Objective:To analyze the phenotype and genotype of congenital myasthenic syndrome type 10 (CMS10) caused by DOK7 gene mutation, and to conduct a literature review and summary of this disease. Methods:A retrospective analysis of the clinical characteristics and genetic test results of a patient with CMS10 in Affiliated Nanjing Brain Hospital, Nanjing Medical University in January 2020 was conducted. Whole exon sequencing was applied to high-throughput screen the pathogenic gene in this patient. After finding candidate variants, pathogenic classification was done according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guideline. Sanger sequencing was applied to verify the mutation. Then all patients with DOK7 gene mutations were summarized by searching the literatures through PubMed, CNKI and Wanfang database. Results:The patient was a 51-year-old man who clinically presented with fluctuating quadriparesis and respiratory distress. He was diagnosed as CMS10 with compound mutations in DOK7 (c.1296_1311del16/c.332-1G>A) by clinical information and whole exon and Sanger sequencing. And c.332-1G>A was found to be a novel mutation. Literature review showed that patients with CMS10 with DOK7 gene mutations presented dominant weakness in proximal limbs and axial muscles. Patients with CMS10 would show periodic exacerbation in disease duration with slow progression. Among 71 mutations, frameshift mutation was the most frequent type (38.0%, 27/71), followed by missense mutation (32.4%, 23/71). Exon 7 (35.2%, 25/71) and exon 4 (26.8%, 19/71) were the hotspot regions. c.1124_1127dupTGCC was the most frequent mutation (43.2%, 140/324). The age of onset in patients with homozygous c.1124_1127dupTGCC was older than that in patients with compound heterozygous c.1124_1127dupTGCC [7.5(3.6, 19.8) years vs 1.3(0, 3.8) years, U=350.000, P<0.001]. Conclusions:CMS10 is a slowly progressive autosomal recessive genetic disease characterized by fluctuating muscle weakness, with muscle weakness distribution similar to limb-girdle muscular dystrophy. Frameshift mutation is the most common type in DOK7 gene associated CMS10. c.1124_1127dupTGCC in C-terminal is the most frequent mutation. Early identification of DOK7 gene associated CMS10 is crucial for the treatment and prognosis of this disease.

Background::The APPEC study is a large-population randomized controlled trial in China evaluating the role of low-dose aspirin prophylactic treatment for pre-eclampsia. There was no statistically significant difference in postpartum hemorrhage (PPH) incidence between the aspirin and control groups. This study aimed to evaluate the potential bleeding risk of 100 mg aspirin in high-risk pregnant women and the difference in the incidence of PPH according to maternal characteristics.Methods::This is a secondary data analysis of the APPEC study. Platelet counts and coagulation test results were collected at five follow-up visits. Subgroups defined by maternal age (<35 years and ≥35 years), pre-pregnancy body mass index (pre-BMI, <28 kg/m 2 and ≥28 kg/m 2), parity, gestational age at enrollment, and medical history, including pre-eclampsia, chronic hypertension, and diabetes mellitus, were analyzed. Logistic regression analysis was used to determine the statistical significance of the difference in the incidence of PPH after aspirin administration in pregnant women in each subgroup. Adjustment using multiple logistic regression models followed these analyses. Binary logistic regression was used to determine the relationship between pre-BMI and PPH. Results::There was no significant difference between the aspirin and control groups in bleeding risk (3.4% [16/464] vs. 3.0% [13/434], T = 0.147, P = 0.701). No significant difference was found in the incidence of PPH in total (relative risk = 1.220, 95% confidence interval [CI] = 0.720–2.067, P = 0.459; aspirin group vs. control group, 6.5% [30/464] vs. 5.3% [23/434], P = 0.459) or in subgroup analysis. A significant correlation between pre-BMI and PPH was found in the aspirin group, while in the control group there was no significant correlation (aspirin group, odds ratio [OR] = 1.086, 95% CI = 1.004–1.175, P = 0.040; control group, OR= 1.060, 95% CI = 0.968–1.161, P = 0.209). Conclusions::A dosage of 100 mg of aspirin per day, initiated from 12 to 20 gestational weeks until 34 weeks of gestation, did not increase the risk of potential bleeding and PPH regardless of the maternal characteristic. In the aspirin group, the positive correlation between BMI and PPH was significant.Trial Registration::ClinicalTrials.gov, NCT01979627.

Objective:To compare and analyze the efficacy and safety of intraoperative radiotherapy (IORT) combined with conventional therapy (surgery combined with radiochemotherapy) and conventional therapy alone for pancreatic cancer.Methods:Literature review was conducted from PubMed, Cochrane Library, Web of Science, Embase, Chongqing VIP, CNKI, Wanfang Data and China Biomedical Literature Service System (SinoMed). The literatures that met the inclusion criteria were screened and the data were extracted. Meta-analysis was carried out by RevMan 5.4 software.Results:A total of 11 studies consisting of 813 patients were included. According to the combined results, compared with conventional therapy, IORT combined with conventional therapy could improve the overall survival rate of pancreatic cancer ( HR=0.66, 95% CI=0.54-0.81, Z=4.03, P<0.001), and did not increase the treatment-related side effects ( OR=1.00, 95% CI=0.69-1.46, Z=0.01, P=0.99), but failed to bring benefit to the local control rate ( HR=0.56, 95% CI=0.31-1.01, Z=1.93, P=0.05). Conclusions:The overall survival rate in the IORT combined with conventional therapy group is significantly better than that in the conventional therapy group. No significant difference is found in the treatment-related adverse reactions between two groups. IORT combined with conventional therapy is worthy of clinical application.

【Objective】 To analyze the hepatitis B virus (HBV) infection data of blood donors from 18 domestic blood stations, so as to investigate the HBV infection situation of blood donors. 【Methods】 The positive rate of HBV and its distribution characteristics of regions, the percentage of HBsAg+ ELISA in first-time vs repeated blood donors, and the percentage of HBsAg-/HBV DNA+ blood donors of 18 domestic blood stations during 2017 to 2020 were collected from the Working Platform for Practice Comparison of Blood Centers, and the HBV infection among blood donors were statistically analyzed. 【Results】 From 2017 to 2020, the positive rate of HBV in blood donors among 18 domestic blood stations was 13.48/10 000-144.02/10 000, with the average HBV positive rate in eastern, central and western region at 26.14/10 000, 51.98/10 000 and 41.00/10 000, respectively. The HBsAg+ rate by ELISA among first-time and repeated blood donors was 14.55/10 000-305.39/10 000 vs 1.04/10 000-87.43/10 000 The HBsAg-/HBV DNA+ yield was 1.80/10 000-35.31/10 000. 【Conclusion】 The distribution of HBV infection in blood donors has regional characteristics, and HBV prevalence was low in repeated blood donors. HBsAg ELISA combined with HBV DNA detection can better ensure blood safety.

Perineal tear is a common complication of vaginal delivery and will seriously affect the quality of life of these women, if is severe. Given to there was no evidence-based clinical guideline for the prevention and management of perineal tear in China, this evidence-based guideline was developed, based on the methods of WHO handbook for guideline development. Systematic reviews were conducted according to the Cochrane handbook and GRADE was used to assess the quality and certainty of the evidence. Detailed recommendations are provided for 19 clinical questions in the prevention and management of perineal laceration, aiming to guide clinical practice and improve the quality of life of this group of women.

Objective:To analyze the molecular epidemiological characteristics of the Corona virus disease 2019 (COVID-19) cases in Shijiazhuang, which can reveal the origin of the outbreak and provide a scientific basis for COVID-19 prevention and control.Methods:From January 2 to January 8, 2021, a total of 404 samples from 170 COVID-19 cases were collected from the Shijiazhuang Fifth Hospital. The consensus sequence of 2019 novel Coronavirus(2019-nCoV) was obtained through multiplex polymerase chain reaction-based sequencing. The sequences of 170 COVID-19 cases were analyzed by the PANGOLIN, and the data were statistically analyzed by T-test.Results:Among the 404 COVID-19 samples, a total of 356 samples obtained high quality genome sequences (>95%,100×sequencing depth). The whole genome sequences of 170 COVID-19 cases were obtained by eliminating repeated samples. All 170 sequences were recognized as lineage B1.1 using PANGOLIN. The number of single nucleotide polymorphism arrange from 18-22 and most of the single nucleotide polymorphism were synonymous variants. All of 170 genomes could be classified into 48 sub-groups and most of the genomes were classified into 2 sub-groups (66 and 31, respectively).Conclusions:All cases in this study are likely originated from one imported case. The viruses have spread in the community for a long time and have mutated during the community transmission.

Nucleic acids in plant tissue lysates can be captured quickly by a cellulose filter paper and prepared for amplification after a quick purification. In this study, a published filter paper strip method was modified by sticking the filter paper on a polyvinyl chloride resin (PVC) sheet. This modified method is named EZ-D, for EASY DNA extraction. Compared with the original cetyl trimethylammonium bromide (CTAB) method, DNA extracted by EZ-D is more efficient in polymerase chain reaction (PCR) amplification due to the more stable performance of the EZ-D stick. The EZ-D method is also faster, easier, and cheaper. PCR analyses showed that DNA extracted from several types of plant tissues by EZ-D was appropriate for specific identification of biological samples. A regular PCR reaction can detect the EZ-D-extracted DNA template at concentration as low as 0.1 ng/μL. Evaluation of the EZ-D showed that DNA extracts could be successfully amplified by PCR reaction for DNA fragments up to 3000 bp in length and up to 80% in GC content. EZ-D was successfully used for DNA extraction from a variety of plant species and plant tissues. Moreover, when EZ-D was combined with the loop-mediated isothermal amplification (LAMP) method, DNA identification of biological samples could be achieved without the need for specialized equipment. As an optimized DNA purification method, EZ-D shows great advantages in application and can be used widely in laboratories where equipment is limited and rapid results are required.

A patient was pregnant four months after the percutaneous coronary intervention, and the ultrasound indicated a complete placenta previa and a placenta percreta. Concerned about radiation and drugs exposure on the fetus, the patient chose to terminate the pregnancy. After multidisciplinary consultation, tirofiban was used for antithrombotic therapy in substitution for dual antiplatelet drugs, and an abdominal aortic balloon was inserted preoperatively. The placenta that penetrated the serous membrane and uterine wall at laparotomy was resected, and the uterus was reconstructed. Prophylactic antibiotics, anticoagulation, and transitional antiplatelet therapy with tirofiban were given after the operation. The patient was discharged on day six postoperatively.

Objective:To investigate the application and effect of personalized teaching mode based on Xuexitong learning platform in physiology.Methods:Four parallel classes from the nursing specialty were randomized into two groups, of which the class 1 and class 2 were taken as the experimental group, and the class 3 and class 4 were taken as the control group, with 102 students in both groups. The students number of these two groups is both 102. The experimental group adopted the personalized teaching mode based on Xuexitong learning platform, with the features of preparation before the class, the teaching in class and testing after class; while the control group adopted the traditional teaching mode. The final results of students from the two groups were compared, and questionnaires were send out. The data were processed by SPSS 22.0 software and analyzed by rank-sum test.Results:The final scores of the students from the experimental group were better than those of the control group ( P<0.001). The experimental group was significantly better than the control group in improvement of self-learning, teamwork, personality development and medical literacy ( P<0.05). And there was no significant difference in the recognition of language expression ability between the two groups ( P>0.05). Conclusion:The personalized teaching based on Xuexitong learning platform can play an important role in developing the personalities of students and improving the educational effect of teaching students in accordance with their aptitude, which has a popularization significance in the teaching of physiology.

Objective:To investigate the application and effect of personalized teaching mode based on Xuexitong learning platform in physiology.Methods:Four parallel classes from the nursing specialty were randomized into two groups, of which the class 1 and class 2 were taken as the experimental group, and the class 3 and class 4 were taken as the control group, with 102 students in both groups. The students number of these two groups is both 102. The experimental group adopted the personalized teaching mode based on Xuexitong learning platform, with the features of preparation before the class, the teaching in class and testing after class; while the control group adopted the traditional teaching mode. The final results of students from the two groups were compared, and questionnaires were send out. The data were processed by SPSS 22.0 software and analyzed by Rank-Sum test, so as to understand the students' evaluation of individualized teaching effect.Results:The final scores of the students from the experimental group were better than those of the control group ( P<0.001). The experimental group was significantly better than the control group in improvement of self-learning, teamwork, personality development and medical literacy ( P<0.05). And there was no significant difference in the recognition of language expression ability between the two groups ( P>0.05). Conclusion:The personalized teaching based on Xuexitong learning platform can play an important role in developing the personalities of students and improving the educational effect of teaching students in accordance with their aptitude, which has a popularization significance in the teaching of physiology.