Objective To report two cases of Nagashima-type palmoplantar keratoderma(NPPK), and to identify mutations in the SERPINB7 gene. Methods Clinical data were collected from two patients with NPPK and their parents, and peripheral blood samples were obtained from the two patients, their parents and 200 unrelated healthy controls. Genomic DNA was extracted from these blood samples. PCR was performed to amplify 8 exons and their flanking sequences of the SERPINB7 gene followed by DNA sequencing. Results A homozygous mutation (c.796C > T), which led to the formation of a premature termination codon at amino acid position 266 (p.R266*), was identified in both of the two patients. However, the patients′ healthy parents were heterozygous carriers of the mutation(c.796C > T). No mutation was found in the unrelated healthy controls. Conclusion The mutation c.796C > T in the SERPINB7 gene may be responsible for NPPK in the two patients.

Objective To predict the binding sites of transforming growth factor-βreceptor Ⅱ (TβRⅡ ) ectodomain and the aptamer S58 specifically targeted TβRⅡ ,and to confirm the structure stability of the aptamer S 58 in vitro .Methods We created three-dimensional structure by utilizing ssDNA aptamer sequences ,the crystal structure of the TβRⅡ was searched by protein data bank database .According to the results of the molecular docking experiments on aptamer S 58 and TβRⅡ ectodomain ,we sheared the aptamer sequences ,then verified its affinity respectively by biosensor technology and Western blot .Results Binding sites of aptamers S58 and TRβⅡ ectodomain included site Ⅰ(T4 ,T5 ,G6 ,C7) ,site Ⅱ(G13 ,A14 ,T15 ,C16 ,G17 ,C18 ) ,site Ⅲ (T31 ,G32 , T33 ,C34) and site Ⅳ(G40 ,A41 ,T42 ,T43 ,T44 ,G45 ,G46) .We validated the high affinity between aptamer S58 and TRβⅡ ectodo-main .The expression of α-smooth muscle actin(α-SMA) protein in the human tenon′s capsule fibroblasts was descended obviously after the experiment of the aptamer S58 in comparing with the control of DMEM (P< 0 .05) .But the new ssDNA by shear the aptamer ssDNA S58 according to the results were poor than aptamers S58 .Conclusion The aptamer S58 targeted TβRⅡ was high-ly specific with a certain stability ,any changing of structure will reduce the affinity of TβRⅡ .Computer-aided molecular docking technology has become an important means of an exploratory intermolecular interaction ,and can provides a good theoretical basis on medical research .

ObjectiveThe aim of this study was to evaluate and compare the surgical outcomes of endoscop ic and conventional open thyroidectomies in patients with thyroid disease.Methods116 patients with tyroid tumor were enrolled.56 patients underwent endoscopic thyroidectomy ( endoscopic group ),and 60 patients underwent conventional open thyroidectomy( conventional group).We analyzed the patients' clinic characteristics,surgical outcomes and complications between the two groups.ResultsThe blood loss was less in the endoscopic group than the open group[( 16.8 ± 9.6) ml vs ( 24.9 ± 14.2 ) ml,t =- 2.427,P ＜ 0.05].The degree of satisfaction for cosmetic outcome in endoscopy group( 96.4％ ) was higher than that in conventional group ( 16.7％ ) ( x2 =74.508,P ＜ 0.01 ).There was no significant difference in the operating time,volume of drainage and postoperative hospital stay between two groups,and there was no significant difference in the skin ecchymosis,redness and swelling and postoperative pain between two groups( all P ＞ 0.05).No severe postoperative complication was encountered,such as injuries of the re current or superior laryngeal nerve,parathyroid gland injury or massive hemorrhage.ConclusionEndoscopic thyroidectomy has less blood loss,mini-open and excellent cosmetic benefits compared with conventional open thyroidectomy.

Objective To investigate the iodine nutrition level of the vulnerable population in the high risk region of iodine deficiency disorders for providing a scientific basis for the development of effective preventive measures in Qinghai province. Methods The non-iodized salt coverage rate ＞ 5％ of Delingha city, the coverage rate of iodized salt and the rate of qualified iodized salt ≤80％ of Jiuzhi, Wulan, Nangqian, Zaduo, Geermu,Yushu, Gande, Chengduo, and Dulan counties(cities), the median of urinary iodine ＜ 100 μg/L of Huangyuan county of 11 areas were chosen as monitoring area in 2009. Five townships(towns) were selected by their location of east, west, south, north and center in each county (city), and one school was selected in each township (town),and 60 household salt samples were collected in each school, and quantitatively determined by direct titration of iodine(GB/T 13025.7-1999). Three townships(towns) were selected in each county(city), and two schools were selected in each township(town). The content of urinary iodine of 40 children aged 8 - 10 and 20 women of childbearing age aged 18 - 40 was analyzed by As3+-Ce4+ catalytic spectrophotometry (WS/T 107-2006). ResultsThree thousand two hundred and sixty-one edible salt samples were tested. The coverage rate of iodized salt was 79.88％.The iodized salt qualification rate was 95.16％. The qualified iodized salt consumption rate was 76.02％. The noniodized salt coverage rate was 20.12％. In Nangqian, Zaduo, Yushu and Geermu counties(cities), the non-iodized salt coverage rate was 88.89％, 45.05％, 43.00％ and 12.67％, respectively. The median of urine iodine of 2536 children aged 8 - 10 was 155.8 μg/L, with ≤50 μg/L about 13.6％ (346/2536), ＞ 100 μg/L about 67.5％(1711/2536), and it was 75.1, 94.6 μg/L in Nangqian and Zaduo counties, respectively. The median of urine iodine of 665 women of childbearing age was 129.7 μg/L, with ≤50 μg/L about 22.7％(151/665), ＞ 100 μg/L about 59.2％(394/665), and it was 21.0, 54.7, 72.7 μg/L in Zaduo, Nangqian and Chengduo counties, respectively.Conclusions Insufficient intake of iodine exits in children and women of childbearing age in high risk region of iodine deficiency disorders in Qinghai province, which should be corrected as soon as possible.

Objective To present the experience in surgical treatment method and clinic application of axillary tuberculous lymphadenitis in infant.and discuss its etiology.Methods From 1995 to 2003, axillary tuberculous lymphadenitis mass in 14 hospitalized cases were resectioned.Results The incision healing was better in 3 cases of regional lymphadenectomy and 11 cases of axillary lyphoidectomy.The tuberculous lymphadenitis was not relapse during patients were followed-up.All discharge patients were not suffer from extrapulmonary and intrapulmonary tuberculosis.Conclusions The prompt regional lymphadenectomy and axillary lyphoidectomy are preferred to axillary tuberculous lymphadenitis and suspicious tuberculous lymphadenitis.It is effective to avoid the patients suffering from tuberculosis in other organs of human body and eliminate antituberculous drugs lesion to important organs of body.

Objective To evaluate the roles of Toll-like receptor 2 (TLR2),TLR4 and myeloid differentiation factor 88 (MyD88) in immune recognition and immune mediation in sporotrichosis by detecting their expressions in skin lesions of sporotrichosis.Methods Biopsy specimens were obtained from the skin lesions of 19 patients with sporotrichosis and normal skin of 12 healthy human controls.Immunohistochemistry was performed to observe the expressions of TLR4 and MyD88,and real-time fluorescence-based quantitative PCR to quantify the expressions of TLR2 and MyD88 mRNAs.Data were expressed as mean ± standard error.Statistical analysis was done with the SPSS17.0 software.Independent samples t-test was conducted to compare the parameters between the lesional and control specimens.A p-value of less than 0.05 was considered to be statistically significant.Results TLR4 and MyD88 were mainly observed in the whole epidermis except the stratum corneum as well as plasma cells and lymphocytes in the dermis and subcutaneous tissue in lesional skin.However,TLR4 was nearly absent and MyD88 was weakly expressed in the dermis and subcutaneous tissue in normal skin.The expression levels of TLR4 and MyD88 were significantly higher in the lesional skin than in the control skin (TLR4,63.767 ± 3.829 vs.5.167 ± 3.246,t =4.82,P ＜ 0.05; MyD88,57.236 ± 4.744 vs.10.588 ± 1.640,t =3.30,P ＜ 0.05).Similarly,the lesional skin showed significantly stronger expressions of TLR2 and MyD88 mRNAs compared with the normal skin (TLR2,1.974 ± 1.452 vs.1.430 ± 1.073,P ＜ 0.05; MyD88,2.028 ± 2.061 vs.0.688 ± 0.422,P ＜ 0.05).Conclusion Sporothrix may induce the development of sporotrichosis by interacting with host immune system via TLR signaling pathways.

OBJECTIVETo explore the distribution of cytomegalovirus (CMV) in vascular tissues and the relationship between virus and atherosclerogenesis after CMV infecting mice.

METHODS(1) C57 BL/6J Murine model of CMV infection was established by intraperitoneal injection of CMV lethiferous amount. (2) After 12 weeks of CMV infection, the sera, carotids, aorta, hearts and postcaval veins from the mice were collected under euthanasia. The tissues would be used to DNA extraction, PCR and pathological examination. (3) Interleukin-6 (IL-6) and monocyte chemotactic protein-1 (MCP-1) in serum were measured with ILELISA.

RESULTS(1) The typical pathologic feature in 2 aorta samples of 6 mice infected by CMV was found and the mice uninfected by CMV did not show any pathologic change. (2) CMV DNA appeared in 6 aorta, 6 postcaval veins, 4 carotids and 4 heart tissues including endocardium, cardiac muscle and coronary artery from the CMV infected mice. CMV DNA was not found in the vascular and heart tissues from 6 mice uninfected by CMV. (3) The ELISA test showed the significant difference (Mann-Witney test of Nonparametric Test, P < 0.05) in serum IL-6 (Median among 25% and 75% percentile: 113.7 pg/ml vs. 49.77 pg/ml) and MCP-1 (Median among 25% and 75% percentile: 128.7 pg/ml vs. 45.36 pg/ml) between CMV infected mice and uninfected mice.

CONCLUSIONCardiovascular cells are CMV latent reservoir in host body and CMV infection and the cytokines induced by CMV infection probably relate to atherosclerogenesis.

Animals ; Atherosclerosis ; immunology ; pathology ; virology ; Blood Vessels ; immunology ; pathology ; virology ; Coronary Vessels ; immunology ; pathology ; virology ; Cytokines ; immunology ; Cytomegalovirus ; genetics ; isolation & purification ; Cytomegalovirus Infections ; immunology ; pathology ; virology ; DNA, Viral ; genetics ; Disease Models, Animal ; Female ; Heart ; virology ; Humans ; Mice ; Mice, Inbred C57BL ; Random Allocation

Animals ; Brain-Derived Neurotrophic Factor ; Depression/drug therapy* ; Fluoxetine ; Mice ; Stress, Psychological ; Transcranial Magnetic Stimulation

Humans ; Liver Failure ; mortality ; Portasystemic Shunt, Transjugular Intrahepatic ; mortality ; Survival Rate

Objective:To investigate the aberrant methylation of CpG island in 5′promoter region of p16 gene in the pancreatic juice and its value in diagnosis of patients with pancreatic cancer.Methods:Pure pancreatic juice(PPJ)was collected from the pancreatic duct by a nasopancreatic tube put under endoscopic retrograde cholangiopancreatography(ERCP). Cytological examination was performed by H-E staining in pure pancreatic juice.Aberrant p16 methylation was detected using the methylation specific PCR(MSP)in the PPJ.Results:The sensitivity,specificity,positive predictive value,negative predictive value and accuracy cytological examination in diagnosis of pancreatic cancer were 40%,100%,100%,45.4% and 60.0%,respectively.The DNA sequences were successfully extracted from the PPJ of 30 patients with pancreatic diseases and were subjected to MSP.Seven(35%)of the 20 cases with pancreatic cancer showed aberrant methylation of p16 gene.No aberrant methylation was detected in the pancreatic juice samples of patients with chronic pancreatitis and mucinous cystoadenocarcinoma of pancreas.When cytological examination combined with p16 methylation detection,the sensitivity, specificity,positive predictive value,negative predictive value and accuracy for diagnosis of pancreatic cancer were 55%,100%, 100%,52.6% and 70%,respectively.Conclusion:Pancreatic juice collected by nasopancreatic drainage during ERCP can be used for molecular analysis.Detection of aberrant methylation of p16 gene in pancreatic juice combined with cytological examination is a better method for diagnosis of pancreatic cancer.