Objective To develop a flow cytometrie assay to for diagnosis of X-Linked Hyper.1gM Syndrome(XHIM).Methods Heparinized peripheral blood obtained from patient,mother and a healthy control was diluted with RPMI- 1640(unstimulated control)or with RPMI-1640 containing 15μl PMA(1 rig/μl)and 6 trl ionomycin(50 ng/μl)(stimulated cell).Using directly labeled antibodies,we have examined CD40 ligand levels on CD3+ CD8- lymphocyte surface,and CD69 levels on CD;lymphocyte Surface to determine whether the cells were activated.Results CD69 levels on CD3+ lymphocyte surface from stimulated group and from unstimulated group were above 96% and below 3%,respectively.CD40L levels Oil CD3 CDs-T lymphocyte surface from stimulated group were 0.8% (patient),60.04%(mother) and 62.87%(healthy contr01).CD40L levels on CD3+ CD8-T lymphocyte surface from unstimulated group were 0.88% (patient),4.15%(mother)and 5.51%(healthy contr01).Conclusion This flow cytometric assayis accurate and convenient,which Can be used in neonatal screening.

Objective T o observe the expression changes of hypoxia inducible factor-1α (H IF-1α) and vascular endothelial grow th factor-A (V E G F-A ) in rats w ith arrhythm ias, and to explore the differences of the expression pattern in the tw o indicators of acute m yocardial ischem ia caused by arrhythm ias and coronary insufficiency. Methods T he arrhythm ia w as induced by C aC l2, and the expression changes of H IF-1α and V E G F-A w ere detected by im m unohistochem istry, W estern blotting and real-tim e PC R w ithin 6 h after the arrhythm ia in rats. Results T he expression of H IF-1α and V E G F-A show ed diffuse in the m yocardial tissue of rats died from arrhythm ias. B oth of them increased in the early arrhythm ia, then decreased. E xtensive m yocardial ischem ia happened at the beginning of arrhythm ia occurrence and its range didn't expand w ith tim e. Conclusion T he expressions of H IF-1α and V E G F-A in m yocardium of the rats w ith arrhythm ia can provide evidence for the differential diagnosis of acute m yocardial is-chem ia caused by fatal arrhythm ia and coronary insufficiency.

Objective To objectively study the current progress of China Healthcare Improvement Initiative, and its effectiveness and shortcomings for further improvement. Methods Questionnaires were customized by expert consultation and pre-investigation, and distributed by the National Health Commission in April 2018 to the hospitals.Data of 5 469 hospitals were recovered and analyzed with a statistics software for descriptive analysis.Results Implementation progress of the five working systems varied with regions, and rooms of improvement were found in such aspects as outpatient appointment, clinical pathway management and social work system.In 2017, the proportion of outpatient appointments of 5 469 hospitals averaged 19.1%.Progress of the ten major service models also varied, as defects were found in such service models as continuous medical service, intelligent service, and interconnection service.In 2017, only 6.7% of the 5 469 hospitals had put in place hierarchical integrated clinical pathways within their medical alliances.Conclusions Improvement of the medical services calls for not only the efforts of medical institutions themselves, but also top-level design by the local health authorities. In particular, an online information platform should be established for the whole region, to unify the information standards and processes, and corresponding mechanisms and system support are needed.

OBJECTIVE: To explore the clinical characteristics of a child with early-onset infantile epileptic encephalopathy type 8 associated with synonymous variant of ARHGEF9 gene. METHODS: Clinical data of the patient was summarized. The child and his parents were subjected to trio-whole exome sequencing. RESULTS: The child has presented with global developmental delay, epilepsy, impulsive behavior, hypersensitivity to sound, and mental retardation. He was found to harbor a de novo synonymous variant c.741C>T (p.Cys247Cys) of the ARHGEF9 gene. RNA splicing analysis confirmed that the variant has led to abnormal splicing of exon 5, resulting in a 55-bp deletion. CONCLUSION The clinical features of ARHGEF9 gene-related early-onset infantile epileptic encephalopathy type 8 includes mental and motor developmental delay, epilepsy, auditory allergy, and hyperactivity impulsivity. For synonymous variant, in vitro study and transcriptional experiment may be carried out to evaluate its functional and splicing effect. Above finding has enriched the phenotypic and genotypic spectrum of the ARHGEF9 gene.
Child ; Epilepsy/genetics* ; Exons ; Humans ; Infant ; Intellectual Disability/genetics* ; Male ; Rho Guanine Nucleotide Exchange Factors/genetics* ; Spasms, Infantile/genetics*

Objective:To investigate the characteristics of gut microbiota in children with sepsis and the effects of probiotic intervention.Methods:Thirty-four children with sepsis admitted to the Pediatric Intensive Care Unit of Henan Provincial People′s Hospital were enrolled in this prospective study from May 2019 to July 2020. They were randomly divided into two groups and received conventional treatment (conventional treatment group, n=17) and conventional treatment combined with probiotics (probiotics group, n=17), respectively. Twenty healthy children were selected as healthy control group. The baseline characteristics and sequential organ failure assessment (SOFA) score of all children with sepsis were recorded within 24 h after recruitment. Stool samples were collected 5-7 d after recruitment. High-throughput 16S rRNA gene sequencing was used to detect gut microbiota. Bioinformatic analysis and predictive functional profiling of microbial communities were performed to analyze the differences between groups. Results:The α-diversity and β-diversity indexes showed compared with the healthy control group, the two sepsis groups had lower abundance of gut microbiota, but greater individual differences in bacteria structure. These indexes were improved significantly following probiotic intervention ( P<0.05). At the level of phylum, the proportions of Bacteroidota and Actinobacteriota in the conventional treatment group were the lowest among the three groups, while the proportion of Proteobacteria increased significantly ( P<0.05). At the level of genus, Enterocoddus was the predominant bacterium in the conventional treatment group, while the abundance of Bifidobacterium, Faecalibacterium, Erysipelotrichaceae and Rumimococcus- torques in the probiotics group showed an upward trend ( P<0.05). Differences in the abundance of metabolic pathways, including mitochondrial synthesis, exosomes, mRNA transcription and degradation and cysteine metabolism, could be found between the two sepsis groups. Conclusions:This study revealed that children with sepsis exhibit a dysbiotic microbial community with reduced microbial diversity, declined structural stability, decreased abundance of Bacteroidota and enrichment of Proteobacteria. Probiotic supplementation could elevate the percentage of beneficial symbiotic bacteria and reduce the number of pathogenic bacteria. The differential metabolic pathways might be associated with the mechanism of probiotics in practice.

Objective:To explore the genetic etiology and clinical phenotype of Feingold syndrome due to chromosome 2p24.3p24.2 microdeletion.Methods:The clinical data of a child admitted to Henan Provincial People′s Hospital in November 2021 and diagnosed as Feingold syndrome type 1 (FGLDS1) associated with chromosome 2p24.3p24.2 microdeletion were collected. The clinical and genetic variation characteristics of the patient were summarized, and 10 patients with chromosome 2p microdeletion reported until November 2022 were reviewed.Results:The boy was 12 years and 5 months old. He presented with backward physical development, motor development retardation, low intelligence, special body and facial appearance, finger developmental deformity and other manifestations, accompanied by hyperactivity and aggressive behavior, impulsive irritability, self-injury and other behavior problems. The proband showed normal chromosome karyotype; the genome-wide copy number variant sequencing and trio-whole exome sequencing revealed a 2.61 Mb deletion at chromosome 2p24.3p24.2 region, and 10 genes including MYCN gene (exons 1 to 3) in the deleted region.The same deletion was not found in either of his parents. The genetic features of 11 cases (including this case) with chromosome 2p microdeletion were summarized, all of whom had insufficient haploid dosage of the MYCN gene due to chromosome 2p microdeletion, and the clinical manifestations of these 11 patients matched the clinical diagnosis of FGLDS1. Conclusion:The proband is consistent with the clinical presentation of the typical Feingold syndrome, and the haploinsufficiency of the MYCN gene due to the microdeletion of chromosome 2 is the genetic etiology of the proband.

Twenty general practice residents who received training in Tongren Hospital from 2018 to 2020 were enrolled. The residents undertook rotation in chronic disease care clinic of the general medicine department, and a multi-disciplinary integrated teaching mode was applied. The theoretical knowledge test, skill assessment and self-evaluation were performed before and after rotation. The 360-degree evaluation was carried out when leaving the department (study group), the results were compared with that of internal medicine (control group) in the same period. The teaching effect was comprehensively evaluated. The scores of theoretical knowledge and skill assessment after rotation were significantly higher than those before rotation ( P<0.01). The self-evaluated ability was significantly higher than that at admission, especially in general practice thinking (7.85±0.88), doctor-patient communication (7.95±0.69), health education (7.80±0.70) and disease management (8.20±0.62) ( P<0.01). The 360-degree evaluation showed that the study group was better than the control group in interpersonal communication skills [(4.75±0.44) vs. (4.41±0.50)], system-based work ability[(4.75±0.44) vs. (4.31±0.47)], practice-based learning and improvement [(4.80±0.41) vs. (4.33±0.48)], patient care [(4.75±0.44) vs. (4.28±0.46)] and training mode satisfaction [(4.85±0.37) vs. (4.38±0.49)] (all P<0.05). The study indicates that the multi-disciplinary integrated teaching mode applied for rotation in the chronic disease care clinic of the general medicine department can improve the teaching effect and raise the teaching quality for general practice residency training.

Objective:To evaluate the effect of teacher simulate standardized patient (TSSP) consultation training in pediatric practical teaching.Methods:A total of 120 interns from the five-year clinical medicine major of Batch 2015 were randomly divided into experimental group and control group. In the experimental group, 60 interns were trained by TSSP for consultation after admission. After the training, the clinical parents of the children were consulted and the children were physically examined under the guidance of teachers. In the control group, 60 interns were trained according to the same requirements, but TSSP consultation training was not included. At the end of the practice, the performance, operation skills and medical record writing ability of the interns were compared, and the satisfaction of the experimental group was investigated. SPSS 25.0 software was used for t test and chi-square test. Results:The medical record writing results of the experimental group were (96.15±3.00) points, significantly higher than that of the control group [(81.02±3.29) points], and the differences were statistically significant ( t = 26.38; P < 0.001). In the mini-clinical evaluation exercise (Mini-CEX), the scores of medical history collection, communication skills, humanistic care and physical examination were significantly higher than those of the control group ( t= 15.41, 17.67, 15.39 respectively; all P < 0.001). The experimental group had high satisfaction with the teaching method of TSSP consultation training. Conclusion:TSSP consultation training improves the intern medical record writing ability, doctor-patient communication ability, clinical operation ability, stimulates the learning interest of interns, trains the trainee doctors humanistic consciousness, integrates into the ideological and political education, effectively ensures the quality of practical teaching of pediatrics, and obtains recognition from intern, which is worth promoting.

Objective To evaluate the effect of conversion from mycophenolic acid (MPA) to mizoribine (MZR) in renal transplant recipients with gastrointestinal tract (GI) symptoms.Methods A total of 355 renal transplant recipients with GI symptoms caused by MPA administration were enrolled from April 2015 to March 2017 in 25 different renal transplant centers in China.The symptomatic improvement of GI before (baseline) and after conversion to MZR (1,2,4 weeks) was assessed by each item of GI symptoms indication.In addition,the efficacy and safety of the conversion therapy during 12 months were determined.Results Patients showed improvement in GI symptoms including diarrhea,abdominal pain,abdominal distention and stomachache after conversion to MZR 1,2,4 weeks (P＜0.05).In patients with different severity of diarrhea,conversion to MZR therapy significantly improved diarrhea (P＜0.05).During 12 months,no patient experienced clinical immune rejection.We did not observe any infections,leucopenia and other serious side effects.Conclusion MZR could markedly improve GI symptoms caused by MPA administration in renal transplant recipients.

OBJECTIVE:To explore losses and gains (L&G) and L&G ratio induced by Essential Medicine System in a county. METHODS:By choosing a county in western China as sample area,field investigation was used to collect outpatient and inpatient visits,outpatient and inpatient income,drug income,total length of stay and medical insurance reimbursement criteria in primary medical institutions (township health centers,village health rooms) of the county during 2009-2015. By setting the year 2009 as the baseline year,the drug cost reimbursed by medical insurance was simulated and calculated when Essential Medicine System were not implemented;L&G and L&G ratio of medical insurance were calculated by comparing with actual drug cost reimbursed by medical insurance. RESULTS:The year 2012,in which the sample county fully implemented the Essential Medicine System was the turning year. Medical insurance funds lost in primary medical institutions of the county during 2010-2011(lost 437000,915000 yuan,respectively),but gained during 2012 to 2015(gained 199000,494000,858000,1290000 yuan, respectively);the L&G ratio increased from -0.67％ to 1.21％. For reimbursed outpatient drug cost and inpatient cost,L&G of medical insurance were different. For reimbursed drug cost of village health room and township health center,L&G of medical insurance were also different. CONCLUSIONS:The implementation of Essential Medicine System benefits to medical insurance within the county and Medical insurance funds can be saved.