This paper reported a sporadic case of a 29-year-old Han female diagnosed with tuberous sclerosis complex (TSC) by next generation sequencing (NGS),one of genetic analysis techniques.She was admitted because of recurrent intractable seizure for 26 years,dizziness and headache for 3 months.Physical examination revealed angiofibromas over her face,shagreen patches in her lower back area,and hypomelanotic macules around her limbs and body.Cranial MRI manifested lesions on lateral ventricles,cerebellar vermis and left temporal lobe with abnormal signal changes on both sides of extensive cerebral cortex.A pathogenic and heterozygous missense mutation,c.T1967C,in exon 16 of her TSC1 gene was found via genetic tests,which has not yet been reported before.

Animals ; Body Water ; Brain ; anatomy & histology ; Male ; Organ Size ; Rats ; Rats, Wistar ; Specific Gravity

Objective To explore the executive function in clinical subtypes of attention deficit hyperac?tivity disorder( ADHD) . Methods 19 children with ADHD/ inattentive type( ADHD?I) ,13children with ADHD/hyperactive?impulsive( ADHD?HI) 33 children with ADHD/combined type ( ADHD?C ) and 30 normal children were tested by Stroop test ( included Stroop C and Stroop CW) ,modified Wisconsin card sorting test( M?WCST) , tower of Hanoi,digital span and verbal fluency. Results The scores of Stroop C and Stroop CW,digit inverse reci?ting,tower of Hanoi and WCST in the children with ADHD were worse than those in normal control((104.8±4.0), (105.9±4.2),(104.8±3.7),(104.8±4.0), P<0.05;(84.0±9.2),(84.8±7.9),(78.2±7.8),(92.2±7.1), P<0.01;(4.0±1.8),(3.7±1.2),(3.8±1.5),(5.1±1.6), P<0.01;(3.0±1.0),(3.3±1.0),(2.7±1.3),(3.8±1.3), P<0.01;(4.1±1.6),(4.2±1.9),(4.3±2.1),(5.4±1.7), P<0.05;(6.6±3.2),(6.7±2.4),(8.0±2.9),(5.3± 2.4), P<0.01;(10.2±2.8),(11.1±3.8),(12.3±4.0),(9.4±3.2), P<0.05). The scores of Stroop CW in the chil?dren with ADHD?C were worse than those in other two subtypes(P<0.01). Conclusion The executive functions of the chil?dren with ADHD are impaired,including poor response inhibition,working memory,planning and cognitive flexibility. The dysfunction of response inhibition is possible an index to discriminate the subtypes of ADHD.

Background:Helicobacter pylori( Hp)is listed as Group 1 human carcinogen. Transcription factor FOX family plays important role in the development of tumor,and FOXA1 is a key target transcription factor of some microRNAs( miRNAs). Aims:To investigate the relationship of Hp infection with expression of FOXA1 in gastric mucosal tissues. Methods:Eighty patients undergone gastroscopy from Jan. 2014 Sept. 2014 were enrolled. Hp infection was detected by 14 C-urease breath test( 14 C-UBT),modified Giemsa staining and bacterial culture. Expression of FOXA1 in gastric mucosal tissues was determined by immunohistochemical SP method. Results:FOXA1 expression in Hp positive tissues was significantly higher than that in Hp negative tissues(73. 8% vs. 47. 4%;χ2 =4. 81,P<0. 05). Conclusions:High expression of FOXA1 in gastric mucosal tissues suggests that miRNAs pathway may be one of the molecular mechanisms of Hp infection leading to gastric intraepithelial neoplasia even gastric cancer.

Objective To investigate the value of plasma troponin ,B-type natriuretic peptide and D-dimer in the clinical diagnosis of acute pulmonary embolism .Methods A total of 116 patients with acute pulmonary embolism were randomly selected and divided into high-risk group and low-risk group according to the patient′s condition ,58 patients in each group .Enzyme-linked immunosor-bent assay was used to detected levels of plasma troponin ,B-type natriuretic peptide and D-dimer .Results The plasma troponin and B-type natriuretic peptide levels in the high-risk group were significant higher than those of the low-risk group(P<0 .05) ,but there was no significant difference on D-dimer level(P>0 .05) .The positive rate of plasma troponin(61 .21% )and B-type natriuretic pep-tide(74 .14% )were significant higher than that of D-dimer(36 .21% ) ,the differences were significant(P<0 .05) .The sensitivity of D-dimer was 81 .4 % ,specificity was 86 .7% .The sensitivity of plasma troponin was 95 .6% ,the specificity was 86 .7% .The sensi-tivity of B-type natriuretic peptide was 97 .1% ,the specificity was 95 .9% .The sensitivity and specificity of plasma troponin and B-type natriuretic peptide were significant higher than D-dimer(P<0 .05) .Conclusion Plasma troponin ,B-type natriuretic peptide and D-dimer have certain implications for the clinical diagnosis of acute pulmonary embolism ,but plasma troponin ,B-type natriuretic peptide has better sensitivity and specificity compared with D-dimer .

Objective To evaluate the clinical effects of platelet-rich plasma in treatment of DeepⅡburn wounds. Methods Sixty eight cases of inpatients with Deep Ⅱburns were selected, whose age were from 1 to 65 years and their burn areas were between 5%~62%of total body surface area (TBSA). Deep gradeⅡburn of each sample was divided into two parts. Part A was the treatment group and part B was the control group.The burn wounds in the treatment group were treated with platelet-rich plasma and the counterpart in the control group were treated with SD-Ag. Healing time ,recovering rate and the frequency of dressing changes,frequency of changing the most innerlayer gauze and the rate of wound infection were also analyzed. Finally the laboratory abnormalities and adverse effect were monitored regularly. Results The healing time of the treatment group (16.5±3.1 ) d was shorter than that of the control group (19.5±3.8 ) d. The recovering rate of the treatment group was higher than that of the control group on the 14th and 17th day after treatment. There were statistically sig?nificant differences between these two groups (P<0.05). After two weeks’treatment, the internal and external dressing per?meability into wet gauze layers were 20.6 ± 1.7, which were significantly decreased than that in the control group 23.3 ± 5.9. The frequency of dressing changes was(7.2±1.1)times in treatment group versus(9.2±1.4)times in control group and the frequency of changing the inner most layer gauze was( 2.3±0.6)times in the treatment group versus(5.3±1.3)times in con?trol group. There were 5 inflammation reaction cases in the treatment group, but 13 cases in the control group. However, there was no statistic significance between the two group in the outcomes of bacterial culture, the laboratory abnormalities and the adverse effect. Conclusion Platelet-rich plasma can remarkably shorten the healing time,improve healing rate,re?duce frequency of dressing change and promote wound healing for deepⅡburn wound. PRP is a potential safety reagent in treating deepⅡburn wound.

Objective To explore the correlation of E-cadherin expression and the sensitivity to EGFR-TKI molecular targeted therapy. Methods Eight kinds of cells,MCF-7,MDA-MB-231,T24,SiHa,H460,SK-HEP-1,MHCC97-H and THP-1 were treated with EGFR-TKI PD153035 and gefitinib,respectively,for 48 hours. The drug-sensitivity was detected by MTT,and the IC50 of cells were calculated. The E-cadherin protein were detected and compared. Results Followed with PD153035 and gefitinib treatment,the survival rates of MCF-7,MDA-MB-231,T24 and SiHa significantly reduced,and more E-cadherin protein expressed. However, the survival rates of the H460, SK-HEP-1, MHCC97-H, and THP-1 cells showed opposite results. Conclusion The sensitivity of epithelial cancer cells to EGFR-TKI is correlated with E-cadherin expression. E-cadherin may play a significant role on regulateing the sensitivity to EGFR-TKI molecular targeted therapy. E-cadherin is a key biomarker for recruiting appropriate patients for EGFR-TKI molecular targeted therapy.

Objective To investigate the effect of the Kolb experience learning theory applied in Surgical Nursing teaching.Methods 120 students were selected randomly and were divided into 2 groups,the observation group operated the teaching mode based on the Kolb experience learning theory,the control group operated traditional teaching.After the experiment,using the theory test,the skill test,the questionnaire survey to evaluate the teaching effectiveness.Results The two groups showed statistical difference in theory exam results,learning effect of each dimension and evaluation of teaching effect.Conclusions The teaching mode based on the Kolb experience learning theory can improve the students' interest in learning and study effect,and push forward the reform of teaching implementatiou.

Objective To establish a cellular model for the expression of the C-type lectin dendritic cellspecific intercellular adhesion molecule-3-grabbing non-integrin (DC-SIGN),and to provide a basis for the functional analysis of DC-SIGN.Methods The cDNA of DC-SIGN was obtained via PCR,and cloned into the eukaryotic expression vector porcine cytomegalovirus-enhanced green fluorescent protein (PCMV-EGFP) with EGFP at the N terminal of DC-SIGN.Then,the recombinant PCMV-EGFP-DC-SIGN plasmid was transfected into HEK293T cells followed by the detection of DC-SIGN expression using PCR,Western blot and flow cytometry.Confocal microscopy was performed to localize the expression of DC-SIGN-EGFP and visualize the recognization and internalization of the Derp2 allergen by DC-SIGN.Results The recombinant fluorescent fusion protein-expressing plasmid was successfully constructed.Both PCR and Western blot confirmed the expression of DC-SIGN.Flow cytometry showed that the expression of DC-SIGN was increased by approximately 50％ in HEK293T cells transfected with the recombinant expression plasmid compared with those untransfected.As confocal microscopy showed,the green fluorescence-labelled DC-SIGN was located on the cell membrane,which could bind to the red fluorescence-labelled antigen Derp2 and internalize it into the cells.Conclusions The recombinant DC-SIGN-EGFP fusion protein is characteristically located on the surface of 293T cells,which can be recognized by the DC-SIGN-specific antibody and is capable of internalizing the allergen Derp2,and may serve as an ideal cell model for further studies on molecular function of DC-SIGN.

Objective To synthesize herpes simplex virus (HSV) envelope glycoprotein gC using gene engineering techniques,and to verify its expression.Methods Two separate parts of the HSV envelope glycoprotein gC,i.e.,GC-F and GC-R,were respectively synthesized.The GC-F and GC-R genes were synthesized,subcloned into the expression vectors pSumo-Mut (containing recognition sequences for endonucleases Stu1 and XhoI) and pCzn1 (containing recognition sequences for endonucleases NdeI and XhoI) respectively to form the recombinant plasmids pSumo-Mut-GC-F and pCzn1-GC-R.E.coli BL21 Arctic Express (DE3) cells were transformed with the two recombinant plasmids separately.Isopropyl thiogalactoside (IPTG) was used to induce the expression of target protein which was subsequently purified by nickel affinity chromatography.Finally,Western blot was performed to verify the reactivity of the synthesized protein with the sera of HSV-1-positive patients.Results Both GC-F and GC-R genes were synthesized by a total gene synthesis method.As sodium dodecyl sulfate polyacrylamide gel electropheresis (SDS-PAGE) showed,the fusion proteins were mainly distributed in the sediment layer.The purity of GC-F and GC-R proteins was over 80％ after purification by affinity chromatography.Western blot showed that both of the proteins were reactive with anti-HSV-1 antibody-positive sera.Conclusions Fusion expression vectors have been constructed for the gC protein,and IPTG successfully induces its expression.Moreover,the resulting proteins could react with anti-HSV-1 antibody-positive sera,and may serve as an ideal experimental material for next functional study.