Objective To investigate the value of ultrasonic elastography(UE) in diagnosing breast small masses (diameter≤10 mm). Methods The static sonograms of conventional ultrasound(US) and UE of the 274 breast small lesions which pathologically proved were reviewed. Images were assigned according to the B1-RADS criteria for US. The elastographic images were evaluated using improved 5-scoring system.Pathology was followed up as diagnostic criteria. The diagnostic performance of the 2 methods was evaluated with receiver operating characteristic curve(ROC). Results The areas under the ROC curve of the two modalities were 0. 891 (UE) and 0.742 (BI-RADS), respectively. The difference between them was significant. Conclusions UE is helpful in differentiating between malignant and benign breast small lesions.

OBJECTIVETo study the value of iron metabolism indices, serum iron (SI), total iron blinding capacity (TIBC) and transferring (Tf), in thalassema.

METHODSThe serum samples from 9 children with silent alpha thalassema, 56 with standard alpha thalassema, 26 with HbH disease, 40 with beta+ thalassema, 56 with beta0 thalassema, 45 with iron deficiency anemia (IDA) and 70 healthy children were detected for SI, TIBC and Tf levels.

RESULTSThe SI level increased (p<0.01), while the TIBC level decreased significantly in the beta0 thalassema group compared with those in the other groups (p<0.05 or 0.01), but the Tf level was not different. The Tf level of both the silent alpha thalassema and the standard alpha thalassema groups was statistically lower than that of the healthy group (p<0.01), but the levels of SI and TIBC were similar to the healthy group. Though the SI level of the HbH disease group was similar to the healthy group, the TIBC and Tf levels were statistically lower (p<0.01).

CONCLUSIONSCompared with Tf, SI and TIBC are better indices for monitoring iron loading in children with thalassema. The increased SI level and decreased TIBC level are two indices for the diagnosis of beta(0) thalassema in children with cellule anaemia.

Adolescent ; Anemia, Iron-Deficiency ; metabolism ; Child ; Child, Preschool ; Female ; Genotype ; Humans ; Infant ; Iron ; metabolism ; Male ; Thalassemia ; genetics ; metabolism ; Transferrin ; analysis

OBJECTIVETo determine the molecular defects of beta-thalassemia intermedia in Guangdong Province and to provide basis for gene diagnosis and gene therapy of this disorder.

METHODSDNA analysis of the alpha, beta and gamma globin genes was performed in 18 children with beta-thalassemia intermedia from Guangdong Province using polymerase chain reaction (PCR), microarray technique, Southern blot and direct sequencing.

RESULTSOf the 18 patients,one was identified as the homozygote of TATA box-28 (A-->G) change, one as the homozygote of betaE26 (G-->A) mutation, ten as compound heterozygotes of TATA box- 28 (A-->G) mutation with other beta-globin mutations, two as compound heterozygotes of betaE26 (G-->A ) mutation with other beta globin mutations, and four as double heterozygotes for beta globin and alpha globin mutations including -SEA and -alpha(4.2).

CONCLUSIONSThe molecular defects of beta- thalassemia intermedia in Guangdong Province were highly heterogeneous and its spectrum was different from the reports from other provinces of China.

Child ; Child, Preschool ; Female ; Globins ; genetics ; Humans ; Infant ; Male ; Mutation ; Oligonucleotide Array Sequence Analysis ; TATA Box ; beta-Thalassemia ; genetics

OBJECTIVETo investigate the clinical characteristics and diagnosis of mucopolysaccharidosis VII.

METHODThe clinical and biochemical features of an infant with mucopolysaccharidosis VII confirmed by enzyme assay were analyzed.

RESULTThe 2 month-old male infant showed hydrops fetalis, mental retardation, coarse face, corneal clouding, hepatosplenomegaly, hernias, Alder-Reilly granules in the leucocytes and decreased platelet (32 × 10(9)/L). The biochemical markers showed urinary glycosaminoglycans (GAG) (532.8 mg/L, controls < 70.0 mg/L). The ratio of GAG/creatinine was 161.3 (controls: 26.2 ± 11.7). Serum chitotriosidase activity was 315.8 nmol/(ml·h) [control < 53 nmol/(ml·h)]. Beta-glucuronidase activity was deficient in isolated leukocytes.

CONCLUSIONSevere form of mucopolysaccharidosis VII exhibited characteristics of hydrops fetalis, hepatosplenomegaly, coarse face, thrombocytopenia and Alder-Reilly granules in the leucocytes. The measurements of GAG in urinary and beta glucuronidase in leucocytes are critical to diagnosis and deferential diagnosis.

Glucuronidase ; metabolism ; Glycosaminoglycans ; urine ; Humans ; Infant ; Leukocytes ; enzymology ; Male ; Mucopolysaccharidosis VII

OBJECTIVEThe new technology of genechip is exerting a significant impact on the identification of thalassemia, and allows to rapidly and efficiently detect a number of molecular disorders. The aim of the present study was to explore the application value of the diagnostic genechip in determining thalassemia.

METHODSThe subjects group consisted of 62 children with alpha thalassemia and 93 children with beta thalassemia (60 with thalassemia trait, 33 with thalassemia major) from Guangdong province were tested from July 2002 to July 2003; 115 were males and 40 were females, the age ranged from 1 day to 11 years. These children had mild, moderate or severe anemia. Laboratory examinations showed microcytosis and hypochromocytosis. DNA was extracted from ACD coagulated blood with Invisorb DNA extraction kit. After preparation, the alpha and beta globin gene organization and structure of sample was analyzed by genechip technology.

RESULTS(1) Heterozygotes, homozygotes and compound heterozygotes of the three commonest deletional alpha thalassemia (--(SEA), -alpha(3.7), -alpha(4.2)) and two non-deletional alpha thalassemia (HbCS, HbQS) were successfully detected. (2) Eight different mutations were identified in 126 chromosomes among 60 cases with beta thalassemia traits and 33 cases with beta thalassemia major, namely CD41-42, IVS-II-654, TATAbox-28, CD17, CD71-72 (+A), betaE(26) CD27-28 (+C) and CD71-72 (+T), with the frequencies of 33.5%, 23.9%, 15.0%, 15.0%, 4.8%, 2.4%, 2.4% and 1.5% respectively. (3) Eight cases (13.3%) in 60 thalassemia traits, two cases (6%) 33 cases with thalassemia major were detected to be combined with alpha thalassemia mutation.

CONCLUSION(1) The usage of genechip in identifying thalassemia mutations has the advantages of simplicity, economy and shorter time. This technique does not use radioisotope and could also detect alpha and beta thalassemia mutations simultaneously. (2) The occurrence of alpha and beta thalassemia dual heterozygotes is frequent in Guangdong province and the genechip technology is important in genetic counseling and prenatal diagnosis of thalassemia in this area.

Child ; Child, Preschool ; China ; Female ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Oligonucleotide Array Sequence Analysis ; alpha-Thalassemia ; diagnosis ; genetics ; beta-Thalassemia ; diagnosis ; genetics

Objective To investigate the epidemiological characteristics of obesity and how they related to chronic diseases among middle aged and elderly men in urban Shanghai.Methods A cross-sectional analysis was conducted using data from a baseline survey from an on-going cohort study of 61 500 men between 40-74 of age in urban Shanghai.Study subjects were recruited from 8 communities of an urban district in Shanghai during 2002 to 2006.General obesity was measured by body mass index (BMI≥28) and,central obesity by waist to hip ratio (WHR≥0.9).Unconditional logistic regression model was used to estimate the odds ratio and 95% confidence interval of chronic diseases associated with obesity after adjustment for potential confounding factors.Results The aged-adjusted prevalence rates of overweight,overall obesity and central obesity were 36.8%,7.7% and 49.7% respectively.In this population,66.7% subjects had ever been diagnosed with one or more kinds of chronic diseases,in which hypertension ranked first with an age-adjusted prevalence rate of 26.5%.After mutual adjustment for WHR and BMI,obesity (BMI≥28) appeared to be associated with increased prevalence rates of hypertension,coronary heart disease,gallstone,urinary tract calculus and stroke comparing to men having normal BMI (18.5≤BMI＜24) with ORs ranged from 1.16 to 3.13.However,to the lowest quartile,the ORs associated with the highest WHR were between 1.20 and 1.69 for these 5 diseases.All P values for trend tests were less than 0.05.WHR was positively associated with diabetes,with OR as 2.40 (95% CI:2.14-2.70) for the highest quartile comparing to the lowest quartile.BMI was unrelated to the diabetes prevalence.Prevalence of chronic obstructive pulmonary disease decreased with increasing BMI,but increased with WHR.The corresponding OR was 0.87 (95% CI:0.77-0.98)for the obese men compared to those with normal BMI while 1.26(95%CI:1.14-1.40) for the subjects with the highest WHR comparing to those with the lowest WHR.Conclusion The prevalence rates of hypertension,gallstone,urinary tract calculus,cardiovascular and cerebrovascular diseases were higher in obesity men.Central obesity seemed to be related to high prevalence of diabetes.

OBJECTIVETo evaluate the roles of enteric nervous system neurotransmitters, nitric oxide (NO), substance P (SP) and vasoactive intestinal polypeptide (VIP), and interstitial cells of Cajal (ICC) in the colon in slow transit constipation in rats.

METHODSThirty-two healthy Wistar rats were randomly assigned to control and constipated groups. In the constipated group, the rats were daily administered with diphenoxylate (8 mg/kg) to develop slow transit constipation, while the control rats were fed with water. The number and the weight of fecal granule and the body weight of rats were recorded every 5 days for 90 days. Transit functions of intestinal movement were examined by an activated charcoal suspension pushing test one week after stopping the administration of diphenoxylate. The levels of NO and SP in the colonic mucosa were measured by nitrate reductase methods and ELISA respectively. The distribution of VIP and ICC positive cells confirmed with symbolic c-kit+ cells in the colonic wall were observed by immunohistochemical methods.

RESULTSThe daily number of fecal granule in the constipated group was significantly less than that in the control group (P<0.01). The mean weight of each fecal granule in the constipated group was significantly higher than that in the control group (P<0.01). The discharge time of the first granule of black faeces in the constipated group (430.2+/- 132.1 min) was significantly longer than that in the control group (337.2+/- 74.7 min; P<0.05). There were no significant differences in NO and SP levels and the density of VIP positive cells in the distal colonic segment between the two groups. The number of c-kit+ cells in the distal colonic wall in the constipated group was significantly reduced compared with that in the control group (P<0.05).

CONCLUSIONSThe reduction of ICC number in the distal colon may be contributed to the pathogenesis of slow transit constipation in rats.

Animals ; Body Weight ; Coiled Bodies ; Colon ; cytology ; innervation ; Constipation ; etiology ; Male ; Neurotransmitter Agents ; physiology ; Nitric Oxide ; analysis ; physiology ; Proto-Oncogene Proteins c-kit ; analysis ; Rats ; Rats, Wistar ; Substance P ; analysis ; physiology ; Vasoactive Intestinal Peptide ; analysis ; physiology

OBJECTIVETo assess whether the polymorphisms of CYP17 MspA(1)I are associated with the susceptibility of endometrial cancer.

METHODSThe allelic discrimination of the CYP17A1 gene polymorphisms were assessed with the ABI PRISM 7900 Sequence Detection Systems using TaqMan genotyping assay. Unconditional logistic regression was applied to assess odds ratio and 95% CI and evaluate the association between different genotypes and endometrial cancer development.

RESULTSThe frequencies of wild-type, heterozygote and homozygote for the CYP17 MspA(1)I in control women in Shanghai were 17.8%, 49.3% and 32.9%, respectively. No significant difference was found in the distribution of various genotypes of CYP17 MspA(1)I between patients and controls. Pregnancy was associated with reduced risk of endometrial cancer in pre-menopausal women with A2 allele, OR = 0.66, 95% CI: 0.44 approximately 0.99. In post-menopausal women with A2 allele, more pregnancies ( > 2) and shorter time of menstruation ( < or = 32 yrs) were associated with reduced risk of endometrial cancer.

CONCLUSIONNo significant relationship was found between CYP17 MspA(1)I genotypes and endometrial cancer risk.

Adult ; Aged ; Alleles ; Case-Control Studies ; China ; Endometrial Neoplasms ; enzymology ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Menopause ; Middle Aged ; Odds Ratio ; Polymorphism, Genetic ; Steroid 17-alpha-Hydroxylase ; genetics

OBJECTIVETo assess the effect of tea consumption on the risk of endometrial cancer.

METHODSIn a population based case-control study conducted in urban Shanghai, face-to-face interviews were completed for 995 incidence cases aged 30 - 69 from January 1997 to December 2002 and 1087 controls that frequency-matched to cases on age. Unconditional logistic model was used for analysis.

RESULTSAn inverse association was observed in tea drinking and endometrial cancer risk. Compared to non-tea drinkers, regular tea drinkers had reduced risk of endometrial cancer (OR = 0.74; 95% CI: 0.54 - 1.01) in premenopausal women. Green tea had a protective effect on endometrial cancer among non-smoking or non-alcohol drinking women (OR = 0.77, P = 0.0199) and the ORs reduced with the increasing concentration of tea being served (P for trend = 0.0493). The multivariate ORs for drinking green tea < 7 times/week and >or= 7 times/week were 0.90 (95% CI: 0.53 - 1.54) and 0.76 (95% CI: 0.60 - 0.95) with the trend test of P = 0.0163.

CONCLUSIONTea drinking, with green tea in particurlar, seemed to have weak but inverse association with endometrial cancer risk, but this effect of protection might only limit to premenopausal women.

Adult ; Aged ; Case-Control Studies ; China ; epidemiology ; Endometrial Neoplasms ; epidemiology ; prevention & control ; Female ; Humans ; Logistic Models ; Middle Aged ; Risk Factors ; Surveys and Questionnaires ; Tea ; Urban Health

OBJECTIVETo study the suppressive effect of LRRC4 gene on human glioma U251 cells and further investigate its biological functions.

METHODSH&E, DNA and AgNORs stainings were performed on LRRC4-transfected U251 cells, mock-transfected U251 cells and non-transfected U251 cells, respectively. Quantitative analysis including cell morphometry, DNA content, DNA ploidy, silver stained argyrophilic nucleolar organizer regions (AgNORs) were investigated by image analysis. Flow cytometry was employed to determine the difference of cell cycle distribution and MTT staining was used to elucidate the activity of the LRRC4-transfected U251 cells.

RESULTSThe morphological cell parameters such as area, perimeter and diameter, DNA content, chromosomal aneupoloidy, mean area of AgNORs particles and mean nucleus area of the LRRC4-transfected U251 cells were remarkably decreased compared to those of the mock-transfected and non-transfected U251 cells (P < 0.05, P < 0.01). Meanwhile, significant accumulation of cells in G(0)/G(1) phase but decrease of cells in S and G(2)/M phase, was observed in transfected U251 cells compared to those of the mock-transfected and non-transfected U251 cells (P < 0.05, P < 0.01). MTT staining showed that proliferation activity of both the mock- and non-trasfected U251 cells was significantly higher than that of the U251 cells transfected with LRRC4 gene (P < 0.01).

CONCLUSIONLRRC4 gene might be involved in tumor suppression by restraining DNA synthesis and the nucleoli organizer regions-associated proteins, keeping the cell cycles in phase G(0)/G(1) and reducing proliferation activity of the glioma cells. Morphometry combined with other techniques such as flow cytometry and MTT staining can well elucidate the biological function of novel genes.

Brain Neoplasms ; genetics ; pathology ; Chromosomes, Human, Pair 7 ; Gene Expression Regulation, Neoplastic ; Genes, Tumor Suppressor ; physiology ; Glioblastoma ; genetics ; pathology ; Humans ; Nerve Tissue Proteins ; genetics ; physiology ; Transfection ; Tumor Cells, Cultured