Study on the effect of SSRI and SNRI combined with psychological intervention on the executive function in patients with depression untreated / 中国生化药物杂志

Objective To observe the effect of SSRI and SNRI drugs combined with clinical nursing path of untreated depression in patients with executive function. Methods From October 2014 to April 2016, the third people's Hospital of Yuyao was admitted to the 4 people's Hospital, who met the criteria of diagnosis and inclusion criteria. 80 cases of untreated depressive patients were randomly divided into two groups, according to clinical medication and nursing methods were defined as SSRI group, SSRI group and SNRI group, SNRI group, SSRI group were treated with 8 cycles of Pa Rossi Dean oral treatment, during the treatment group were given routine clinical care, SNRI group were given venlafaxine 8 During the period of oral treatment, treatment group Ⅱ were given clinical nursing path on the basis of conventional nursing, treatment and nursing care of patients before and after the change of executive function evaluation. Results SSRI Ⅱ, SNRI Ⅱ group WCST scores were better than SSRI Ⅰ, SNRI Ⅰ group; SNRI group Ⅱ WCST scores were better than SSRI group; SSRI group, SNRI group Ⅱ TMT evaluation results is better than that of SSRI group, SNRI group; SNRI group Ⅱ TMT evaluation results is better than that of SSRI group; the SSRI Ⅱ SNRI Ⅱ group the experimental results of TOL is better than that of SSRI group, SNRI group; SNRI group Ⅱ TOL experimental results better than SSRI Ⅱ group. Conclusion SSRI and SNRI drug treatment untreated depression patients exactly, combined with clinical nursing path can effectively improve the patients with degree of functional recovery, is worthy of clinical application.

Involvement of collagen-binding heat shock protein 47 in scleroderma-associated fibrosis

Uncontrolled fibrosis of skin and internal organs is the main characteristic of scleroderma, and collagen is a major extracellular matrix protein that deposits in the fibrotic organs. As the chaperone of collagen, heat shock protein 47 (HSP47) is closely related with the development of fibrosis. To explore the potential function of HSP47 in the pathogenesis of scleroderma, the clinical, in vivo and in vitro studies were performed. In clinical, the increased mRNA level of HSP47 was observed in the skin fibroblasts and PBMC from scleroderma patients, and the enhanced protein level of HSP47 was also detected in the skin biopsy and plasma of the above patients. Unexpectedly, the enhanced levels of HSP47 were positively correlated with the presence of anti-centromere antibody in scleroderma patients. Moreover, a high expression of HSP47 was found in the skin lesion of BLM-induced scleroderma mouse model. Further in vitro studies demonstrated that HSP47 knockdown could block the intracellular and extracellular collagen over-productions induced by exogenous TGF-β. Therefore, the results in this study provide direct evidence that HSP47 is involved in the pathogenesis of scleroderma. The high expression of HSP47 can be detected in the circulatory system of scleroderma patients, indicating that HSP47 may become a pathological marker to assess the progression of scleroderma, and also explain the systemic fibrosis of scleroderma. Meanwhile, collagen over-expression is blocked by HSP47 knockdown, suggesting the possibility that HSP47 can be a potential therapeutic target for scleroderma.

Carrier detection and prenatal diagnosis of hemophilia Alpha / 中华医学杂志(英文版)

<p><b>OBJECTIVE</b>To establish an effective laboratory examination system for carrier detection and prenatal diagnosis of haemophilia Alpha(HA) with a variety of molecular biological methods which are simple,rapid and easy to use.</p><p><b>METHODS</b>Detection of inversion involving intron 22 in the FVIII gene was completed by long distance polymerase chain reaction (PCR) and linkage analysis was performed by using several genetic polymorphisms including an intragenic Bcl I RFLP, 2 STRs and an extragenic St14 VNTR.</p><p><b>RESULTS</b>Intron 22 inversion was observed in 10 out of the 21 (47.6%) pedigrees examined. Prenatal diagnosis was completed in 3 pedigrees. A further combination of the four intragenic and extragenic polymorphic loci gave an informative rate of 94.7%.</p><p><b>CONCLUSIONS</b>Female relatives in HA families with inversion can be detected with direct diagnostic procedure. The application of long distance PCR makes the detection much more simple and rapid. For families without inversions,it is easier and more cost-effective to undertake linkage analysis of genetic polymorphism based on PCR.</p>

Identification of two novel mutation in two Chinese hereditary coagulation factor XIII deficiency families / 中华血液学杂志

<p><b>OBJECTIVE</b>To explore gene defect of hereditary coagulation factor XIII deficiency.</p><p><b>METHODS</b>PCR and gene sequencing or ARMS-PCR were used to detect the FXIIIA gene of peripheral white blood cell (PBC) from two Chinese hereditary coagulation factor XIII deficiency family members and 60 normal subjects respectively. The level of FXIIIA gene mRNA was tested by RT-PCR.</p><p><b>RESULTS</b>(1) Nucleotide sequence analysis of the two probands' and their family members' DNA revealed that all of the three patients had homozygous missense mutation in FXIII A subunit gene. Proband 1 had a C to G transition at nucleotide (nt) 1 241 in exon 10 and proband 2 and his sister a C to T transition at nt 232 in exon 3 of FXIII A gene, which resulted in the substitution of Ser413 with Trp and Arg 77 with Cys, respectively. Family study showed that the two mutations were inherited from the parents who were correspondingly heterozygotes at nt 1 241 or nt 232. (2) The two mutations were not found in the normal subjects. (3) The FXIIIA gene mRNA level in the two probands was a little decreasing.</p><p><b>CONCLUSION</b>It is the two novel mutations that results in FXIIIA deficiency. The two mutations of FXIIIA gene may affect its function or alter protein folding. The defective FXIII which is unstable and degraded rapidly in cytoplasm may be the main cause of FXIII deficiency.</p>

Molecular analysis of two pedigrees with hereditary F VII deficiency / 中华血液学杂志

<p><b>OBJECTIVE</b>To identify the mutation of coagulation factor VII (F VII) gene in two pedigrees with hereditary F VII deficiency.</p><p><b>METHODS</b>F VII gene mutations were analysed in two propositi and their family members by direct DNA sequencing. Allele specific PCR and PCR combined with restricted enzyme digestion were used to confirm the detected mutations.</p><p><b>RESULTS</b>Two gene mutations were detected in the propositus of pedigree A: G to C transition at position 6390 resulting in Trp40Cys and G to A at 11496 resulting in Arg353Gln, both are heterozygotes. The heterozygosity for polymorphism Arg353Gln was confirmed with the restriction enzyme Msp I digestion in his mother. In the propositus of pedigree B, there was a T to G transition at position 11482 resulting in His348Gln, heterozygosity of which was confirmed with Nsp I digestion in the propositus and his daughter. G to T transition at position 11514 resulting in Thr359Met was also found in the propositus of pedigree B, and the heterozygosity for Thr359Met was confirmed with allele specific PCR in the propositus and his son.</p><p><b>CONCLUSION</b>Three missense mutations were found in two pedigrees with hereditary F VII deficiency. A novel Trp40Cys mutation was reported for the first time.</p>

Preliminary experimental research on gene therapy for hemophilia A / 中华血液学杂志

<p><b>OBJECTIVE</b>To accomplish a kind of therapeutic gene for hemophilia A, and observe the expression of human factor VIII (hF VIII) in vivo.</p><p><b>METHODS</b>Human clotting factor VIII cDNA with B-domain deleted (Delta760aa approximately 1639aa) was inserted into vector pRC/RSV to form pRC/RSV-hF VIII BD, which conjugated with in vivo liposome transfection reagent (DOTAP-Cholesterol) to accomplish a kind of therapeutic gene, pRC/RSV-hF VIII BD-DOTAP-Cholesterol. Mice were injected with pRC/RSV-hF VIII BD-DOTAP-Cholesterol i.m. and sacrificed 48 hours, 10 days, 20 days, 30 days, 40 days and 50 days later, respectively. Tissues such as heart, liver, spleen, lung, kidney and muscle were harvested, the distribution and transcription as well as expression of hF VIII BD cDNA were detected by means of PCR, RT-PCR and immunohistochemistry techniques. In addition, the antigen and antibody of hF VIII in plasma were measured.</p><p><b>RESULTS</b>There was high expression of hF VIII in plasma and tissues at the 48(th) hour after injection. On day 10, antigen level of hF VIII in plasma reached its peak, 17.55 ng/ml, and gradually reduced later. The antibody of hF VIII in plasma emerged on day 10 after injection, and increased and gradually reached 37.06 U/ml on day 50 after injection. PCR, RT-PCR and immunohistochemistry showed that hF VIII BD cDNA and its transcription as well as expression existed in all kinds of tissues, and lasted longer in spleen, lungs and kidneys than in heart, liver and muscle.</p><p><b>CONCLUSION</b>Therapeutic gene, pRC/RSV-hF VIII BD-DOTAP-Cholesterol, produced by combination of pRC/RSV-hF VIII BD and DOTAP-Cholesterol liposome can express human F VIII successfully in vivo, which lays an experimental foundation for curing hemophilia A by gene-drug in clinic.</p>

Gene diagnosis of hemophilia B by multiple STR analysis / 中华血液学杂志

<p><b>OBJECTIVE</b>To establish a simple, rapid genetic diagnostic system for haemophilia B.</p><p><b>METHODS</b>The polymorphisms of eight STR loci in 87 normal persons and 8 haemophilia B families were assayed by PCR and genescan, and the linkage relations were analysed.</p><p><b>RESULTS</b>Six of the eight STR loci can provide genetic information for haemophilia B, and the heterozygosity is 0.50 approximately 0.83, PIC 0.39 approximately 0.80, and DP 0.66 approximately 0.94.</p><p><b>CONCLUSION</b>Combination of multiple STR loci analysis could be effective method for genetic diagnosis of haemophilia B.</p>

Study on plasma coagulation factor VII (FVII) levels and polymorphisms of FVII gene in patients with coronary heart disease / 中华血液学杂志

<p><b>OBJECTIVE</b>To investigate the plasma levels of coagulation factor VII (FVII) and polymorphisms of FVII gene in patients with coronary heart disease (CHD), and evaluate the effect of plasma FVII levels and FVII gene polymorphisms on CHD.</p><p><b>METHODS</b>Plasma FVIIa, FVII: Ag and FVIIc were measured and polymorphisms of FVII gene were analyzed in 149 control cases and 60 CHD cases, including 33 acute myocardial infarction (AMI) cases by a combination of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and agarose gel electrophoresis.</p><p><b>RESULTS</b>FVIIa, FVIIc in AMI group were significantly higher than that in control group, but FVII: Ag wasn't. There were no significant difference in plasma FVIIa, FVII: Ag and FVIIc between CHD and control group. The IVS7 genotypic frequency in AMI group was significantly different from that in control group. There was no significant difference in genotypic frequencies and allelic frequencies in other polymphism sites. FVII: Ag was significantly higher in -402A homozygote than that in -402G homozygote.</p><p><b>CONCLUSIONS</b>Increased FVII levels, especially FVIIa and FVIIc in plasma, may contribute to coronary artery thrombosis. There was significant difference in IVS7 genotype frequency between control and AMI groups, but the rest weren't significantly different. FVII: Ag was significantly higher in -402A homozygote than that in -402G homozygote. Polymorphism of -402 G/A may play an indirect role in AMI by regulating plasma FVII levels.</p>

In vitro expression of human factor VIII gene induced by sodium butyrate / 中华血液学杂志

<p><b>OBJECTIVE</b>To explore the effect and mechanism of sodium butyrate on expression of human clotting factor VIII in vitro.</p><p><b>METHODS</b>Mouse NIH/3T3 cell line was transfected with recombinant plasmid vector pRC/RSV-BDD-hFVIII, which enclosed B-domain deleted (760aa approximately 1 639aa) human factor VIII cDNA (BDD-hFVIII cDNA). Then cells were incubated in Dulbecco's modification of Eagle's medium (DMEM) containing sodium butyrate for 24 hours, hFVIII: C and hFVIII: Ag in the cell culture medium were measured by ELISA assay and one-stage method, respectively. In addition, the effect of sodium butyrate on transcription of cDNA encoding the whole hFVIII, heavy and light chain of hFVIII was also investigated by means of run-on assay.</p><p><b>RESULTS</b>After stimulation of sodium butyrate, the levels of hFVIII: C and hFVIII: Ag increased 70% than those of control. Run-on assay showed that sodium butyrate enhanced the transcription of cDNA which encoded heavy chain of hFVIII.</p><p><b>CONCLUSION</b>Sodium butyrate can improve the expression of hFVIII through enhancing the transcription of hFVIII heavy chain encoding cDNA. It demonstrated that sodium butyrate had potential utility in inducing the expression of hFVIII in vitro.</p>