Objective: To determine whether intrauterine infection with hepatitis B virus (HBV) occurs in early pregnancy and to characterize associated virulence factors. Methods: Villi tissues and blood samples of 45 HBV surface antigen (HBsAg)-positive pregnant women were collected during the first trimester and HBV DNA loads were quantified by quantitative reverse transcription polymerase chain reaction (qRT-PCR). The expression of GCM1, HBsAg and hepatitis B core antigen (HBcAg) in villi tissues were detected by immunohistochemical method. Results: Data from qRT-PCR showed that HBV DNA was detected in 14 of 45 villi tissues (positive rate of 31.11%), and 24 of 45 blood samples (positive rate of 53.33%), further statistical analysis showed that the positive rates of HBV DNA between blood samples and villi tissues were not significantly different (χ²=4.555, P=0.054). Among them, 12 samples were consistently positive between the villi and blood specimens, and HBsAg, HBeAg, HBeAb, HBV DNA from peripheral blood in these pregnant women were significantly higher than those of the other women (P value was 0.007, 0.004, 0.000, and 0.000 respectively). The multivariate logistic regression analysis showed that blood HBV DNA greater than 106 IU/ml was independently associated with HBV DNA positive in villi, and the HBsAg, HBeAg, villi tissues HBV DNA positive rates of these pregnant women were significantly higher than those of the other pregnant women (all P value were 0.000). Immunohistochemistry results showed that all 45 cases were positive for GCM1 expression in the cell nucleus. Nine cases also had HBsAg expression in the cytoplasm. Only one case was found to express HBV core antigen (HBcAg) in the nucleus. Conclusions HBV DNA and HBsAg can be detected from villi tissues harvested during the first trimester in HBsAg-positive pregnant women, and the results suggest an early occurrence of intrauterine infection of fetuses with high HBV levels.

ObjectiveTo assess the effectiveness of tele-medicine and self-management goal(SMG) setting technique used in the diabetes management in the community setting.Methods It is a control-group study.415 type 2 diabetic residents were recruited from the Shanghai Wuliqiao community based on existing medical records.The subjects were divided into two groups,the study group was cared by general practitioners (GPs) specialists cooperation through the tele-medicine mechanism,the other was a control group.For the study group,a cooperation pathway between community health care centers and general hospitals were established.Standardized training and guidelines were provided to community health workers,regarding the setting of management goals of blood glucose and blood pressure,treatment plan,patient education,and SMG techniques.Fasting blood glucose ( FBG ) and 2 h postprandial blood glucose (2hBG) in the study group were monitored,followed by community health workers visiting monthly with seminars for diabetes education.At the baseline and the 12tb month,FBG,2hBG,HbA1C,blood pressure,triglyceride,total cholesterol,body mass index,waist-hip ratio were determined in each group.A survey was conducted to evaluate the costs of diabetes treatments,the knowledge base related to their disease,lifestyle,and the awareness of the new care model.The rates of achieving the goal of blood glucose,blood pressure,and HbA1Ccontrol were calculated.Internet case discussion between GPs-Specialists and referral to certain specialists were implemented when some patients did not reach the control goal.ResultsBy the 12 month follow up,FBG,2hBG,HbAIc,blood pressure of the study group were lower than the baseline,and as well as the control group with statical significance (P＜0.05).There are other improvcments:diabetes knowledge (29.1％ vs 5.5％ ),healthy diet (9.6％ vs -10.4％ ),blood glucose monitoring (30.3％ vs 10.8％ ),support for diabetes care in community (35.7％ vs 9.4％ ),and the preference of the new model (63.8％ vs 17.9％ ) with statistical significauce (P＜0.01 ).As for the medical costs,the study group's monthly costs were consistently lower than the control's.( -3.39Yuan vs 32.26 Yuan,P＜0.05).ConclusionsThe new diabetes care model based on GPs-Specialists tele-medicine and SMG in community opens the door to the community based care model formulation in regard to the health quality and costs control.The deployment of more technologies and management techniques could be explored further to improve the outcomes of community based chronic disease care model.

Objective To understand patient pathway and clinical characteristics of chronic diseases in urban areas of Shanghai. Methods A total of 10 002 residents were enrolled and assigned to the chronic disease group (including hypertension, diabetes, coronary heart disease, myocardial infarction, and ischemic stroke) and the non-chronic disease group. Body mass index,fasting blood glucose, triglyceride,total cholesterol, high-density lipoprotein cholesterol and low-density lipoprotein cholesterol were tested.Difference of patient pathway and clinical characteristics of those chronic diseases was compared. Results Above chronic diseases were observed in 37.7% participants. About 2/3 diseases were confirmed and 80% patients were followed up in healthcare units not far away from home. Patients with coronary heart disease and myocardial infarction showed more outpatient visit to tertiary hospitals (P＜0. 05 ). However, patients with ischemic stroke had health check, rehabilitation and pharmacy done mainly in local healthcare centers (P＜0. 05 ). Diastolic blood pressure of patients visiting local doctors was significantly decreased (P＜0. 05). Conclusion Some differences in patient pathway were found in this study. Communication and cooperation between medical institutions should be intensified for effective chronic disease control.

To analyze and evaluate the knowledge of Chinese Guidelines of Diabetes Prevention and Treatment in Shanghai medical staff. 175 medical staff working in endocrinology or community health were enrolled and evaluated by a questionnaire of guidelines about the state of professional, training, and related knowledge. Only 16. 6% medical staffwere trained about the guidelines( 46. 67% from the general hospitals, 14. 75% from secod-level hospital and 7. 14% persons from the community hospitals, P＜0. 01 ). The total correct answer rate of the guidelines was 37. 36%. The correct rate of community hospitals was lower than others( P＜0. 05 ). The rate of doctors' was higher than nurses'( P＜0. 05 ). There were difference between doctors and nurses with the key point of diabetes care knowledge in different level hospitals. The effective method of clinical training in diabetes care should be explored. We still have to work hard to promote the effect of diabetes control and prevention. Effective training about the guidelines should be enhanced. The cooperation between general hospitals and community health institutions in diabetes prevention and treatment should be enhanced.

Objective To report a familial dentinogenesis imperfecta type Ⅱ (DGI type Ⅱ) with a novel splicing mutation in DSPP (dentin sialophosphoprotein) gene.Methods Based on the result of linkage analysis performed previously to map the candidate gene DSPP in the family, the promoter,the first four exons and exon-intron boundaries of DSPP were directly sequenced for the members of the DGI type Ⅱ family. Denaturing high performance liquid chromatography (DHPLC) analysis was performed to confirm the results of sequencing.Results A novel splicing mutation of 23 bp deletion in intron 2 of DSPP gene was identified by DNA sequence analysis. The mutation changed acceptor site sequence from CAG to AAG, and might result in functional abolition of possible branch point site in intron 2. DHPLC result was consistent with that of sequencing. The mutation may be identified in all affected individuals, but not found in normal members of the family and 50 controls.Conclusion These results suggest the deleted mutation of DSPP gene causes DGI type Ⅱ in the family. The mutation has not been reported before.

OBJECTIVETo report a true hermaphroditism due to a teragametic chimerism and to discuss the pathogenesis of tetragametic chimerism.

METHODSChromosomal analysis and fluorescence in situ hybridization(FISH) were carried out on the lymphocytes from the blood and on the fibroblasts from the cultured skin and on fibroblasts from two different kinds of gonadal tissues of the patient with ambiguous genitalia respectively. Blood groups, human leukocyte antigen (HLA) haplotyping and 77 short tandem repeat (STR) microsatellite markers were tested. The two kinds of tissues in the gonad were detected by histopathological examination. Blood groups, HLA haplotying and 77 STR microsatellite markers parents of the patient's were also analyzed.

RESULTSEither 46,XX or 46,XY karyotype was found in the lymphocytes of the blood and in the fibroblasts of the cultured skin and of the two different kinds of gonadal tissues. Two X chromosome-specific signals or one X and one Y signal were detected in each interphase nucleus by FISH from the lymphocytes of the blood and the fibroblasts of three different tissue cultures. The karyotype of the 46,XY cell line predominated in all cultures except the cultured-fibroblasts from yellow gonadal tissues. STR marker analysis, ABO grouping and HLA study from the patient were identified a single haplotype in the patient from the mother and two different haplotypes from the father. Two kinds of tissues in the gonad were observed by histopathological examination. The yellow tissue was ovary and the white one was testis.

CONCLUSIONSHistopathological examination and chromosomal analysis combined with FISH are very useful methods for the diagnosis of true hermaphroditism. Blood typing, HLA and short tandem repeat microsatellite markers afford strong evidence for confirming tetragametic chimerism. The mechanism of tetragametic chimerism in true hermaphroditism can be explained by a parthenogenetic division of a haploid nucleu into two identical gametes, followed by fertilization with both X and Y spermatozoa and then developed into an organism.

ABO Blood-Group System ; Chimera ; Disorders of Sex Development ; blood ; genetics ; pathology ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Sex Chromosomes

OBJECTIVETo observe the segregation of sex chromosomes in the spermatozoa of a 46, XY/47, XXY patient with oligozoospermia.

METHODSThe number of X and Y chromosomes of the ejaculated spermatozoa from the patient with mosaic 46, XY/47, XXY was analysed by X/Y dual fluorescence in-situ hybridization (FISH).

RESULTSOf the 100 spermatozoa analysed, 97 showed either one X chromosome-specific green signal or one Y-chromosome-specific red Y signal in each spermatozoon and only 3 showed no signal. The frequencies of X- and Y-bearing spermatozoa were 49% and 48% respectively. The ratio of X- to Y-bearing spermatozoa was about 1:1 as expected. There was no statistical difference between the chromosome XX and XY frequencies in each spermatozoon from the patient in comparison with those estimated in the control.

CONCLUSIONThe spermatozoa of 46, XX/47, XXY mosaic patients have a normal gonosomal complement, which allows infertility treatment to be carried out by ICSI.

Adult ; Chromosomes, Human, X ; Chromosomes, Human, Y ; Humans ; In Situ Hybridization, Fluorescence ; Klinefelter Syndrome ; genetics ; therapy ; Male ; Oligospermia ; genetics ; therapy ; Sperm Injections, Intracytoplasmic

OBJECTIVETo detect the anti-FSH antibody using ELISA, and further probe into the role of anti-FSH in infertile patients.

METHODSThe anti-FSH antibody was detected using ELISA in the serum of patients with spermatogenesis dysfunction, of infertile patients with normal sperm density and motility, and of normal fertile males.

RESULTSThe positive rate of anti-FSH antibody in the patients with oligospermia and/or asthenospermia [22.4% (22/98)] was significantly higher than that in the normal fertile [4% (2/50)] (P < 0.05) and that in the infertile patients with normal sperm density and motility [6.7% (2/30)] (P < 0.05). The positive rate of anti-FSH antibody in the patients with oligospermia and/or asthenospermia was lower than that in the patients with azoospermia [54.5% (12/22)] (P < 0.05). There was no significant difference in the positive rate between the normal control and the sterile males with normal sperm density and motility.

CONCLUSIONThe anti-FSH antibody may be an important factor to cause spermatogenesis dysfunction by combining FSH to form immune compound and depress the activation of FSH.

Antibodies ; blood ; Follicle Stimulating Hormone ; immunology ; Humans ; Infertility, Male ; etiology ; immunology ; Male ; Spermatogenesis

Gondadal differentiation is genetically determined in humans. Sex is determined when the bipotential embryologic tissues differentiate into testes or ovary. SRY, a gene located on the Y chromosome, triggers a complex genetic cascade leading to testicular differentiation. However, only a minority of 46, XY sex reversal patients can be explained by SRY mutations, suggesting that other genes influencing sex determination are to be discovered. Recent studies show that testis differentiation requires insulin receptor family function in mice. SRY normally requires two distinct NLS-dependent nuclear import pathways to reach sufficient levels in the nucleus for gonadal differentiation.
Active Transport, Cell Nucleus ; Female ; Gene Expression Regulation ; Genes, sry ; physiology ; High Mobility Group Proteins ; genetics ; physiology ; Humans ; Male ; SOX9 Transcription Factor ; Sex Differentiation ; Transcription Factors ; genetics ; physiology

Objective:To investigate a large Chinese family in which 9 patients over 4 generations were diagnosed with a form of autosomal dominant spondyloepimphyseal dysplasia(SEMD).Mothods:X-Ray radiograph of proand at 18-month showed absence of secondary ossification centra of femoral heads.His father at 24-year presented severe spondyloepiphyseal changes that principally involved the vertebral bodies,the femoral necks and femoral heads and characterized by generalized platyspondyly with thoracolumbar scoliosis,irregular femoral necks,absent ossification of femoral heads,flat acetabular roofs and coxa vara.The other patients had similar clinical and radiological features.Haplotyping was performed with leukocyte DNA for 5 micosatellite repeat markers from chromosome 12 and the result showed COL2A1 gene as a candidate gene.A total of 54 exons and promoter of COL2A1 gene were amplified and sequenced from all patients and available normal relatives.In addition,exon 23 of COL2A1 gene was amplified and sequenced from 10 controls simultaneously.Results:All patients were identified a 1510(G→A) transition in exon 23 of COL2A1 gene that caused a change from a COL2A1 coding region in available glycine to serine at amino acid position 504.No mutation was found in the normal relatives and 10 controls. Conclusion:The mutation of COL2A1 gene is responsible for this form of SEDC of the family.This is the first familial report of SEDC relating to 1510G→A mutation of COL2A1 gene.The detailed clinical radiogram data will be useful for extending the phenotypic spectrum of type Ⅱcollagenopathies.