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OBJECTIVE@#To explore the coagulation deficit and genetic basis for a Chinese pedigree affected with Congenital dysfibrinogenemia (CD).@*METHODS@#Peripheral venous blood samples of the proband and her family members (including 4 individuals from three generations) were subjected to routine blood test and assays of liver and kidney functions and viral hepatitis to exclude related diseases. Clauss method and DFg-PT method were used to determine the fibrinogen activity (Fg:C), and an immunoturbidimetric assay was used to determine the level of fibrinogen antigen (Fg:Ag). All of the exons (22 in total) and their flanking sequences of the FGA, FGB and FGG genes were amplified by PCR and directly sequenced. Variants in the coding regions of the three genes and transcriptional splicing sites were screened by using Mutation SurveyorTM software.@*RESULTS@#The Clauss method showed that Fg:C was significantly reduced in the proband and her father, whilst her mother and son were normal. With the DFg-PT method, the proband, her parents and son were all within the normal range. The Fg:C/Fg:Ag ratio of the proband and her father was lower than 0.7, whilst her mother and son were above 0.7. No significant change in the prothrombin time, activated partial thromboplastin clotting time and thrombin time was noted. Two genetic variants were detected, which included a homozygous missense variant in the FGA gene [c.991A>G (p.Thr331Ala)], which was predicted to be benign, and a heterozygous missense variant of the γ chain of the FGG gene [c.1211C>G (p.Ser404Phe)], which is located in a conserved region and unreported in the CLINVAR/HGMD/EXAC/1000G databases and literature.@*CONCLUSION@#This pedigree has conformed to the autosomal dominant inheritance of CD. The c.1211C>T (p.Ser404Phe) missense variant of the γ chain of the FGG gene probably underlay the pathogenesis of CD in this pedigree. The variant was unreported previously and named as "Fibrinogen Harbin II Ser404Phe".
Subject(s)
Female , Humans , Afibrinogenemia/congenital , East Asian People , Fibrinogen/genetics , Mothers , Mutation , PedigreeABSTRACT
@#Abstract: Objective （ ） To evaluate the internal exposure levels and risk in nuclear medicine workers NMWs engaged in Methods radionuclide therapy in Guangdong Province. A total of 61 NMWs from eight hospitals in Guangdong Province were selected as the study subjects using the convenient sampling method. The 0.364 MeV full energy peak efficiency was detected in （ ） in vitro ， - deltoid muscle of right upper arm as background and thyroid gland by direct measurement method and the iodine 131 （131 ） Results ，131 I activity in thyroid gland was calculated to evaluate the internal irradiation level. Among the 61 NMWs I was ， detected in the thyroid gland of four nuclear medical staffs in three hospitals and the detection rate was 6.6%. The median and - ［M（ P-P ）］ 131 （ - ） 0 100 percentile 0 100 of thyroid I activity were 42.9 35.1 47.1 Bq. When assuming that the monitoring period was ， M（ P-P ） （ - ） ， 30 days the 0 100 of single committed effective dose in thyroid gland was 0.014 0.011 0.015 mSv and the annual dose （ - ） Conclusion of internal irradiation was 0.162 0.132 0.180 mSv/a. The internal exposure of NMWs in the eight hospitals in （ ） ， Guangdong Province meets the annual effective dose limits ≤20.000 mSv/a . However it is necessary to pay attention to the internal radiation protection of NMWs and take reasonable protective measures to reduce the internal exposure risk of NMWs.
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Objective To investigate the implementation effect of standardized training of residents in obstetrics and gynecology.Methods A total of 40 students who participated in the standardized residency training of obstetrics and gynecology in our hospital from 2016 to 2018 were selected as respondents.The scores of professional dedication,sense of responsibility,communication skills,document writing,medical history collection,physical examination,diagnostic and differential abilities,drug use,clinical skills,and computer use were evaluated before and after training.The scores of theoretical and skill exams before and after training were collected and compared to evaluate the implementation effect of standardized training of residents in obstetrics and gynecology.Results After training,there were significant changes in the scores of professional dedication [(4.775 ± 0.366) vs.(7.475 ± 0.362),P＜0.05)],sense of responsibility [(4.800 ±0.333) vs.(7.850 ± 0.366),P＜0.05],communication skills [(4.575 ± 0.382) vs.(7.550 ± 0.339),P＜0.05],document writing [(4.833 ± 0.376) vs.(7.762 ± 0.343),P＜0.05],medical history collection [(4.762 ± 0.314)vs.(7.738 ± 0.316),P＜0.05],physical examination [(4.434 ± 0.347) vs.(7.565 ± 0.317),P＜0.05],diagnostic and differential abilities [(4.239 ± 0.274) vs.(7.348 ± 0.314),P＜0.05],drug use [(4.370 ± 0.261) vs.(8.022 ±0.246),P＜0.05],clinical skills [(4.370 ±0.330) vs.(8.217 ±0.265),P＜0.05],and computer use [(4.652 ± 0.260) vs.(8.630 ± 0.289),P＜0.05].There were also significant changes after training in the scores of theoretical exam [(70.950 ± 1.165) vs.(89.675 ± 1.164),P＜0.05] and skill exam [(67.575 ± 0.947) vs.(88.150 ± 0.877),P＜0.05].Conclusion Standardized training of residents in obstetrics and gynecology can enhance their clinical skills and improve their clinical thinking ability.
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Objective To study the tumor suppression of Chinese caterpillar fungus water decoction combined cisplatin on a tumor burdened mice .Methods The beforehand vaccinal HCT8 tumor burdened mice were randomly devided into 5 groups(n=10) ,then 3 groups of Chinese caterpillar fungus water decoction were given a tumor burdened mice stomach (2 .5 ,5 .0 ,10 g/kg) ,1 times a day ,12 d .1 group of mice were given saline .1 group were given cisplatin .Determination of different concentrations of cordyceps water decoction lavage ,then observe the changes of tumor‐burdened bone tumors in mice weight .Results For vaccination HCT8 tumor burdened bone tumors had an average weight of each dose group mice compared with saline group have significant difference(P<0 .01) ,while Chinese caterpillar fungus water decoction (2 .5 ,5 .0 g/kg) and cisplatin group mice tumor block is more significant difference(P< 0 .01) ,the tumors had the lighter weight .Conclusion Chinese caterpillar fungus water decoction has tumor suppression effect on tumor burdened mice .
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Objective To study the nursing effect of evidence-based nursing in perioperativc period of gynecological laparoscopy operation and prevention of postoperative complications.Methods 238 cases of patients undergoing laparoscopic operation were setas the study group,the evidence-based nursing method was used in this group.Another 212 cases of patients undergoing laparoscopic operation were named as the control group,they were given conventional nursing care.The improvement of complications and anxiety emotion were compared between the two groups.Results The complication rate was 10.92% in the study group,and 29.24% in the control group,the difference between the two groups was significant.The decreased degree of total score of HAMA and psychic anxiety,somatic anxiety score in the study group was higher than those of the control group at discharge.The difference had statistical significance.Conclusions Evidence-based nursing plays an important role in decreasing the postoperative complications and improving the anxiety emotion of patients,which is worthy of clinical popularization.
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Objective To understand changes of serum creatase zymogram of measles in children with or without vaccination histories and their clinical significances and approach the protection of vaccination on myocard of children with measles. Methods Seventy-one hospitalised cases with measles were classified into measles-vaccinated group (n=23), non-vaccinated group (n=48),and 30 healthy children were selected as healthy control group.Serum creatine kinase (CK) and isodynamic enzyme (CK-MB), lactate dehydrogenase (LDH) and isodynamic enzyme1 (LDH1), ?- hydroxybutyrate dehydrogenase (?- HBD)in 3 group were detected with electrocardiography and clinical analysis was made.Results Compared with those in vaccinated group, CK-MB, LDH1 and ?-HBD in non-vaccinated group advanced remarkably (Pa
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OBJECTIVE: To optimize the formula and preparation technology of gel-matrix sustained release tablet of nicotinic acid(GSTNA).METHODS: The formula of GSTNA was optimized by orthogonal experiment with the amount of hydrophilic gel-matrix material HPMC(K15M,E15-LV) and that of adjuvant calcium hydrogen phosphate(CHP) as factors and with the in vitro release rates as index.Meanwhile,the verification test on the intra-and inter-batch release rates of the samples was performed.RESULTS: The optimum formula could be seen as follows: the ratios of HPMC(K15M,E15-LV) and CHP were 4%,40% and 25% respectively.The GSTNA prepared in this formula achieved a sustained drug release of up to 12 h,and both the intra-batch homogenicity and the inter-batch reproducibility were satisfactory.CONCLUSION: The GSTNA is reasonable in formula and simple in preparation technology.
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Objective To find out the defects existing in the rinsing and sterilizing process of the automatic bottle washer and to put forward an improvement measure and efficiency assessment.Methods To make the washer more effective,an automatic brush pre-washing process and a rotary spraying device were designed and used.The total bacteria amount,the total coliform group and the disinfectant (ClO2) residual level were employed as the assessment parameters.Results An external automatic pre-washing machine was installed on the bottle washer;the bottle washer was innovated so that its spray nozzle could be in directions and the rinsing and sterilizing process could be enhanced.The results showed that the improved machine ran well in treating the polluted and recycled bottles and all the assessment indexes were better than that of before improvement.Conclusion The improved automatic bottle washer is considered effective in cleanout and sterilization of bottles with a satisfactory result.