Objective To evaluate changes of regional cerebral metabolism by proton MR spectroscopy (~1H-MRS) in patients with minimal hepatic encephalopathy (MHE) and to correlate these changes with the neuropsychological test. Methods Fifty-four patients with cirrhosis including nine patients with hepatic encephalopathy (HE),23 patients with MHE,22 patients without HE and 13 controls underwent neuropsychological tests and ~1H-MRS scanning. The volumes of interest included occipital gray matter and left parietal white matter regions. Ratio of spectral peak areas of N-acetylaspartate (NAA),choline (Cho),myo-inositol (mI),and glutamine/glutamate (Glx) relative to creatine (Cr) were acquired. Statistical analysis was conducted using independent t test and one-way analysis of variance. The results of different groups were compared by using the nonparametric Mann-Whitney U test with Bonferroni correction. Correlations among the ~1H-MRS ratios, the grade of HE, neuropsychological test and ammonia data were calculated with Spearman correlation test. Results The ratios of NAA/Cr,Cho/Cr,mI/Cr,Glx/Cr of the occipital gray matter and left parietal white matter regions in patients with cirrhosis are 1.55±0.12,0.48±0.10,0.42±0.14,2.52±0.48 and 1.73±0.17,0.75±0.16,0.42±0.16,2.75±0.59respectively,and they are 1.53±0.10,0.48±0.09,0.51±0.11,2.20±0.39 and 1.69±0.15,0.82±0.14,0.53±0.12,2.40±0.40 in patients without HE,1.58±0.13,0.48±0.08,0.38±0.13,2.62±0.39 and 1.78±0.18,0.74±0.14,0.38±0.15,2.84±0.58 in patients with MHE,1.54±0.12,0.50±0.13,0.29±0.07,3.04±0.31 and 1.70±0.19,0.62±0.16,0.29±0.07,3.37±0.38 inpatients with HE.Compared with controls, decreased mI/Cr and Cho/Cr ratios and elevated Glx/Cr ratios were found in patients with cirrhosis (t=3.196,9.394,-6.527,P＜0.01,occipital gray matter. t=5.592,9.717,-6.681,P＜0.01,left parietal white matter＝ and in subgroup of patients without HE, with MHE and HE (F=5.097,25.896,20.204,P＜0.01,occipital gray matter.F=16.435,28.660,21.283,P＜0.01,left parietal white matter).Significant difference in these metabolic alterations was also found among the different groups of cirrhosis especially the ratios of Glx/Cr in occipital gray matter and left parietal white matter (P＜0.0084).The ratios of mI/Cr also significantly altered between patients without HE and with MHE (P＜0.0084).There was a significant negative correlation between the ratios of Cho/Cr,mI/Cr and the grade of HE (P＜0.01＝ and a significant positive correlation between the ratios of Glx/Cr and the grade of HE (r=0.709,P＜0.01,occipital gray matter; r=0.720,P＜0.01,left parietal white matter＝.NCT-A and DST of controls is (49±8) s and 39±6.They are (134±37),(83±26),(64±22) second and 15±2,25±9,35±8 in patients with HE,MHE and without HE respectively.The metabolic alterations of Cho/Cr,mI/Cr,Glx/Cr correlated significantly with neurepsychological tests in all subjects (P＜0.01＝.There was a significant positive and a negative correlation between the ratios of Glx/Cr and the data of NCT-A and DST respectively (r=0.570,-0.642,occipital gray matter; r=0.541,-0.632,left parietal white matter).The metabolic alterations of Glx/Cr had no correlation with ammonia data as well as other metabolic alterations.Conclusions ~1H-MRS study shows cerebral metabolic alterations of gray and white matter in patients with cirrhosis,especially the reduction in mI/Cr ratio and increase in Glx/Cr ratio. These changes correlate well with the neuropsychological tests and may be useful in predicting the presence of MHE.

Objective: To analyze the CYP2C19 gene polymorphism in patients with upper digestive system diseases in Anhui Province, so as to provide evidence for individual treatment. Methods: The 307 patients with upper digestive system diseases in the Department of Gastroenterology, The 901st Hospital of Combined Service Force of People＇s Liberation Army were selected. The CYP2C19 genotypes were detected by DNA microarray microarray. The CYP2C19 genotypes and metabolic types in different genders, ages and diseases were analyzed. Results: There were 197 males ( 64.17% ) and 110 females ( 35.83% ) , with the age of ( 58.00±16.13 ) years old. The gene frequency of CYP2C19*1, CYP2C19*2 and CYP2C19*3 was 62.70%, 32.25% and 5.05%, respectively. There were 119 cases (38.76%) of *1/*1 ( 636GG, 681GG ), 129 cases ( 42.02% ) of *1/*2 ( 636GG, 681GA ) , 18 cases (5.86%) of *1/*3 ( 636GA, 681GG ) , 29 cases ( 9.45% ) of *2/*2 ( 636GG, 681AA ) , 11 cases ( 3.58% ) of *2/*3 ( 636GA, 681GA ) , and 1 cases ( 0.33% ) of *3/*3 ( 636AA, 681GG ). In terms of metabolisms, there were 119 cases ( 38.76% ) of fast metabolism type, 147 cases (47.88%) of intermediate metabolism type and 41 cases (13.35%) of slow metabolism type. There were no significant differences in CYP2C19 genotypes and metabolic types among the patients with different gender, age and digestive system diseases ( P＞0.05 ). Conclusion The CYP2C19 genotypes of patients with upper digestive system diseases were polymorphic, mainly the fast metabolism type and the intermediate metabolism type, which could provide reference for the clinical medication of individualized treatment of proton pump inhibitors.

Objective To summarize our clinical experience of surgical treatment for pediatric patients with ventricular septal defect(VSD) and mitral regurgitation(MR).Methods A retrospective study was performed including consecutive 84 patients with VSD and MR receiving mitral valvuloplasty(MVP) and VSD closure from January 2006 to January 2012 in Shanghai Xinhua Hospital.All patients were associated with pulmonary hypertension(PH,32-85 mm Hg).The diameters of ventricular septal defects were between 0.7 and 1.6 cm.Echocardiography showed that trivial MR (+) in 9 cases,mild MR (++)in 18 cases,moderate MR(+++) in 33 cases,and severe MR(++++) in 24 cases.VSD closure and MVP were performed with cardiopulmonary bypass under moderate systemic hypothermia.The results of repair were evaluated by transesophageal echocardiography (TEE) during operation.Results Intra-operative TEE results: no residual shunt of VSD,none MR in 80 cases,residual trivial MR in 4 cases.Mean Cardiopulmonary bypass (CPB) time was (84.6 ± 18.5) mins.Mean Aortic clump time was(50.8 ± 11.5) mins.Mean postoperative ventilation time was (38.7 ± 30.2) hours,and mean postoperative inhosptial time was(10.5 ±4.6) days.The in-hospital mortality was 1.2％ (1 case died).78 cases were fully followed up.There was no late death.Echocardiography showed that none MR in 62 cases,trivial MR in 10 cases,mild MR in 4 cases,moderate MR in 2 patients.The overall freedom from reoperation at 5 years was (97.4 ± 1.8) ％.Conclusion Ventricular septal defect with pulmonary hypertension need early surgical repair.MR was treated at the same time of VSD closure could effectively improve the surgical outcome of pediatric patients with ventricular septal defect and mitral regurgitation.

Objective To review the surgical methods and mid-term results of mitral valve repair in pediatric patients with moderate to severe mitral regurgitation (MR).Methods 132 children with moderate to severe MR,aged (18.9 ± 7.2)months,weighted(11.3 ±4.8) kg.The etiology for mitral regurgitation is congenital heart disease in 126 cases,infective endocarditis in 5 cases and Marfan syndrome in 1 case.Mitral valvuloplasty(MVP) was performed with cardiopulmonary bypass under moderate systemic hypothermia.The methods of MVP included annuloplasty,annuloplasty ring,cleft closure,reconstruction of posterior leaflet.The coucomitant cardiac anomalies were treated at the same time.The results of repair were evaluated by saline injection test and transesophageal echocardiography (TEE) during operation.Results Intra-operative TEE results: 131 cases had none to mild MR,and only one case had moderate MR.The patient underwent second repair immediately,subsequent TEE was mild.Mean cardiopulmonary bypass (CPB) time was (80.0 ± 31.1) minutes.Mean aortic clump time was (48.0 ± 17.9) minutes.The in-hospital mortality was 2.3％ (3 cases died).One died of heart failure on postoperative day 7,the other died of low cardiac output syndrome resulting on postoperative day 2.Another one was large ventricular septal defect(VSD) with pulmonary hypertension (PH),died of pulmonary infection.Mean postoperative ventilation time was (34.4 ± 31.9) hours,and mean postoperative inhosptial time was (9.0 ± 5.4) days.The average follow-up period was (40.5 ± 8.3) months (2 to 74 months).122 cases were fully followed up.Echocardiography showed that moderate MR was in 7 patients,and 3 patients had severe MR.4 patients underwent re-do mitral valve repair or mitral valve replacement.There was no late death.The overall survival rate at 5 years was 97.7％ and the overall freedom from reoperation at 5 years was 92.0％.Conclusion Pediatric patients with moderate to severe MR need early surgical treatment,the early and mid-term results were satisfactory.Individualized treatment protocol based on specific pathology was the keypoint of surgical therapy.

OBJECTIVE: To establish a method which processes RHCE genotyping with PCR. METHODS: Using PCR-SSP to detect RHCE genotype in 200 cases of Han population in north of China and Li population in south of China and detecting 5 samples of parentage testing at the same time. RESULTS: The results of RHCE genotyping in individuals of two populations are completely accorded with the results of serology typing. And the distribution of RH genotypic frequency in Han population in north China is: RHCCEE 1, RHCCEe 3, RHCCee 88, RHCcEE 4, RHCcEe 20, RHCcee 54, RHccEE 1, RHccEe 22, RHccee; The distribution of RH genotypic frequency in Li populatin in south China is RHCCEE 2, RHCCEe 2, RHCCee 106, RHCcEE 7, RHCcEe 62, RHCcee 10, RHccEE 3, RHccEe 8. The results of RHCE genotype detecting of parentage testing samples are accorded with the results of associated identification of 13 STR loci. CONCLUSION PCR-SSP technology can exactly detect RHCE genotype in individuals of Han population in north China and Li population in south China.
Alleles ; Asian People/genetics* ; China/ethnology* ; DNA/blood* ; DNA Primers ; Gene Frequency ; Genetics, Population ; Genotype ; Humans ; Polymerase Chain Reaction/methods* ; Rh-Hr Blood-Group System/genetics*

Fifteen known compounds were isolated from Swertia delavayi by silica gel, Sephadex LH-20 and Rp-18 column chromatographies. Based on extensive spectroscopic analysis (MS, 1H, 13C-NMR), their structures were identified aserythrocentaurin (1), erythrocentaurindimethylacetal (2), sweroside (3), swertiamarin (4), gentiopicroside (5), swertiakoside A (6), 2'-O-acetylswertiamarin (7), 4'-O-[(Z) -coumaroyl] swertiamarin (8), 1,5,8-trihydroxy-3-methoxyxanthone (9), 8-O-β-D-glucopyranosyl-1-hydroxy-2,3, 5-trimethoxyxanthone (10), 8-O-[β-D-xyl- opyranosyl-(1 --> 6)-β-D-glucopyranosyl]-7,8-dihydroxy-3-methoxyxanthone (11), isovitexin (12), β-sitosterol (13), daucosterol (14), and oleanolic acid (15). Among them, ten ones (14, 7-11, 13) were obtained from S. delavayi for the first time. The isolates were evaluated for their anti-HBV activities in HepG 2. 2. 15 cell line in vitro. The results showed that compound 1, 2, 6, 7, 9 and 12 exhibited significant inhibitory activity on HBV DNA replication with IC50 values from 0.05 to 1.46 mmol x L(-1).
Antiviral Agents ; chemistry ; isolation & purification ; Drugs, Chinese Herbal ; chemistry ; isolation & purification ; Hepatitis B virus ; drug effects ; genetics ; Magnetic Resonance Imaging ; Molecular Structure ; Spectrometry, Mass, Electrospray Ionization ; Swertia ; chemistry

OBJECTIVETo detect the mRNA and protein expression of interferon-inducible transmembrane protein-1 (IFITM1) in Peutz-Jeghers syndrome (PJS) and investigate the role of IFITM1 in the occurrence, development and carcinogenesis of PJS polyps.

METHODSReverse transcription-PCR was employed to detect the mRNA expression of IFITM1 in 16 PJS polyp samples, adenomatous polyp tissues, colon adenocarcinoma samples, and normal intestinal mucosal tissues. The protein expression and localization of IFITM1 in these tissues (32 cases for each) were detected with immunohistochemical (IHC) staining.

RESULTSThe IFITM1 mRNA expression was detected in all these tissues, and the expression intensity increased in the order of normal intestinal mucosa, PJS polyp, adenomatous polyp, and colon adenocarcinoma (F=92.704, P=0.000). IHC revealed that IFITM1 protein was localized mainly on the cell membrane and in the cytoplasm, with increased expression intensity in the same order as its mRNA and showing significant differences between the tissues by several rank-sum test (Kruskal-Wallis H, chi(2)=37.036, p=0.000).

CONCLUSIONThe expression level of IFITM1 is associated with the progression of the carcinogenetic process in PJS polyp, and can be used as a sensitive biomarker for diagnosis and prognostic evaluation of PJS.

Adolescent ; Adult ; Aged ; Antigens, Differentiation ; Biomarkers ; metabolism ; Cell Transformation, Neoplastic ; metabolism ; Disease Progression ; Female ; Humans ; Male ; Membrane Proteins ; genetics ; metabolism ; Middle Aged ; Peutz-Jeghers Syndrome ; metabolism ; pathology ; RNA, Messenger ; genetics ; metabolism ; Young Adult

This study was aimed to analyze the hematologic and molecular biologic characteristics of 14 Wenzhou patients with minor beta-thalassemia, to find out the mutation sites responsible for the disease by detecting sequences of PCR products and to analyze the single nucleotide polymorphism. The peripheral blood of patients was collected intravenously and was anticoagulated with EDTA-K(2); then the templates from blood samples were extracted, the related primers were designed for sequencing the products amplified by PCR; finally mutation sites resulting in beta-thalassemia were found through comparison and analysis of sequences. The results indicated that the C-->T heterozygous mutation occurred at the IVS-2 -654 site in 4 cases; the TTCT deficiency appeared at CD41/42 site in 1 case; in 2 sites existed single nucleotide polymorphisms occurring at the 59th site of exon 1 (T/C, CAT/CAC, His) and IVS-2 nt 665 (T/C). It is concluded that single nucleotide polymorphism of minor beta-thalassemia patients born in Wenzhou had specificity, this study found too kinds of gene mutations which are IVS-2 -654 C-->T heterozygous mutation and CD41/CD42 site-TTCT deficiency.
Base Sequence ; China ; Humans ; Mutation ; Polymorphism, Single Nucleotide ; beta-Globins ; genetics ; beta-Thalassemia ; genetics ; metabolism

Coronary Vessel Anomalies ; diagnosis ; Electrocardiography ; Humans ; Infant ; Pulmonary Artery ; abnormalities

OBJECTIVERett syndrome (RTT) is a severe childhood neurodevelopmental disorder mainly affecting females. The pathogenic gene is located at Xq28, which codes for the methyl-CpG-binding protein 2. MECP2 gene is affected by X chromosome inactivation (XCI). The different XCI patterns of females could affect the expression ratios of pathogenic gene, causing changes in clinical symptoms. In order to understand the XCI patterns in RTT patients and the relationship between XCI pattern, genotype and phenotype, the XCI patterns in patients with RTT and their mothers, the parental origin of the priority inactive X chromosome in RTT, and the relations of XCI patterns with genotype and phenotype in RTT cases were analyzed.

METHODSGenomic DNA was extracted from peripheral blood of 55 cases with RTT (52 with MECP2 mutations, 3 without mutations), 53 mothers of RTT cases and 48 normal female controls. DNA was digested with methylation sensitive restriction endonuclease Hpa II. Then the undigested and digested DNAs were amplified via PCR for the first exon of human androgen receptor (AR) gene. PCR products were analyzed by Genescan.

RESULTSThe heterozygotic rates of AR gene were 82%, 77% and 83% in RTT patients, mothers and controls, respectively. XCI distribution pattern of RTT was different from that of the mothers and control, P < 0.05. More mothers and controls than RTT patients were in the area of XCI 50:50 - 59:41. The differences between them were statistically significant (P < 0.05). No significant difference in XCI distribution patterns between mothers and the control groups was found (P > 0.05). Non-random XCI rates in the areas of XCI >or= 65:35 and >or= 80:20 were 53.35% and 17.8%, respectively, in RTT patients, compared with the mothers group (36.6%, 7.3%) and control group (35%, 10%), it was higher in RTT patients, but the difference was not statistically significant (P > 0.05). In 18 of 21 cases with XCI >or= 65:35, the priority inactive X chromosome was of paternal origin (85.7%). Variable XCI patterns were observed in the same gene mutation patients. The highly skewed XCI as well as the random XCI were found in patients with mild, severe and typical phenotype. The rate of highly skewed XCI in atypical patients was higher than that in typical RTT patients. The rate of highly skewed XCI in T158M was higher than the other type mutations. No highly skewed XCI was observed in cases with R133C mutation.

CONCLUSIONThe XCI distribution pattern of RTT patients was different from that of RTT mother and control groups. There was no significant difference in XCI distribution patterns between mothers and the control groups. It was not a main genetic pattern in RTT that mothers as the carriers to transmit the pathogenic gene to the patients. Non-random XCI was not the main XCI pattern in RTT patients. The priority inactive X chromosome was mainly of paternal origin. XCI could modify the clinical phenotype of RTT, but had limitations in explaining all the phenotypes manifested in RTT cases.

Adolescent ; Adult ; Child ; Child, Preschool ; Chromosomes, Human, X ; genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Heterozygote ; Humans ; Mothers ; Mutation ; Phenotype ; Receptors, Androgen ; genetics ; Rett Syndrome ; diagnosis ; genetics ; X Chromosome Inactivation ; genetics