Objective To analyze the clinical phenotype in three Chinese kindreds of familial focal segmental glomerulosclerosis (FFSGS), and to perform the exclusive gene mapping around six known genes associating with FFSGS. Methods The clinical features of all affected members in three families were analyzed. Fourteen microsatellite markers around NPHS1, NPHS2, ACTN4, TRPC6, CD2AP and WT1 loci were selected and applied to analyze the linkage in the available family members by PCR, non-denatured polyacrylamide gel electrophoresis and silver staining. By two-point linkage analysis and allele sharing analysis, exclusive gene mapping on NPHS1, NPHS2, ACTN4, TRPC6, CD2AP and WT1 were carried out in three FFSGS kindreds. Results The phenotypes of three autosomal dominant FSGS families were diversity. The ages of disease onset were at adolescence in two kindreds. However, there were two children with a very early onset of the disease in family A. The earliest age of onset was 1 year old, and the onset ages of other family members were after 25 years old. There were four patients died of uremia in three kindreds. Two other patients with uremia accepted renal transplantations. Another two patients presented renal insufficiency. The proband of family A presented high serum creatinine at 14 years old. With microsatellite markers of D19S191, D19S220, D19S224, D1S215, D1S416, D1S466, D11S1391, D11S1986 and D11S2000, two-point linkage analysis was performed in family A. The maximum two-point LOD score, 0.18 at θ=0 was obtained for the marker D11S1391; 0.18 at θ=0.1 was obtained for the marker D11S1986; 0.47 at θ=0.2 was obtained for the marker D19S220. These markers were not co-segregated with the disease loci in all affected members, indicating that there was no linkage between these markers and four FFSGS related genes (ACTN4, NPHS1, NPHS2 and TRPC6) in the kindreds. In family A, allele sharing analysis was performed using above nine microsatellite markers as well as some other markers (D19S422, D6S936 and D11S2370). There was no linkage between these markers and ACTN4, NPHS1, NPHS2, TRPC6, CD2AP and WT1 genes. In family B and C, allele sharing analysis was performed with 12 microsatellite markers (D19S191, D19S220, D19S224, D19S422, D1S215, D1S416, D1S466, D11S1391, D11S1986, D11S2000, D6S936 and D6S1566). There was no linkage between these markers and ACTN4, NPHS1, NPHS2, TRPC6 and CD2AP genes. Conclusion There was significant clinical heterogeneity in the three Chinese families with autosomal dominant FFSGS. NPHS1, NPHS2, ACTN4, TRPC6, CD2Ap and WT1 were not the disease-causing genes for family A; and NPHS1, NPHS2, ACTN4, TRPC6 and CD2AP were not the disease-causing genes for family B and C. This study implied that there may be other new locus or other genes leading to autosomal dominant FSGS.
Objective：To examine the tracking of BP from childhood to adulthood.Methods：The "Beijing children and adolescents BP study cohort" consists of 2505 subjects of 6-18 years old who were enrolled in the baseline BP investigation in 1987. Among them, 412 individuals aged 23-37 years were successfully followed up in 2005. In this study, clinical examinations and questionnaire about risk factors of CVD were carried out. Three blood pressure measurements were obtained by trained observers by use of a standardized mercury sphygmomanometer after a 5-minute sitting rest. The classification for hypertension in children and adolescents was based on the BP percentile of healthy children, which were set up during the 1987 study.Results：（1）From 1987 to 2005, the mean of systolic blood pressure (SBP) level and diastolic blood pressure(DBP) level increased with age in both males and females. The BP level increased higher among males than among females. The SBP level increased higher than the DBP level. Before puberty, the BP level increased with age in both males and females. After puberty, the accrescence of BP level was more significantly in males than in females.（2）Taking account of adult height and BMI, there was a positive correlation between the two BP levels during childhood and adulthood, (for SBP r=0.23, P<0.01 in males, and r=0.38, P<0.01 in females; for DBP r=0.29, P<0.01 in males and r=0.19, P<0.01 in females),varying by age and sex.（3）Dividing the subjects into groups according to whose SBP and DBP levels during childhood respectively, ie
Objective This study aimed to detect the method and investigate whether flow cytometry detection of minimal residual disease(MRD) in bone marrow(BM) could predict prognosis and clinically guide the risk-adjusted therapy for neuroblastoma(NB) patients. Methods Human TGW NB cell line were used to detect the immunophenotype of NB cells by flow cytometry (FCM). The FCM sensitivity of the cocktail of CD45-FITC/CD81-PE/CD56-PECy5+ in our lab was tested. The result of MRD with FCM were used to evaluate neuroblastoma contamination in BM at diagnosis, during chemotherapy. Results ⑴ The TGW cell line expressed CD56 and CD81 antigen and did not express CD45. The FCM sensitivity in our lab is 1/104.⑵ In 144 samples from 61 patients, NB cell was found in 23 of them by morphology(BM smear). All of those 23 samples were CD45-/ CD81+/ CD56+ positive by FCM. Thirty-nine BM samples was cytological negative by BM smear but with positive CD45-/ CD81+/ CD56+ by FCM. There was a statistical significant difference between the two methods（P﹤0.01）.⑶ BM samples from 31 patients were positive for neuroblastoma cell by FCM at diagnosis, eleven of them became negative after average 4 courses of chemotherapy. All of those 11 patients remained alive without evidence of disease (median23mos，range8-38mos). In contrast, twenty patients whose BM samples remained positive, eleven of them have relapsed and 1 patient died from disease(median17.5mos，range6-48mos). There was a statistical significant difference in disease-free survival between the two groups（P﹤0.01）. ⑷MRD in BM was tested by FCM before PBSC harvest for 19 advanced neuroblastoma patients. Thirteen was negative, two of them have relapsed. Eleven patients remained alive without evidence of disease (median9mos follow from transplant，range4-30mos). In contrast, another 6 patients whose BM remained positive before PBSC harvest, five of them have relapsed(median10.5mos follow from transplant，range1-21mos). There was a statistically significant difference in disease-free survival after transplant between the two groups（P﹤0.05）. Conclusion The detection of micrometastasis of NB to BM or peripheral blood using FCM had the characteristic of high sensitivity, specificity. It could evaluate the respond to treatment by monitoring the MRD of BM. Positive NB MRD in BM during therapy is an unfavourable factor.
Objective：To characterize human Norovirus infections in infants and young children with acute non-bacterial diarrhea in Beijing. Methods: Enzyme immunoassay (EIA) was used to detect human Noroviruses in stool specimens selected randomly from the specimens collected from infants and young children with acute diarrhea who visited to the affiliated Children’s Hospital from Oct 2003 to Dec 2004. Some of the specimens were tested for rotavirus by poly-acrylamide gel electrophoresis ( PAGE ). Results: Out of 167 stool specimens collected from infants and young children with acute non-bacteral diarrhea in the affiliated children’s hospital to Capital Institute of Pediatrics from October 2003 to December 2004, 46 ( 27.54% ) were Norovirus positive as determined by EIA. Among those 46 positive specimens, 20 (43.48%) were positive detected by Norovirus GI antibody and 19 (41.30%) were positive detected by Norovirus GII antibody and 7 (15.22%) were positive detected by both Norovirus GI and GII antibodies. Norovirus infection mainly occurred in children younger than 2 years old and no seasonal cluster was found. Among the 61 specimens detected by Rotavirus poly-acrylamide gel electrophoresis, 29 (47.54%) were positive. Some of the specimens detected showed positive reaction both for Norovirus and Rotavirus, suggested that these children were co-infected with these two viruses. Conclusion: Norovirus is one of major etiological agents of non-bacterial diarrhea among infants and young children in Beijing. ;
ABSTRACT Objective To investigate the prevalence of type 2 diabetes mellitus in children and adolescents in Shanghai，and to study the high risk factors of type 2 diabetes mellitus in children and adolescents in Shanghai. Methods Screening for type 2 diabetes mellitus using morning urine and blood testing among school children aged from 1l to 18 years in 12 schools in Shanghai. Results (1) 125 Children tested positive in the first urine-glucose screening and 15children tested positive in the second screening． (2)5Children were diagnosed as type 2 diabetes mellitus，the prevalence was 4.79／10,000． (3)The prevalence of type 2 diabetes mellitus was 4.34／10,000 for boys and 5.68／10,000 for girls；3.87／10,000 for those aged 11 to 14years and 5.69／10,000 for those aged l5 to 18years． (4)5 Children diagnosed as type 2 diabetes mellitus were overweight or obesity, and they a11 had DM family histories． (5)5 Children diagnosed as type 2 diabetes mellitus were a11 negative in the examination of GADAB，ICA and IAA． Conclusion Our screening program showed that the prevalence of type 2 diabetes mellitus in children and adolescents was high．The prevalence of type 2 diabetes mellitus increased with the age，and girls had a higher risk of type 2 DM compared with boys．Obesity and T2DM family history were high risk factors for type 2 diabetes mellitus in children and adolescents．
