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: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.

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 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 study the cognitive function and brain white matter fiber change in major depressive patients prior and post-treatment.Methods:Eleven major depressed patients were given antidepressants for 10 weeks, and their conditions were evaluated using 24-item Hamilton Depression Scale(HAMD).The cognitive function was determined by using Wisconsin Card Sorting Test(WCST),part of Wechsler memory scale and diffusion tensor ima- ging(DTI)was scanned before and after treatment.11 healthy people as control group were involved and given the same tests at the same time.Results:(1)The WCST scores of patients increased significantly after treatment(prior treatment Cc:1.6?1.6,Re:67.9?20.0,Rpe:51.5?24.8;post treatment Ce:4.0?2.1,Re:43.2?18.8,Rpe:22.8?16.0,P=0.001/0.000/0.003).There was no difference in number sequence memory in Wechsler memory scale.No difference was found between patients after treatment and control group in either WCST or number sequence memory.The patients made significant improvement in the total score of HAMD after treatment(16?14/54?13,t=6.60,P

Objective To study the relationship between FAB‐classifying standard and immunophenotype of leukemia in clinical diagnostic and treatment .Methods There were 462 cases of leukemia according to FAB‐classifying standard and 34 cases by immu‐nophenotype in our hospital from 2011 to 2013 .The results of FAB‐classifying standard and immunophenotype were statisticed and compared .Results Among the 462 cases ,there were 171 acute myeloid leukemia (AML) ,50 acute lymphoblastic leukemia (ALL) , 76 chronic leukemia ,3 rare types ,56 unclear types and 27 mismatched according the FAB‐classifying standard .The diagnostic rate was 82 .03% .34 cases of immunophenotype included 29 single phenotype ,4 double phenotypes and 1 unknown .The diagnosis rate was 97 .06% .CD13 and CD33 have high positive express in AML ;CD34 and HLA‐DR do not express in M3 ;CD7 which was known as a lymphatic antigen also was founded in AML .Conclusion The combing use of FAB‐classifying standard and immunophenotype can improve diagnostic rate ,and immunophenotype has an important role in differentiating different subtypes of leukemia .

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 .

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.