Objective To investigate whether the vohage-gated chloride channel CLC-2 gene— CLCN2 is associated with idiopathic generalized tonie-clonic seizures(often called a grand mal seizure, GME)of Jinuo people and Han people from Yunnan province.Methods Three regions,including Intron 2, Exon 5 and Exon 19(Intron 18),of CLCN2 were selected to conduct sequence analysis.The case-control study design was used to detect association between gene polymorphism and idiopathic generalized tonic- clonic seizures of Jinuo people and Han people from Yunnan province.Results No previously reported susceptible mutations were found in Intron 2,Exon 5 and Exon 19 in Jinuo people and Han people from Yunnan province.However we found a single nucleotide polymorphism(SNP)at site 146 of Intron 18. Case-control study were carried out,using this SNP.Distribution of the 3 genotypes(TT,TC,CC)has a significant difference between the IGTCS patients of Han people and the normal controls of Han people(9, 3,29 cases and 22,9,26,respectively,x~2=16.079,P

OBJECTIVETo investigate the effect of curcumin (Cur) on histone deacetylase (HDAC1) and P21(WAF1/CIP1), a cyclin dependent kinase inhibitor, in HepG2 cells for exploring the mechanism of Cur in anti-cancer.

METHODThe HDAC1, P21(WAF1/CIP1) proteins and P21(WAF1/CIP1) mRNA were extracted from human hepatoma cells treated with or without Cur of different concentrations at different time points. Western blot analysis was performed to determine the levels of HDAC1 and P21(WAF1/CIP1) proteins, respectively. RT-PCR was performed to detect the level of P21(WAF1/CIP1) mRNA.

RESULTThe IC50 of concentration treated by Cur was 25 micromol x L(1) on HepG2 cell. The level of HDAC1 was obviously inhibited by Cur, and decreased at 4 hours at IC, and lasted for 48 h in a time-dependent manner. The inhibition of HDAC1 was significant at the Cur concentration of 12.5 micromol x L(-1) but there was no difference between 50 and 100 micromol x L(-1). The levels of P21(WAF1/CIP1) mRNA and protein were up-regulated by Cur in dose and time-dependent manner, and the change of mRNA and protein was detected at 8 hours and lasted for 48 hours.

CONCLUSIONCur can inhibit the level of HDAC1 and enhance the expression of P21(WAF1/CIP1) protein and mRNA, and the results suggest that inhibiting HDAC1 and increasing P21(WAF1/CIP1) may be one of the possible mechanisms of anti-cancer by Cur.

Blotting, Western ; Carcinoma, Hepatocellular ; genetics ; metabolism ; pathology ; Cell Line, Tumor ; Curcuma ; chemistry ; Curcumin ; administration & dosage ; isolation & purification ; pharmacology ; Cyclin-Dependent Kinase Inhibitor p21 ; genetics ; metabolism ; Dose-Response Relationship, Drug ; Gene Expression Regulation, Neoplastic ; drug effects ; Histone Deacetylase Inhibitors ; Histone Deacetylases ; metabolism ; Humans ; Liver Neoplasms ; genetics ; metabolism ; pathology ; Plants, Medicinal ; chemistry ; RNA, Messenger ; biosynthesis ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Time Factors

OBJECTIVETo analyze clinical features of 4 families with hereditary hemorrhagic telangiectasia (HHT) and potential mutations of ENG, ACVRL1 and SMAD4 genes.

METHODSFour unrelated HHT patients and their affected family members were analyzed. All exons and flanking regions of ENG, ACVRL1 and SMAD4 genes were analyzed with PCR and direct sequencing and multiplex ligation-dependent probe amplification (MLPA) methods.

RESULTSEleven patients from the 4 families were enrolled in this study. Two ENG and 1 ACVRL1 mutations were identified, among which an ENG mutation (c.207G>A; p.L69L) and an ACVRL1 mutation (c.817C>T; p.L273L) have been previously reported. In addition, a novel ENG mutation (c.1004A>T; p.Q335L) has been found in 3 different families. Similar mutations were not detected in 200 healthy individuals. No mutations of ENG, ACVRL1 and SMAD4 were found in the fourth family.

CONCLUSIONA novel mutation c.1004A>T (p. Q335L) of ENG has been identified in patients with HHT. And there is significant phenotypic variability and genetic heterogeneity with the disease.

Activin Receptors, Type II ; genetics ; Adolescent ; Adult ; Amino Acid Sequence ; Antigens, CD ; genetics ; Endoglin ; Female ; Genetic Testing ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Receptors, Cell Surface ; genetics ; Smad4 Protein ; genetics ; Telangiectasia, Hereditary Hemorrhagic ; diagnosis ; genetics

OBJECTIVETo discuss the pathological characteristics of cervical spinal fracture complicating ankylosing spondylitis (AS) and the effect of combined anterior and posterior operation.

METHODSEighteen AS patients with traumatic cervical fracture-dislocation were treated operatively from January 2000 to January 2006. The symptom duration of AS was 14.5 years on average. Three cases had undergone osteotomy in lumbar spine. There were 4 cases of Grade A, 3 cases of Grade B, 9 cases of Grade C and 2 cases of Grade D according to Frankel's score. There were 15 cases of Grade III dislocation and 3 cases of Grade II. All patients underwent surgical procedures by combined anterior and posterior approach.

RESULTSThere were 4 anterior-posterior procedures, 8 anterior-posterior-anterior procedures and 6 posterior-anterior procedures. Seven patients had one stage operation and 11 cases underwent two stage surgeries. There was certain extent of neurological improvement in 14 incomplete paraplegic patients, but no improvement in 4 complete paraplegic patients. The follow-up period was 21.2 months on average and the time for bone fusion was 3.6 months. There were 4 complications during operation and a long-term complication in follow-up.

CONCLUSIONSThe study suggests that anterior combined with posterior approach makes the spine stable and relieves the pressure immediately. It is a reasonable surgical strategy for treatment of cervical spinal fracture-dislocation with AS.

Adult ; Cervical Vertebrae ; injuries ; Humans ; Joint Dislocations ; surgery ; Male ; Middle Aged ; Postoperative Complications ; etiology ; Retrospective Studies ; Spinal Fractures ; surgery ; Spondylitis, Ankylosing ; complications

Objective To investigate the prognostic sequelae in neontes with hypoxic-ischemic encephalopathy (HIE) and ven-tricnlar dilatation.Methods Seventy-six full term newborns infants with HIE were followed up at the age from 3 to 19 months after therapy. Twenty-five infants among them were followed up by telephone in the epidemic period of SARS.Results Among 76 infants of 88 newborn infants with HIE(84.6%), 73 infants were normal (96.1% ). 1 infant had cerebral palsy (1.3%), 2 infants died (2.6 %).Among 39 cases with mild HIE, none of them had cerebral sequelae; among moderate HIE. 1 infant had cerebral palsy (2.9%) 1 infant died (2. 9 %), interlenkin-4 among severe HIE 50 % died (P00.5 The poor outcome of HIE in those infants were related to intrauterine growth retardation,severe birth asphyxia;and inadequate treatment.Cranial ultra-sonography of 49 infants were done on follow-up,and 12 of them (24.5 % ) had ventricular dilatations, which appeared after birth with 6 infants. Others occurred on follow-up with 1 infant had cerobral palsy,all ventricular dilatations recovered to normal at 12- 19 months except the cerebral palsy.Conclusions The poor outcome of HIE depends on the infants with intranterine growth relarda-tion,severe birth asphyxia and inadequate treatment.The prognosis of transient ventrealar ddatation are good except cerebral palsy.J Appl Clin pediatr,2004,19(12) : 1045- 1047

OBJECTIVETo calculate heritabilities of personality disorders (PDs) in twin population.

METHODSBased on informed consent, we used Personality Diagnostic Questionnaire (fourth-version) as our screening tool to study the adult twins (aged 20 - 70 years) in Qingdao city. There were 324 twin pairs whose zygosity had been determined. Structural equation modeling was used to estimate the heritabilities by 242 same-sex twin pairs.

RESULTSThe best-fitting models yielded a heritability of 68.26% (60.26 - 74.78) of overall PDs, 59.00% (49.22 - 67.17) of cluster A, 64.99% (56.24 - 72.16) of cluster B, and 63.66% (54.72 - 71.02) of cluster C. There were significant genetic effects for schizotypal, narcissistic and dependent, explaining 49.96% (37.94 - 60.14), 52.89% (41.85 - 62.24) and 68.87% (60.80 - 75.40) of the variance respectively. No genetic effects were found on Histrionic, but common environmental effect accounted for 54.08% (44.50 - 62.43) of the total variances.

CONCLUSIONPD was mainly determined by genetic factor. These findings may provide evidence for future research on PD.

Adult ; Aged ; Analysis of Variance ; China ; Cluster Analysis ; Diseases in Twins ; genetics ; Environment ; Genetic Predisposition to Disease ; Humans ; Middle Aged ; Models, Genetic ; Personality Disorders ; genetics ; Personality Inventory ; Risk Factors ; Surveys and Questionnaires ; Young Adult

OBJECTIVEDevelopment and application of a real time fluorescent quantitative PCR (FQ-PCR) assay for detecting WU polyomavirus in children with low respiratory tract infections.

METHODSThe VP2 gene of WU polyomavirus was selected as the detection target, from which the real time primers and probes were designed. The standard curve was established by using recombinant plasmid as template. And the FQ-PCR assay for specific detection of WU polyomavirus was established. The specificity, sensitivity and reproducibility of the method were evaluated. Furthermore, the clinical specimens from children with respiratory tract infections collected in Wenling First People's Hospital were quantitatively detected using this method.

RESULTSIn this study, the FQ-PCR method was established to detect a specific fragment in VP2gene of WU polyomavirus. The standard curve coefficient R2 was 0.998. And this method can detect as low as 50 copies recombinant plasmid. The clinical specimens of sputum and throat swab from children with respiratory tract infections were quantitatively detected using this method. 7 sputum specimens were detected as WU polyomavirus positive in 700 sputum specimens, the positive ratio was 1.00%. No positive specimens were detected in 146 specimens of throat swabs and 846 blood samples from same patient population.

CONCLUSIONThe results indicated that the FQ-PCR assay method established in this study was specific, rapid and sensitive for detecting WU polyomavirus in children with lower respiratory tract infections. The sputum specimen is more suitable to be used for gene detection of WU polyomavirus than throat swab or blood.

Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Polyomavirus ; isolation & purification ; Real-Time Polymerase Chain Reaction ; methods ; Respiratory Tract Infections ; virology ; Sputum ; virology

OBJECTIVETo observe the effects of Huganjiexian decoction on rat hepatic fibrosis and the creation of cytokines.

METHODSRat hepatic fibrosis was induced by intraperitoneally injection of carbon tetrachloride. At the same time, these rats were treated with different dosages of Huganjiexian decoction. Sho-saiko-to compound treating group and Fufangbiejiarangan Tablets treating group were used as positive controls. After twelve weeks, all rats were executed. Histopathologic changes were observed after H.E and Masson stainings. The expression of collagen type I, collagen type III, TGF-beta 1 and PDGF-BB in liver were detected by immunohistochemical staining.

RESULTSCompared with fibrotic group, hepatic fibrosis in decoction groups was significantly improved. In decoction groups, levels of collagen type I, collagen type III, TGFbeta1 and PDGF-BB were decreased, especially in the low-dose curcumin group. The TGF-beta 1 positive percentage were 7.56%+/-2.18%, 29.25%+/-7.84%, 13.54%+/-4.15%, 21.82%+/-6.64%, 20.06%+/-7.14%, 13.78%+/-4.35%, 12.75%+/-3.98% in liver tissues from normal group, model group, low, middle, high curcumin, Sho-saiko-to compound and Fufangbiejiarangan Tablets treating groups respectively (P less than 0.05); while the PDGF-BB positive percentage were 1.68%+/-0.41%, 11.70%+/-2.28%, 3.65%+/-0.76%, 5.24%+/-1.04%, 6.37%+/-1.12%, 4.16%+/-0.61%, 3.38%+/-0.56% in liver tissues from those groups respectively (P less than 0.05).

CONCLUSIONHuganjiexian decoction can improve rat hepatic fibrosis, possibly via inhibiting the expression of collagen type I, collagen type III, TGFbeta1 and PDGF-BB.

Animals ; Collagen Type I ; metabolism ; Collagen Type III ; metabolism ; Drugs, Chinese Herbal ; pharmacology ; Liver Cirrhosis ; drug therapy ; metabolism ; Male ; Medicine, Chinese Traditional ; Phytotherapy ; Platelet-Derived Growth Factor ; metabolism ; Proto-Oncogene Proteins c-sis ; Rats ; Rats, Sprague-Dawley ; Transforming Growth Factor beta1 ; metabolism

OBJECTIVEIn mid-July 2005, five patients presented with septic shock to a hospital in Ziyang city in Sichuan, China, to identify the etiology of the unknown reason disease, an epidemiological, clinical, and laboratory study were conducted.

METHODSAn enhanced surveillance program were established in Sichuan, the following activities were introduced: active case finding in Sichuan of (a) laboratory diagnosed Streptococcus suis infection and (b) clinically diagnosed probable cases with exposure history; supplemented by (c) monitoring reports on meningococcal meningitis. Streptococcus suis serotype 2 infection was confirmed by culture and biochemical reactions, followed by sequencing for specific genes for serotype and virulence factors.

RESULTSFrom June 10 to August 21, 2005, 68 laboratory confirmed cases of human Streptococcus suis infections were reported. All were villagers who gave a history of direct exposure to deceased or sick pigs in their backyards where slaughtering was performed. Twenty six (38%) presented with toxic shock syndrome of which 15 (58%) died. Other presentations were septicaemia or meningitis. All isolates were tested positive for genes for tuf, species-specific 16S rRNA, cps2J, mrp, ef and sly. There were 136 clinically diagnosed probable cases with similar exposure history but incomplete laboratory investigations.

CONCLUSIONAn outbreak of human Streptococcus suis serotype 2 infections occurred in villagers after direct exposure to deceased or sick pigs in Sichuan. Prohibition of slaughtering in backyards brought the outbreak to a halt. A virulent strain of the bacteria is speculated to be in circulation, and is responsible for the unusual presentation of toxic shock syndrome with high case fatality.

Animals ; Bacteremia ; epidemiology ; microbiology ; China ; epidemiology ; Disease Outbreaks ; Humans ; Meningitis, Bacterial ; epidemiology ; microbiology ; Shock, Septic ; epidemiology ; microbiology ; Streptococcal Infections ; epidemiology ; microbiology ; veterinary ; Streptococcus suis ; isolation & purification ; Swine ; Swine Diseases ; microbiology

OBJECTIVE: To explore the DNA methylation sites correlated with blood pressure (systolic blood pressure, diastolic blood pressure, mean arterial pressure, pulse pressure) in adult twin population. METHODS: A total of 476 twins from the Chinese National Twin Registry were selected as the research population. Questionnaires were used to collect demographic characteristics, lifestyle, disease status and other information, and blood pressure, height, weight and other anthropometric indicators were measured. The genome-wide DNA methylation of whole blood samples was detected by using Infinium HumanMethylation450 BeadChip. The DNA methylation sites correlated with blood pressure were analyzed by constructing mixed effect model with adjusting potential confounding factors, and the significant level was false discovery rate <0.05. RESULTS: After data quality control, 465 twins (122 pairs of monozygotic twins, 104 pairs of dizygotic twins, 13 individuals from 13 pairs of twins) aged (44.8±13.2) years were finally enrolled. There were more males and more monozygotic twins, and the current smokers and current regular drinkers both accounted for more than 30%. No significant CpG site was found after multiple testing in the correlation study between genome-wide DNA methylation and blood pressure by using the collected twins. However, the cg07761116 located on chromosome 10 had low P value in the correlation analysis of 3 blood pressure indices (systolic blood pressure, diastolic blood pressure, mean arterial pressure), suggesting that this site might be correlated with blood pressure. The other 7 sites had low P value in the correlation analysis of the two blood pressure indices, respectively, which pointed to genes involved in neurological development, protein homeostasis, inflammatory reaction and other pathways. CONCLUSION There is no sufficient evidence to support any DNA methylation site correlated with blood pressure, which may be caused by insufficient sample size and other reasons. This study could provide a reference for subsequent similar twin studies, and subsequent studies can focus on the cg07761116 located on chromosome 10 and other sites with low P values.
Adult ; Blood Pressure ; Body Weight ; CpG Islands ; DNA Methylation ; Female ; Humans ; Male ; Middle Aged ; Twins, Monozygotic