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Objective:To analyze the phenotype and genotype of two propositi with inherited hypodysfibrinogenaemia caused by compound heterozygous mutations, and investigate the molecular mechanism.Metheds:Two propositi and their family members(7 person in 3 generations and 10 person in 3 generations,respectively) were investigated. The activity of plasma fibrinogen (Fg:C) and thrombin time (TT) were analyzed by coagulation method, the antigen of plasma fibrinogen (Fg:Ag) was detected by immunoturbidimetry. All of the exons and flanking sequences of FGA,FGB,FGG of two propositi were amplified by PCR, followed by direct sequencing. The ClustalX-2, 1-win software was used to analyze the conservatism of mutated gene locus. PROVEAN and Mutation Taster were applied to analyze the pathogenicity of mutated amino acid. The changes of the protein spatial structure and intermolecular interaction were analyzed by Pymol.Results:Fg:C and Fg:Ag of proposita A and B were both significantly decreased (0.74 and 0.78 g/L, 0.96 and 0.94 g/L, respectively). Gene analysis revealed that proposita A and B both carried a heterozygous mutation c.2185G>A(p.AαGlu710Lys) in exon 6 of FGA. Furthermore, proposita A also carried a heterozygous mutation c.701G>T(p.γTrp208Leu) in exon 7 of FGG, and proposita B carried a heterozygous mutation c.1015A>C(p.γSer313Arg) in exon 8 of FGG. Phylogenetic analysis suggested that p.AαGlu710,p.γTrp208 and p.γSer313 were highly conserved among homologous species. All variants were predicted to be deleterious by two online bioinformatic softwares. The protein model analysis indicated that protein spatial structure and intermolecular hydrogen bonds were changed by these variants, which destroyed the stability of Fg.Conclusion:The compound heterozygous mutations of p.AαGlu710Lys and p.γTrp208Leu,p.AαGlu710Lys and p.γSer313Arg might account for the hypodysfibrinogenemia in two propositi.
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Objective:To investigate the effects of of anti tumor necrosis factor-α (TNF-α) in adjuvant treatment of strangulated intestinal obstruction combined with ischemic intestinal necrosis.Methods:From February 2011 to August 2016 in Huadu District People′s Hospital Affiliated with Southern Medical University, 122 patients with strangulated intestinal obstruction combined with ischemic intestinal necrosis were selected and were equally divided into the experimental group and control group with 61 cases in each group according to the random draw envelope principle. Conventional surgical resection and anastomosis was used in control group, the postoperative anti TNF-α therapy was given for 2 weeks based on the treatment in control group.Results:All patients completed surgery and there were no serious complications during operation.The postoperative anal exhaust time and symptom remission time in experimental group were significantly lower than those in control group: (2.14 ± 0.41) d vs. (6.24 ± 1.28) d and (3.54 ± 0.77) d vs. (6.99 ± 0.91) d ( P<0.05). The incidence of postoperative 14 d complications such as anastomotic leakage, wound infection, anastomotic stenosis and pulmonary infection in the experimental group was 4.9%(3/61), and that of the control group was 18%(11/61), and the incidence of postoperative complications in the experimental group was significantly lower than that in the control group ( P<0.05). The postoperative 1d and 7 d serum TNF-α content in the experimental group was significantly lower than that in the control group ( P<0.05). The postoperative 14 d anal function in the experimental group was significantly better than that in the control group ( P<0.05). MRASP and MSP of postoperative 14 d in experimental group were all significantly higher than those in the control group: (80.24 ± 11.39) mmHg (1 mmHg=0.133 kPa) vs. (76.24 ± 12.11) mmHg, (231.98 ± 45.29) mmHg vs. (226.39 ± 41.87) mmHg ( P<0.05). Conclusions:The anti TNF-α in adjuvant treatment of strangulated intestinal obstruction combined with ischemic intestinal necrosis can promote the recovery of clinical symptoms and inhibit the release of TNF-α. It also can reduce the incidence of postoperative complications and improve gastrointestinal motility of patients.
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AIM: To illuminate the effect of SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 (SMARCB1) in early diagnosis and prognosis of hepatocellular carcinoma (HCC) by determining the clinical expression of SMARCB1 in HCC tissue and benign liver tissue.METHODS: The specific target gene SMARCB1 was selected from these genes by using The Cancer Genome Atlas (TCGA).SMARCB1 expression in HCC tissue and benign liver tissue was measured by immunohistochemistry.Further statistical analysis of TCGA was performed to illuminate the role of SMARCB1 on HCC occurrence and progression.RESULTS: Compared with the benign liver tissue, immunohistochemical staining showed that SMARCB1 expression was significantly up-regulated in the HCC tissue (P<0.01).In addition, SMARCB1 expression was significantly associated with advanced tumor stage (P<0.05).The relation between SMARCB1 expression at mRNA level and clinical prognosis was analyzed.The results indicated that high SMARCB1 expression was an independent prognostic factor for HCC (P<0.05).CONCLUSION: SMARCB1 may play a part as a carcinogenic gene in tumorigenesis.We can distinguish primary HCC samples from non-malignant samples according to its different clinical expression.High SMARCB1 expression probably predicts poor outcome in HCC patients.
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Objective To investigate the present situation of institutes of rehabilitation medicine in Guangxi. Methods From March to July, 2015, all 287 hospitals in Guangxi were investigated with the Human Resource Statistics of Guangxi Rehabilitation Medicine Depart-ment and the Specialist Questionnaire of Guangxi Rehabilitation Medicine Department by E-mail through the local Health and Family Plan-ning Commissions. Results There were 125 rehabilitation medicine departments with 2146 personnels in Guangxi, 0.2 therapists per bed in average. The proportion was 1∶0.725 for rehabilitative physicians to therapists;1∶1.92∶3.14 for senior, intermediate and primary title for physicians;1∶8∶63 for therapists and 1∶5.6∶18.9 for nurses. About 91.3%of the department of rehabilitation medicine was in the tertia-ry hospitals and was able to provide the services of physical therapy, occupational therapy, speech therapy, swallowing rehabilitation, cogni-tive rehabilitation, psychological therapy and rehabilitation engineering, and so on. Conclusion Rehabilitation has made a big progress com-pared with that in 2009 in Guangxi, in term of institutes, human resources and the service ability. However, the distribution of institutions and human resources remains unbalanced.
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Objective To compare the disinfection efficacy of different disinfectants on dental unit waterlines (DUWLs). Methods 18 sets of DUWLs were randomly divided into 4 groups,and disinfected or treated with hydrogen peroxide (H2 O2 )disinfectant,sodium hypochlorite (NaClO)disinfectant,hydrogen peroxide silver ion disinfectant(Sanosil),and distilled water (DW)respectively.Water specimens from triple syringes and high-speed handpieces were taken,bacterial count before and after disinfection were compared.Results Before disinfection,no significant differences in bacterial counts were found among four groups (all P >0.05),bacterial counts of DUWLs of all groups severely exceeded the standard(all>3 000 CFU/mL).After disinfection,except DW group,bacterial counts of DUWLs of the other groups declined dramat-ically (all <100 CFU/mL),bacterial count after disinfection were all obviously lower than before disinfection (all P <0.001 ).One week after disinfection,bacterial counts among three disinfectant groups in different time periods were statisti-cally different (triple syringes:Day1—Day5,all P <0.05;high-speed handpieces:Day2,Day3 and Day5,all P <0.05). Day3 after disinfection of triple syringes by H2 O2 and NaClO,Day4 after disinfection of high-speed handpieces by H2 O2 and NaClO,and Day5 of triple syringes and high-speed handpieces by Sanosil all exceeded the standard of Center for Disease Control and Prevention of America.One week after disinfection,bacterial counts of three disinfection groups all exceeded or approximated to that before disinfection.Conclusion Three types of disinfectants can all effectively reduce bacterial load in DUWLs.Compared with other disinfectants,Sanosil has advantage of inhibiting bacterial growth after disinfection.
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Objective To detect the expression level and procoagulant activity of tissue factor (TF)in the blood and urine in patients with type 2 diabetic nephropathy (DN),and investigate its related clinical significance.Methods A total of 120 DN patients were collected and divided into 3 groups according to urinary albumin and creatinine ratio:normal albuminuria group (＜3.4 mg/mmol) with 64 cases,microalbuminuria group ( ≥3.4 mg/nunol,and ＜ 34.1 mg/mmol) with 35 cases and macroalbuminuria group (≥34.1 mg/mnol) with 21 cases.Twenty healthy persons were enrolled as control group.The expression of monocytes TF in peripheral blood was detected by flow cytometric analyzer.The expression ofTF in the blood and urine was detected by ELLSA.The prcoagulant activity of TF was detected by one-stage coagulation.Results The expressions of monocytes TF in normal albuminuria group,microalbuminuria group and macroalbuminuria group [ (4.32 ± 1.25 )％,(5.01 ± 1.73)％,( 1 1.83 ± 2.14)％ ] were significantly higher than that in control group [(0.84 ± 0.36)％ ](P ＜0.01).TF procoagulant activity in normal albuminuria group,microalbuminuria group and macroalbuminuria group [ ( 64.3 ± 21.2),( 67.1 ± 17.3 ),( 113.8 ± 44.4)mU/L] were obviously higher than that in control grouP [ (23.8 ± 16.4) mU/L](P＜ 0.01 ).The expression of monocytes TF in normal albuminuria group and microalbuminuria group had no statistical significance (P＞0.05),while the expression in macroalbuminuria group had significant difference compared with that in normal albuminuria group and microalbuminuria group (P ＜ 0.01 ).The expression of TF in the blood and urine of DN patients was obviously higher than that of control group (P ＜ 0.01 ).The expression of TF in the blood was positively correlated with that in urine (r =0.684,P ＜ 0.01 ).Conclusions The expressions of TF in the blood and urine in DN patients increase and its procoagulant activity enhances.The expression level of TF has a closed relationship with the increase of albuminuria.
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Objective To explore the effect of breast-conserving therapy for breast cancer(BCT) and its prognosis. Methods The clinical data of 69 cases of BCT admitted from January 1992 to December 2003 were analyzed retrospectively. The cases included those who had BCT without radiotherapy and those who had BCT with adjuvant radiotherapy, chemotherapy and hormonal therapy. The patients were followed up for 12 to 140 months. Results The 3-year recurrence rate for patients without radiotherapy (11.54%) was higher than that for those with radiotherapy (3.03%) (P