Objective To identify the mutation of human ether-a-go-go-related gene (hERG) and analyze the clinical characteristics of a Chinese family with long ST syndrome (LQTS). Methods The electrocardiogram and DNA samples were obtained from a Chinese LQTS family of 26 members. Genotype was performed with polymorphic short tandem repeat (STR) markers at the known LQT1, LQT2, and LQT3 loci. SSCP analysis was used to find aberrant conformers. hERG mutation was confirmed by cloning and sequencing. Results Three gene carriers were linked to chromosome 7q35-36, where the potassium channel gene hERG was encoded. A 19-base pair deletion was identified. The mutation was located at nucleotide position 1 619-1 637 between transmembrane domains S4 and S5. Furthermore, A1692G polymorphism was found both in the normal control and patients. Conclusion A novel 19 bp deletion mutation of hERG is identified in a Chinese family. All gene carriers are demonstrated to be typical LQT2 ECG phenotype.

Objective To discuss the correlation between behavior characteristics and psychological condition of chronic type B hepatitis patients and analyze the effect of behavior characters to psychological condition. Methods 100 patients with type B hepatitis were investigated with symptom checklist (SCL-90) and type C behavior measuring scale (CB) and the data was analyzed. Results The patients with first third score in SCL-90 were enrolled in higher psychological condition group and patients with last third score in SCL-90 were enrolled in lower psychological condition group. Anxiety, depression, anger and anger extraversion in the two groups were compared and have significant differences ( P ＜ 0. 05). Anger and anger extraversion in type CB scale were positively correlated with all the factors in SCL-90. Anger measuring scale was positively correlated with the factors of constraint, interpersonal relation, depression, hostility and psychosis ( r =0. 245, 0. 233, 0.234, 0. 582, 0. 247 ; P ＜ 0. 05 ). Anger extraversion was positively correlated with the factors of constraint,interpersonal relation, hostility and psychosis ( r =0. 266, 0. 245, 0. 364, 0. 287 ; P ＜ 0. 05 ). The factor of optimistic was negative correlated with all the factors in SCL-90 especially with the factor of dread (P ＜0. 05).Conclusions The behavior characteristics had significant effects on psychological condition in chronic type B hepatitis patients.

OBJECTIVETo perform mutation analysis in a family with long QT syndrome.

METHODSThe medical record of the affected child and his parents were collected. The locus of gene associated with the long QT syndrome was mapped by linkage analysis. Mutation analysis was done by PCR-single strand conformation polymorphism (SSCP) and direct sequencing.

RESULTSA mutation (L539fs/47) and a SNP (L564L) were found in exon 7 of the KCNH2 gene of the proband. The mutation was from the father.

CONCLUSIONA novel mutation of L539fs/47 in the KCNH2 gene was identified in the LQTS family, which might be the disease-causing mutation for the family.

Base Sequence ; ERG1 Potassium Channel ; Ether-A-Go-Go Potassium Channels ; genetics ; Female ; Frameshift Mutation ; Humans ; Long QT Syndrome ; congenital ; genetics ; Male ; Molecular Sequence Data ; Pedigree ; Polymorphism, Single Nucleotide ; Young Adult

Objective To explore the effects of mild-warm moxibustion on PICC-related upper extremity deep vein thrombosis in gastrointestinal cancer patients.Methods Totally 117 patients with PICC were randomly assigned into the experimental group and the control group.All patients received routine PICC care,the control group was given normal saline for sealing tubes,the experimental group was given mild-warm moxibustion and normal saline.Incidence of thrombosis and indicators of hemorheology were compared between two groups.Results For incidence of thrombosis:7 days after placement,incidence of thrombosis in the experimental group was significantly lower than that in the control group(P＜0.05).For indicators of hemorheology:the whole blood viscosity at low shear and high shear,erythrocyte aggregation index,whole blood viscosity,and hematocrit were significantly lower in the experimental group than the control group.Conclusion Mild-warm moxibustion can effectively prevent thrombotic formation in gastrointestinal cancer patients with PICC by influencing hemorheology.

Objective To investigate standardized self-management education for diabetics outside the hospital treatment by continuous subcutaneous insulin pump insulin (CSⅡ) effect.Methods The 51 patients who received hospital stay treatment by continuous subcutaneous insulin pump insulin and post-discharge treatment by continuous subcutaneous insulin pump insulin were selected as research subjects,and randomly divided into two groups:observation group of 26 patients and the control group of 25 patients,both groups received education in the hospital and after discharge follow-up of education; observation group was to take standardized self-management education,control group to take the traditional education method.Knowledge master CSII therapy in the two groups of patients before discharge was compared.Biochemical indicators,body mass index and the abnormal situation 3 months post-discharge was compared in the two groups.Results Glycosylated hemoglobin,total cholesterol,triglycerides,body mass index were (5.81 ±0.36)％,(3.62 ±0.48)mmol/L,(1.61 ±0.46)mmol/L and (22.91 ±2.33) kg/m2,respectively,those in the control group were ( 6.57 ± 1.34 ) ％,( 4.50 ± 0.99 ) mmol/L,(1.94 ±0.74)mmol/L,and (24.20 ±2.95) kg/m2,respectively,and the differences were significant (t=2.78,4.06,1.92,1.74,respectively; P ＜ 0.05).7.6％ hypoglycemia,11.5％ skin inflammation in the infusion site,15.4％ plugging,and 15.4％ tape loose occurred in the observation group during the pump period,and those in the control group were 32.0％,64.0％,48.0％,72.0％,respectively; the incident rates in the observation group were lower than the control group,and the difference was significant (x2=4.78,15.01,6.29,16.65,respectively; P ＜0.05).Conclusions The hospital CSII-treated diabetes,standardized self-management education is better than traditional education methods; it is worth in clinical practice.

OBJECTIVETo study the clinicopathological features of the Chinese hereditary non-polyposis colorectal cancer and its germline mutation of hMLH(1) and hMSH(2).

METHODSThirteen typical Chinese hereditary non-polyposis colorectal carcinoma (HNPC)C kindreds and 19 non-typical HNPCC families were registered and followed up. The germline mutation of the hMLH(1) and hMSH(2) of 12 index cases of 6 typical and 6 non-typical HNPCC were screened by PCR-SSCP. Samples with abnormal mobility were sequenced directly.

RESULTSThe average age of typical HNPCC was 47, no difference existed between sexes. Location of the tumors of typical HNPCC represented 44.7% on the right half colon and non-typical HNPCC 65.8% on the rectum. The rate of the metachronos cancer was 11.5%. The 3-, 5-and 10-year survival rate was 64.0%, 45.3% and 31.2% respectively. Among 12 cases, 8 showed abnormal mobility. Except for an intron polymorphism, six exons abnormalities were found in 5 of 12 proband. Sequencing showed 4 missense, 7 insertion and a nonsense mutations.

CONCLUSIONSChinese HNPCC is early onset, more common on proximal colon and better prognosis. Mutation of hMSH(2) is dominant in the Chinese typical HNPCC, but mutation of hMLH(1) is more common in the non-typical group.

Adaptor Proteins, Signal Transducing ; Adult ; Asian Continental Ancestry Group ; genetics ; Carrier Proteins ; genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis ; genetics ; pathology ; DNA Mutational Analysis ; Female ; Follow-Up Studies ; Germ-Line Mutation ; Humans ; Male ; Middle Aged ; MutL Protein Homolog 1 ; MutS Homolog 2 Protein ; genetics ; Mutation, Missense ; Nuclear Proteins ; genetics ; Pedigree ; Polymerase Chain Reaction

In order to investigate the roles of Wnt signal pathway in transformation of cardiac valvular myofibroblasts to the osteoblast-like phenotype, the primary cultured porcine aortic valve myofibroblasts were incubated with oxidized low density lipoprotein (ox-LDL, 50 mg/L), and divided into four groups according to the ox-LDL treatment time: control group, ox-LDL 24-h group, ox-LDL 48-h group, and ox-LDL 72-h group. Wnt signal pathway blocker Dickkopf-1 (DDK-1, 100 μg/L) was added in ox-LDL 72-h group. The expression of a-smooth muscle actin (α-SMA), bone morphogenetic protein 2 (BMP2), alkaline phosphatase (ALP), and osteogenic transcription factor Cbfa-1 was detected by Western blotting, and that of β-catenin, a key mediator of Wnt signal pathway by immunocytochemical staining method. The Wnt/β-catenin was observed and the transformation of myofibroblasts to the osteoblast-like phenotype was examined. The expression of α-SMA, BMP2, ALP and Cbfa-1 proteins in the control group was weaker than in the ox-LDL-treated groups. In ox-LDL-treated groups, the protein expression of a-SMA, BMP2, ALP, and Cbfa-1 was significantly increased in a time-dependent manner as compared with the control group, and there was significant difference among the three ox-LDL-treated groups (P<0.05 for all); β-catenin protein was also up-regulated in the ox-LDL-treated groups in a time-dependent manner as compared with the control group (P<0.05), and its transfer from cytoplasm to nucleus and accumulation in the nucleus were increased in the same fashion (P<0.05). After addition of DKK-1, the expression of α-SMA, bone-related proteins and β-catenin protein was significantly reduced as compared with ox-LDL 72-h group (P<0.05). The Wnt/ β-catenin signaling pathway may play an important role in transformation of valvular myofibroblasts to the osteoblast-like phenotype.
Actins ; metabolism ; Animals ; Aortic Valve ; cytology ; Cell Differentiation ; drug effects ; Cells, Cultured ; Gene Expression Regulation ; drug effects ; Intercellular Signaling Peptides and Proteins ; pharmacology ; Lipoproteins, LDL ; pharmacology ; Myofibroblasts ; drug effects ; Osteoblasts ; physiology ; Phenotype ; Swine ; Wnt Signaling Pathway ; drug effects ; beta Catenin ; metabolism

OBJECTIVETo ascertain the genetic characterization and genotype of measles viruses isolated in Shanghai region, in 2005.

METHODSMeasles virus was isolated from throat swab specimens collected from suspected measles cases and 450 bp fragment of C terminus of nucleprotein (N) gene was amplified by RT-PCR. Sequence analysis was conducted to ascertain the genotype and to compare the difference of nucleotide with other measles virus strain published in GenBank.

RESULTS4 measles viruses were isolated from 10 throat swab specimens, and the sequence analysis indicated that they belonged to H1 genotype. The homogeneity of 450 nucleotides in the C terminal of the N gene was at 98%-98.2% as compared to H1 genotype (China93-7). They differed from genotype H2 (China94-1) at 6.4%-6.9% and from genotype A (Edmonston) at 6.7%-6.9%, from measles vaccine (Shanghail91) at 7.6%-8.0%. They differed from the other measles viral strain isolated in China in 1993 - 2005 at 0.2%-3.7%. The variation within 4 isolated measles viruses was at 0.7%-1.3%.

CONCLUSIONIt was H1 genotype measles viruses,which are the native viruses in China that led to the outbreak of measles in Shanghai, in 2005.

China ; epidemiology ; Disease Outbreaks ; Genotype ; Humans ; Measles ; epidemiology ; genetics ; Measles virus ; genetics ; isolation & purification ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA

OBJECTIVETo study the expression of anaplastic lymphoma kinase (ALK) and survivin proteins in anaplastic large cell lymphoma (ALCL) and there clinical significance.

METHODSThe morphologic characteristics were studied by routine light microscopy. Immunohistochemical staining for ALK and survivin proteins was performed using LSAB method.

RESULTSALK protein was positive in 51 cases (63%) and negative in 30 cases (37%) of the 81 cases of ALCL studied. The prognosis of patients with ALK protein expression was better than those without ALK expression (P < 0.05). As for survivin protein, there were various degrees of expression in all the 77 ALCL cases studied. High level of survivin protein expression was observed in 33 cases (42.9%), while low level of expression was seen in 44 cases (57.1%). The expression of survivin protein did not correlate with that of ALK protein (P > 0.05). The survival rate was significantly lower in patients with high survivin protein expression (P < 0.05). In cases with ALK protein expression, the prognosis was less favorable if there was also high co-expression of survivin protein (P < 0.05). In ALK protein negative cases, prognosis did not significantly correlate with the expression of survivin protein (P > 0.05). In addition, multivariate analysis confirmed the prognosis value of ALK protein expression, survivin protein expression and constitutional symptoms.

CONCLUSIONSurvivin protein expression can serve as an independent prognostic predictor of unfavorable clinical outcome in patients with ALCL, especially when ALK protein is positive.

Adolescent ; Adult ; Aged ; Biomarkers, Tumor ; metabolism ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Immunohistochemistry ; Inhibitor of Apoptosis Proteins ; Lymphoma, Large-Cell, Anaplastic ; metabolism ; pathology ; Male ; Microtubule-Associated Proteins ; metabolism ; Middle Aged ; Multivariate Analysis ; Neoplasm Proteins ; metabolism ; Prognosis ; Protein-Tyrosine Kinases ; metabolism ; Receptor Protein-Tyrosine Kinases ; Survival Analysis ; Young Adult

BACKGROUND AND PURPOSE: The aim of this study was to identify the clinical characteristics and potential mechanisms relevant to pathological proteins in Parkinson's disease (PD) patients who experience fatigue. METHODS: PD patients (n=102) were evaluated using a fatigue severity scale and scales for motor and nonmotor symptoms. The levels of three pathological proteins-α-synuclein oligomer, β-amyloid (Aβ)(1-42), and tau-were measured in 102 cerebrospinal fluid (CSF) samples from these PD patients. Linear regression analyses were performed between fatigue score and the CSF levels of the above-listed pathological proteins in PD patients. RESULTS: The frequency of fatigue in the PD patients was 62.75%. The fatigue group had worse motor symptoms and anxiety, depression, and autonomic dysfunction. The CSF level of α-synuclein oligomer was higher and that of Aβ1-42 was lower in the fatigue group than in the non-fatigue group. In multiple linear regression analyses, fatigue severity was significantly and positively correlated with the α-synuclein oligomer level in the CSF of PD patients, after adjusting for confounders. CONCLUSIONS: PD patients experience a high frequency of fatigue. PD patients with fatigue have worse motor and part nonmotor symptoms. Fatigue in PD patients is associated with an increased α-synuclein oligomer level in the CSF.
Anxiety ; Cerebrospinal Fluid ; Depression ; Fatigue* ; Humans ; Linear Models ; Parkinson Disease* ; Weights and Measures