Objective:To explore the association of its polymorphism of TFRC with the susceptibility, clinical and pathologic phenotypes of IgA nephropathy. Methods: A total of 380 patients with IgA nephropathy and 250 normal controls were enrolled in the study. The regions with 424G/A and -5184C/T polymorphism sites of TFRC were amplified by PCR from genomic DNA and then the PCR-RFLP were performed by restriction enzymes, BanⅠ and BsmA Ⅰ, respectively. The genetic association of genotypes with the clinical and pathologic phenotypes was analyzed. Results: The distribution of frequency in TFRC was consistent with Hardy-Weinberg equilibrium; however, we found no significant difference in genotypes distribution between patients and controls. There were no differences between genotypes in age, blood pressure, 24 h urine protein excretion, serum creatinine, creatinine clearance and serum IgA. 424G/A and -5184C/T polymorphisms were associated with immunofluorescent intensity of IgA deposit in mesangial area, though there was no difference in pathological lesions evaluated by HAAS grade. Conclusion: The polymorphisms of TFRC in 424G/A and -5184C/T sites were not associated with susceptibility to IgA nephropathy, but associated with density of immunofluorescence of IgA in mesangium in our large population based Chinese patients. The association of IgA nephropathy and other polymorphism sites, as well as interaction between TFRC polymorphism and other genes' polymorphisms, neededs to be further investigated.

Objective To screen for proteins interacting with novel gene AngRem104 and to identify the putative interaction of novel gene AngRem104 and Bardet-Bied1 syndrome 2 (BBS2) protein in mammalian cells. Methods The yeast strain AH109 was transformed with AngRem104pGBKT7/c-myc and yeast-mating was utilized to screen for interacting proteins with AngRem104 in pretransformed human kidney cDNA library. The human embryonic kidney (HEK 293T) cells were transformed with two recombined plasmids,AngRem104-pcDNA3.1/V5-His and BBS2-pCMV/c-myc. Mouse anti-human V5 monoclonal antibody and mouse anti-human c-myc monoclonal antibody were used in immunoprecipitation and immunoblot analysis, respectively. Results Seven proteins that interact with AngRem104, including BBS2 were identified. The AngRem104-V5 and the BBS2-c-myc fusion protein were detected respectively in the immunoprecipitation by anti-c-myc and anti-V5 antibody. Conclusion The novel gene AngRem104 may interact with BBS2 protein in mammalian cells,which provides insights as to the function exploration of novel gene AngRem104 and the pathogenesis investigation of Bardet-Biedl syndrome.

AIM: To investigate the mechanism of AngRem104-mediated regulation of fibronectin gene in human mesangial cells. METHODS: A series of deleted FN promoter sequences was constructed, which fuse to a luciferase reporter gene, and then the potential active regions that respond to AngRem104 in the upstream regulatory sequence of human FN gene was screened by detecting the luciferase activity of promoter-reporter gene. RESULTS: The detection of relative luciferase activity revealed that there was no significant differences when the HMC were transfected with FN122-reporter gene together with sense AngRem104 construct, but the luciferase activity significantly increased when transfection of FN507-reporter gene construct together with sense AngRem104 construct. However, no increase in luciferase activity was observed when transfection of FN1280-reporter gene construct together with sense AngRem104 construct. The potential regulatory region responds to AngRem104 is in the upstream sequence (-122 to -507) of human FN gene. CONCLUSION: Our preliminary study provided the evidence that AngRem104 may mediate the transcription of the FN gene via the activation of its promoter.

ObjectiveTo evaluate the clinical effectiveness of oral sensorimotor therapy on oral motor dysfunction after cerebal palsy (CP).MethodsThirty-two CP children were confirmed the type of cerebral palsy by neurological examination and developmental age by Gesell's developmental scale. Oral sensorimotor therapy was performed one time a day by speech-language therapist.Before and after a treatment period of 3 months,the oral motor and language-speech ability of each case was assessed using Oral Motor Scale and Sign-Significate relations.ResultsAfter treatment, the oral motor function had been improved significantly(t=11.946,P<0.01) and the oral motor score was meanly increased by 14.94 score.The levels of oral language comprehension and expression had also been improved significantly(t=5.376,P<0.01;t=7.552,P<0.01).Articulation of 28 cases(87.5%) was improved. ConclusionOral sensorimotor therapy is effective on improving oral motor function, articulation,as well as on increasing language comprehension and expression.

Fluorescence ; Host-Pathogen Interactions ; Luminescent Measurements ; methods ; Luminescent Proteins ; chemistry ; genetics ; metabolism ; Plant Diseases ; virology ; Plant Viruses ; chemistry ; genetics ; metabolism ; Plants ; chemistry ; genetics ; metabolism ; virology

Aged ; Anthracosis ; complications ; pathology ; Cardiomyopathy, Hypertrophic ; pathology ; Edema ; Humans ; Male ; Middle Aged ; Myocardium ; pathology ; Pulmonary Heart Disease ; etiology ; pathology

Objective To elucidate whether focal segmental glomerulosclerosis (FSGS) is a secondary development of the COL4-linked thin basement membrane nephropathy (TBMN) or the primary FSGS produces thin glomerular basement membrane (GBM). Methods The family members presented microscopic hematuria,increasing proteinuria with the years and a dual pathological diagnosis of FSGS and TBMN was made in the proband.DNA linkage analysis at locus 2q36-37 that contains the COL4A3/COL4A4 genes was performed with polymorphic micmsateilite markers D2S434,D2S279,D2S1370,D2S256 and D2S427.Haplotypes were constructed at the COL4A3/COL4A4 loci for affected and unaffected family members.All exons of COL4A3 and COL4A4 genes were screened for mutations in the proband.Mutation screening was also performed for NPHS1,NPHS2,CD2AP,WTI,TRPC6 and ACTN4 to exclude familial FSGS.Mutation or polymorphism found in the family were examined in 50 healthy controls. Results In this family hematuria segregated with the 55224 haplotype at the COL4A3/COL4A4 locus.G to A substitution at nucleotide 1214 resulting in an glycine being replaced by glutamate (G405E) was demonstrated for the first time in cxon 20 of COL4A4 gene.G4OSE was present in all four members of the family with hematuria but not in the seven unaffected family members nor in 50 healthy controls.A novel polymorphism segregating with hematuria (IVS1-4C＞T in exon 2 ofCOL4A3) was also found which was only present in all four affected family members but not in the seven unaffected family members. No mutations were demonstrated in FSGS associated genes,however,a novel SNP (R268Q),which distributed with the disease ineompletely,was described in the NPHS1 gene coding nephrin,the podocyte slit diaphragm protein. Conclusions In this family,FSGS occurres on the basis of TBMN.Maybe the particular COL4A3/COL4A4 mutation and polymorphism work together to develop proteinuria and eventually leading to FSGS.But whether the mutation and the polymorphism segregating with the disease predispose to develop FSGS in TBMN patients is required further study.

Objective: To construct sense and antisense eukaryotic expression vector of novel gene Collectrin and identify its function in cell growth. Methods: The open reading frame of Collectrin was amplified by PCR and inserted into pcDNA3.1/V5 His plasmid. The recombinant plasmid was identified by restriction enzyme analysis and sequencing analysis. The recombinant plasmid was transfected into M 1 cell by using lipofectin mediation after being identified by restriction enzyme analysis and sequencing analysis. RT PCR and Western blot were performed to identify the expression of Collectrin. ? Gal staining was used to define the effect of tansfection .The growth of M 1 cells was examined by MTT and cell counting. Results: Compared with control group, the expression of Collectrin was decreased significantly at both nucleotide and protein levels tansfected by antisense vector, but elevated in sense group. The cell growth was blocked after being transfected by antisense plasmid. Conclusion: The sense and antisense eukaryotic expression vector of novel gene Collectrin was successfully constructed. Collectrin was one of basic factors in cell growth.

The effect of obesity on idiopathic central precocious puberty (ICPP) girls is still under discussion.The relationship between body mass index (BMI) and sexual hormone levels of gonadotropin-releasing hormone (GnRH) stimulation test in ICPP girls is controversial and the underlying mechanism is unclear.This study aims to further explore the independent effect of excess adiposity on peak luteinizing hormone (LH) level of stimulation test in ICPP girls and the role of other related factors.A retrospective cross-sectional study was performed on 618 girls diagnosed as having ICPP,including 355 cases of normal weight,99 cases of overweight and 164 cases of obese.The results showed that obese group had more progressed Tanner stage and no significant difference (P=0.28) in LH peak was found as basal LH value was used as a covariate.The obese group had higher total testosterone (TT),adrenocorticotrophic hormone (ACTH),17-α hydroxyprogesterone (17-αOHP) and androstendione (AN),with significantly increased fasting insulin (FIN) and homeostasis model of assessment for insulin resistance index (HOMA-IR).Stratified analysis showed inconsistency of the relationship between BMI-standard deviation score (BMI-SDS) and LH peak in different Tanner stages (P for interaction=0.017).Further smoothing plot showed linear and non-linear relationship between BMI-SDS and LH peak in three Tanner stages.Then linear regression model was used to analyze the relationship between BMI-SDS and LH peak in different Tanner stages,with and without different confounding factors being adjusted.In B2 stage,BMI-SDS was negatively associated with LH peak.In B3 stage,when BMI-SDS ＜1.5,as BMI-SDS increased,the level of LH peak decreased (model Ⅰ:β=-1.8,95％ CI=-4.7 to 1.1,P=0.214).When BMI-SDS ≥1.5,BMI-SDS was significantly positively associated with LH peak (model Ⅰ:β=4.5,95％ CI=1.7 to 7.4,P=0.002).In B4 stage,when BMI-SDS ＜1.5,BMI-SDS was negatively associated with LH peak (model Ⅰ:β=-11.6,95％ CI=-22.7 to-4.5,P=0.049).When BMI-SDS ≥1.5,BMI-SDS was positively associated with LH peak (model Ⅰ:β=-4.2,95％ CI=-3.3 to 11.7,P=0.28).It is concluded that there is an independent correlation between BMI-SDS and LH peak of stimulation test in ICPP girls,their relationships are different in different Tanner stages,and the effect of BMI-SDS can be affected by adrenal androgens,estradiol and glucose metabolism parameters.

Objective To investigation the condition,expectation and support of quality of life in adult with intellectual disability.MethodsA total of 394 adult with intellectual disability,their parents and friends in Beijing were involved in the study.Their qualities of life were evaluated.ResultsAbout quality of life,the adult with intellectual disability had significant more expectation than they had gained actually;their parents and friends had significant more expectation than themselves and staff of primary rehabilitation did.ConclusionIt is necessary to provide support to improve the quality of life of adult with intellectual disability.