Objective To evaluate the feasibility of cell free fetal DNA(cffDNA)-based noninvasive prenatal diagnosis,we developed a precise technique for fetal sex determining region of Y chromosome(SRY)gene detection using size-fractionated cell-free DNA in maternal plasma.Methods Peripheral blood samples were collected form 117 pregnant women.cffDNA was extracted based on a column absorbent method and isolated by agarose gel electrophoresis.A dulex-polymerase chain reaction(PCR)was used to detected SRY gene and glycerol-dehyde-phosphate dehydrogenase(GAPDH)gene.Results Both SRY and GAPDH gene were detected in 86 cffDNA samples from women bearing male fetuses.And only GAPDH gene was detected in 71 cffDNA samples from women bearing female fetuses.These results had a coincidence whit those of villus or amniotic fluid samples.The specificity and sensitivity reached 100%(117/117)and 100%(66/66),respectively.Conclusion By agarose gel electrophoresis,re-extratedand and dulex PCR,size-fractionated cell-free fetal DNA in maternal plasma can be selective enriched and used to noninvasive prenatal diagnosis of sex-linked disorders and single gene disorders.

Chondrosarcoma ; metabolism ; pathology ; surgery ; Female ; Humans ; Middle Aged ; S100 Proteins ; metabolism ; Soft Tissue Neoplasms ; metabolism ; pathology ; surgery ; Thoracic Neoplasms ; metabolism ; pathology ; surgery ; Thoracic Wall ; Vimentin ; metabolism

OBJECTIVETo explore family risk factors of overweight and obesity focusing on parental characteristics, feeding practice and lifestyle.

METHODSFive kindergartens were selected randomly from two of all the six urban districts in Beijing. The body height and weight of all the children in the 5 kindergartens were measured in light clothing and without shoes. Information on parental characteristics, dietary habits, lifestyle, and feeding practice was collected from 1173 families by parental self-report questionnaires in the 5 kindergartens. Overweight and obesity were defined according to sex- and age-specific body mass index (BMI) cut-points proposed by the International Obesity Task Force. Correlations and multivariate regression analysis was used to explore risk factors of child overweight and obesity.

RESULTSThe prevalence of overweight and obesity was 6.9% and 4.1%, respectively, among the sample children. Significantly more overweight and obese children were from obese families (15.2%) than they were from non-obese families (7.5%). Significant associations could be observed between children and parents' characteristics for BMI, frequency of eating in restaurant, television-watching hours, and physical activity hours. Parental obesity, low maternal education level and television watching for > 2 h/d were risk factors of child overweight and obesity after adjusting for sex, age, family income, and kindergarten.

CONCLUSIONSChild overweight and obesity were influenced by family environment. Strategies for prevention should include identified family risk factors.

Body Height ; Body Mass Index ; Body Weight ; Child, Preschool ; Exercise ; Feeding Behavior ; Humans ; Life Style ; Multivariate Analysis ; Obesity ; epidemiology ; Overweight ; epidemiology ; Parents ; Prevalence ; Regression Analysis ; Risk Factors ; Television

OBJECTIVETo explore a new noninvasive method for Hb Bart' s hydrops fetus by using PCR amplification efficiency discrimination between cell-free fetal DNA (cffDNA) and cell-free maternal DNA in maternal plasma.

METHODSCffDNA samples from pregnant women bearing possible Hb Bart's hydrops fetus were collected. Fluorescent PCR and capillary electrophoresis (CE) were performed. Hb Bart's hydrops fetus was conclusively identified by different peak area ratio of products.

RESULTSThe peak area ratio of 30 cffDNA samples from Hb Bart' s hydrops fetus was much less than 1. However, the ratio of cffDNA sample from hydrops fetus due to other reasons was approximately equal to 1.

CONCLUSIONBy using cffDNA fluorescent PCR and CE, a prenatal screening method for Hb Bart' s hydrops fetus was developed.

Bartter Syndrome ; diagnosis ; DNA ; blood ; Female ; Humans ; Hydrops Fetalis ; diagnosis ; Molecular Sequence Data ; Pregnancy ; Pregnancy Trimester, First ; Pregnancy Trimester, Second ; Pregnancy Trimester, Third ; Prenatal Diagnosis ; methods

OBJECTIVETo investigate the expressions of the active form of glycogen synthase kinase-3(GSK-3)-pGSK-3α/β (Tyr279/216) and its downstream moleculor X-linked inhibitor of apoptosis protein (XIAP) in cholangiocarcinoma and to analyze their correlation with clinicopathological and survival significance.

METHODSImmunohistoehemistry was used to detect the expressions of the active form of GSK-3- pGSK-3α/β (Tyr279/216) and its downstream moleculor XIAP proteins in 50 cholangiocarcinoma tissues and 20 normal bile duct tissues.

RESULTSThe positive rates of pGSK-3α/β (Tyr279/216) and XIAP were 62.0% and 68.0% in cholangiocarcinoma, and 10.0% and 25.0% in normal bile duct tissues, respectively. The intensity of pGSK-3α/β (Tyr279/216) and XIAP expressions in cholangiocarcinoma were significantly higher than that in the normal bile duct tissues (P < 0.001), and there was a significant correlation between pGSK-3α/β (Tyr279/216) and XIAP expressions (r = 0.544, P < 0.001). The expression of pGSK-3α/β(Tyr279/216) protein in cholangiocarcinoma was associated with TNM stage (P = 0.042), histological grade (P = 0.031), whereas the expression of XIAP protein in cholangiocarcinoma was correlated with CEA level (P = 0.006). Patients with positive expression of pGSK-3α/β (Tyr279/216) and XIAP demonstrate a significantly worse prognosis than that of patients with negative expression of pGSK-3α/β (Tyr279/216) and XIAP for overall survival (P = 0.002, P = 0.018). Multivariate survival analysis revealed that positive pGSK-3α/β (Tyr279/216) expression provided significant independent prognostic value for overall survival (P = 0.002).

CONCLUSIONSThe expressions of pGSK-3α/β(Tyr279/216) and XIAP proteins were significantly associated with the development and progression of cholangiocarcinoma. pGSK-3α/β(Tyr279/216) may be an important prognostic factor for survival of patients with cholangiocarcinoma.

Bile Duct Neoplasms ; metabolism ; pathology ; surgery ; Bile Ducts, Intrahepatic ; Carcinoembryonic Antigen ; blood ; Cholangiocarcinoma ; metabolism ; pathology ; surgery ; Female ; Follow-Up Studies ; Glycogen Synthase Kinase 3 ; metabolism ; Glycogen Synthase Kinase 3 beta ; Humans ; Male ; Middle Aged ; Neoplasm Grading ; Neoplasm Staging ; Prognosis ; Survival Rate ; X-Linked Inhibitor of Apoptosis Protein ; metabolism

Adult ; Blood Donors ; China ; epidemiology ; Female ; Genotype ; HIV Infections ; complications ; epidemiology ; virology ; Hepacivirus ; genetics ; Hepatitis C ; complications ; epidemiology ; virology ; Humans ; Male ; Middle Aged

OBJECTIVETo provide reliable evidence of "J in three-needle therapy" for treatment of stroke.

METHODSMulti-central randomized controlled trials were adopted, 180 hemiplegia patients of ischemic stroke were randomly divided into a fin three-needle group (90 cases) and a routine acupuncture group (90 cases). Two groups were both treated with basic neurology therapies, and J in three-needle group was treated with J in three-needle therapy, three acupoints of tempora, hand and foot etc. were selected; the routine acupuncture group was treated with traditional acupuncture, Quchi (LI 11), Huantiao (GB 30), Futu (ST 32) etc. were selected. Both groups were treated with acupuncture for 5 weeks. The cognitive function score of functional comprehensive assessment scale (FCA), the scores of mini-mental state examination scale (MMSE) and modified Barthel index (BI) were compared before and after treatment between two groups. Results After treatment, the scores of FCA, MMSE and BI in both groups were significantly improved compared to those before treatment (P < 0.01, P < 0.05); the improvement of FCA score, MMSE score and BI score in the J in three-needle group were superior to those of the routine acupuncture group after treatment (P < 0.01, P < 0.05). The total effective rate of 85.4% in the J in three-needle group was superior to tohat of 70.0% in the routine acupuncture group (P < 0.05).

CONCLUSIONJ in three-needle acupuncture treatment can obviously improve the cognitive function and activity ability of daily life of hemiplegia patients after stroke, and the therapeutic effect of J in three-needle therapy is superior to that of traditional acupuncture treatment.

Activities of Daily Living ; Acupuncture Therapy ; Adult ; Aged ; Cognition ; Female ; Hemiplegia ; etiology ; psychology ; rehabilitation ; therapy ; Humans ; Male ; Middle Aged ; Stroke ; complications

OBJECTIVETo evaluate the expression of epidermal growth factor receptor (EGFR) gene copy number and the expression of ERCC1 and BRCA1 proteins in patients with non-small-cell lung cancer (NSCLC) and the correlation between them.

METHODSThe status of EGFR gene copy number was determined by in situ hybridization (FISH), and the expression of ERCC1 and BRCC1 proteins was examined by immunohistochemistry (IHC). The relationship of EGFR gene copy number with the expression of ERCC1 and BRCA1 and the clinical pathologic features were analyzed.

RESULTSFISH-positive EGFR expression was identified in 40 of 166 samples (24.1%). More FISH-positive EGFR in the female than male patients (31.9% vs. 18.6%, P = 0.048), and non-smoker than smoker (32.8% vs. 16.7%, P = 0.045). FISH-positive EGFR was not associated with age, pathological type, clinical stage and metestasis status (P > 0.05). The expression of ERCC1 protein was identified in 60 of 132 samples (45.5%). The expression of ERCC1 protein varied significantly in tumors of different pathological types (P = 0.046), but not associated with age, gender, clinical stage, metestatic status and smoking status (P > 0.05). The expression of BRCA1 protein was identified in 46 of 131 samples (35.1%). The expression of BRCA1 was not associated with age gender, pathological type, clinical stage, metestatic ststus and smoking status (P > 0.05). There was a moderate correlation between the expressions of ERCC1 and BRCA1 (r = 0.449, P < 0.001), but EGFR gene copy number was not correlated with the expression of ERCC1 or BRCA1 protein.

CONCLUSIONSFISH-positive EGFR expression is associated with gender and smoking status, but not correlated with the expression of ERCC1 and BRCA1 proteins. There is a moderate correlation between the expressions of ERCC1 and BRCA1.

Adult ; Aged ; Aged, 80 and over ; BRCA1 Protein ; metabolism ; Carcinoma, Non-Small-Cell Lung ; genetics ; metabolism ; pathology ; DNA-Binding Proteins ; metabolism ; Endonucleases ; metabolism ; Female ; Gene Dosage ; Gene Expression Regulation, Neoplastic ; Genes, erbB-1 ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Lung Neoplasms ; genetics ; metabolism ; pathology ; Male ; Middle Aged ; Retrospective Studies ; Sex Factors ; Smoking ; Young Adult

Objective To evaluate the effectiveness of post-exposure varicella vaccination in elementary schools in Beijing and to explore its influencing factors. Methods From May to July 2007, variceila cases from 49 elementary schools in 4 districts in Beijing were observed prospectively. The study included 7882 children who were from the same classrooms, same floor or same bungalow areas with the varicella cases. Vaccination status, history on varicella and onset of rashes were collected to calculate the secondary attack rate among those children under observation and then the effectiveness of vaccine was calculated. Results The protection rate on post-exposure vaccination among children under observation was 85.26%. The rates were higher when the 1st case had received varicella vaccine before the onset, vaccines were administered soon after the exposure or there were less varicella cases occurred in the schools. For children in the same class, same floor or bungalow with varicella cases before post-exposure vaccination, the average rates of protection by vaccination were 84.26% and 87.06%, respectively. When the 1st case had received varicella vaccine prior to the onset, the post-exposure protection rates reached 92.09% and 93.06%, respectively, higher than that of the case when the 1st case had received no vaccination. When the administration of vaccine right after the occurrence of first varicella case, the rates of the effectiveness of vaccine were 83.09% and 93.02%, both of which were higher than that of vaccine administered after the occurrence of 2 or 3 cases. When the vaccine administration of vaccination combined with the isolation of the already infected cases or within 5 days after the onset of the 1st case, the vaccine effectiveness could reach 86.60% and 92.73%, both were higher than otherwise. However, in those schools that bungalows were used as classrooms but without bus, canteen from school or student lodgings, it seemed that post exposure vaccination was more effective in preventing varicella from occurring. Conclusion Varicella vaccination after exposure in elementary schools in Beijing was effective in prevention and control of the disease. Immediate administration together with the isolation of cases could maximize the effectiveness of the vacine.

OBJECTIVETo evaluate cord blood stem cell transplantation (CBT) in the treatment of X-linked agammaglobulinemia, and observe the courses of the hematopoietic and immune reconstitution.

METHODSA 14-year-old male patient with agammaglobulinemia received CBT from a 1/6 HLA-mismatched unrelated cord blood. The conditioning regimen was Bu/Cy/anti-CD3 antibody. CsA was given together with MMF and MTX for prophylaxis of GVHD. The patient received 0.42 x 10(8) nucleated cells/kg, containing 0.35 x 10(6) CD34(+) cells/kg.

RESULTSThe recipient showed hematopoietic reconstitution on day 30 post-transplantation when ANC was 0.5 x 10(9)/L and BPC 20 x 10(9)/L. Sex chromosome analysis showed engraftment (donor 46, XX/recipient 46, XY = 4:1) on day 45. The recipient's blood group changed from AB to O, IgG from 1.1 g/L to 3.5 g/L, sex chromosome from 46, XY to full 46, XX, and mature B cells in peripheral blood from 0 to 5% on day 100, indicating immune reconstitution. At the last follow-up of 360 days, the patient without acute or chronic GVHD showed normal hemogram and myelogram, IgG 13.5 g/L and 10% mature B cells in peripheral blood, indicating the hematopoiesis and immune persistent reconstitution. No acute or chronic GVHD was developed.

CONCLUSIONThis is the first case report of successful treatment of X-linked agammaglobulinemia by HLA-mismatched unrelated CBT.

Adolescent ; Agammaglobulinemia ; surgery ; Cord Blood Stem Cell Transplantation ; methods ; Graft vs Host Disease ; prevention & control ; HLA Antigens ; immunology ; Humans ; Male ; Transplantation Conditioning ; Treatment Outcome