Analysis of NSD1 gene variant in a child with autism spectrum disorder in conjunct with congenital heart disease / 中华医学遗传学杂志

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.

Molecular analysis of 23 cases of B subgroup / 中华医学遗传学杂志

OBJECTIVE@#To explore the molecular reasons of weak expression of B antigen on the red cell.@*METHODS@#Serological test for blood group was carried out, including red cell and plasma grouping, and anti-A1 and anti-H testing, and confirming weak A or B antigens by adsorption and elution. Exons 1-7 were sequenced directly, and one of them was cloned and sequenced.@*RESULTS@#All of the 23 samples showed the weak B antigen by serological method. The alleles of the subgroups were identified by DNA sequencing, including 2 Bel subgroup, 4 B3 subgroup, 14 Bw subgroup, 2 CisAB subgroup and a novel allele. The novel allele showed a nucleotide substitution 662G>A in the exon 7, and the sequence was submitted to Blood Group Antigen Gene Mutation Database, and the novel allele was named Bel10.@*CONCLUSION@#Nucleotide substitution in exon results in blood subgroup, which showed that the antigens were weakened, and Bw phenotype was the most frequently subgroup.

Research progress in research on platelets derived from induced pluripotent stem cells in vitro / 国际生物医学工程杂志

Currently, there are insufficient sources of platelets for clinical transfusion, and there are risks of alloimmune reactions and transfusion-transmitted infections (TTI) after transfusion. In recent years, platelets derived from human induced pluripotent stem cells (hiPSCs) have become one of the hottest research topics in the transfusion community, and studies have shown that they have the potential to address the limitations of platelet transfusion and alleviate the conflict between platelet supply and demand in clinical settings. However, the efficiency of hiPSCs in producing functional platelets in vitro is still low, and the yield and quality are still far below clinical transfusion standards. In this review, the basis and applications related to hiPSCs-derived platelets, studies related to human leukocyte antigen (HLA) gene-silenced hiPSC-derived platelets, and challenges faced by hiPSCs-derived platelet products were reviewed, providing references for in-depth research and future clinical applications of hiPSCs-derived platelets.

Effect of clustering nursing on the prevention of urinary tract infection associated with urinary catheter in patients with spinal fracture during perioperative period / 中国实用护理杂志

Objective:To investigate the clinical effect of cluster nursing on the prevention of perioperative urinary catheter associated urinary tract infection (CAUTI) in patients with spinal fracture.Methods:A retrospective case-control method was used to select 160 patients with spinal fracture admitted to the department of spinal cord injury in emergency care from January 2018 to March 2020 in the Department of Orthopaedics General Hospital of Chinese People′s Liberation Army as study subjects, 80 patients admitted to the department of spinal cord injury from January to December 2018 were set as the control group, and 80 patients admitted from January 2019 to March 2020 as the observation group. The control group was given standardized clinical nursing measures during the perioperative period, while the observation group was given cluster nursing measures. The duration of indwelling of catheters, the incidence of catheter reinsertion and the incidence of CAUTI were compared between the two groups.Results:The catheter indwelling time in the observation group was (3.37±0.64) days, lower than that in the control group (6.35±1.52) days. The incidence of catheter insertion and CAUTI was 5.00%(4/80), 3.80%(3/80) in the observation group, lower than 11.30%(9/80), 11.60%(13/80) in the control group. The differences were statistically significant ( χ2 values were -2.927, -2.654, all P<0.05). Conclusions:Cluster nursing intervention for patients with spinal fracture in the perioperative period can effectively shorten the catheter indwelling time, reduce the incidence of catheter re-insertion and the incidence of patients with CAUTI, significantly improve the quality of clinical care in the department, and have positive significance for the treatment and rehabilitation of patients.

Thoughts on breaking away from the " paper-centric" orientation and establishing a new evaluation model of scientific and technological innovation in academic universities / 中华医学科研管理杂志

Objective:To analyze the disadvantages of " paper-centric" in science and technology evaluation, explore how to establish a new evaluation model of scientific and technological innovation in academic universities in China on the premise of breaking the " paper-centric" orientation.Methods:Analyze problems and disadvantages of the " paper-centric" orientation in the evaluation of science and technology at academic universities in China, take account into the in-depth interpretation of key policies of breaking away from " paper-centric" in recent years, and finally make proposal for the establishment of evaluation system and mode of scientific and technological innovation in the future.Results:There are many pitfalls in the " paper-centric" orientation in the evaluation of science and technology in academic universities in China, thus, it is urgent to establish a new evaluation mode of scientific and technological innovation.Conclusions:Based on the current domestic and international context, academic universities in China should deploy the strategy of scientific and technological innovation in advance, break the " paper-centric" orientation, and establish a new evaluation system and mode of science and technology that proactively match the national strategy and the development requirement.

Development strategy of medicine discipline in comprehensive university under the background of "Double First-Class" construction / 中华医学科研管理杂志

Objective To explore what kind of strategies should be adopted by the medical disciplines of comprehensive universities in China,taking into account and respect the particularity nature of medical science,inspiring innovative creation to build the First-Class disciplines.Methods Literature review and quantitative research were adopted in this paper.By reviewing published articles to better understand the special laws of medical disciplines and identify current development problems.Furthermore,the data from ESI,QS Ranking,and the Ministry of Education were collected to reveal problems and to propose strategies.Results The future development of Medicine disciplines possesses the characteristics of integration,technology dependence,heterogeneity,etc.In the new era of building world-class disciplines and first-class universities,compared with international first-class disciplines,peaks of medical disciplines in Chinese universities are still relatively scarce.The comprehensive university medical discipline should adhere to the principle of ‘connotative development’.In the process of construction,medical discipline should pay full attention to cross-integration,promote cross-disciplinary,adjust and optimize the former system.Strengthen the construction of new disciplines development to build medical disciplines with distinctive features.Optimize top-level design to foster disciplines peaks.Attach great importance to the construction of talents to build up high-level talent team with sustainable development ability.Emphasize on medical education to improve the quality of personnel training.Promote institutional innovation to activate the vitality of integration.Build an effective evaluation system to promote construction.Conclusions With the premise of fully respecting the special laws and characteristics,the medical discipline constructions of comprehensive universities should be guided by the future development model of medicine and clinical needs,and adhered to the ‘connotative development’.With the development of medical disciplines,the level of clinical diagnosis and treatment will be improved,the original innovation will be enhanced,as well as the social service capabilities of comprehensive universities,furthermore,the frontiers of scientific development and national strategic development needs will be effectively supported.

Fetomaternal hemorrhage in RhD-negative pregnant women in Tianjin / 国际生物医学工程杂志

Objective To study and monitor the situation of femomaternal hemorrhage (FMH) in RhD-negative pregnant women in Tianjin, obtain the FMH data of such population, and analyze the relationship between FMH and age, blood type, gestational age, hemolytic disease of postpartum neonates, etc. Methods The FMH level was detected by flow cytometry with FITC-anti-HbF monoclonal antibody. The blood type was detected by blood serum method. The irregular antibody was identified by saline method and indirect anti-human ball method. The hemolysis of postpartum neonates was detected by three tests of hemolysis. Results The FMH volume of 86 RhD negative pregnant women was between 0 and 11.48 ml, with an average of 1.82 ml. There were 63.95％of pregnant women showed a volume of FMH<2.0 ml, 23.26％between 2 and 4 ml, 11.63％between 4.0 and 10.0 ml, and 1.16％>10 ml. The proportion of lower FMH in pregnant women≤30 years old was>11.71％higher than that in the pregnant women>30 years old, but the difference was no statistical significant. There was no significant difference in FMH of pregnant women with O, A, B and AB types. The proportion of higher FMH in pregnant women with compatible ABO blood type with her husband was 12.46％ lower than that of the heterozygous cases, but the difference was no statistical significant. The proportion of higher FMH in the pregnant women with 28 to 32 weeks gestational age was 14.55％ higher than that of ≤28 weeks and was 35.32％ higher than that of >32 weeks, and the differences were statistical significant. Three samples in the 86 samples were positive for anti-D antibody, and their three hemolytic test results were strongly positive with the anti-D titer from 1:2 to 1:32 and the FMH volume from 1.50 to 6.93 ml. The proportion of lower FMH in the 10 pregnant women without postpartum hemolysis was 70％ higher than that in 5 pregnant women with postpartum hemolysis, but the differences were not statistical significant. Conclusions The results suggest that monitoring FMH content by flow cytometry can reflect FMH in Rh-negative pregnant women. The studies on the relationship between FMH and age, blood type, pregnant time and hemolytic disease of postpartum neonates can provide basically experimental data for standard use of anti-D immunoglobulin in pregnant women.

Economic Research Progress in Rare Diseases / 中国药师

Objective:To study and collate the economic related research literatures about rare diseases to provide reference for e-conomic researches on rare diseases. Methods: The published literatures about economic researches on rare diseases were retrieved from PubMed,ScienceDirect, Springer, Web of Science, China National Knowledge Infrastructure, Wanfang database and VIP data-base during January 2006 and December 2016. Results and Conclusion:A total of 53 articles met the requirement and included the analysis. In the field of rare diseases economic research, rare diseases economic cost&economic burden research and rare diseases e-conomic evaluation research are the hot research directions. The number of rare diseases budget impact analysis research and rare dis-eases socioeconomic impact research are small. It is suggested that researchers study various aspects of rare diseases economic research in order to provide basis and reference for countries in the world to formulate rare diseases policy.

Economic Research Progress in Rare Diseases / 中国药师

Objective:To study and collate the economic related research literatures about rare diseases to provide reference for e-conomic researches on rare diseases. Methods: The published literatures about economic researches on rare diseases were retrieved from PubMed,ScienceDirect, Springer, Web of Science, China National Knowledge Infrastructure, Wanfang database and VIP data-base during January 2006 and December 2016. Results and Conclusion:A total of 53 articles met the requirement and included the analysis. In the field of rare diseases economic research, rare diseases economic cost&economic burden research and rare diseases e-conomic evaluation research are the hot research directions. The number of rare diseases budget impact analysis research and rare dis-eases socioeconomic impact research are small. It is suggested that researchers study various aspects of rare diseases economic research in order to provide basis and reference for countries in the world to formulate rare diseases policy.

Analysis of demands of African students for China-Africa malaria preven-tion training / 中国血吸虫病防治杂志

Objective To understand the demands of African students on the China?Africa malaria prevention training pro?grams as well as explore further suggestions on the student selection and course content design. Methods A self?administered questionnaire survey was conducted,and all the students who attended in the malaria prevention training courses in 2014 and 2015 were included. The Chi?square test was conducted to analyse the correlations between professional backgrounds ,work stat?ues and training needs. Results A total of 161 individuals were sampled eventually. These participants were trained in either English(58.4%)or French(41.6%). Most of the participants were male(69.3%),the major of them were mainly clinical tech?nology specialty(40.0%),and most of them worked in malaria area within 10 years(56.4%). Moreover,48.2%of the partici?pants used more than 76%of total work time on malaria control,and more than 80%worked in national or provincial/municipal level. The working areas of these participants were focused on clinical field(41.4%)and official field(29.9%),and only a few of them were from research positions(11.9%). The most needed course content in malaria training was strategy and epidemiolo?gy knowledge for malaria prevention and control(65.5%),while clinical workers were most needed to be trained(39.2%). The participants who came from French speaking countries preferred strategy training(χ2=12.528,P<0.01),and those worked in the national level were aslo more likely to choose strategies training course(χ2=10.508,P<0.05). Conclusions Currently, the China?Africa malaria prevention training programs could basically satisfy African students’needs. However,more aimed courses should be designed according to their professional backgrounds,national situation,work experiences on malaria con?trol,and institutional levels.

Status quo of National Essential Medicine System in village clinics of a province in western Chi-na / 中国卫生政策研究

Objective:To study the status quo of National Essential Medicine System ( NEMS) in village clinics of a province in western China. Methods:Individual in-depth interview was carried out with village doctors and their managers of a province in western China, to understand the subsidies of zero-markup rate, compensations for general medical fees, and status quo of NEMS assessment mechanism and its impacts on prescribing behavior of village doc-tors. Results:In the surveyed area, the intervention of NEMS has not achieved the desired objectives: the prescri-bing behavior of village doctors has not changed significantly;general medical fee system has failed to achieve reason-able compensations;and the assessment mechanism done by village doctor managers has been a mere formality. Con-clusions and Suggestions:To ensure the feasibility, effectiveness and sustainability of the intervention, the area poli-cymakers should take into full consideration the special nature of village doctors.

Social determinants of the life quality among the elderly in Beijing, China / 北京大学学报(医学版)

Objective:To verify the association between social determinants and the quality of life ( QoL) among the elderly in Beijing .Methods:A questionnaire household survey was conducted and 1 685 over 60 dwellers in Beijing were interviewed .The EQ-5D scale was used to measure the elderly ’ s QoL and Time Trade-off model was used to calculate the EQ-5D index.Multiple linear regression and Logistic regression were employed to analyze the association between social determinants and the QoL .Results:There was no statistical significant difference in the QoL between the urban and the rural residents ( P>0 .05 ) .The elderly with higher education level and income or married tended to have higher overall QoL scoresand better performance of five dimensions of the QoL (P<0.05).Conclusion:More policies should be focused on the elderly with lower social determinants in both urban and rural areas in Beijing .