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OBJECTIVE@#To analyze the sequence of the F12 gene and molecular mechanism for 20 patients with coagulation factor Ⅻ (FⅫ) deficiency.@*METHODS@#The patients were selected from the outpatient department of the Second Hospital of Shanxi Medical University from July 2020 to January 2022. The activity of coagulation factor Ⅷ (FⅧ:C), factor Ⅸ (FⅨ:C), factor Ⅺ (FⅪ:C) and factor Ⅻ (FⅫ:C) were determined by using a one-stage clotting assay. All exons and 5' and 3' UTR of the F12 gene were analyzed by Sanger sequencing to detect the potential variants. Bioinformatic software was used to predict the pathogenicity of the variants, conservation of amino acids, and protein models.@*RESULTS@#The FⅫ:C of the 20 patients has ranged from 0.07% to 20.10%, which was far below the reference values, whilst the other coagulation indexes were all normal. Sanger sequencing has identified genetic variants in 10 patients, including 4 with missense variants [c.820C>T (p.Arg274Cys), c.1561G>A (p.Glu521Lys), c.181T>C (p.Cys61Arg) and c.566.G>C (p.Cys189Ser)], 4 deletional variants c.303_304delCA(p.His101GlnfsX36), 1 insertional variant c.1093_1094insC (p.Lys365GlnfsX69) and 1 nonsense variant c.1763C>A (p.Ser588*). The remaining 10 patients only harbored the 46C/T variant. The heterozygous c.820C>T(p.Arg274Cys) missense variant in patient 1 and the homozygous c.1763C>A (p.Ser588*) nonsense variant in patient 2 were not included in the ClinVar and the Human Gene Mutation Database. Bioinformatic analysis predicted that both variants were pathogenic, and the corresponding amino acids are highly conserved. The protein prediction models suggested that the c.820C>T (p.Arg274Cys) variant may affect the stability of the secondary structure of FⅫ protein by disrupting the original hydrogen bonding force and truncating the side chain, leading to changes in the vital domain. c.1763C>A (p.Ser588*) may produce a truncated C-terminus which may alter the spatial conformation of the protein domain and affect the serine protease cleavage site, resulting in extremely reduced FⅫ:C.@*CONCLUSION@#Among individuals with low low FⅫ:C detected by one-stage clotting assay, 50% have harbored variants of the F12 gene, among which the c.820C>T and c.1763C>A were novel variants underlying the reduced coagulating factor FⅫ.
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Humanos , Factor XII/genética , Linaje , Mutación , Mutación Missense , Heterocigoto , Deficiencia del Factor XII/genéticaRESUMEN
Objective::To observe the effect of modified Tongqiao Huoxuetang combined with stent thrombectomy in treating acute cerebrovascular occlusion. Method::A total of 120 cases were randomly divided into control group and observation group, with 60 cases in each group. The control group received stent thrombectomy, while the observation group received modified Tongqiao Huoxuetang combined with stent thrombectomy. The clinical symptoms [health neural function defect scale stroke scale scores(NIHSS), activities of daily living(ADL), mini mental state examination(MMSE)], hemodynamic indexes [high-shear reduction viscosity(HSRV), medium-shear reduction viscosity(MSRV), low-shear reduction viscosity(LSRV), whole blood plasma viscosity(WBV)], vascular endothelial functions [serum nitric oxide synthase(NOS), endothelin-1(ET-1), vascular endothelial growth factor(VEGF)] were observed. The clinical efficacy and the incidence of adverse reactions were compared between two groups. The blood routine, urine routine, heart, liver and kidney function, incidence of cerebral hemorrhage in two groups were observed during the treatment. Result::There were 4 cases were shed in control group and 2 cases in observation group during the study period. The total effective rate in observation group was 94.8%(55/58), which was higher than 83.9% of the control group(47/56)(P<0.05). The NIHSS in observation group was lower than that in control group(P<0.05), whereas ADL and MMSE were higher than those in control group(P<0.05). The hemorheological indexes in observation group were lower than those in control group(P<0.05), NOS and VEGF in observation group were higher than those in control group(P<0.05), and ET-1 score was lower than that in control group(P<0.05). During the study period, the incidence of cerebral hemorrhage was 7.14%(4/56) in control group and 8.6%(5/58) in observation group, with no significant difference. Conclusion::Modified Tongqiao Huoxuetang combined with stent thrombectomy could significantly improve the clinical symptoms, hemorheology and vascular endothelial function of patients with acute cerebrovascular occlusion, and so is worthy of clinical promotion and application.
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Objective To evaluate the present family doctors staffing and service capacity building in Changning under the linkage reform of contracting service and health insurance payment . Methods The staffing data of family doctors were collected from the 2013-2015 annual reports ,while the data on their qualifications ,training ,job stress and competence were collected from two follow-up investigations. These data were analyzed with descriptive statistics .Results in 2016 ,the number of family doctors totaled 27000 ,up to 2.75 doctors per 10000 people.Over 97％ of the family doctors were qualification certificated.More than half of the family doctors participated in the standardized training .68.80％ (97/141)of the family doctors complained overwork.More than 80％ of the family doctors have encountered technical problems with medical services .Conclusions The number and quality of family doctors in Changning have been greatly improved to satisfy contracting services of the residents to a minimal extent. However ,more family doctors are needed ,as they still face much work stress. The family doctors call for standardized training ,better payroll and incentive mechanism ,better career development and coordinated support mechanism ,as well as better team building for greater performance .
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Objective To evaluate the motivation effect of family doctors′ contracting service and health insurance compensation mechanism from the perspective of income change and income satisfaction of family doctors .Methods The situation about salary compensation plan reform and the change of income level and structure were learnt from interviews on the management personnel and questionnaire surveys of family doctors in 2013 and 2016 .The data were subject to descriptive statistics .Results The proportion of family doctors earning between 8000 and 10000 yuan in 2016 rose to 67.16％ (90/134 ) from 18.18％ (26/143 ) in 2013.11.72％ (15/128 ) of family doctors′contracting service fee amounted to over 50％ of their income. The number of family doctors who were dissatisfied with their income has fallen by 28.52％ .There were still 51.90％ (68/131)of the family doctors who were not satisfied with their income and 24.64％ (34/138)of them held the incentives of performance appraisal as a failure .Conclusions The income of family doctors has been greatly increased in the last three years.Contracting service fee plays a key role in motivating these doctors , but three risks also need to be prevented in the process of further reform .
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Objective Under the linkage reform of family doctor service and medical insurance payment ,to study the family doctors′ career cognitive and expectations in order to improve the endogenous power of the family doctor system development ,and push forward the reform with sustainable effects .Methods All the family doctors in Changning were surveyed. There were 154 family doctors surveyed in the first phase of 2013 ,and 143 in the second phase of 2016 .The data were subject to descriptive statistics .Results About 80％ of the family doctors had a clear understanding of the family doctor system in 2016 ,with the proportion of family doctors clearly understanding their duties risen from 55.26％ (84/152)in 2013 to 61.27％ (87/142)in 2016 .Self-assessment of their work value and professional reputation were more positive significantly .70％ of them believed their social status as above average. The proportion of family doctors who were very confident/confident" in the development of community health services and family doctor system increased from 31.72％ (46/145) to 47.20％ (59/125)and from 31.72％ (46/145)to 52.42％ (65/124)respectively .Conclusions The occupational cognition and career expectations of family doctors in Changning district have been significantly improved ,which can guide their behavior towards reform objectives and propel the family doctor system progress smoothly .
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Objective To establish an index system of science and technology evaluation for public hospitals in Shanghai, which is scientific and rational, operable, promotable, and comparable.The purpose is to improve the comprehensive hospital evaluation system and promote the science and medical technology innovation development in Shanghai.Methods Based on overseas and domestic research experiences and Shanghai′s specifics, literature analysis and Delphi specialist consultation method were used for rationalization proposals for building such a system.Results This index system comprises three level-1 indicators of basis and conditions, results and outputs and social benefits and impacts, eight level-2 indicators and 24 level-3 indicators.Conclusions This index system should be improved stage by stage.Classification by type and level of public hospitals should be used in such evaluation, while horizontal development level and vertical development speed of science and technology should be combined.A unified evaluation standard should be developed by professional organizations.