1.A sporadic case of tuberous sclerosis complex caused by a newly found heterozygous missense mutation of c.T1967C in TSC1 gene
Journal of Shanghai Jiaotong University(Medical Science) 2017;37(6):881-884
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.
3.Study on executive function in clinical subtypes of attention deficit hyperactivity disorder
Jing YAO ; Min JIN ; Jun LIU ; Wei ZHOU ; Congmin LIU
Chinese Journal of Behavioral Medicine and Brain Science 2014;(11):986-988
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.
5.Bone mineral density and biomechanics test after distraction osteogenesis using TiNi-shape memory alloy distractor
Min XIE ; Min HU ; Hongchen LIU ; Jun YAO ; Hongzhi ZHOU
Chinese Journal of Tissue Engineering Research 2008;12(17):3385-3388
BACKGROUND:TiNi shape memory alloy(TiNi-SMA)distractor can be buried completely,there is no time delay and it is different from other distractors previously used.Therefore,it is necessary to reevaluate the osteogenetic time and quality.OBJECTIVE:To investigate the quality of the alveolar ridge augmented by TiNi-SMA distractor by bone mineral density (BMD)and biodynamics tests of new-formed bone.DESIGN:Randomized controlled observation.SETTING:Department of Stomatology of General Hospital of Chinese PLA.MATERIALS:Twelve healthy adult male mongrel canines(ranged from 21 to 26 kg)were provided and bred by Medical Experimental Animal Center of General Hospital of Chinese PLA.All the animals were accorded with the requirements of the quarantine and animal ethnics.Self-made distractors were used in the study.XR-36 Dual Energy X-Ray Absorptiometry (Norland,USA)and 858 Mini Bionix Ⅱ Biomaterial Testing Machine(MTS,USA)were used in the study.METHODS:The experiments were performed at the Medical Experimental Animal Center of General Hospital of Chinese PLA from July 2000 to May 2004.The animals were grouped into group Ⅰ(3 months group)and group Ⅱ(6 months group)randomlv with 6 animals in each group.The left mandible was used as experimental side and the right was used as COntrol side.The canines were kilied after anaesthesia at 3 or 6 months later in both groups.After the mandible samples were cut,the BMD of three points in the distraction gap,above the distraction gap and below the distraction gap were measured by dual energy X-ray.Compressive biomechanics test was performed in the middle of the distraction area of the experimental side and the corresponding area of the control side to detect compressive stress and the modulus of elasticity.MAIN OUTCOME MEASURES:①BMD of the distraction area of the experimental side and the control side in the group Ⅰand group Ⅱ.②Compressive strength and modulus of elasticity of the mandibles of the experimental side and the control side.RESULTS:All of the 12 experimental canines were included in the final analysis,no drop-out.BMD determination:BMD was lower in above the distraction gap of the mandibles of the experimental side than in the control side in the group Ⅰ (t=-2.898,P<0.05).There was no significant difference in BMD between both sides in the group Ⅱ(P>0.05).Compressive biomechanics test:Compressive stress and the modulus of elasticity of the mandibles on the experimental side were lower than on the control side in the group Ⅰ(t=-3.274,-3.534,P<0.05).All indexes increased by some degree in the group Ⅱ compared to the group Ⅰ (P>0.05).CONCLUSION:The new bone is strong enough for later repair such as implantation after distraction osteogenesis using TiNi-SMA distractor.
6.Application of Kolb experience learning theory in Surgical Nursing teaching
Yannan LIU ; Aili PENG ; Jun YAO ; Lin YUE ; Shaolin SHEN
Chinese Journal of Practical Nursing 2014;30(20):27-29
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.
7.A cellular model for the expression of the C-type lectin dendritic cell-specific intercellular adhesion molecule-3-grabbing non-integrin: construction and functional analysis
Yu ZHANG ; Xu YAO ; Hanyan GU ; Baoxi WANG ; Jun LIU
Chinese Journal of Dermatology 2014;47(7):457-460
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.
8.Synthesis and verification of herpes simplex virus envelope glycoprotein gC
Yu ZHANG ; Xu YAO ; Hanyan GU ; Baoxi WANG ; Jun LIU
Chinese Journal of Dermatology 2014;47(8):578-582
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.
9.Clinical Application of Platelet-Rich Plasma in Treatment of Deep GradeⅡBurn Wounds
Zhewei LIU ; Kaixin SU ; Jun CHEN ; Jian YAO ; Hui LI
Tianjin Medical Journal 2014;(12):1213-1215
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.
10.Correlation of E-cadherin Expression and the Sensitivity to EGFR-TKI Molecular Targeted Therapy
Rongchun XING ; Jun ZHENG ; Wei LIU ; Rucheng YAO
Herald of Medicine 2014;(5):582-585
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.