Analysis of SLC25A13 gene mutations and prenatal diagnosis for 20 families affected with citrin deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect mutations of SLC25A13 gene in 20 families affected with citrin deficiency and provide prenatal diagnosis for them.</p><p><b>METHODS</b>The 20 probands and their parents were subjected to high-frequency mutation screening combined with Sanger sequencing. After confirming the genotype of each pedigree, genetic counseling and prenatal diagnosis were performed for their subsequent pregnancies.</p><p><b>RESULTS</b>Biallelic pathogenic mutations of the SLC25A13 gene were identified in all probands. These included three deletions (c.851del4, c.1092_1095delT, and c.495delA), two splice-site mutations (IVS6+5G to A and IVS11+1G to A), two nonsense mutations (c.775C to T (p.Q259X) and c.72T to A (p.Y24X)), one duplication mutation (c.1638_1660dup), one insertion (IVSl6ins3kb), and one missense mutation (c.1775A to C (p.Q592P)). Among 24 fetuses undergoing prenatal diagnosis, 8 had normal genotypes, 11 were mutation carriers, while 5 harbored biallelic mutations. Those with wild type alleles or heterozygous SLC25A13 mutations were delivered. Two fetuses harboring homozygous c.851del4 mutations were also delivered. Three fetuses harboring biallelic mutations were terminated.</p><p><b>CONCLUSION</b>Analysis of SLC25A13 gene mutations in families affected by citrin deficiency can provide evidence for molecular diagnosis and facilitate genetic counseling and prenatal diagnosis for the subsequent pregnancy, which can effectively reduce the risk of birth of further affected children.</p>

The establishment of chronic salpingitis model of New Zealand rabbits caused by Escherichia coli / 中国比较医学杂志

Objective To investigate the possibility of utilizing the mixed bacteria liquid and the Escherichia coli ( E.coli) liquid to establish the chronic salpingitis model of New Zealand rabbits, respectively.Methods Taken as the study object, the un-pregnant New Zealand rabbits (4~5 years old) were randomly divided into three groups: the normal group, the mixed bacteria experimental group and the E.coli experimental group.The trans-vaginal intrauterine intubation operation was performed for the injection of the mixed bacteria liquid and the E.coli liquid.Visual observation was to evaluate the gross pathological changes of the salpingitis and the pelvic cavity.HE staining and the light microscope were used to observe the micro-pathological changes of salpingitis.Results On the 15th day after modeling, increased pelvic effusion, dense peritoneal adhesion, interstitial hyperplasia and infiltration of lymphocytes were observed in both experimental groups. Conclusion Through the trans-vaginal intrauterine intubation operation, the chronic salpingitis model of New Zealand rabbits could be successfully established either by using the mixed bacteria liquid or by using the E.coli liquid.

Impact of maternal hepatitis B surface antigen carrier status on preterm delivery in southern China / 南方医科大学学报

<p><b>OBJECTIVE</b>To explore the impact of maternal hepatitis B surface antigen (HBsAg) carrier status on the occurrence of preterm birth.</p><p><b>METHODS</b>We analyzed pregnancy-related complications, outcomes and fetal growth index in 188 HBsAg positive singleton pregnant women during the period of May 2009 to July 2011, with 265 HBsAg-negative women with singleton pregnancies in the same period serving as controls.</p><p><b>RESULTS</b>The HBsAg-positive pregnant women showed a significantly higher incidence of placenta praevia than the control group (2.66% vs 0%, P=0.03), and the incidence of preterm delivery (<37 weeks) was also significantly higher in HBsAg-positive group (12.23% vs 6.04%, P=0.02). The incidences of gestational hypertension, preeclampsia, gestational diabetes mellitus, abnormal glucose tolerance, premature rupture of membranes, cesarean delivery, and postpartum hemorrhage showed no significant differences between the two groups (P>0.05), nor did the fetal birth weight, height, head circumference or Apgar scores at 1, 5, and 10 min (P>0.05). Logistic regression identified HBsAg positivity, abnormal ALT, placenta praevia, and severe preeclampsia as the risk factors for preterm delivery.</p><p><b>CONCLUSION</b>HBsAg carrier status can increase the risk of preterm delivery in pregnancy, but it does not seem to affect the fetal growth.</p>

Transfection of siRNA into rabbit cervical cells in transformation zone by adopting solid phase in vivo inhibits HPV-DNA replication in SCID mouse with cervical carcinoma / 中国病理生理杂志

AIM: To investigate the possibility of transfecting siRNA into rabbit cervical cells in transformation zone by the method of solid phase in vivo and to verify the effectivity of siRNA transfection by modifying the permeability of the cervical epithelium. METHODS: A sense strand small-interference RNA (siRNA) for human papillomavirus type 16 (21 bp) was designed and labeled with Cy3. siRNA-Lipo2000-carbomer gum was prepared. Twelve rabbits were included in the study and divided into experimental group and control group. In order to modify the permeability of cervical epithelium, hypertonic saline solution at concentration of 200 mmol/L was used to infuse the cervix in the experimental rabbits for 10 min, and normal saline was used for the control animals. The siRNA-Lipo2000-carbomer gum was applied to the surface of the rabbit cervix. Twenty-four hours later, the rabbits were sacrificed, and the cervix was isolated, cut into 2 parts, one part was for rapid frozen sectioning and the efficiency of transfection was observed under fluorescence microscope, another part was prepared by paraffin embedding and sectioning, and the form of cervical histiocytes was observed. Twelve SCID mice with SiHa cell cervical tumor, divided into experimental group and control group, were also used in the study. The mice in experimental group were treated with siRNA-Lipo2000-carbomer gum for 7 d. The control mice were treated with Lipo2000-carbomer gum only. Five days later, the mice were sacrificed and the tumor was collected, and the HPV16-DNA was measured by PCR. RESULTS: (1) Red fluorescence (Cy3) in cervical epithelium was observed in all rabbits. However, no different effect of siRNA transfection was found between the ways of modifying the cervical epithelium permeability. (2) No abnormal change such as flare, swelling and ulcer at all cervical tissue was observed, the cervical cell form was normal. (3) The titer of HPV16-DNA was decreased significantly after siRNA transfection (P<0.05). CONCLUSION: Transfection of siRNA into rabbit cervical epithelium in vivo is successful by using the method of solid phase and inhibits the processes of HPV-DNA, indicating that using RNAi is a practical way to treat HPV infection in human cercix and to decrease the incidence of cercical carcinoma.

The application of case-based teaching in medical curriculum / 中华医学教育探索杂志

The application of case-based teaching in medical curriculum can enhance discussion, motivate students learning interest,enhance their abilities of clinical practice and clinical thinking.To highlight the key points of course,the application of problem-based learning(PBL) is helpful.The combination of PBL and case-based teaching will reduce redundant content and improve the quality of clinical teaching.

The Mechanism of Hyperbaric Oxygen on Treatmert of the Late-onset Fetal Growth Restriction / 中华围产医学杂志

ObjectiveTo study the mechanism of hyperbaric oxygen (HBO) on treatment of the late-onset fetal growth restriction (FGR). MethodsSixty-one pregnant women, who were first diagnosed as FGR after 32 weeks, were voluntarily devided into group-A (Routine management, n=28) an d group-B (HBO combined with routine management, n=33). Thirty cases of normal pregnant women were served as control group, called group-C (n=30).Results(1)Before treatment, the values of umbilical artery systolic/diastolic Ratio (S/D), pulse index (PI), resistant index (RI) and the blood viscosity at the low shear rate (LBV) of both group-A and group-B were significantly higher than those of group-C, P

The Influence of Antepartum Multiple and Single Course Glucocorticoid Treatment on Preterm Birth Infants / 中华围产医学杂志

Objective To assess the safety and effectiveness of prenatal multiple and single course glucocorticoids treatment on preterm birth infants. Method Seven researches on the treatment of preterm birth infants with glucocorticids were meta analyzed. Results Multiple courses of glucocorticoids treatment before labor may lower the incidence of patent ductus arteriosus (PDA) of preterm babies (OR=0.51,95% CI 0.49~0.54),and so did the respiratory distress syndrome (RDS), (OR=0.72,95% CI 0.49~1.07).But it may increase the septicemia of preterm infants (OR=1.62, 95%CI 1.07~2.44),and could not decrease the morbidity and mortality of intracranial hemorrhage (ICH)(OR=0.65, 95% CI 0.37~1.15)? necrosis enterocolonitis (NEC)(OR=1.30, 95% CI 0.79~2.12)and chronic lung disease (CLD)(OR=0.94,95%IC 0.59~1.49)? It cound not decrease the use of pulmonary surfactant after the birth of preterm infants. (OR=0.86,95% CI 0.48~1.55). Conclusions It suggests that multiple courses treatment with glucocorticoids is not safer and more effective than single course before labor.