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 distribution and antimicrobial resistance among clinical isolates of Acinetobacter baumannii(ABA) from July 1 to Dect 31 2007 in Haidian Hospital of Beijing.METHODS A retrospective study on clinical distribution and antimicrobial resistance of 22 antibiotics to ABA was undertaken.RESULTS ABA frequently detected out in phlegm specimen with the detection rate of 86.4%.The drug-resistance to SCF and AMK was the lowest.CONCLUSIONS ABA had severe drug-resistance,SCF and AMK keep better activity to ABA.Rational selection and use of antibacterials is important to prevent the appearance of drug-resistance of ABA.

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.

Objective To explore the clinical significance of anti-nuclear protein B23 antibody in systemic sclerosis. Methods Enzyme-linked immunosorbent assay was employed to detect the serum antinuclear B23 autoantibody. Mann-Whitney U test was used to compare the clinical and autoantibody profiles between SSc patients with B23 antibody and those without B23 antibody. Logistic regression analysis was employed to analyze the correlation between B23 antibody and clinical manifestations and autoantibody profiles. Results Mann-Whitney U test showed that, forced vital capacity (FVC) diffusion capacity of CO (DLco) in B23 positive SSc was significantly lower than that in B23 negative counterparts, pulmonary artery hypertension was more prevalent in B23 positive SSc patients. While anti-fibrillarin, anti-U1RNP, and antic entromere antibodies were more prevalent in B23 positive SSc. Multivariate logistic regression showed that anti-B23 antibody positivity was an independent risk factor for pulmonary artery hypertension in SSc (OR=123.92, 95％CI 26.67～575.66, P＜0.01), and a protective factor for severe gastrointestinal involvement (OR=0.08, 95％CI 0.01 ～0.70, P＜O.05). Logistic analysis showed that anti-B23 antibody was correlated with antifibrillarin (OR=11.50, 95％CI3.85～34.37, P＜0.01) and anti-U1RNP antibodies (OR=3.43, 95％CI 1.01～11.63, P＜0.05), and correlated with different degree of pulmonary artery hypertension. Conclusion The pulmonary artery pressure should be monitored closely in those SSc patients with a positive B23 antibody.

Objective:To investigate the prognostic value of estrogen receptor (ER), progesterone receptor (PR), and Ki-67 in breast can-cer patients receiving neoadjuvant chemotherapy (NAC) and explore the association of chemotherapy regimens and cycles with the outcome of NAC. Methods:Clinical data of cancer patients receiving NAC were retrospectively analyzed. All the patients were admit-ted in Tianjin Medical University Cancer Institute and Hospital from January 2015 to December 2015. All statistical analyses were per-formed using SPSS version 19.0. The relationship among the outcome of NAC, molecular subtype, expression levels of ER, PR, and Ki-67, and chemotherapy regimens and cycles was investigated. Results:Only five HER-2(+) patients accepted the addition of trastuzum-ab in treatment, and few cases were excluded from the statistical analysis based on the effect of chemotherapy regimens. The effec-tiveness of NAC was positively correlated with the expression of Ki-67 whereas negatively correlated with the expression levels of ER and PR (P<0.05). In patients receiving NAC, the patients with Luminal subtype had worse outcome than those with non-Luminal sub-type (P=0.033). The invalid efficacy of pathologic evaluations of Luminal and non-Luminal NAC were 10.1%and 1.3%, respectively. No significant difference was found in the outcome among patients receiving TE, TEC, or EC-T;however, patients who received more than four cycles of NAC had better outcome than others (P=0.016). The outcome was statistically significant when the cut-off value of Ki-67 was 25%. Conclusion:Ki-67 proliferative index could be used as a prognostic marker to NAC in breast cancer patients. The cut-off value of Ki-67 should be determined on the basis of the data of each cancer patient. The curative effect of NAC was poor, and Luminal pa-tients with chemotherapy were insensitive and could be considered for surgical treatment. Patients who received less than four cycles of NAC had worse outcome than others, and prompt NAC foot treatment could improve the efficiency.