Purpose:To study the expression and significance of Fas/FasL in lung cancer.Methods:The expression of Fas/FasL was detected in 42 cases of non-small-cell lung cancer by immunohistochemistry. Results:Out of 42 cases, Fas was positive in 22 cases (52.3%) and FasL was positive in 24 cases(57.1%), there was no correlation between the expression of Fas and FasL. The expression of Fas/FasL was not different in squamous cell carcinoma and adenocarcinoma. The stage of lung cancer had a positive correlation with the expression of FasL, while was no correlation with Fas expression.Conclusions:The expression of Fas/FasL in lung cancer may play an important role in the escape of tumor cells from immune function and FasL is worthy of further research in metastasis of lung neoplasms.

OBJECTIVE To investigate dynamically antibiotic resistance changing of Escherichia coli in Hubei province and provide the reference for clinical rational application of antibiotics.METHODS The WHONET4-5 software was used to analyze the antibiotic resistant rates of 2901 strains of E.coli isolated from all kinds of clinical specimen of children from 2003 to 2006 in the third grade hospitals of Hubei province.RESULTS Drug-resistance rate of E.coli in children group was lower than that in adult group.Except for 100.0% susceptibility to carbopenems such as imipenem and Meropenem,in the four years,drug-resistance of the other antibiotics showed ascending tendency.Ampicillin showed the highest drug-resistance rate(84%-90%).The lower(3%-25%) were amikacin,cefoxitin,ceftazidime,cefepime.CONCLUSIONS Antibiotic resistance of E.coli in children in Hubei province showed the ascending tendency.We should take effective measurement to control the spread and prevalence of the drug-resistant bacteria.

OBJECTIVE To approach biosafety risks in laboratory department of children′s hospital to formulate the managemen strategy.METHODS The existing biosafety risk in laboratory department of children′s hospital was investigated and analyzed.RESULTS A series of problems such as personnel′s biosafety consciousness,work environment,protection equipment,a medical orderly′s training,etc were existing.CONCLUSIONS Biosafety regulations should be executed strictly in children′s hospital,and biosafety management should be highly paid attention to and consummated.

OBJECTIVE To study the distribution of drug-resistant gene of meticillin-resistant coagulase negative Staphylococcus(MRCNS) in children septicemia.METHODS The total MRCNS isolates were 40,and whether in there harbored genes mec,erm and qac was studied.RESULTS Among 40 CNS strains,in there harbored genes mec,erm,and qac were 38(95.0%),30(75.0%) and 18(45.0%),respectively.CONCLUSIONS MRCNS in children septicemia where harbor drug resistance genes is very serious,so we should pay great heed to its effective control.

Objective To explore the relationship between the polymorphism of methionine synthase reductase(MTRR) A66G and the susceptibility to unexplained repeated spontaneous abortion (URSA).Methods Total of 200 Henan Han couples with URSA (URSA group) and 76 Henan Han healthy couples without URSA (control group)were enrolled in this study.Their MTRR A66G genotypes were determined by PCR restriction fragment length polymorphism (PCR-RFLP).Results (1) The allele frequencies of MTRR A66G:the frequencies of allele A and allele G in URSA group were 76.5％ (153/200)in husband and 72.8％ (146/200) in wife,23.5％ (47/200) in husband and 27.2％ (54/200) in wife,respectively.The frequencies of allele A and allele G in control group were 78.9％ (60/76) in husband and 78.3％ (59/76) in wife,21.1％ (16/76) in husband and 21.7％ (16/76) in wife,respectively.The frequencies of allele A and allele G were not significantly different between female and male subjects within the same experimental group (P ＞ 0.05),and also there were not significantly different between the same gender subjects at URAS and control groups(P ＞ 0.05).(2) The genotype frequencies of MTRR A66G:the frequencies of genotype AA,AG and GG in URSA group were 57.0％ (114/200) in husband and 52.0％ (104/200) in wife,39.0％ (78/200) in husband and 41.5％ (83/200) in wife,4.0％ (8/200) in husband and 6.5％ (13/200) in wife,prepectively.The frequencies of genotype AA,AG and GG in control group were 59.2％ (45/76) in husband and 59.2％ (50/76) in wife,39.5％ (30/76) in husband and 38.2％ (29/76) in wife;1.3 ％ (1/76) in husband and 2.6％ (2/76) in wife,prepectively.The frequencies of genotype AA,AG and GG were not significantly different between female and male subjects within the same group (P ＞ 0.05),and also there were not significantly different between the same gender subjects at URSA and control groups (P ＞0.05).(3) Combined genotype of couples:the combined genotype frequencies of GG + GG,GG + AG,GG +AA,AG + AG,AG + AA and AA + AA in URSA group were 1.0％ (2/200),2.5％ (5/200),6.0％ (12/200),20.0％ (40/200),38.0％ (76/200),and 32.5 ％ (65/200),prepectively ; the combined genotype frequencies in control group were 0,1.3％ (1/76),2.6％ (2/76),17.1％ (13/76),42.1％ (32/76),36.8％ (28/76),prepectively.The combined genotype analysis between the two groups were also not significantly different (P ＞ 0.05).Conclusion The polymorphism of MTRR A66G gene was not associated with the susceptibility to URSA (P ＞ 0.05),and so it was not the inherited genetic risk factor of URSA.

Objective To explore the neuroimmunomedulation mechanism of ICAM-1 and LFA-1 in children with febrile seizures (FS).Methods 40 children with FS were dividedinto simple FS(SFs)groupin20 cases and complex FS(CFS)groupin20 cases,and 30 health children matched with regard to age and sex were enrolled into control group.The real-time fluorescence quantitative PCR wag used to detect the expression of PBMC ICAM-1 mRNA.At the same time,the PBMC LFA-1 mRNA expression wfs studied with Send-QuantitativeRT-PCR analysis.Results The levels of PBMC ICAM-1 mRNA in SFS group were significantly higher than those in control group and CF$group(P<0.05).The levels ofPBMC ICAM-1 mRNA showed downtrend between CFS group and control group.but there was no statistical difference between the two groups(P>0.05).The levels of PBMC LFA-1 mRNA grey-scales in SFS group were significantly higher than those in control group and CFS group(P<0.05).In addition,the levels of PBMC LFA-1 mRNA in CFS group showed downtrend than those in control group,but there wti8 no statistical difference between the two groups(P>0.05).Conclusions The gene expression levels of PBMC ICAM-I/LFA-I in SFS group were different from those in CFS group.Inflammable immunopathology damage induced by ICAM-1/LFA-1 may play an important role in the pathogenesis of SFS.On the contrary,ICAM-1/LFA-1 may have seme neuroprotective effects on the pathogenesis of CFS.

Objective The purpose of the study was to investigate the changes and clinical significance of matrix metalloproteinase (MMP)-1,MMP-3,tissue inhibitor of metalloproteinase (TIMP),interleukin (IL)-1,tumor necrosis factor (TNF)-α and transforming growth factor(TGF)-β in juvenile idiopathic arthritis (JIA).Methods Thirty-two JIA subjects and 28 controls (traumatic arthritis patients) were included into this study.The MMP-1,MMP-3,TIMP,IL-1,TNF-α and TGF-β level in the serum and synovia were assessed by ELISA.The WBC count,the level of CRP,ESR,RF were also detected.Independent t-test and Pearson's analysis were adopted for data analysis.Results ① The level of MMP-1,MMP-3,IL-1 and TNF-α in the serum was (158±67) ng/ml,(212±89) ng/ml,(39±19) pg/ml,(26±10) pg/ml respectively,which was significantly higher than that of the control group (all P＜0.05) ; the ratio of MMP-3/TIMP-1 (0.86±0.32) was higher in the study group than that of the control group (P＜0.05),while the value of TIMP-1,TGF-β was (248±88),(17±9) ng/ml respectively,which was lower than that of the control group (P＜0.05).The value of seral MMP-3,MMP-3/TIMP-1 was positively correlated with that of WBC,CRP,ESR in the JIA group (all P＜0.05).② The value of MMP-1,MMP-3,IL-1 and TNF-α in the synovia was (216±78) ng/nl,(766±291)ng/ml,(56±21) pg/ml,(36±14) pg/ml respectively,which was higher than that of the control group (all P＜0.05); the ratio of MMP-3/TlMP-1 (2.68±0.89) was higher than that of the control group (P＜0.05),while the value of TIMP-1,TGF-β was (286±88) ng/ml,(12±4) ng/ml respectively,which was lower than that of the control group (all P＜0.05).③ The value of MMP-1,MMP-3,TIMP-1,IL-1 and TNF-α in the synovia was higher than that in the serum (all P＜0.05),while the value of TGF-β was lower than that in the serum (P＜0.05).Conclusion The value of MMP-1,MMP-3,IL-1 and TNF-α increases both in the serum and synovia,while the value of TIMP-1 decreases.The value of TGF-β decreases,which may have protective effect on JIA.The ratio of MMP-3/TIMP-1 in the serum is positively correlated to inflammation parameters,which may be used to judge the activity of illness in JIA.

Objective:To investigate the genetic etiology of a child with epilepsy accompanied by motor retardation.Methods:A patient with epilepsy and motor retardation in Henan Provincial People′s Hospital in January 2020 and his parents′ peripheral blood 2 mL were collected.G-banded karyotyping and array-based comparative genomic hybridization (aCGH) were used to analyze the duplication / deletion of chromosome segments in child and her pa-rents.Results:The karyotype of the patient revealed 46, XX, and add(19)(p13.3→qter), whereas aCGH detected a 9.50 Mb duplication at 19q13.33q13.43[arr(hg19)(49593920_59092570)×3]. This region contains 471 genes.No abnormality was discovered in the karyotyping and aCGH analysis of the patient′s parents.The phenotypes of the patient conformed to the previously reported clinical characteristics of 19q13.3 duplication.Conclusions:The de novo 19q13.3 duplication is the cause of epilepsy and motor development retardation for the patient.Combined with aCGH, the traditional G banding is valuable to diagnose the patient with developmental delay.

Objective To investigate the clinical value of non-invasive prenatal diagnosis using cell free fetal DNA(cff-DNA)in maternal blood.Methods From Sep.2010 to Mar.2012,103 pregnant women who came to Henan Province People's Hospital in the first trimestcr for prenatal diagnosis of scx-linked inherited diseases were included in the first trimester group.From Oct.2010 to Jan.2012,205 pregnant women undergoing amniotic fluid sampling for fetal karyotype analysis in the same hospital were included in the second trimester group.Real time quantitative PCR and fluorescent PCR were used to detect sex determining region of Y chromosome gene(SRY)and amelogenin gene(AML)on cff-DNA of the first trimester group.Moreover,12 Y chromosome STR loci analysis were performed for 33 male fetuses and their fathers.Massively Parallel Signature Sequencing(MPSS)was used for aneuploidy analysis in cff-DNA of the second trimester group.Results(1)In the first trimester group,there were 53 SRY positive and 50 SRY negative.Compared with the results of cff-DNA of chorionic villus samples,there was one SRY false positive and one false negative results,with a sensitivity of 98％ and specificity of 98％.For the AML gene test,there were two PCR products of male fetuses:102 bp fragment originating from X chromosome(AML X)and 108 bp fragment from Y chromosome(AML Y);but only AML X was found in products from female fetuses.In the first trimester group,102 bp and 108 bp fragments were detected in 52 cases,and only 102 bp fragment was found in the other cases.Compared to AML results from chorionic villus samples,there were 2 false negative results,with a sensitivity of 96％ and specificity of 100％.(2)For cff-DNA with plasma SRY over 30 copy/ml,Y STR loci were analyzed on cff-DNA of 33 fetuses and their fathers.The Y STR loci less then 200 bp were successfully detected,while Y STR loci with PCR products between 200-300 bp showed low signal or could not be amplicated;and no PCR products more than 300 bp were detected from cff-DNA.Comparing the detected Y STR loci of cff-DNA to the fathers,32 fetuses were concordant with their fathers'.Exogenous contamination was found in the rest one sample.(3)In the second trimester group,6 fetuses with abnormal karyotype(two trisomy 21,three trisomy 18 and one 45,XO)were detected by cff-DNA and were proved by karyotype analysis.Moreover,the MPSS results of cff-DNA revealed one 45,Y and one trisomy 16 whose karyotype analysis showed normal results.And in one case,MPSS suggested less chrX or chrY,that was proved to be 47,XYY by karyotype analysis.Conclusions(1)Cff-DNA in maternal blood can be used to determine fetal gender in early prenancy with considerable sensitivity and specificity.But the trace cff-DNA and the high maternal DNA background might have impact on the result.(2)Analysis of cff-DNA in maternal blood of the second trimester women showed that MPSS could be used for prenatal screening of trisomy 21 and trisomy 18.However,further research should be done for other chromosomes aneuploidy detection.

OBJECTIVETo identify the gene causing hereditary multiple exostoses in a Chinese pedigree.

METHODSLinkage analysis was carried out in the family using microsatellite markers close linkage to the EXT1 and EXT2 genes to define the candidate gene. Then the whole coding sequence and the intron-exon boundaries of the candidate gene were amplified and sequenced.

RESULTSThe disease-causing gene of the family was linked to the EXT2 gene. A nonsense mutation of 536G>A in exon3 of the EXT2 gene was detected, which was co-segregated with the disease phenotype. The mutation resulted in a stop codon in codon 180. A nonpenetrant case was found in the family.

CONCLUSIONThe mutation 536G>A in the EXT2 gene is the disease-causing mutation in the pedigree with hereditary multiple exostoses.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; China ; Codon, Nonsense ; Exostoses, Multiple Hereditary ; genetics ; Female ; Humans ; Infant ; Male ; Molecular Sequence Data ; N-Acetylglucosaminyltransferases ; genetics ; Pedigree ; Young Adult