0.05).However,HCT2s of right side and left side were significantly negatively correlated to age(r=-0.606,-0.522;P=0.000,0.000).Conclusion HCT2s in healthy Chinese aged 10~59 year measured on SE dual echo images are quite stable,and age is an influencing factor of HCT2,but not side,sex and handedness.

Objective To analyze the clinical characteristics of narcolepsy in children with obesity,and to e-valuate the impact of obesity on narcoleptic children clinically. Methods Forty cases first diagnosed as narcolepsy were recruited in the study who to see doctors at the Department of Neurology,Children's Hospital of Capital Institute of Pediatrics,from July 2012 to January 2015. According to diagnostic criteria for obesity by the body mass index(BMI) growth curve for the Chinese children and adolescents,they were divided into the obese group and the nonobese group. The general clinical data of 2 groups were analyzed,and the related metabolic indexes and the whole night polysomnog-raphy(PSG)of 2 groups were studied. Results In this group,male versus female 3: 1,obesity was found in 21 cases (52. 5% )and nonobesity was found in 19 cases(47. 5% )from the samples. The mean BMI of all patients was (21. 55 ± 3. 11)kg/ m2 . The average BMI of the obese group was(23. 09 ± 2. 46)kg/ m2 ,and BMI of the non - obese group was(19. 85 ± 2. 89)kg/ m2 . Obese children were younger at the onset of disease and by the time of diagnosis age [(7. 94 ± 2. 22)years old,(8. 76 ± 2. 36)years old]than nonobese children[(10. 75 ± 3. 10)years old,(12. 51 ± 2. 88)years old]. The fasting blood glucose and blood lipid in all patients were normal,and there was no significant difference between 2 groups. The total sleep time,sleep efficiency and the ratio of rapid eye movement(REM)phase of the obese group[(397. 45 ± 53. 76)min,(68. 70 ± 8. 90)% ,(18. 37 ± 4. 39)% ]were significantly lower than those of the non - obese group[(449. 95 ± 86. 49)min,(76. 58 ± 13. 60)% ,(22. 19 ± 6. 34)% ]. According to the sleep structure,the percentage of stageⅠnon rapid eye movement(NREM)sleep in the obese group[(20. 90 ± 6. 38)% ] was more than that in non - obese group[(16. 26 ± 4. 22)% ]. There was no difference between the percentage of stageⅡNREM sleep in the obese group[(42. 59 ± 5. 52)% ]and the non - obese group[(38. 54 ± 8. 74)% ]. Stage Ⅲ + Ⅳ(slow wave sleep)NREM sleep ratio in the obese group[(18. 14 ± 6. 97)% ]was significantly lower than that in the non - obese group[(22. 60 ± 5. 69)% ]. Conclusions Obesity is one of the most common comorbids in narcolepsy, which affects more than 50% of narcoleptic children,mostly younger at disease onset. The narcolepsy children with obe-sity has total sleep time decreased,sleep efficiency reduced and sleep structure disorder is more obvious. To improve the realization of obesity in narcolepsy children and early treatment is the key to the success of the therapy.

Objective To assess the efficiency and reliability of clinical genetic diagnosis of methylmalonic acidemia(MMA) using new generation sequencing platform (HiSeq2000).Methods 1.Nine patients diagnosed with clinical signs of MMA were recruited.DNA library from the patients were mixed with designed gene capture probe.The whole exons region of 48 genes related to organic acid metabolism were screened using the gene capture combined with high-throughput sequencing.2.The joints were removed and the low quality data were filtered,the data were analyzed by means of SNP and InDel.To avoid the false positive,the abnormal sites were verified using the Sanger sequencing method.3.The detection of the organic acid in the urine was performed through gas chromatography-mass spectrometry and other auxiliary examinations.Results 1.Gene mutation:7 gene mutations of MMACHC were identified in 7 patients.Seven mutations:c.482G ＞ A,c.567_568insT,c.609G ＞ A,c.440_441del,c.80A ＞ G,c.315C ＞ G,c.90G ＞ Awere screened.The mutation c.440_441del had not been reported before,and others were all related to the disease.Two gene mutations of mutase apoenzyme(MUT) were identified in 1 case,all of which were introns:.c.754-1G ＞ C,c.1677-1G ＞ A.The novel mutation was c.754-1G ＞ C.No gene mutation was identified in 1 patient.2.Clinical manifestation:all of the patients were development delay,but the degrees were different;3 patients with convulsion; 1 patient with headache and central facial paralysis;1 patient with repeated intractable metabolic acidosis;1 patient with repeated hemolysis.Electroencephalogram of the all patients were abnormal;the result of cranial MRI of the 8 patients were abnormal;In all patients,urine level of methylmalonic acid significantly increased (273.4-146 022.8 times).Blood homo cysteine of 8 patients were significantly increased(27.13-396.84 μmol/L,normal ＜ 20 μmol/L).3.Sanger sequencing:there were no false positive exists.Conclusions 1.There were not a correlation between the clinical manifestation and gene mutation of the patients with MMA.The c.609G ＞ A was the hotspot mutation of MMACHC gene in Chinese patients with MMA and homocysteinemia.2.The mutations c.440_441del and c.754-1G ＞ C were presumed to be novel mutations.3.Gene capture technology combined with next-generation sequencing technology could be used to interrogate the wealth of data available in the human genome and lay the foundations for counseling of gene.This platform can be readily and timely adopted by clinical molecular diagnosis of MMA and represents a high throughput,high sensitivity,high efficiency and other characteristics approach for screening common genetic diseases.

Objective To perform mutation analysis of survival motor neuron gene 1 (SMN1 in two spinal muscular atrophy (SMA) patients and their parents to evaluate the effects of the two SMN1 gene mutations on the transcript levels of the gene and preliminarily predict their effects on the structure and function of SMN protein.Methods Mutation analysis of SMN1 gene was carried out by multiplex ligationdependent probe amplification,reverse transcript-polymerase chain reaction (RT-PCR) and cloning sequencing.Transmission of the mutations was confirmed by the mutation analysis in patients' parents.The full-length SMN1 (SMN1-fl) transcript levels of the patients carrying these subtle mutations were detected using quantitative RT-PCR.Results The two patients were diagnosed as SMA Ⅱ and SMA Ⅲ.They carried p.Val19GlyfsX21 and p.Ala2Gly SMN1 mutations in SMN1 gene,respectively.Both of the two mutations were originated from their fathers.Compared with the healthy individuals (23.5 ± 4.9),the two patients had a significant reduction in the level of SMN1-fl transcripts (t =3.322,P =0.011 (p.Ala2Gly) ;t =6.964,P =0.000 (p.Val19GlyfsX21)).However,compared with the healthy carriers (14.1 ±4.5),the patient with p.Ala2Gly mutation had no significant reduction in the level of SMN1-fl transcripts (13.9 ±3.6,t =0.058,P =0.955) ; however,the patient with p.Val19GlyfsX21 mutation had a significant reduction (4.9± 2.4,t =3.725,P =0.004).Conclusions Two SMN1 gene mutations are identified in our study.The mutation p.Val19GlyfsX21 is a novel mutation and p.Ala2Gly is firstly reported in Chinese SMA patients.p.Val19GlyfsX21 may possibly lead to decreased SMN1-fl mRNA by nonsense-mediated messenger RNA decay,however,p.Ala2Gly has no obvious effects on the amount of the SMN1-fl transcripts,indicating that its deleterious effect may be occurring at SMN protein level or the function of SMN protein.

Aim To investigate the effect of urotensin Ⅱ on vascular calcification.Methods Calcified VSMCs of rat in vitro were induced by ?-glycerophosphate.Cellular calcium content,ALP activities,45Ca accumulation and osteocalcin content were measured.Results Compared with those of control group,calcium content,ALP activities,45Ca uptake and osteocalcin in calcified VSMCs increased greatly(P

Aim To investigate the effect of urotensin Ⅱ on vascular calcification.Methods Calcified VSMCs of rat in vitro were induced by β-glycerophosphate.Cellular calcium content,ALP activities,~(45)Ca accumulation and osteocalcin content were measured.Results Compared with those of control group,calcium content,ALP activities,~(45)Ca uptake and osteocalcin in calcified VSMCs increased greatly(P<0.01).Calcium content,ALP activities,~(45)Ca uptake and osteocalcin of calcified VSMCs stimulated by urotensin Ⅱ (10~(-10)、10~(-9) and 10~(-8) mol·L~(-1))were greatly increased in a concentration-dependent manner as compared with those of calcified group(P<0.01).Conclusion UrotensinⅡ aggravates the calcification of VSMCs induced by β-glycerophosphate.

Objective To investigate the expression variation of aquaporin in colon tissues in acute necrotizing pancreatitis (ANP).Methods ANP rat model was induced by the retrograde injection of sodium taurocholate into the biliopancreatic duct.The rats were killed at 4 h, 8 h, 12 h and 24 h after modeling with 6 rats for each time point.The pancreas and colon tissues were harvested for pathological examination.The levels of IL-6, TNF-α mRNA expression and AQR (aquaporin-3, aquaporin-4, aquaporin-8) mRNA expression in proximal and distant colon were detected by RT-PCR.The levels of aquaporin protein in colon were examined by immunohistochemistry.Results After the establishment of ANP SD rat model, the integrity of colonic mucosa was continuously damaged, the structure of epithelial cells was unclear and the colonic villus were broken and destroyed, and inflammatory cell infiltration in submucosa was observed.The pathological score increased with the time of modeling.In 4 h, except that the mRNA levels of AQP-4 in distal colon was not obviously changed, mRNA levels of IL-6 and TNF-α, mRNA and protein expression of AQP-3 and AQP-8 in the proximal and distal colon of ANP rats were significantly elevated compared with shame group (P<0.05).AQP-3 and AQP-8 mRNA in proximal colon of ANP rats reached its peak in 8 h after the establishment and AQP-4 mRNA peaked at 24 h.AQP-3 and AQP-4 mRNA in distant colon of ANP rats reached its peak in 8 h after the establishment and AQP-8 mRNA peaked at 24 h.Protein expression of AQP-3, AQP-4 and AQP-8 in proximal and distant colon was strongest in 12 h and 24 h after the establishment.Conclusions With the progression of the ANP, the expression levels of AQP-3, AQP-4 and AQP-8 in both proximal and distal colons were elevated in various degrees, indicating that the aquaporins may participate in water metabolism of colon during ANP.

Objective To investigate the association of single nucleotide polymorphisms (SNPs,rs4565946 and rs4570625) of tryptophan hydroxylase2 (TPH2) gene with Tourette's syndrome (TS) in Beijing Han population.Methods One hundred and forty-nine patients with TS,diagnosed and treated in our hospital from January 2009 to January 2011,were chosen; these patients were sub-divided into mild symptoms group (n=25) and moderate to severe symptoms group (n=87) according to the scores of Yale Global Tic Severity Scale (YGTSS); another 125 healthy children,collected at the same time period,were used as control group.MassARRAY iPLEX GOLD System was used to detect the two SNPs (rs4570625 and rs4565946) of TPH2 gene.Genotype distribution and allele fiequencies of these two group patients were compared.Transcription factor binding sites of TPH2 gene polymorphisms were analyzed by the web site of transcription factor binding sites for function prediction.Results For rs4565946,individuals with the TT genotype showed a significantly higher risk of TS than those with TC plus CC genotypes (OR=3.077,95％CI:1.273-7.437; P＜0.05); as did male TS children with the TT genotype (OR=3.228,95％ CI:1.153-9.040; P＜0.05).Further association analyses showed that G allele of rs4570625 in children of moderate to severe symptoms group had significantly higher frequency than that in controls among the male children (OR=1.684,95％:1.097-2.583; P＜0.05).Children of moderate to severe symptoms group had significantly higher frequencies of rs4546946 TT genotype than normal controls in males (OR=3.292,95％ CI:1.139-9.513; P＜0.05).Bioinformatics method indicated that the G genotype of rs4570625 mutated from T genotype might affect the binding ability of its transcription factor with its promoter in TPH2 gene.Conclusions TT genotype of rs4565946 is a potential genetic risk factor for TS.Allele G ofrs4570625 might be associated with the severity of tic symptoms in boys.These polymorphisms might be susceptibility loci for TS.

Objective:To explore the clinical value of procalcitonin (PCT) in predicting mortality of patients with acute biliary pancreatitis (ABP).Methods:The clinical data of 196 ABP patients admitted in the emergency department of Ruijin Hospital Affiliated to Shanghai Jiaotong University Medical College from January 2013 to June 2017 were analyzed retrospectively. The enrolled patients were divided into survival group ( n=176) and death group ( n=20) according to clinical outcome, and their clinical characteristics, laboratory results(including WBC, CRP, PCT), APACHEⅡ score, BISAP score, modified Marshall score, SOFA score and CTSI at admission were compared between two groups. The ROC curve and AUC were used to evaluate the effectiveness of PCT and multiple scoring systems in predicting mortality in ABP patients, and the Delong test was used to compare the predictive efficacy of various methods at 1-2 d, 3-4 d, and 5-7 d days after onset. Results:The PCT level, APACHEⅡ score, BISAP score, modified Marshall score, SOFA score, and CTSI of patients in the death group were significantly higher than those in the survival group [6.98(3.12, 13.64) μg/L vs 0.55(0.17, 1.74) μg/L, 12.00(6.00, 18.75) vs 6.00(3.00, 9.00), 3.20±1.47 vs 1.59±1.05, 2.85±0.37 vs 1.96±0.64, 5.50(4.00, 9.50) vs 2.00(1.00, 4.25), 5.05±2.33 vs 3.39±1.74], and all the differences were statistically significant (all P values <0.05). The AUC of PCT for predicting death was 0.881 (95% CI 0.820-0.938)and the cut-off value was 2.44. The predictive value of PCT was similar to that of the modified Marshall score, BISAP score and SOFA score, but higher than that of APACHEⅡ score and CTSI (all P values <0.05). The predictive AUC of PCT at 3-4 days after onset was higher than that of modified Marshall score, BISAP score and SOFA score, and were significantly higher than those at 1-2 days after onset. Conclusions:PCT can be used to predict the mortality of ABP within 7 days of onset. The predictive value of PCT was comparable to the modified Marshall score, BISAP score and SOFA score, and the best predictive time was 3-4 days after onset.

Objective To assess the predictive effect of myocardial injury biomarkers (proBNP, CK-MB, and cTnI) on the severity of acute pancreatitis (AP). Methods The records of 246 patients diagnosed with acute pancreatitis who were treated at Ruijin Hospital Emergency Department from January 2015 to December 2016 were retrospectively analyzed. According to the revised 2012 Atlanta guidelines, these patients were divided into the mild acute pancreatitis (MAP, n=47), moderately severe acute pancreatitis (MSAP, n=151) and severe acute pancreatitis (SAP, n=48) groups. The highest plasma levels of troponin I (cTnI), creatine kinase (CK)-MB, N-terminal B-type brain natriuretic peptide (NT-proBNP), C-reactive protein (CRP), and procalcitonin (PCT) were recorded for comparison within 72 h after admission. The acute physiology and chronic health evaluation Ⅱ (APACHE Ⅱ ) score, sequential organ failure assessment (SOFA), bedside index for severity in acute pancreatitis (BISAP) and Balthazar computed tomography severity index (CTSI) were calculated at admission within 72 h. Whether there is an occurrence of organ dysfunction, and the organ types and persist time of organ dysfunction were recorded. The analysis of variance, SNK-q test and paired samples t test were used for the statistical analysis. Results The levels of proBNP, CK-MB, and cTnI were significantly higher in the SAP group than in the non-SAP group. The receiver operating characteristic (ROC) curve demonstrated cTnI had the maximum predictive power (AUC=0.872), while proBNP had the least predictive ability (AUC=0.763). The established model, which is to explore whether the myocardial injury markers had the predictive value, showed that the combination of myocardial injury indicators (CK-MB, cTnI) and traditional indicators had higher predictive value for SAP than traditional indicators alone (AUC=0.966 vs. AUC=0.945, P=0.04). Conclusions The elevated markers of myocardial injury had certain predictive value for severe acute pancreatitis.