Objective:To study the application value of WeChat video teaching mode in clinical teaching of digestive endoscopy nurses.Methods:The study selected 126 nursing trainees taking an internship in the Department of Gastroenterology in our hospital from January 2018 to June 2020 as the teaching objects, and they were randomized into two groups, Control Group and Experimental group, with 63 cases in each group. The control group adopted traditional teaching and the experimental group took traditional teaching combined with WeChat video teaching. The internship time of both groups was 4 weeks. The scores of comprehensive ability assessment after practice were compared between the two groups, and the critical thinking ability scale and nursing students' clinical practice satisfaction scale were used to evaluate the critical thinking ability and satisfaction of practice nurses of the two groups before and after teaching. SPSS 19.0 was used for statistical analysis of the research data. Continuous variables were expressed as (mean ± standard deviation), t test was performed, categorical variables were expressed as percentage, four-grid test was conducted, and the test level was α=0.05. Results:The scores of comprehensive ability, theoretical knowledge and operation skills of the experimental group were significantly higher than those of the control group ( P<0.05). After teaching, the scores of seeking truth, opening mind, systematization ability, analytical ability, curiosity, cognitive maturity and total scale score of the two groups were significantly higher than those before teaching ( P<0.05), and there was no significant difference in the score of thinking self-confidence before and after the teaching ( P>0.05). The scores of seeking truth, opening mind, systematization ability, analytical ability, curiosity, cognitive maturity and total scale score of the experimental group were significantly higher than those of the control group ( P<0.05), and there was no significant difference in the score of thinking self-confidence between the two groups ( P>0.05). The experimental group's practice management, practice environment, teaching content, practice effect score and total scale score were significantly higher than those of the control group ( P<0.05), and compared with the control group, the score of teaching quality was poorer, without significant differences ( P>0.05). Conclusion:The application of WeChat video teaching mode in clinical teaching of digestive endoscopy nurses can improve the performance and satisfaction of comprehensive ability assessment of practice nurses, and enhance their ability of critical thinking.

Objective To analyze the frequency of NPM1 mutation in de novo acute myeloid leukemia (AML) patients and the relationship between NPM1 mutation and chromosome alterations,as well as FAB subgroups,and to analyze the mutation type.MethodsA total of 99 de novo AML patients from 2004 to 2010 in China-Japan Friendship Hospital were studied.Genomic DNA was amplified by polymerase chain reaction (PCR),denaturing polyacrylamide gel electrophoresis (PAGE) and capillary electrophoresis were used to detect the mutation of NPM1 gene in 99 AML patients,and karyotyping was performed in 72 AML patients by G banding techniques.DNA sequences analysis of NPM1 mutation was performed on 10 patients.Chi-square test was used to compare the frequencies of NPM1 mutation among the different subgroups,and McNemar's test was used to compare the different rates between denaturing PAGE and capillary electrophoresis.ResultsThe frequencies of NPM1 mutations were detected in 15％ (15/99) of AML patients with capillary electrophoresis and 11％ (11/99 ) with denaturing PAGE(x2 =2.25,P ＞0.05 ).The NPM1 was at different rates in M2(27％,8/30),M5(32％,6/19),M6( 13％,1/8),respectively (x2 =1.06,P ＞ 0.05 ),and not detected in the other subgroups.NPM1 mutation in patients with normal karyotype(26％ ) was more prevalent than patients with abnormal karyotype (4％) (x2 =5.61,P ＜ 0.05)All of the 10 patients were of A type ( c.860_863dupTCTG).The C-terminal portion of the NPM protein by replacing the last seven amino acids(WQWRKSL) with 11 residues (CLAVEEVSLRK).Two intronic deletions were novel,one case was IVS10-18_-15delCTTT,the other was IVS10-17_-15delTTT.Conclusions NPM1 mutations represents a common genetic abnormality in AML patients,and NPM1 mutation in patients with normal karyotype is higher than patients with abnormal karyotype.Two new intronic deletion mutations are identified.

OBJECTIVE: To explore the genetic basis of two fetuses with an osteogenesis imperfecta (OI) phenotype. METHODS: Two fetuses diagnosed at the Affiliated Hospital of Weifang Medical College respectively on June 11, 2021 and October 16, 2021 were selected as the study subjects. Clinical data of the fetuses were collected. Amniotic fluid samples of the fetuses and peripheral blood samples of their pedigree members were collected for the extraction of genomic DNA. Whole exome sequencing (WES) and Sanger sequencing were carried out to identify the candidate variants. Minigene splicing reporter analysis was used to validate the variant which may affect the pre-mRNA splicing. RESULTS: For fetus 1, ultrasonography at 17+6 weeks of gestation had revealed shortening of bilateral humerus and femurs by more than two weeks, in addition with multiple fractures and angular deformities of long bones. WES revealed that fetus 1 had harbored a heterozygous c.3949_3950insGGCATGT (p.N1317Rfs*114) variant in exon 49 of the COL1A1 gene (NM_000088.4). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was classified as a pathogenic variant (PVS1+PS2+PM2_Supporting) for disrupting the downstream open reading frame resulting in premature translational termination, being de novo in origin, and lacking records in the population and disease databases.For fetus 2, ultrasonography at 23 weeks of gestation also revealed shortening of bilateral humerus and femurs by one and four weeks, respectively, in addition with bending of bilateral femurs, tibias and fibulas. Fetus 2 had harbored a heterozygous c.1557+3A>G variant in intron 26 of the COL1A2 gene (NM_000089.4). Minigene experiment showed that it has induced skipping of exon 26 from the COL1A2 mRNA transcript, resulting in an in-frame deletion (c.1504_1557del) of the COL1A2 mRNA transcript. The variant was inherited from its father and had been previously reported in a family with OI type 4. It was therefore classified as a pathogenic variant (PS3+PM1+PM2_Supporting+PP3+PP5). CONCLUSION The c.3949_3950insGGCATGT (p.N1317Rfs*114) variant in the COL1A1 gene and c.1557+3A>G variant in the COL1A2 gene probably underlay the disease in the two fetuses. Above findings not only have enriched the mutational spectrum of OI, but also shed light on the correlation between its genotype and phenotype and provided a basis for genetic counseling and prenatal diagnosis for the affected pedigrees.
Pregnancy ; Female ; Humans ; Osteogenesis Imperfecta/genetics* ; Collagen Type I, alpha 1 Chain ; Collagen Type I/genetics* ; Mutation ; Fetus

BACKGROUNDLung cancer is the leading cause of malignant tumor death among Chinese population. It has been known that the development of lung cancer may be associated with genetic po-lymorphism of some lung cancer related genes. The aim of this study is to evaluate the relationship between genetic polymorphism of metabolizing enzymes and susceptibility of lung cancer in Chinese population.

METHODSPolymorphism of CYP2E1 RsaI/PstI and GSTM1 was detected in 99 patients with lung cancer and 66 patients with benign pulmonary disease by PCR-RFLP and PCR. The association between genetic polymorphism and susceptibility of lung cancer was analyzed.

RESULTSNo significant difference in three RsaI/PstI genotype distribution of CYP2E1 was found between lung cancer group and control group (Chi-Square=1.374, P=0.241). (2) The frequency of GSTM1-null genotype in lung cancer group was significantly higher than that in control group (57.6% vs 40.9%, Chi-Square=4.401, P=0.036). (3) The individuals who carried with GSTM1-null genotype had a 1.96 fold increased risk of lung cancer (OR=1.96, 95%CI=1.042-3.689, P=0.037) than those who carried with GSTM1-present genotype. (4) When data were stratified by smoking status, the smokers who carried with c1/c1 genotype had a significantly higher risk of lung cancer (OR=3.525, 95%CI=1.168- 10.638, P=0.025) than those never-smokers who carried with at least one c2 allel. (5) When combination of polymorphism of CYP2E1 RsaI/PstI genotype and GSTM1 genotype was analyzed, compared with individuals who had concurrent present of GSTM1 and at least one c2 allel genotype, the risk of lung cancer for combination of GSTM1 null and c1/c1 genotype was increased significantly (OR=3.449, 95%CI=1.001- 11.886, P=0.050). Considering smoking status, compared with never-smokers who had concurrent present of GSTM1 and at least one c2 allel genotype, the risk of lung cancer for combination of GSTM1 null and c1/c1 genotype was remarkably increased (OR=11.553, 95%CI=1.068-124.944, P=0.044), as well as that for combination of GSTM1 null and at least one c2 allel genotype (OR=13.374, 95%CI=1.258-142.166, P= 0.032).

CONCLUSIONS(1)GSTM1 null genotype is an important factor associated with increased risk of lung cancer. (2) The combination of c1/c1 and GSTM1-null genotype can remarkably increase risk of lung cancer both in smokers and non-smokers.

Objective:To investigate the reproducibility of whole-heart and volume-targeted balanced steady-state free precession (bSSFP) non-contrast MR coronary angiography (CMRA) for displaying coronary trunks.Methods:From February and September 2021, the whole-heart and volume-targeted CMRA examinations of 58 volunteers were prospectively and consecutively acquired in The First Affiliated Hospital of Fujian Medical University. Each volunteer underwent CMRA twice within a week. The subjective score, vessel-to-myocardium ratio (VMR), vessel-to-fat ratio (VFR), signal-noise ratio (SNR), and coronary corresponding coordinate was analyzed and extracted. Inter-observer, intra-observer and inter-scan consistency were evaluated by intraclass correlation coefficient (ICC), Bland-Altman analysis, Hausdorff Distance (HD), and Dice Similarity Coefficient (DSC).Results:The inter-observer and intra-observer consistencies of subjective scores, VMR, and VFR of the whole-heart and volume-targeted coronary artery images were excellent (ICC>0.76, P<0.001). The inter-scan VFR consistencies of RCA, LM, and LCX of whole-heart coronary scans were moderate (ICC=0.235, 0.264, 0.380, all P<0.05), while the consistencies of the remaining variables were good, (all ICCs>0.49, P<0.001). Bland-Altman method showed that most VMR, VFR, and SNR of two CMRA imaging were within the 95% limits of agreement. Whole-heart CMRA inter-and intra-observer mean HD was 1.79 (1.35, 3.25), 1.68 (1.09, 4.10), mean DSC was 0.96±0.04, 0.97±0.03. Volume-targeted CMRA inter-and intra-observer mean HD were 1.74 (1.63, 3.11), 1.74 (1.63, 1.98), and the mean DSC was 0.91±0.10, 0.95±0.05. The subjective score of raw images of the total artery trunk of volume-targeted CMRA [3.86 (3.68,4.00) vs. 3.80 (3.58,3.96) ], VMR [1.45 (1.27,1.58) vs. 1.22 (1.13,1.41) ], and VFR [7.36 (6.44,8.60) vs. 5.97 (4.97,6.64) ] were better than those of whole-heart CMRA (all P<0.05). The overall subjective score of whole-heart CMRA coronary trunk curved projection reformation was better than volume-targeted CMRA [3.75 (3.57, 3.88) vs. 3.63 (3.44, 3.71)] ( P<0.001). Conclusions:Whole-heart and volume-targeted bSSFP non-contrast CMRA represent good reproducibility and image quality in the main coronary artery of healthy volunteers. Both of the two methods have their advantages and complement each other.

Objective:To analyze the characteristic of prenatal serological screening in fetus with X-linked ichthyosis (XLI), and to explore the relationship between unconjugated estriol (uE 3) levels and XLI. Methods:A total of 56 fetuses with Xp22.31 microdeletion indicated by prenatal diagnosis and 70 fetuses diagnosed with trisomy 21 and 26 fetuses with trisomy 18 in Henan Provincial People's Hospital and Affiliated Hospital of Weifang Medical College from September 2016 to June 2021 were collected. The multiples of median (MoM) values of uE 3, alpha-fetoprotein (AFP), and human chorionic gonadotropin (hCG) during the second trimester of pregnancy were retrospectively analyzed. Prenatal diagnosis was made by amniotic fluid karyotype analysis and genome copy number variant analysis, parent genetic verification and pathogenicity analysis were performed, and maternal and infant outcomes were followed up. Results:Of 56 pregnant women with fetal Xp22.31 microdeletion, 43 underwent serological screening during the second trimester of pregnancy, of which 42 were abnormal (39 male fetuses and 3 female fetuses). The median uE 3 MoM value of 39 male fetuses [0.06 (0.00-0.21)] was lower than the normal value and significantly lower than that of fetuses with trisomy 21 [0.71 (0.26-1.27)] and fetuses with trisomy 18 [0.36 (0.15-0.84)], the difference was statistically significant ( Z=99.96, P<0.001). While the MoM values of AFP and hCG were all within the normal range. Among the 56 fetuses carrying Xp22.31 microdeletion, 45 were male fetuses and 11 were female fetuses, and the deletion fragments all involved STS gene. Eighty-nine percent (50/56) were inherited from mother (49 cases) or father (1 case), and 11% (6/56) were de novo mutations. Follow-up showed 48 live births (38 males and 10 females) and 8 chose to terminate pregnancy (7 males and 1 female). Among the 38 male newborns, 37 presented with scaly skin changes from 1 to 3 months of age, and one had no clinical manifestations until 4 months after birth. Ten female newborns had no obvious clinical manifestations. Conclusions:The decrease levels of uE 3 MoM on maternal serological screening is closely related to the higher risk of XLI in male fetuses. For pregnant women with low uE 3 in serological screening or with family history of ichthyosis, in addition to chromosomal karyotype analysis, joint detection of genomic copy number variant analysis should be recommended.