Objective To explore the correlation between phenotypes in female with X-linked Alport syndrome(XLAS) and X-inactivation of different tissues.Methods Thirty-six female diagnosed as XLAS were studied,and proteinuria was taken as a marker of the severity of clinical phenotypes.X-inactivation patterns were analyzed in peripheral blood cells of 36 XLAS female and in skin fibroblasts of 12 XLAS female.The X-inactivation analysis was performed by using Hpa Ⅱ predigestion of DNA followed by polymerase chain reaction(PCR) of the highly polymorphic CAG repeat of the androgen receptor gene.Results The average X-inactivation levels of the mutant allele decreased while the degree of proteinuria increased,so there was a negative correlation between the degree of proteinuria and the X-inactivation ratios of the mutant allele in blood cells(r=-0.543,P=0.002).However,there was no correlation between the degree of proteinuria and the X-inactivation ratios of the mutant allele in skin fibroblasts(r=-0.131,P=0.701).Conclusions X-inactivation ratios might explain partially the diverse phenotypes in XLAS female patients,which suggested that the prognosis of XLAS female might be predicted via analysis of the X-inactivation in peripheral blood cells.

Humans ; Molecular Biology ; Nephrotic Syndrome ; genetics

Collagen Type IV ; genetics ; Female ; Fetal Development ; Humans ; Nephritis, Hereditary ; diagnosis ; genetics ; Pregnancy ; Prenatal Diagnosis ; methods

Objective: To develop parental punishment style the questionnaire. Methods: Based upon previous literature about parental punishment style and expert interview, data were collected for the parental punishment style questionnaire. A sample of 1028 junior high school students were asked to complete the questionnaire and 158 of them was given retest after a month. Results: Taken from the questionnaire by exploratory factor analysis four factors were compatible. The results of confirmatory factor analysis showed a good fit to the data. The internal consistency reliability of father and mother questionnaire was satisfactory, with Cronbach ? coefficient 0.91; and the test-retest reliability was also satisfactory, with test-retest correlation coefficient 0.88 and 0.89, which showed good content validity and high construct validity. Conclusion: The questionnaire has good reliability and validity, and meets the need of psychometrics.

Objective To comprehend the awareness rate and the implementation of risk factors related to Helicobacter pylori (HP) infection in families with children of Helicobacter pylori infection.To analyze the existing problems and formulate effective methods of health education.Methods Totally 558 families infected with HP were investigated with a self-designed structured questionnaire by call-back.Results 527 did not use separate eating tools,350 did not use independent tablewares,14 drank unboiled water,14 did not use bath appliances separately,7 used tooth glasses together,4 did not wash hands before eating and after toilet,no one had mouth-to-mouth feeding.248 children with HP sleeped with their family members and 246 family members used to have HP infections or stomach troubles.Conclusions The families with HP do not establish correct ways of separate eating,so the hospital need to develop multi-channel education.Most families with HP infected children have satisfactory health habits.Nearly half of the children with HP do not sleep in their own beds.Caregivers of children with HP infection should be the capital objects of health education.

Objective To evaluate the security and biocompatibility of a new kind of absorbable high-strength PDLLA-CPP composite, which is used for internal fracture fixation. Methods According to the national standard of the procedure of appraise in food security and toxicology, micronucleus test of bone marrow cell, spermatic aberration test, chromosomal aberration test, and teratogenic test were measured with IP maximal tolerance dose of maceration extract from PDLLA-CPP composites. Meanwhile, chondrocyte culture with PDLLA-CPP composite was used to evaluate the effect of PDLLA-CPP composite on cartilage cell proliferation. Results Micronucleus test of bone marrow cell, spermatic aberration test, chromosomal aberration test, and teratogenic test were not affected by IP maximal tolerance dose of PDLLA-CPP maceration extract. PDLLA-CPP composite also had no cytotoxicity on cartilage cell proliferation. Conclusion PDLLA-CPP is a new and safe medical material with good biocompatibility and absorbability.

Juvenile idiopathic arthritis(JIA)is the most common rheumatology disease in childhood period with poor prognosis.The biological agents are newly developed drugs with features of clear therapeutic targets and fast effects.But its use in JIA is still limited,so this article focuses on the clinical use experience,timming and sideffects of the biological agents on JIA.

Objective To examine the relationship between plasma homocysteine level and status of congestive heart failure. Methods Plasma homocysteine level was determined in 106 patients with congestive heart failure(CHF).Among them,40 patients were diagnosed as having recent onset of CHF(group 1) and the remaining 66 were receiving conventional treatment(group 2).Thirty healthy subjects were served as a control group. Results(The plasma) homocysteine levels in group 1,group 2 and the control group were(14.87?5.22),(13.25?5.45) and((7.52)?1.73) ?mol/L,respectively.The plasma homocysteine level was significantly higher in group 1 and group 2 than in the control group(P

Objective To investigate the association between arsenic(+3 oxidation state) methyltransferase (AS3MT) genetic polymorphism and susceptibility to endemic arsenism.Methods Polymerase chain reactionrestriction fragment length polymorphism-single strand conformation polymorphism(PCR-RFLP-SSCP) technology was performed to detect mutations of AS3MT gene intron 8 and exon 9 in genome DNA of the 79 cases and 110 controls.PCR products with abnormal band forms were further sequenced to find the types and sites of mutation.Chi-square test and multivariate Logistic analyses were conducted.Results The incidence of the 9149 base mutation(A→C) in AS3MT gene intron 8(AS3MT-9149) in case group(19.0％,15/79) was lower than that in control group (23.6％,26/110).The incidence of the codon 287 mutation(ATG→AT/CG) in AS3MT gene exon 9(AS3MT-287)in case group(10.1％,8/79) was lower than that in control group (11.8％,13/110).However,statistical analysis indicated no significant difference in both mutations between two groups[AS3MT-9149:odds ratio(OR) =0.59,95％ confidence interval(CI):0.26-1.31,P =0.195; AS3MT-287:OR =0.85,95％ CI:0.32-230,P =0.751].Conclusions There are no significant association between the genetic polymorphisms of AS3MT-9149,AS3MT-287 and the susceptibility to endemic arsenism.Similarly,due to small sample amount,we can not exclude the possibility that these gene polymorphisms are related to susceptibility to endemic arsenism.

Grass carp reovirus (GCRV), a disaster agent to aquatic animals, belongs to Genus Aquareovirus of family Reoviridea. Sequence analysis revealed GCRV genome segment 8 (s8) was 1296 bp nucleotides in length encoding an inner capsid protein VP6 of about 43kDa. To obtain in vitro non-fusion expression of a GCRV VP6 protein containing a molecular of fluorescence reporter, the recombinant baculovirus, which contained the GCRVs8 and eGFP (enhanced green fluorescence protein)genes, was constructed by using the Bac-to-Bac insect expression system. In this study, the whole GCRVs8 and eGFP genes, amplified by PCR, were constructed into a pFastBacDual vector under polyhedron (PH) and p10 promoters, respectively. The constructed dual recombinant plasmid (pFbDGCRVs8/eGFP) was transformed into DH10Bac cells to obtain recombinant Bacmid (AcGCRVs8/eGFP) by transposition. Finally, the recombinant bacluovirus (vAcGCRVs8/eGFP) was obtained from transfected Sf9 insect cells. The green fluorescence that was expressed by transfected Sf9 cells was initially observed 3 days post transfection, and gradually enhanced and extended around 5days culture in P1(Passage1) stock. The stable high level expression of recombinant protein was observed in P2 and subsequent passage budding virus (BV) stock. Additionally, PCR amplification from P1 and amplified P2 BV stock further confirmed the validity of the dual-recombinant baculovirus. Our results provide a foundation for expression and assembly of the GCRV structural protein in vitro.