Objective:To analyze a Chinese pedigree with Hereditary coagulation factor Ⅻ (FⅫ) deficiency duo to variants of F12 gene and explore its molecular pathogenesis. Methods:A patient who underwent laparoscopic cystectomy at the Department of Gynecology of the First Affiliated Hospital of Wenzhou Medical University in June 2012 was selected as the study subject. Coagulation factor indexes of the proband and her family members (5 individuals from three generations) were determined. All exons, flanking sequences, 5′ and 3′ untranslated regions of the F12 gene of the proband and her family members were analyzed by direct sequencing. Three bioinformatics software was used to analyze the conservation, pathogenicity and protein model of the variant. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No. 2012-17). Results:The activated partial thromboplastin time (APTT), FⅫ activity (FⅫ: C) and FⅫ antigen (FⅫ: Ag) of the proband was 180.0 s, 1.0% and 2.1%, respectively. DNA sequencing revealed that she has harbored compound heterozygous variants of the F12 gene, namely c. 712_713insT (p.Cys238Leufs *73) in exon 8 and c. 1561G>A (p.Glu521Lys) in exon 13. Her mother and younger son were heterozygous for the p. Cys238Leufs*73 variant, while her older son was heterozygous for the p. Glu521Lys variant. Bioinformatic analysis suggested that Cys238 is highly conserved and p. Cys238Leufs*73 is a pathogenic variant, which eventually resulted in a truncated protein. Conclusion:The c. 712_713insT and c. 1561G>A compound heterozygous variants of the F12 gene probably underlay the decreased FⅫ level in this pedigree, among which c. 712_713insT (NM_000505) was unreported previously.

OBJECTIVE: To analyze a Chinese pedigree with Hereditary coagulation factor Ⅻ (FⅫ) deficiency duo to variants of F12 gene and explore its molecular pathogenesis. METHODS: A patient who underwent laparoscopic cystectomy at the Department of Gynecology of the First Affiliated Hospital of Wenzhou Medical University in June 2012 was selected as the study subject. Coagulation factor indexes of the proband and her family members (5 individuals from three generations) were determined. All exons, flanking sequences, 5' and 3' untranslated regions of the F12 gene of the proband and her family members were analyzed by direct sequencing. Three bioinformatics software was used to analyze the conservation, pathogenicity and protein model of the variant. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No. 2012-17). RESULTS: The activated partial thromboplastin time (APTT), FⅫ activity (FⅫ:C) and FⅫ antigen (FⅫ:Ag) of the proband was 180.0 s, 1.0% and 2.1%, respectively. DNA sequencing revealed that she has harbored compound heterozygous variants of the F12 gene, namely c.712_713insT (p.Cys238Leufs *73) in exon 8 and c.1561G>A (p.Glu521Lys) in exon 13. Her mother and younger son were heterozygous for the p.Cys238Leufs*73 variant, while her older son was heterozygous for the p.Glu521Lys variant. Bioinformatic analysis suggested that Cys238 is highly conserved and p.Cys238Leufs*73 is a pathogenic variant, which eventually resulted in a truncated protein. CONCLUSION The c.712_713insT and c.1561G>A compound heterozygous variants of the F12 gene probably underlay the decreased FⅫ level in this pedigree, among which c.712_713insT (NM_000505) was unreported previously.
Adult ; Female ; Humans ; Male ; Middle Aged ; Base Sequence ; China ; Factor XII/genetics* ; Heterozygote ; Mutation ; Pedigree ; Factor XII Deficiency/genetics* ; East Asian People

Objective:To analyze a Chinese pedigree with Hereditary coagulation factor Ⅻ (FⅫ) deficiency duo to variants of F12 gene and explore its molecular pathogenesis. Methods:A patient who underwent laparoscopic cystectomy at the Department of Gynecology of the First Affiliated Hospital of Wenzhou Medical University in June 2012 was selected as the study subject. Coagulation factor indexes of the proband and her family members (5 individuals from three generations) were determined. All exons, flanking sequences, 5′ and 3′ untranslated regions of the F12 gene of the proband and her family members were analyzed by direct sequencing. Three bioinformatics software was used to analyze the conservation, pathogenicity and protein model of the variant. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No. 2012-17). Results:The activated partial thromboplastin time (APTT), FⅫ activity (FⅫ: C) and FⅫ antigen (FⅫ: Ag) of the proband was 180.0 s, 1.0% and 2.1%, respectively. DNA sequencing revealed that she has harbored compound heterozygous variants of the F12 gene, namely c. 712_713insT (p.Cys238Leufs *73) in exon 8 and c. 1561G>A (p.Glu521Lys) in exon 13. Her mother and younger son were heterozygous for the p. Cys238Leufs*73 variant, while her older son was heterozygous for the p. Glu521Lys variant. Bioinformatic analysis suggested that Cys238 is highly conserved and p. Cys238Leufs*73 is a pathogenic variant, which eventually resulted in a truncated protein. Conclusion:The c. 712_713insT and c. 1561G>A compound heterozygous variants of the F12 gene probably underlay the decreased FⅫ level in this pedigree, among which c. 712_713insT (NM_000505) was unreported previously.

Objective To investigate the role of silencing regulatory protein 1(Sirt1)in the regulation of Vibrio vulnificus sepsis-induced macrophage apoptosis and the molecular mechanisms.Methods Mouse RAW264.7 macrophages which stably overexpressed Sirt1 were constructed and screened by genistein G418.CCK-8 analysis was used to detect the proliferation of cells in the control group and Sirt1-Flag group.The changes of expression levels of apoptosis-associated protein poly ADP-ribose polymerase(PARP),cleaved-PARP,caspase3,cleaved-caspase3 and acetylated p53 in different treatment groups were detected via Western blotting.A Vibrio vulnificus sepsis model in mice was established,and the expression levels of apoptosis-associated protein cleaved-caspase3 in the lung,spleen and liver of mice of different treatment groups were detected by immunohistochemistry.Results Overexpression of Sirt1 reduced VVC-induced RAW264.7 cell damage.Overexpression of Sirt1 as well as RSV pretreatment lowered the expression of apoptosis-associated protein cleaved-PARP,cleaved-caspase3 and acetylated p53 in VVC-stimulated RAW264.7 cells and mouse peritoneal macrophages.In the mouse model of Vibrio vulnificus sepsis,therapeutic administration of RSV reduced the expression of apoptosis-associated protein marker cleaved-caspase3 in lung,spleen and liver tissues.Conclusion Sirt1 can inhibit p53 acetylation and reduces apoptosis in mouse macrophages,which helps protect against Vibrio vulnificus sepsis.

Objective Based on the PDCA cycle theory,it explores the application mode of scenario simulation teaching method in clinical basic skills training.Methods The 96 students majoring in clinical medicine from the First Af-filiated Hospital of Harbin Medical University in 2019 were selected as the research objects,and the experimental group and the control group were set up respectively,with 48 students in each group,and skills training was car-ried out from March to December 2022.The control group was trained in the traditional way,and the experimental group was trained in the scenario simulation teaching method based on the PDCA cycle.The training effect and training satisfaction of the control group and the experimental group were compared and analyzed.Results In the sur-vey of the training effect of the students in the experimental group,the evaluation results of the basic clinical skills operation were higher than those in the control group,and the difference between the two groups was statistically significant(P＜0.01).In terms of the appropriate and safe operation mode,There was no significant difference be-tween the two groups(P＞0.05).In the training satisfaction survey,students in the experimental group were signifi-cantly more satisfied with the training than those students who are in the control group.The difference was statistical-ly significant(P＜0.01).Conclusion The application of scenario simulation teaching method based on PDCA cycle in clinical basic skills training helps to improve the quality of clinical basic skills training and student satisfaction.

Objective Based on the PDCA cycle theory,it explores the application mode of scenario simulation teaching method in clinical basic skills training.Methods The 96 students majoring in clinical medicine from the First Af-filiated Hospital of Harbin Medical University in 2019 were selected as the research objects,and the experimental group and the control group were set up respectively,with 48 students in each group,and skills training was car-ried out from March to December 2022.The control group was trained in the traditional way,and the experimental group was trained in the scenario simulation teaching method based on the PDCA cycle.The training effect and training satisfaction of the control group and the experimental group were compared and analyzed.Results In the sur-vey of the training effect of the students in the experimental group,the evaluation results of the basic clinical skills operation were higher than those in the control group,and the difference between the two groups was statistically significant(P＜0.01).In terms of the appropriate and safe operation mode,There was no significant difference be-tween the two groups(P＞0.05).In the training satisfaction survey,students in the experimental group were signifi-cantly more satisfied with the training than those students who are in the control group.The difference was statistical-ly significant(P＜0.01).Conclusion The application of scenario simulation teaching method based on PDCA cycle in clinical basic skills training helps to improve the quality of clinical basic skills training and student satisfaction.

Objective Based on the PDCA cycle theory,it explores the application mode of scenario simulation teaching method in clinical basic skills training.Methods The 96 students majoring in clinical medicine from the First Af-filiated Hospital of Harbin Medical University in 2019 were selected as the research objects,and the experimental group and the control group were set up respectively,with 48 students in each group,and skills training was car-ried out from March to December 2022.The control group was trained in the traditional way,and the experimental group was trained in the scenario simulation teaching method based on the PDCA cycle.The training effect and training satisfaction of the control group and the experimental group were compared and analyzed.Results In the sur-vey of the training effect of the students in the experimental group,the evaluation results of the basic clinical skills operation were higher than those in the control group,and the difference between the two groups was statistically significant(P＜0.01).In terms of the appropriate and safe operation mode,There was no significant difference be-tween the two groups(P＞0.05).In the training satisfaction survey,students in the experimental group were signifi-cantly more satisfied with the training than those students who are in the control group.The difference was statistical-ly significant(P＜0.01).Conclusion The application of scenario simulation teaching method based on PDCA cycle in clinical basic skills training helps to improve the quality of clinical basic skills training and student satisfaction.

Objective Based on the PDCA cycle theory,it explores the application mode of scenario simulation teaching method in clinical basic skills training.Methods The 96 students majoring in clinical medicine from the First Af-filiated Hospital of Harbin Medical University in 2019 were selected as the research objects,and the experimental group and the control group were set up respectively,with 48 students in each group,and skills training was car-ried out from March to December 2022.The control group was trained in the traditional way,and the experimental group was trained in the scenario simulation teaching method based on the PDCA cycle.The training effect and training satisfaction of the control group and the experimental group were compared and analyzed.Results In the sur-vey of the training effect of the students in the experimental group,the evaluation results of the basic clinical skills operation were higher than those in the control group,and the difference between the two groups was statistically significant(P＜0.01).In terms of the appropriate and safe operation mode,There was no significant difference be-tween the two groups(P＞0.05).In the training satisfaction survey,students in the experimental group were signifi-cantly more satisfied with the training than those students who are in the control group.The difference was statistical-ly significant(P＜0.01).Conclusion The application of scenario simulation teaching method based on PDCA cycle in clinical basic skills training helps to improve the quality of clinical basic skills training and student satisfaction.

Objective Based on the PDCA cycle theory,it explores the application mode of scenario simulation teaching method in clinical basic skills training.Methods The 96 students majoring in clinical medicine from the First Af-filiated Hospital of Harbin Medical University in 2019 were selected as the research objects,and the experimental group and the control group were set up respectively,with 48 students in each group,and skills training was car-ried out from March to December 2022.The control group was trained in the traditional way,and the experimental group was trained in the scenario simulation teaching method based on the PDCA cycle.The training effect and training satisfaction of the control group and the experimental group were compared and analyzed.Results In the sur-vey of the training effect of the students in the experimental group,the evaluation results of the basic clinical skills operation were higher than those in the control group,and the difference between the two groups was statistically significant(P＜0.01).In terms of the appropriate and safe operation mode,There was no significant difference be-tween the two groups(P＞0.05).In the training satisfaction survey,students in the experimental group were signifi-cantly more satisfied with the training than those students who are in the control group.The difference was statistical-ly significant(P＜0.01).Conclusion The application of scenario simulation teaching method based on PDCA cycle in clinical basic skills training helps to improve the quality of clinical basic skills training and student satisfaction.

Objective Based on the PDCA cycle theory,it explores the application mode of scenario simulation teaching method in clinical basic skills training.Methods The 96 students majoring in clinical medicine from the First Af-filiated Hospital of Harbin Medical University in 2019 were selected as the research objects,and the experimental group and the control group were set up respectively,with 48 students in each group,and skills training was car-ried out from March to December 2022.The control group was trained in the traditional way,and the experimental group was trained in the scenario simulation teaching method based on the PDCA cycle.The training effect and training satisfaction of the control group and the experimental group were compared and analyzed.Results In the sur-vey of the training effect of the students in the experimental group,the evaluation results of the basic clinical skills operation were higher than those in the control group,and the difference between the two groups was statistically significant(P＜0.01).In terms of the appropriate and safe operation mode,There was no significant difference be-tween the two groups(P＞0.05).In the training satisfaction survey,students in the experimental group were signifi-cantly more satisfied with the training than those students who are in the control group.The difference was statistical-ly significant(P＜0.01).Conclusion The application of scenario simulation teaching method based on PDCA cycle in clinical basic skills training helps to improve the quality of clinical basic skills training and student satisfaction.