The etiology and pathogenesis of intrahepatic cholestasis are complex,and those are not still very clear in current.Studies suggest that genetic factors play an important role in the pathogenesis of the disease.Some familial cholestasis have been confirmed by gene mutation causing.Bile secretion process regulated by a number of bile relation gene at the molecular level.Farnesoid X receptor (FXR) gene is related to intrahepatic bile secretion process.Bile secretion is indirect control by FXR which formats a complex network,becoming more attention to researcher in recent years.

Objective To explore the mutation of androgen receptor(AR)gene in a patient with 46,XY disorder of sex development(DSD)and to improve the diagnostic level and understanding of androgen insensitivity syndrome(AIS).Methods The clinical data of the child was analyzed,including physical examination,relevant laboratory examination,karyotype,pelvic B ultrasound,pelvic magnetic resonance imaging(MRI)and AR gene mutation.The peripheral blood of the child and his parents were drawn,and peripheral blood DNA was extracted.The polymerase chain reaction(PCR)-DNA sequencing method was used to amplify all exons of the AR gene in the child and his parents.Then,they were directly sequenced.Results A 7-years and 2-months old child who suffered from DSD,revealed physical examination that the child had normal female external genitalia,as the clitoris length was 2.0 cm×0.8 cm,with visible vaginal opening,and there were masses at bilateral inguinal region,with a size of 1.5 cm×0.8 cm.The results of human chorionic gonadotropin(HCG)stimulation test:testosterone was 0 nmol/L,androstenedione was 1.78 nmol/L,dihydrotestosterone was 0.07 nmol/L before HCG was injected;but testosterone was 4.69 nmol/L,androstenedione was 2.10 nmol/L,dihydrotestosterone was 0.33 nmol/L after HCG was injection.Sex chromosome analysis reported 46,XY karyotype.Pelvic B ultrasound revealed the absence of a uterus and ovaries and the presence of bilateral testes like gonad at each side of internal inguinal ring,with a size of 1.4 cm×1.0 cm×0.8 cm in the left,1.5 cm×0.7 cm×0.8 cm in the right;but the kidney,ureter,urinary bladder,adrenal gland and retroperitoneal for B ultrasound revealed no abnormality.Pelvic MRI(non-enhanced and enhanced)showed the presence of a blind ending vagina between rectum and urinary bladder(40 mm in depth)and the absence of uterus and ovarian tissue.DNA sequencing found one c.1685T>C heterozygous mutation(p.Ile562Thr)on exon 2 of AR gene in the child.But retrieving and summarzing documents of the domestic and foreign information databases and websites,the locus mutation of AR gene had never been reported.The structure prediction of the mutated protein(Polyohen2 and SIFT software)was significantly changed.By verifying the locus site of the parents of this child,it was found that his mother carried the same mutation,but his father was found to be normal.Conclusions A c.1685 T>C mutation(p.Ile562Thr)on exon 2 of AR gene is a novel mutation.Combined with the patient's clinical manifestations and computer prediction results,it may suggest that the novel mutation of AR gene can lead to the occurrence of AIS.

Objective To screen thyroid function among planned pregnant women in Chongqing, to guide prenatal and postnatal care. Methods Proportional multi-stage stratified cluster random sampling method was adopted to enroll 11 953 planned pregnant women for questionnaire, physical examination, and serum samples collection. Results The median TSH was 2. 04 mIU/ L, P25 = 1. 36 mIU/ L,P75 = 2. 99 mIU/ L. TSH levels being normal, higher, and lower than the reference were 91. 47% , 6. 20% , and 2. 33% , respectively. In Northeast Chongqing, the proportions of median TSH level and TSH level above the upper limit were higher than those in other regions(P<0. 05). With improved education, proportions of TSH above the upper limit and below the lower limit declined(P<0. 05). With the increase in body mass index, the proportion of those whose TSH was above the upper limit showed elevated trend(P<0. 05). In women with history of adverse pregnancy outcomes, their median TSH was higher than that in the control group, and those, whose TSH level exceeded the upper limit, yield higher results than those in the control group(P<0. 05). In women with higher fasting blood glucose The median TSH level was lower than that in normal blood glucose group( P<0. 05), with the fasting plasma glucose concentration and TSH negatively correlated(P<0. 05). Conclusion The abnormal rate of TSH level in planned pregnant women was 8. 53% in Chongqing. The abnormal rate varies by different regions, education levels, body mass indexes, and blood glucose levels. Previous history of adverse pregnancy outcomes was related to elevated TSH levels. It is necessary to take pre-pregnancy thyroid function screening investigation.

Objective To discuss effect on prevention of postpartum hemorrhage of caesarean section by us- ing calcium gluconate combined with oxytocin and misoprostol.Methods 385 cases of caesarean section were select- ed and randomized into O(Oxytocin) group and OM(Oxytocin+ Misoprostol) group and COM (Calcium gluconate+ Oxytocin+Misoprostol)group.Results The mean operative blood loss in O group and OM group and COM group were (300?50.24)ml,(220?30.83) ml,(150?45.52) ml.The amount of the mean operative blood loss of COM group was significantly lower than those of O group and OM group(P＜0.05).The amount of bleeding of 2 hours after delivery in O group and OM group and COM group were (400?45.52)ml,(260?60.43)mi and(210?50.54) ml.The amount of bleeding of COM group was significantly lower than those of O group and OM group (P＜0.05).Conclusion The prevention by used calcium gluconate combined with oxytocin and misoprostol is efficient in reducing the amount of postpartum hemorrhage of caesarean section.The operation of medicine is easy and safe and economic.

Ribavirin is a broad-spectrum antiviral agent and glycyrrhizin has activities of anti-inflammation, immunoregulation and anti-viral infections. To enhance antiviral efficacy and weaken side-effects of ribavirin, antiviral effects of the combination of glycyrrhizin and ribavirin were studied in the present study. Firstly, a mouse model of viral pneumonia was established by inoculation of influenza H1N1 virus. Protective effects of glycyrrhizin and ribavirin used alone or in combination against H1N1 virus infection in mice were evaluated based on the survival rate, lung index and virus titer in lungs of mice. Results showed that the combination of glycyrrhizin and ribavirin significantly inhibited the lung consolidation with a 36% inhibition ratio on the lung swell of infected mice. The combination of the two drugs exhibited synergetic effects on survival of infected mice. The combination of 50 mg · kg(-1) · d(-1) glycyrrhizin and 40 mg · kg(-1) · d(-1) ribavirin resulted a 100% protection for infected mice with a synergetic value of 36, which was significantly higher than the control group and each drug alone. This combination also resulted a significant drop of lung virus titer (P < 0.01), as well as inhibition on the production of proinflammatory cytokines IL-6 (P < 0.01), TNF-α (P < 0.01) and IL-1β (P < 0.05) induced by virus infection compared to the control. The treatment of ribavirin plus glycyrrhizin was more effective in influenza A infection in mice than either compound used alone, which suggested a potential clinical value of the combination of the two agents.
Animals ; Antiviral Agents ; pharmacology ; Disease Models, Animal ; Drug Synergism ; Drug Therapy, Combination ; Glycyrrhizic Acid ; pharmacology ; Inflammation ; immunology ; Influenza A Virus, H1N1 Subtype ; drug effects ; Interleukin-1beta ; immunology ; Interleukin-6 ; immunology ; Lung ; immunology ; virology ; Mice ; Orthomyxoviridae Infections ; drug therapy ; Pneumonia, Viral ; drug therapy ; Ribavirin ; pharmacology ; Tumor Necrosis Factor-alpha ; immunology

OBJECTIVETo explore the prevalence of syphilis and risk factors on pregnant women in Fujian province.

METHODSFrom July 1st, 2004 to June 30th, 2006, epidemiologic methods as questionnaires to fill in and rapid plasma reagent testing (RPR) were performed. Pregnant women with positive RPR test and then were confirmed by treponema pallidum test (TP). Intervention was provided to the pregnant women who were followed up to the postpartum periods. Results were compared during the peri-neonatal stage between syphilis-infected and non-infected women. Factors which were relative to syphilis infection were analyzed by simple and then further logistic regression analysis.

RESULTSThere were 38 418 pregnant women under study, of whom 772 were confirmed including 60 who were still pregnant. The prevalence of syphilis during pregnancy was 1.85% (712/38 418), with mostly underlying syphilis which played an important role during the neonatal stage. Main risk factors to have been found as: women's occupation, cultural background, place of living, husband's occupation, family income, having sexually transmitted disease(STD) infection. The prognosis of peri-neonatal stage was worse if the mother was having blood RPR test positive. Mortality of peri-neonatal, preterm birth rate and low-birth weight rate were found also higher among mothers when RPR was positive (P < 0.01).

CONCLUSIONThe prevalence of syphilis in Fujian province was going up yearly. 8 factors including women's occupation, cultural background, place of living, received poor health education, having multiple sexual partners, husband's occupation, family income and having STD were main risk factors in the province, the mother's status of syphilis infection would strongly relate to the peri-neonatal stage of pregnancy.

Adult ; China ; epidemiology ; Female ; Humans ; Logistic Models ; Maternal Mortality ; Pregnancy ; Pregnancy Complications, Infectious ; epidemiology ; Prevalence ; Risk Factors ; Surveys and Questionnaires ; Syphilis ; epidemiology ; Syphilis Serodiagnosis ; Young Adult

Objective To explore the maternal-fetal transmission patterns and interventional methods of syphilis during pregnancy.Methods A total of 847 cases of syphilis in pregnancy confirmed by rapid plasma reagin test(RPR)and treponema pallidum hemoagglutination test(TPHA)were treated with procaine benzylpenieillin intramuscular injection,and with erythrocin oral medication if hypersensitive to benzylpenicillin.Eight hundred forty seven cases of syphilis during pregnancy were followed up for pregnancy outcomes.And their newborn babies were tested using the RPR.The newborns with positive results were given intervention and followed up until 24 months after birth.Results(1)A total of 733 cases among the total 847 have given birth to living-babies,in which 626 cases were tested using RPR,and the positive rate was 55.1%(345/626).(2)The RPR positive rate,neonatal mortality,preterm birth rate and low birth rate in the newborn of mothers with an RPR titer higher than or at 1:8 were higher than those of mothers with an RPR titer lower than 1:8(P

OBJECTIVEThe expression of C/EBPalpha protein and mRNA during automatically activation process in primary cultures of HSCs were observed in order to explore its possible association with the proliferation and activation of HSCs.

METHODSImmunocytochemistry, Western blot and RT-PCR were used to evaluated the expression of C/EBPalpha protein and mRNA; as well as the expression of alpha-SMA, Desmin, MMP2, type I procollagen (alpha1). The eukaryotic vector harboring the full length cDNA of C/EBPalpha was transfected into activated HSC, then immunocytochemistry was applied to confirm the transfection and evaluate the effect of transfection on the proliferation of HSC by calculating the PCNA-positive cells. The morphological changes of HSC were observed by use of phase-contrast microscope.

RESULTSConstitutive expression of mRNA and protein of C/EBPalpha were detected in primarily cultured HSCs, and the protein was seen in both nuclei and cytoplasm with the latter being dominant. Their expression levels reached highest at day 2 of the culture, then decreased gradually when continually cultured to the day 4, 7, 10, on the other hand, the expression of alpha-SMA, MMP2 and ColI(alpha1) increased steadily. Transient transfection was verified by the fact that much more and stronger C/EBPalpha stain was observed in transfected HSCs than in void-vector transfected cells. In C/EBPalpha gene transfected HSCs, the number of PCNA-positive cells dramatically decreased compared with the void-vector transfected cells 24h after transfection. In addition, the C/EBPalpha gene transfected HSCs died 36 h after transfection, a few surviving cells became longer and thinner in morphology, however the void-vector transfected cells almost all remained alive.

CONCLUSIONSC/EBPalpha was likely involved in the HSCs activation, and over-expressed C/EBPalpha by transfection had inhibitory influence on the proliferation of cultured rat HSCs.

Animals ; CCAAT-Enhancer-Binding Protein-alpha ; genetics ; Cells, Cultured ; Collagen Type I ; genetics ; Liver ; cytology ; metabolism ; Male ; Matrix Metalloproteinase 2 ; genetics ; RNA, Messenger ; analysis ; Rats ; Rats, Sprague-Dawley ; Transfection

OBJECTIVETo study the prevalence and principal rules of women with syphilis during pregnancy and to develop relative methods to prevent maternal-fetal transmission.

METHODSA nested case control study on epidemiologic research was used based on review and preview methods on prevention and cure. Targeting pregnant women with syphilis diagnosed during premarital or pregnancy stages and were identified through rapid plasma reagin test (RPR) but confirmed by treponema pallidum test (TP),a total number of 339 women receiving treatment, intervention and being followed throughout the pregnant and neonatal periods.

RESULTSThe prevalence of syphilis in pregnancy was 2.33%, and the positive rate in neonatal cord blood was closely associated with the opportunity of getting maternal treatment. The lowest RPR positive rate was among these women who got pregnant after receiving the treatment. The RPR positive rate of neonatal cord blood was positively relative to the mother's RPR titer. The higher was the mother's blood RPR titer, the worse the prenatal prognosis would turn to.

CONCLUSIONMother's blood RPR titer and the opportunity of getting treatment were strongly associated with the positive rate in neonatal cord blood. Pregnancy after receiving the treatment was a powerful measure to prevent the maternal-fetal transmission of syphilis.

Case-Control Studies ; Female ; Fetal Blood ; Humans ; Infectious Disease Transmission, Vertical ; prevention & control ; Maternal-Fetal Exchange ; Pregnancy ; Pregnancy Complications, Infectious ; drug therapy ; Syphilis ; drug therapy ; Syphilis, Congenital ; prevention & control

Objective The goal of this report was to evaluate the applicability of the da Vinci S surgical system in thoracic surgery.Methods The da Vinci S surgical system consists of a console, a patient cart, and a vision system.The patient cart loading with 3 robot arms and 1 central endoscope arm connects the console which commands the movements of the arm tips.The robot arm tips are introduced via small chest wall ports and attached to the arms of the robot.The surgeon, sitting at the console, manipulates highly sensitive sensors that transfer the surgeon's movements to the arm tips.The so called EndoWrist'technology offers up , down, left, right, and twist, seven degrees of movements, thus exceeding the capacity of a surgeon's hand in open surgery.17 intrathoracic lesion cases, including 12 Myasthenia Gravis, 1 diaphragm hernia, 2 esophageal cancer, 1 pulmonary cancer , 1 pneumothorax, were evaluated for clinical application of the da Vinci S surgical system.Results Out of 17 surgical procedures, 14 procedures were done using the robot from beginning to the end, including 12 thymectomies, 1 diaphragm hernia repair, 1 pulmonary bleb dissection.Only gastric mobilizations, the abdominal part procedures were done using the da Vinci S system, and the thoracic part procedures were done through small incision thoracotomy in 2 cases with esophageal cancer.One resection of left upper lobectomy had to be converted due to surgical problem.The postoperative courses were uneventful.Conclusion The da Vinci operating robot can do nearly all kinds of thoracic operations.Advanced general thoracic procedures can be performed safely and effectively with the da Vinci S robot allowing precise dissection.This benefit becomes evident most elegantly in thymectomies.The robot operation procedures can be done by the doctors with open and assisted thoracopic surgery experiences and other personnels getting trained in a short period of time, but case selection and preparing emergency thoracotomy at any time is needed to ensure the patient safety.