics ; Mutation ; RNA, Messenger/genetics* ; Histone-Lysine N-Methyltransferase/genetics*

The integration of regional medical centers and community health service centers is an effective way to improve the professional ability of general practitioners in post-practice training. Its major advantage lies in the establishment of a regional general practitioner ability improvement system integrating assessment, practice and teaching under the unified health administrative department. This article introduces the path of general practitioner post-training developed by Shanghai Tongren Hospital in forms of a regional medical center combined with the community health service center under the "integrated dual-drives" model, which was carried out in Shanghai Changning District; and its preliminary accomplishment is also discussed. It may provide reference for regional medical centers to improve the ability of general practitioners through practice-driven and teaching-driven.

Objective:To analyze the clinical knowledge and training needs of general practitioners from subjective perception and objective assessment, and to analyze their relationship.Methods:A survey was conducted among general practitioners from community health service centers in Shanghai Changning district from September to December 2020. Based on the general practitioner competency indicator system designed by the project team, 17 clinical knowledge competency evaluation indicators were developed through expert consultation, and used for subjective perception and objective assessment of clinical knowledge and learning needs among general practitioners. The influencing factors of objective assessment scores were analyzed, and the relationship between subjective perception and objective assessment scores was analyzed using the four quadrant method.Results:A total of 136 general practitioners participated in the study with the mean age of (39.25±5.90) years, most of whom were attending physician (67.65%, 92/136) and had undergraduate education (88.20%, 122/136). The average daily application frequency score was (1.55±0.21), and the training needs score was (1.65±0.09) for 17 clinical knowledge items; the average objective evaluation score was (74.21±14.0) points. The older the age ( OR=1.25, 95% CI:1.14-1.37), the higher the educational level ( OR=2.11, 95% CI:1.57-2.83), and the longer the working years ( OR=1.16, 95% CI:1.04-1.30) were significantly correlated with the higher objective evaluation scores (all P<0.05). The objective evaluation scores of endocrine diseases such as diabetes, cerebrovascular diseases and respiratory diseases are the highest, and the daily application frequency and learning needs are high (the first quadrant); The objective evaluation scores of common orthopedic diseases, common psychological diseases, and planned immunity indicators were relatively low, but their daily application frequency and learning needs were relatively high (second quadrant). The objective evaluation scores of indicators such as common malignant tumors, common dermatology diseases and health problems, and common ENT diseases were low, and the daily application frequency and learning needs were also low (the third quadrant). The objective evaluation scores of indicators such as hospice and palliative care are relatively high, but their daily application frequency and training needs are relatively low (listed in the fourth quadrant). Conclusions:The clinical knowledge levels of general practitioners are correlated with age, education level, and years of practice. There is a certain overlap between the objective evaluation results of clinical knowledge and the frequency of knowledge usage and training needs of general practitioners, and a targeted training mechanism should be established.

Objective:To construct an evaluation scale for post competence of family doctors based on knowledge-skill-management model.Methods:The evaluation dimensions and indicators for post competency of family doctors were preliminarily developed through literature review, internal group meeting and brainstorming, and in-depth interviews of experts. And 16 experts in the fields of general practice and health management were invited for 2 rounds of Delphi consultation from December 2020 to April 2021. A competency evaluation scale for family doctors based on the dimensions of knowledge, skills and management was finally constructed.Results:The age of the experts was (47.9±7.3) years with a working experience of (24.6±7.8) years. The Cronbach′s α of the questionnaires was 0.891 and the KMO was 0.844. The positive coefficients for 2 rounds of expert consultation were 100%; the familiarity level of experts was 0.86 and authority level was 0.89 in the first round consultation, and those were 0.84 and 0.90 in the second round consultation. After 2 rounds of consultation, the coordination coefficient of expert opinions in the knowledge and skill dimensions was>0.5, and that in the management dimension and overall evaluation system was>0.3. After discussion 2 indicators were deleted in the first round of consultation. The finally constructed family doctor post competency evaluation scale included 3 dimensions, 8 secondary indicators and 61 tertiary indicators. Conclusion:Through the Delphi consultation, we have successfully constructed an evaluation scale for post competence of family doctors based on the three dimensions of knowledge, skills and management.

Objective:To develop an occupational internal driving force measurement scale for general practitioners receiving residency training, and to investigate its reliability and validity.Methods:A pool of items was constructed for the scale based on the literature analysis and qualitative interview results of occupational internal driving force and the current development status of general practitioners, and then expert Delphi consultation was conducted to form the initial version of the scale. A questionnaire survey was conducted among 403 general practitioners to test the reliability and validity of the scale.Results:There were 11 items in the occupational internal driving force scale for general practitioners receiving residency training, which were divided into three dimensions. The scale had a Cronbach's α coefficient of 0.945, and each dimension had a Cronbach's α coefficient of above 0.850; the KMO coefficient of the Bartlett's sphericity test was 0.925. The factor analysis showed that all items had a factor load of ≥0.4 and a commonality of >0.2, and thus 11 items were retained. Three common factors were extracted by the factor analysis and the correlation analysis showed a correlation coefficient of >0 between the common factors of the total score of the scale and a significant positive correlation ( P<0.01). Based on the contents, theoretical research, and expert suggestions of each factor, they were named subject affiliation, development expectations, and identification needs, which contained 3 items, 3 items, and 5 items, respectively. Conclusions:The occupational internal driving force scale for general practitioners receiving residency training has a reasonable structure and good reliability and validity and is suitable for evaluating the occupational internal driving force of general practitioners, which provides guidance for the vocational education of residents.

Objective:To explore the predictive value of peripheral blood CD34-positive cell count for the stem cell mobilization effect of plerixafor in patients with multiple myeloma (MM).Methods:The clinical data of 12 MM patients who used plerixafor for stem cell mobilization in the First Affiliated Hospital of Guangxi Medical University from December 2019 to February 2021 were retrospectively analyzed. The changes of peripheral blood CD34-positive cell count and the collection status of stem cell in all patients before and after the mobilization of plerixafor were analyzed.Results:Twelve patients were included in this study. These patients were in international staging system (ISS) stage Ⅱ-Ⅲ, and the induction therapy was mainly VRD regimen. The CD34-positive cell count was increased after the use of plerixafor in all patients no matter which mobilization strategies were used before plerixafor. The CD34-positive cell count was 3.63/μl (0.72-13.53/μl) and 32.11/μl (8.52-53.68/μl) before and after the use of plerixafor, and the difference was statistically significant ( Z = -0.40, P<0.001); the median increasing time was 11.50 times (1.61-23.71 times). The mobilization failure occurred in 1 patient. The CD34-positive cell count in his blood was less than 1/μl before the use of plerixafor; though increased 11.83 times after the use of plerixafor, the CD34-positive cell count was still less than 10/μl. Pearson analysis showed that among the patients with CD34-positive cell count less than 4/μl before the use of plerixafor, there was a positive correlation in peripheral blood CD34-positive cell count before and after the use of plerixafor ( r = 0.80, P = 0.032). Conclusions:The peripheral blood CD34-positive cell count has a certain predictive value for the stem cell mobilization effect of plerixafor in MM patients.

Objective:To investigate the safety and efficacy of sacral neuromodulation(SNM)therapy for the treatment of lower urinary tract dysfunction(LUTD)in elderly patients.Methods:Clinical data of 91 elderly patients with LUTD from multiple medical institutions who received SNM during the period from January 2012 to December 2016 were retrospectively analyzed.Patients were divided into four groups: the interstitial cystitis(IC)group(n=28), the neurogenic bladder(NB)group(n=36), the overactive bladder syndrome(OAB)group(n=13)and the idiopathic dysuria(ID)group(n=14). Different sets of evaluation parameters were used for different diseases.Patients’ baseline data and data in stage I(test phase)and stage Ⅱ(permanent SNM)were recorded, statistically analyzed and compared.Results:Ninety-one people underwent SNM treatment.Of them, 53 patients received permanent implants(stage Ⅱ), and the total conversion rate of stage I to stage Ⅱ was 58.2%(53/91). Patients receiving permanent implants(stage Ⅱ)had a preoperative period ranging from 3 months to 30 years, and were followed up for 2 to 58 months after treatment, with an average follow-up of 19.6 months.The improvement rates in stage I for urinary urgency, daily urination frequency, daily nocturnal urination frequency, maximum urine volume, daily average urine volume, daily urine leakage frequency, and quality of life score were 35.4%, 31.6%, 33.7%, 32.6%, 49.2%, 43.2% and 13.2%, respectively.The improvement rates in stage Ⅱ for urinary urgency, daily urination frequency, daily nocturnal urination frequency, maximum urine volume, daily average urine volume, daily urine leakage frequency, and quality of life score were 43.2%, 40.0%, 37.8%, 50.5%, 70.5%, 70.4% and 43.2%, respectively.Three adverse events occurred, including 1 case of recurrent symptoms, 1 case of moderate infection, and 1 case of electrical lead dislocation.Conclusions:Sacral nerve stimulation has definitive and consistent curative effects on LUTD in elderly people.The follow-up time should be extended to further study the safety of sacral nerve stimulation.

From March 2019 to May 2019, panel interviews were conducted with 39 representatives of 10 community health service centers in Shanghai Changning District, each took 30 to 90 min. The relevant information of interviews was coded, classified, streamlined, and the interview topics were sorted out. The interviews showed the following problems of continuing education in community health care setting currently: there were lack of updated disease-related clinical guidelines and other knowledge, lack of uniform regulations on rational drug use; the contents or forms of training did not match the needs of the community; and training in psychology and nutrition therapy could not be transformed into practical application. The participants made the following suggestions for continuing medical education: to build a database of clinical guidelines for diseases; to provide information-based support and guidance for rational drug use; to design training contents and training forms based on community needs; to provide training support in psychology, nutrition and other subjects; to increase trainings in research, teaching and health management and other aspects. Continuing medical education for community general practioners faces problems from knowledge users, knowledge providers, and the policy environment. The contents and forms of training needs should be optimized. These can be strengthened by communicating with the community and following up with the needs of the community in establishing diversified training forms, supporting assessment and incentive mechanisms for different types of training contents.

Based on literature analysis and conference discussion, the index system of the competence and performance of general practitioners (GPs) was developed, which consisted of 4 dimensions and 59 indicators. Based on the indicator system, the questionnaire was designed. From March 2019 to May 2019, a questionnaire survey on the ability, performance and training needs of GPs was conducted among the managers of 10 community health service centers in Shanghai Changning District. The dependent variables were analyzed through descriptive analysis, correlation analysis and quadrant mapping methods. The median of overall evaluation score of the performance of GPs in 10 community health service center was 2.7(2.4,2.9); and the mean of training demand score was (1.4±0.5). The performance scores was negatively correlated with the degree of training needs ( r=-0.654, P<0.01). Among the 59 capacity assessment indicators, there were 25 (42.4%) with poor performance but high training demand. The overall ability of general practitioners was common from the perspective of the community health service center managers, suggesting that it is important to strengthen the capacity development for community GPs, and those with poor performance and high training needs should be included in training priority, such as disease diagnosis and treatment, emergency management ability, rehabilitation service ability and medical law.

Objectives To explore the relationship of orthostatic hypotension in elderly hypertensive patients with left ventricular structure and function.Methods 101 cases of elderly patients with hypertension were selected from July 2013 to June 2015.After blood pressure measurement in vertical and decubitus position,all patients were divided into non-orthostatic hypotension and orthostatic hypotension groups,received the echocardiography and the accurate calculation of left ventricular mass index.Results Compared with non-orthostatic hypotension,orthostatic hypotension in patients with left ventricular diastolic diameter,left ventricular posterior wall thinckness and interventricular septum thickness.Left ventricular mass index significantly increased(48.13±5.54)mm vs.(52.45 ± 1.48)mm in left ventricular diastolic diameter,(10.08± 1.87)mm vs.(11.29± 1.98)mm in left ventricular posterior wall thickness,(10.18± 1.88)mm vs.(11.61±1.66) mm in interventricular septum thickness,and (114.59 ± 22.72) g/m2 vs.(131.98 ± 23.43)g/m2 [t=4.386、2.985、4.397、8.672,in left ventricular mass index(BMI),all P＜0.05].Left heart ventricular ejection fraction and mitral peak early/late diastolic blood flow decreased [(60.81 ± 4.73)vs.(53.60±2.58)and(0.93±0.23)vs(0.76±0.26)t=4.298、3.654,all P＜0.05].Conclusions There is relationship of orthostatic hypotension with left ventricular structure and function in elderly hypertension patients,and it is essential not only to control blood pressure effectively,but also to focus on controlling orthostatic hypotension.