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 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*

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.

To review the application,acceptance,evaluation and funding of the General,Youth and Regional Science Fund supported by Chinese National Natural Science Foundation in traditional Chinese medicine in 2017.There were 4 472 applications in the subject,114 of which failed in the formal examination,4 358 applications were accepted in the next assessment step;1 403 applications got more than 2 recommendations after peer assessment and 637 applications were funded in the end.The major problems in every step of Science Fund were analyzed in this paper.The author hopes all applicants should pay attention to the problems,and then improve the quality of applications in the field.

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

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

OBJECTIVERett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females as sporadic cases due to de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). Familial cases of RTT are rare and are due to X-chromosomal inheritance from a carrier mother. Recently, DNA mutations in the MECP2 have been detected in approximately 84.7% of patients with RTT in China. To explain the sex-limited expression of RTT, it has been suggested that de novo X-linked mutations occur exclusively in male germ cells resulting therefore only in affected daughters. To test this hypothesis, we have analyzed the parental origin of mutations and the XCI status in 15 sporadic cases with RTT due to MECP2 molecular defects.

METHODSAllele-specific PCR was performed to amplify a fragment including the position of the mutation. The allele-specific PCR products were sequenced to determine which haplotype contained the mutation. It was then possible to determine the parent of origin by genotyping the single nucleotide polymorphism (SNP) in the parents. The degree of XCI and its direction relative to the X chromosome parent of origin were measured in DNA prepared from peripheral blood leucocytes by analyzing CAG repeat polymorphism in the androgen receptor gene (AR).

RESULTSExcept for 2 cases who had a frameshift mutation; all the remaining 13 cases had a C-->T transition mutation. Paternal origin has been determined in all cases with the C-->T transition mutation. For the two frameshift mutations, paternal origin has been determined in one case and maternal origin in the other. The frequency of male germ-line transmission in mutations is 93.3%. Except for 2 cases who were homozygotic at the AR locus, of the remaining 13 cases, 8 cases had a random XCI pattern; the other five cases had a skewed XCI pattern and they favor expression of the maternal origin allele.

CONCLUSIONDe novo mutations in sporadic RTT occur almost exclusively on the paternally derived X chromosome and that this is most probably the cause for the high female: male ratio observed in sporadic cases with RTT. Random XCI was the main XCI pattern in sporadic RTT patients. The priority inactive X chromosome was mainly of paternal origin.

Chromosome Aberrations ; Chromosomes, Human, X ; Female ; Humans ; Male ; Methyl-CpG-Binding Protein 2 ; genetics ; Mutation ; Polymorphism, Single Nucleotide ; Rett Syndrome ; genetics ; X Chromosome Inactivation

OBJECTIVETo investigate the absorption and transport mechanism of magnolol in Caco-2 cell model.

METHODSA human intestinal epithelial cell model Caco-2 cell in vitro cultured was applied to study the absorption and transport of magnolol, the effects of time, donor concentration, P-gp inhibitor verapamil, pH and temperature on the absorption and transport of magnolol were investigated. The determination of magnolol was performed by high performance liquid chromatography, then the values of apparent permeability coefficient (P app ) and P ratio Basolateral-to-Apical (BL-to-AP)/Apical-to-Basolateral (AP-to-BL) were calculated.

RESULTSIn Caco-2 cell model, comparing the amounts of transport of AP-to-BL and BL-to-AP, the latter was larger. At the same donor concentration, either the amounts of transport of AP-to-BL or BL-to-AP increased with increase in donor concentration and incubation time. Verapamil could significantly improve the amounts of transport of AP-to-BL. The transport of AP-to-BL and BL-to-AP depended on temperature, and there was no significant effect of pH on the transport of AP-to-BL.

CONCLUSIONMagnolol could be transported through the intestinal mucosa via a passive diffusion mechanism primarily, coexisting with a carrier-mediated transport, at the same time, the efflux mechanism could be involved.

Biological Transport ; drug effects ; Biphenyl Compounds ; metabolism ; Caco-2 Cells ; Chromatography, High Pressure Liquid ; Humans ; Hydrogen-Ion Concentration ; drug effects ; Intestinal Absorption ; drug effects ; Lignans ; metabolism ; Models, Biological ; Temperature ; Time Factors ; Verapamil ; pharmacology