Objective To report the clinical manifestation and gene mutation of congenital insensitivity to pain with anhidrosis (CIPA) in two patients from one family. Methods The data of clinical manifestation, laboratory examination, and family history of two patients were collected. The peripheral blood of patients and their parents were collected. Neurotrophic tyrosine kinase receptor type 1 (NTRK 1 ) gene was detected directly by Sanger method, the pathogenicity of the mutation in the gene was analyzed by bioinformatics. Results Both of patients were female and mainly suffered with reduplicated non-infectious fever, anhidrosis, insensitive to pain, and mental retardation. The proband had fracture many times after minor injury. The ninth exon of NTRK 1 genes in the proband and her younger sister were found to have heterozygous mutations, c. 851-33 T>A, as previously reported. Meanwhile, there was also found a new mutation, c. 1711 G>A (p.G 571 S), in thirteenth exon of NTRK 1 genes in these two patients. It was predicted to be a harmful mutation by bioinformatics and the mutation site is conservative. Their father and mother were found carrying the c. 851-33 T>A and c. 1711 G>A mutations respectively. Conclusion Both patients had typical clinical manifestations. And the newly discovered p.G 571 S mutation expands the mutation spectrum of NTRK 1 gene.

Objective To investigate the effects of different surgical procedures on clinical outcomes and quality of life(QOL)in patients with breast cancer.Methods The clinical data of 93 patients with breast cancer were retrospectively reviewed.According to the different surgical methods,they were divided into two groups:breast conserving surgery(BCS)group(n =42)and modified radical mastectomy(MRM)group(n =51).Clinical outcomes and QOL score between the two groups were compared.Results Compared with MRM group,the incidence rate of complication in BCS group was significantly lower in subcutaneous exudate[7.1%(3 /42)vs.25.5%(13 /51),χ2 =5.443,P =0.020]and upper limb swelling[14.3%(6 /42)vs.37.3%(19 /51),χ2 =5.443,P =0.020].In the aspect of QOL score,BCS group showed significantly higher score in emotional well -being [(23.14 ±2.71)points vs.(19.98 ±2.69)points,t =5.606,P =0.000],functional well -being[(24.61 ±2.72)points vs.(23.18 ± 2.99)points,t =2.372,P =0.020]and total score of QOL[(116.42 ±12.439)points vs.(111.18 ±10.75)points, t =2.147,P =0.034].BCS group showed significantly lower score in self -rating anxiety scale test[(47.89 ±8.32) points vs.(52.46 ±7.38)points,t =2.767,P =0.007].Conclusion Compared with MRM,BCS can effectively decrease the incidence rate of complications and increase the QOL in breast cancer patients.

Objective To evaluate the effect of an Internet support program on uncertainty in illness in breast cancer patients after operation. Method One hundred and nineteen breast cancer patients after surgery who were discharged from Shanghai Cancer Hospital were assigned into the control group (63 cases) and the intervention group (56 cases). A 12-week Internet support program was offered to the patients in the intervention group, while the patients in the control group received the routine follow-up. Measurement of uncertainty in illness was taken at the sixth week and the twelfth week after the baseline survey. Results The total score of the uncertainty in illness as well as the factor scores of ambiguity and lack of information showed downward trend in both the intervention group and the control group, and the three indexes in the intervention group declined more rapidly than those in the control group. The scores of the three indexes in the intervention group were significantly lower than those in the control group at the twelfth week. Conclusion The Internet support program which offers abundant information, multi-disciplinary cooperation and real-time interaction intervention is an effective approach in reducing uncertainty in illness for breast cancer survivors.

Objective To explore the changes ofT lymphocyte subsets CD3+,CD4+,CD8+ in hepatitis B reactivation after chemotherapy.Methods Flow cytometry was used to detect T lymphocyte subsets of 32 patients with hepatitis B reactivation before and after chemotherapy.In addition,25 patients without hepatitis B reactivition were chosen as control group.Results After chemotherapy,the percentage of CD3+ and CD4+ T lymphocytes and the ratio of CD4+/CDs+ were significantly reduced than those before chemotherapy (P ＜ 0.05).However,the percentage of CD8+ T lymphocytes was not significantly changed(P ＞ 0.05).Conclusion The chemotherapy can change the number and ratio of T lymphocyte subsets,the inhibition of the cellular immune function is one of the reason of hepatitis B virus reactivation.

Objective To search a better novae biomaterial applied to guide bone regeneration for promoting the healing of acute bone trauma by the experimental study of Haversian remodeling.Method Circular bone defects of 5mm diameter were created in tibias and the corners of mandibles in 36 rabbits.The defects were covered with calcium alginate film (CAF) in the experimental group, collagen membrane (CM)and no membrane (blank) in the control groups respectively. Healing conditions were analyzed using gross inspection, and histological and immunohistochemical studies after 1, 2, 4, 6 and 8 weeks respectively.Results The experimental group appeared more and earlier Haversian remodeling with osteoinductive factors leading to better bone regeneration. The control groups showed more macrophages with CM absorbed slowly, weak and delayed Haversian remodeling, and less osteoinductive factors ( P ＜ 0.05) in the early stage.Conclusions Calcium alginate film, as a relatively cheaper biomaterial, provided better effect than the collagen membrane on guided bone regeneration, because of its better Haversian remodeling and more content of osteoinductive factors shown in this experiment.

Objective To investigate the clinical effects of fenofibrate and polyene phosphatidylcholine in treatment of non-alcoholic fatty liver disease.Methods 86 patients with non-alcoholic fatty liver disease were randomly divided into two groups.45 cases in therapy group received 0.2g of fenofibrate once a day,and the others in control group received 456mg of polyene phosphatidylcholine for three times per day.All of the patients were treated for 12 weeks.Liver function,blood fat,clinical effect and liver B ultrasonic were analyzed before treatment and after 12 weeks.Results The improvement of liver function,blood fat,and liver ultrasonic imaging in therapy group was better than that in the control group.The cure rate was 82.2％ in therapy group and 63.4％ in control group.There was a statistical significance between the two groups ( x2 =3.874,P ＜ 0.05).Conclusion Fenofibrate had significant therapeutic effect in treatment of non-alcoholic fatty liver disease with lower costs and lower side effects.

Objective To investigate the relationship between hepatitis B virus reactivation and the level of blood T-lymphocyte subsets.Methods T lymphocyte subsets ( CD3,CD4,CDs ),CD4/CDs level of 40 patients with chronic carriers of hepatitis B virus and 35 patients with hepatitis B virus re-activation were detected by Flow cytometry(Epics XL).Results The hepatitis B virus reactivation in patients with CD3,CD4 and CD4/CDs levels were significantly lower than the chronic hepatitis B virus carriers,The difference between the two groups patients was significant[(71.31 ±5.20)％ vs (68.57 ±6.10)％,(37.82 ±4.90)％ vs (32.12 ±5.93)％,(1.37 ±0.28) vs (1.18 ±0.43 ),all P ＜ 0.05].Conclusion The levels of CD3,CD4 and CD4/CD8 ratio were significantly declined,it may be the one important reason of hepatitis B virus reactivation.

Objective To detect circulating CD4 + CD25 + regulatory T cells (Treg) and Toll-like receptor(TLR)2 and TLR4 expression on the peripheral blood mononuclear cells (PBMCs) of patients with HBV-related liver cirrhosis (LC), and to explore the correlation between them. Methods PBMCs isolated from 30 LC patients, 21 chronic hepatitis B (CHB) patients and 16 normal controls(NC) were stained with fluorescent labeling anti-TLR2-PE, anti-TLR4-APC, anti-CD14-FITC monoclonal antibodies and anti-CD4-PerCP, anti-CD25-FITC, anti-CD127-PE. Samples were detected by flow cytometry. Statistic analysis be-tween groups was performed by Kruskal-Wallis H test. Spearman rank correlation was used to analyze the correlation of Treg and TLR2, TLR4. Results The expression of TLR2 and TLR4 were significantly up-reg-ulated in patients with LC than those in the controls (TLR2 : 200.3 ± 96.8 vs 94.1 ± 17.6, P < 0.05 ; TLR4:32.1 ±7.2 vs 17.8 ±3.9, P<0.05). The expression of TLR4 was significantly increased in pa-tients with LC than those in patients with CHB (TLR4 : 32. 1 ± 7.2 vs 25.2 ± 8.3, P < 0.05), but there were no differences of TLR2 expression between LC and CHB(200.3 ± 96.8 vs 214.0 ± 72.6, P > 0.05). Treg/CD4+ T cells were 5.07% ±1.43%, 5.88% ±1.66%, 4.21% ±1.24% in patients with LC, CHB and NC, respectively. Treg/CD4+ T cells were significantly increased in patients with CHB than those in pa-tients with NC(P<0. 05) and LC(P <0.05), but there were no differences between LC and NC(P > 0.05). TLR4 expression and Treg were positive correlation (r = 0. 469, P = 0. 032) and TLB2 expression were negative correlation in patients with LC (r = -0.428, P = 0.021). Conclusion The expression of TLR2 and TLR4 were up-regulated on PBMCs in patients with LC. It seems to be expression of TLR2 and TLR4 in-volved in the pathogenesis of LC.

Objective To research the tourniquet effect on cement mantle thickness in total knee arthroplasty.Methods From June 2013 to June 2014,112 cases of patients were received total knee arthroplasty in the First People's Hospital of Foshan and 94 cases of which received primary operation,82 cases were recruited of the research and randomly divided into experimental group(n=41) without tourniquet and control group(n =41)with tourniquet.The radiological cement mantle thickness was evaluated postoperatively in 2 zones (tibia) on anteroposterior and 4 zones (tibia 2;femur 2) on lateral radiographs,and values were cumulated.Additionally,the calculated blood loss,haemoglobin loss,blood transfusion rate,average transfusion volume,VAS pain score,arc of motion,swelling,ecchymosis and micro thrombus in venules were recorded.Results The study showed that (3.57± 0.62) mm on without tourniquet group and(3.74 ±0.71)mm on tourniquet group in tibia (P=0.240).However,the cement mantle thickness of mm on without tourniquet group(2.00±0.43) mm on tourniquet group(2.19±0.48) in femur (P=0.053),there was no statistically significant difference between two groups.The tourniquet group were reduced on the calculated blood loss,haemoglobin loss,blood transfusion rate and average transfusion volume compared with without tourniquet group(P＜0.05).But VAS pain score,arc of motion,swelling,ecchymosis and micro thrombus in venules were slightly increased in tourniquet group compared with without tourniquet group (P＜0.05).Conclusion The use of a tourniquet in total knee arthroplasty can reduce the calculated blood loss,haemoglobin loss,blood transfusion rate,average transfusion volume,but without using a tourniquet has a better clinical results.

Objective To construct pEGFP-C1-HSP27 recombinant eukaryotic expression vector and establish human pancreatic cancer SW1990 cell line stably expressing HSP27.Methods RT-PCR was applied to amplify human HSP27 cDNA from human pancreatic cancer SW1990 cells with a pair of specific primers carrying a restriction enzyme site BamH Ⅰ or Hind Ⅲ on each 5' end.HSP27 cDNA was inserted into pEGFP-C1 vector and then identified by restriction enzyme digestion and sequencing.Successful constructed pEGFP-C1-HSP27 or empty vector was transfected into SW1990 cells by lipofectamine 2000,respectively.The location of HSP72 was determined by fluoroscopy,RT-PCR and Western blot was used to detect the expression of HSP27 in transfected cell.Results The DNA sequence of pEGFP-C1-HSP27 recombinant plasmid was completely correct,and it was successfully transfected into SW1990 cell lines and stably transfected SW1990 cell lines were obtained,which were confirmed by restriction enzyme and sequencing.The expression of EGFP was distributed in cytoplasm,the HSP27mRNA expression was significantly increased (1.458 ± 0.160vs0.897 ±0.051,P ＜0.05).In addition,it was showed that EGFP-HSP27 fusion protein was expressed.Conclusions The eukaryotic expression vector pEGFP-C1-HSP27 was constructed successfully and stably transfected SW1990 cell line expressing HSP27 was obtained.