Objective:To investigate the clinical and genetic characteristics of KDM6B gene variation associated neurological developmental disorder in a child. Methods:Clinical data were collected from a child of KDM6B gene variation associated neurological developmental disorder admitted to Children′s Hospital Affiliated to Zhengzhou University in July 2021. His clinical manifestations and genetic variation profiles were retrospectively analyzed and literature review was conducted. Results:The patient was a one-year-six-month old male, with protruding forehead, joint laxity, distal skeletal abnormalities, and behavioral, cognitive, language, intellectual, and psychomotor development disorder. The whole-exome sequencing and Sanger sequencing confirmed that there was a de novo heterozygous frameshift variation c.1718delC(p.Pro573Hisfs *9) in exon 11 of the KDM6B gene. This variation was classified as pathogenic (PVS1+PS2+PM2_supporting) according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines, with no prior reports. By literature review, no relevant Chinese literature was retrieved, whereas 4 English literatures were found, reporting 98 patients, totally 99 patients (including this case) with nervous system development disorder due to KDM6B gene variation. The main manifestations were neurodevelopmental disorders such as speech, motor, and behavioral abnormalities, mental retardation, as well as facial deformities, hypotonia, infantile feeding difficulties/gastroesophageal reflux, joint/ligament laxity, and abnormalities of the hands and toes/palms. A total of 83 variation sites were found, including 37 frameshift variations, 18 missense variations, 21 nonsense variations, and 7 splicing variations, all of which were heterozygous variations. Conclusions:The KDM6B gene variation can lead to neurodevelopmental disorder, craniofacial developmental and skeletal abnormalities. The de novo heterozygous variation in the KDM6B gene is considered to be the genetic etiology of this child. This study extends the spectrum of KDM6B gene variant.

Objective:To investigate the clinical and genetic characteristics of KDM6B gene variation associated neurological developmental disorder in a child. Methods:Clinical data were collected from a child of KDM6B gene variation associated neurological developmental disorder admitted to Children′s Hospital Affiliated to Zhengzhou University in July 2021. His clinical manifestations and genetic variation profiles were retrospectively analyzed and literature review was conducted. Results:The patient was a one-year-six-month old male, with protruding forehead, joint laxity, distal skeletal abnormalities, and behavioral, cognitive, language, intellectual, and psychomotor development disorder. The whole-exome sequencing and Sanger sequencing confirmed that there was a de novo heterozygous frameshift variation c.1718delC(p.Pro573Hisfs *9) in exon 11 of the KDM6B gene. This variation was classified as pathogenic (PVS1+PS2+PM2_supporting) according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines, with no prior reports. By literature review, no relevant Chinese literature was retrieved, whereas 4 English literatures were found, reporting 98 patients, totally 99 patients (including this case) with nervous system development disorder due to KDM6B gene variation. The main manifestations were neurodevelopmental disorders such as speech, motor, and behavioral abnormalities, mental retardation, as well as facial deformities, hypotonia, infantile feeding difficulties/gastroesophageal reflux, joint/ligament laxity, and abnormalities of the hands and toes/palms. A total of 83 variation sites were found, including 37 frameshift variations, 18 missense variations, 21 nonsense variations, and 7 splicing variations, all of which were heterozygous variations. Conclusions:The KDM6B gene variation can lead to neurodevelopmental disorder, craniofacial developmental and skeletal abnormalities. The de novo heterozygous variation in the KDM6B gene is considered to be the genetic etiology of this child. This study extends the spectrum of KDM6B gene variant.

Objective To explore the construction and practice of an intelligent prevention and treatment system for venous thromboembolism (VTE) in grassroots hospitals. Methods Based on relevant guidelines and expert consensuses on VTE prevention and treatment, domestic and foreign literature was reviewed. A research and development team composed of clinical experts in VTE prevention and treatment, medical and nursing quality management experts, and information engineers conducted investigations and research in surrounding grassroots hospitals. Through evidence-based research and surveys, the team identified relevant business needs, user needs, and functional requirements of grassroots hospitals, and finally formulated a detailed design plan. The main program of system was written in Java. The interface obtained data from the hospital's data platform through Webservice and view interfaces. To prevent issues of repeated data extraction when multiple applications perform time tasks to assess the same patient during later server usage and expansion, the XXL-JOB distributed task scheduling platform was adopted to handle VTE assessments by medical staff. Results After the clinical application of the intelligent VTE prevention and treatment system, the bleeding risk assessment rate increased from 26.20% at the initial system launch in January 2023 to 83.04% by the end of 2023. In January 2023, the implementation rates of mechanical prevention, pharmacological prevention, and combined prevention for medium-to-high-risk VTE patients were 21.39%, 16.39%, and 5.26%, respectively, which increased to 51.75%, 25.50%, and 25.65% in December 2023. Conclusion The VTE prevention and treatment software system developed by grassroots hospitals can improve development efficiency, enhance the clinical practicality of the system, reduce the workload of medical staff, promote standardization and normalization in VTE prevention and treatment, strengthen closed-loop management of medical quality for VTE as a single disease, and effectively improve the prevention and treatment capabilities and levels of VTE within hospitals.

Objective:To investigate the efficacy and safety of plasma exchange(PE) in the treatment of autoimmune hemolytic anemia in children.Methods:The data from 8 hospitals in China during November 2014 to April 2017 were collected, and the clinical characteristics of PE in children with AHA were analyzed retrospectively.Results:A total of 21 children with AHA were included in the study, including 17 cases from PICU and 4 cases from pediatric kidney ward, with 11 boys and 10 girls, and the median age was 3.64(0.25, 11.10)years old, and median hospital stay was 12(4, 45)days.There were 15 cases(71.4%) with infection, 2 cases(9.5%)with autoimmune diseases, 4 cases(19.0%) with unknown.Consciousness disturbance occurred in 4 patients before replacement and recovered to normal after PE.The volume of blood decreased in two cases(9.5%) and completely relieved.There were 20 cases of anemia (95.2%), 15 cases were normal after PE, and 5 cases were improved.Jaundice occurred in 18 cases (85.7%), 12 cases were normal after PE, 6 cases were improved.Hepatosplenomegaly was found in 11 cases, 10 cases were normal after PE, 1 case was improved.After PE, the hemoglobin and red blood cell count increased, while the total bilirubin, indirect bilirubin, urea nitrogen and lactate dehydrogenase decreased, there were significant differences between pre-and post-replacement ( P<0.05). Only 1 case had allergic reaction, which was improved after symptomatic treatment, and PE was continued.After PE, 2 cases (9.5%) had complete remission, 16 cases (76.2%) had partial remission and 3 cases (14.3%) had been discharged. Conclusion:PE therapy can obviously improve the clinical symptoms and laboratory indexes of children with AHA who have failed to respond to conservative treatment.It can be used as a treatment measure for children with severe AHA and has a good safety.

Objective:To explore the clinical outcome of blastocysts with different developmental time and grades of preimplantation genetic testing for aneuploidies (PGT-A) embryo transfer cycles, and to compare and analyze their transcriptome characteristics.Methods:The clinical data of patients with euploid blastocyst transplantation selected by PGT-A in Center for Reproductive Medicine of Women Health Center of Shanxi from January 2017 to December 2021 were retrospectively analyzed. A total of 295 transplantation cycles were divided into groups according to the day of embryo blastulation [day 5 (D5) group and day 6 (D6) group] and blastocyst grade (good-quality group and fair-quality group) and their clinical outcomes were compared. By comparing the single-cell RNA sequencing (scRNA-seq) data of blastocysts of different developmental time and grades from GEO and ENA data platforms, the transcriptome level differences among different groups were analyzed.Results:1) There were no significant differences in age of male and female, type of infertility, infertility duration, body mass index (BMI), follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol and number of oocytes retrieved between D5 and D6 groups (all P>0.05). The M Ⅱ oocyte rate [86.35% (2051/2375) vs. 82.71% (1770/2140), P=0.001], blastocyst formation rate [68.08% (725/1065) vs. 62.14% (540/869), P=0.006], implantation rate [72.78% (115/158) vs. 52.55% (72/137), P<0.001], clinical pregnancy rate [56.33% (89/158) vs. 43.80% (60/137), P=0.032] and live birth rate [53.80% (85/158) vs. 40.87% (56/137), P=0.027] in D5 group were significantly higher than those in D6 group, and the results of miscarriage rate, preterm birth rate, proportion of male and birth weight between the two groups were not statistically significant. 2) There were no significant differences in age of male and female, type of infertility, infertility duration, BMI, FSH, LH, estradiol and number of oocytes retrieved between good-quality and fair-quality groups (all P>0.05). The M Ⅱ oocyte rate [87.06% (1251/1437) vs. 83.50% (2570/3078), P=0.002], blastocyst formation rate [73.38% (499/680) vs. 61.08% (766/1254), P<0.001], implantation rate [77.90% (74/95) vs. 56.50% (113/200), P<0.001], clinical pregnancy rate [61.05% (58/95) vs. 45.50% (91/200), P=0.013] and live birth rate [56.84% (54/95) vs. 43.50% (87/200), P=0.032] in good-quality group were significantly higher than those in fair-quality group, and the results of miscarriage rate, preterm birth rate, proportion of male and birth weight between the two groups were not statistically significant. 3) Based on the scRNA-seq data from GEO and ENA data platforms, we mined differentially expressed genes (DEGs) in the inner cell mass (ICM) and trophectoderm (TE) of D5 and D6 blastocysts, good-quality blastocysts and fair-quality blastocysts. Compared with D6 group, KEGG enrichment analysis showed that DEGs up-regulated of ICM/TE in D5 group were significantly enriched in 285/288 signaling pathways. DEGs up-regulated of ICM/TE were significantly enriched in 207/3 signaling pathways in the good-quality group compared with the fair-quality group. Conclusion:In terms of implantation and clinical pregnancy ability, D5 blastocysts were better than D6 blastocysts, and good-quality blastocysts were better than fair-quality blastocysts. Transcriptome level analysis of blastocysts with different developmental time and grades showed significant differences in transcriptome characteristics. The analysis of blastocyst transcriptome level has predictive value for blastocyst implantation and clinical pregnancy ability.

Objective:To explore the clinical outcome of blastocysts with different developmental time and grades of preimplantation genetic testing for aneuploidies (PGT-A) embryo transfer cycles, and to compare and analyze their transcriptome characteristics.Methods:The clinical data of patients with euploid blastocyst transplantation selected by PGT-A in Center for Reproductive Medicine of Women Health Center of Shanxi from January 2017 to December 2021 were retrospectively analyzed. A total of 295 transplantation cycles were divided into groups according to the day of embryo blastulation [day 5 (D5) group and day 6 (D6) group] and blastocyst grade (good-quality group and fair-quality group) and their clinical outcomes were compared. By comparing the single-cell RNA sequencing (scRNA-seq) data of blastocysts of different developmental time and grades from GEO and ENA data platforms, the transcriptome level differences among different groups were analyzed.Results:1) There were no significant differences in age of male and female, type of infertility, infertility duration, body mass index (BMI), follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol and number of oocytes retrieved between D5 and D6 groups (all P>0.05). The M Ⅱ oocyte rate [86.35% (2051/2375) vs. 82.71% (1770/2140), P=0.001], blastocyst formation rate [68.08% (725/1065) vs. 62.14% (540/869), P=0.006], implantation rate [72.78% (115/158) vs. 52.55% (72/137), P<0.001], clinical pregnancy rate [56.33% (89/158) vs. 43.80% (60/137), P=0.032] and live birth rate [53.80% (85/158) vs. 40.87% (56/137), P=0.027] in D5 group were significantly higher than those in D6 group, and the results of miscarriage rate, preterm birth rate, proportion of male and birth weight between the two groups were not statistically significant. 2) There were no significant differences in age of male and female, type of infertility, infertility duration, BMI, FSH, LH, estradiol and number of oocytes retrieved between good-quality and fair-quality groups (all P>0.05). The M Ⅱ oocyte rate [87.06% (1251/1437) vs. 83.50% (2570/3078), P=0.002], blastocyst formation rate [73.38% (499/680) vs. 61.08% (766/1254), P<0.001], implantation rate [77.90% (74/95) vs. 56.50% (113/200), P<0.001], clinical pregnancy rate [61.05% (58/95) vs. 45.50% (91/200), P=0.013] and live birth rate [56.84% (54/95) vs. 43.50% (87/200), P=0.032] in good-quality group were significantly higher than those in fair-quality group, and the results of miscarriage rate, preterm birth rate, proportion of male and birth weight between the two groups were not statistically significant. 3) Based on the scRNA-seq data from GEO and ENA data platforms, we mined differentially expressed genes (DEGs) in the inner cell mass (ICM) and trophectoderm (TE) of D5 and D6 blastocysts, good-quality blastocysts and fair-quality blastocysts. Compared with D6 group, KEGG enrichment analysis showed that DEGs up-regulated of ICM/TE in D5 group were significantly enriched in 285/288 signaling pathways. DEGs up-regulated of ICM/TE were significantly enriched in 207/3 signaling pathways in the good-quality group compared with the fair-quality group. Conclusion:In terms of implantation and clinical pregnancy ability, D5 blastocysts were better than D6 blastocysts, and good-quality blastocysts were better than fair-quality blastocysts. Transcriptome level analysis of blastocysts with different developmental time and grades showed significant differences in transcriptome characteristics. The analysis of blastocyst transcriptome level has predictive value for blastocyst implantation and clinical pregnancy ability.

Objective:To explore the performance of the commonly used whole blood C-reactive protein (CRP) detection systems and give related recommendation on the performance requirements of detection systems.Methods:A total of 7 540 venous blood samples from 26 maternal, child and children′s hospitals were collected to conduct this multi-center study on the analytical performance of 5 commonly used whole blood CRP detection systems from March to April in 2019. The blank check, carryover, repeatability, intermediate precision, linearity, sample stability, influence of hematocrit/triglyceride/bilirubin, comparison with SIEMENS specific protein analyzer and trueness were evaluated. The 5 systems included BC-5390CRP autohematology analyzer, AstepPLUS specific protein analyzer, Ottoman-1000 Automated Specific Protein POCT Workstation, i-CHROMA Immunofluorometer equipment Reader and Orion QuikRead go detecting instrument. The 5 systems were labeled as a, b, c, d and e randomly.Results:Within the 5 systems, all values of blank check were less than 1.00 mg/L, the carryovers were lower than 1.00%. The repeatability of different ranges of CRP concentrations including 3.00-10.00, 10.00-30.00 and>30.00 mg/L were less than 10.00%, 6.00% and 5.00%, respectively, and the intermediate precision was less than 10.00%. The linearity correlation coefficients of the 5 systems were all above 0.975, while the slope was within 0.950-1.050. Whole blood samples were stable within 72 hours both at room temperature (18-25 ℃) and refrigerated temperature (2-8 ℃). The CRP results were rarely influenced by high triglyceride or bilirubin, except for the immmunoturbidimetric test based on microparticles coated with anti-human CRP F(ab) 2 fragments. When triglyceride was less than 15.46 mmol/L, the deviation of CRP was less than 10.00%. When bilirubin was less than 345.47 μmol/L, the deviation of CRP was less than 10.00%. CRP was more susceptible to Hct on the systems without Hct correction. The deviation of CRP between different Hct dilution concentration and 40% dilution concentration can reach as high as 67.48%. The correlation coefficients ( r) of 5 systems were all more than 0.975 in the range of 0-300.00 mg/L compared with Siemens specific protein analyzer. All systems passed the trueness verification using the samples with specified values of 12.89 and 30.60 mg/L. Conclusion:The performance of 5 systems can basically meet the clinical needs, but it is suggested that the whole blood CRP detection system without automatic Hct correction should be modified manually.

Objective To evaluate the effect of acupuncture combined nerve block for surgery using meta-analysis.Methods We searched the data of randomized controlled trial (RCT) in Pubmed,Cochrane library,Embase,CNKI,VIP and Wanfang from the construction of database to May 2017.All RCTs that met the standards of acupuncture combined nerve block for patients undergoing surgery were collected.The meta-analysis was performed by Review Manager 5.3.Results Five trials containing 382 patients were included in this meta-analysis.Compared with nerve block alone,the pooled data showed that acupuncture combined nerve block reduced the fluctuation of intraoperative blood pressure (MD=-13.62,95％CI-15.41--11.84,P＜0.001) and heart rate (MD=-6.49,95％CI-8.61--2.36,P＜0.001),and VAS scores 8 h (MD=-1.07,95％CI -1.38--0.75,P＜0.001),12 h (MD=-1.11,95％CI-1.30--0.93,P＜0.001) and 24 h (MD=-0.15,95％ CI-0.25--0.04,P =0.006) after operation in the experimental group.Conclusion Acupuncture combined nerve block possibly improves the hemodynamic parameters and postoperative pain of patients undergoing surgery.

BACKGROUND AND OBJECTIVES: The overall purpose of this study was to investigate the role of cytochrome C oxidase (CcO) in preventing ischemia reperfusion-induced cardiac injury through gaseous signaling molecule pathways. MATERIALS AND METHODS: We used CcO inhibitor, potassium cyanide (KCN) to mimic the pre-treatment of gaseous signaling molecules in a global ischemia/reperfusion (IR) injury model in rats. Intracellular reactive oxygen species (ROS) was determined by measuring mitochondrial H2O2 and mitochondrial complex activity. RESULTS: KCN pre-treatment led to decreased infarction area after IR injury and improved cardiac function. KCN pre-treated group challenged with IR injury was associated with reduced ROS production through inhibition of activity and not downregulation of CcO expression. In addition, KCN pre-treatment was associated with enhanced expression and activity of mitochondrial antioxidase, suggesting the role of CcO in regulating IR injury through oxidative stress. CONCLUSION: KCN pre-treatment reduced the severity of IR injury. The potential mechanism could be increased endogenous anti-oxidase activity and consequently, the enhanced clearance of ROS.
Animals ; Cytochromes c* ; Cytochromes* ; Down-Regulation ; Electron Transport Complex IV* ; Infarction ; Ischemia* ; Mitochondria ; Myocardial Infarction ; Oxidative Stress ; Potassium Cyanide ; Rats ; Reactive Oxygen Species ; Reperfusion Injury*