Prenatal diagnosis of two cases of paternal uniparental disomy of chromosome 6 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To report on prenatal diagnosis and follow up of two patients with paternal uniparental disomy of chromosome 6 (pUPD6).</p><p><b>METHODS</b>Fetal cells were subjected to in situ culturing and G-banded chromosomal analysis. DNA samples of the fetuses and their parents were also analyzed with single nucleotide polymorphism microarray (SNP array).</p><p><b>RESULTS</b>Both fetuses had a normal male karyotype. SNP array analysis showed both have carried pUPD6.</p><p><b>CONCLUSION</b>pUPD6 can lead to transient neonatal diabetes mellitus type 1. Homozygous status of recessive mutations, disorder of gene imprinting, and its influence on placental function are the main factors to be considered during prenatal diagnosis and genetic counseling for pUPD6.</p>

Clinical analysis of chronic active epstein-barr virus infection in children / 中国综合临床

Objective To study the clinical characteristics of chronic active Epstein-Barr virus (EBV) infection (CAEBV) in children and to provide a basis for the diagnosis and treatment of CAEBV.Methods Clinical data,laboratory serology,pathological examination,treatment and follow-up results of 10 cases with CAEBV infection who were treated in Xijing Hospital of the Fourth Military Medical University from January 2008 to January 2016 were analyzed retrospectively.Results CAEBV major manifestations were continuous or intermittent fever,hepatomegaly,splenomegaly and lymphadenopathy,and others,including general fatigue,cough,hematemesis,diarrhea,skin rash,jaundice,sore throat,muscle joint pain,and so on.And with liver dysfunction,hematologic abnormality,and so on.All patients in anti-EB virus capsid antigen IgG (EBVCA-IgG)antibodies and EBEA-IgG antibodies had positive,while all patients in EBVCA-IgM antibodies had negative.The median load of EBV-DNA detected by real-time polymerase chain reaction(PCR) in the peripheral blood was 7.15× 105 copies/ml.Six of 10 cases CAEBV patients presented a poor clinical course,1 case died from intracranial hemorrhage,2 cases from respiratory failure,1 case from gastrointestinal bleeding,1 case from liver failure,1 case from severe multiple pathogens infection,rest 3 cases showed an improvement and 1 cases had a recurrence.Conclusion CAEBV infection has varieties of clinical features,with poor prognosis and high mortality.If the patients had unexplained fever,hepatomegaly,splenomegaly and lymphadenectasis,we should be timely detect virology and histopathological to diagnosis as early as possible.

Clinical outcomes of 241 cases with fetal ventriculomegaly / 中华围产医学杂志

Objective To evaluate the pregnancy outcomes and prognosis of fetuses with different levels of ventriculomegaly.Methods Fetuses with ventriculomegaly subjected to the multidisciplinary consultation in the Obstetrics and Gynecology Hospital of Fudan University between January 2004 and December 2013 were included in this study.The fetuses were divided into three groups according to the width of the lateral ventricles on ultrasound examination as follows:mild ventriculomegaly (Mild Group,≥ 10 -＜12 mm,151 cases),moderate ventriculomegaly (Moderate Group,≥ 12-＜15 mm,56 cases) and severe ventriculomegaly (Severe Group,≥ 15 mm,34 cases).All cases were followed up with additional ultrasound scans during pregnancy and follow up was continued until the children were almost nine years old.Chi square test,Fisher's exact test and Bonferroni method were used to analyze the data.Results Two hundred and forty one fetuses were followed up.Ninety-one cases were terminated,and 150 were born (105 cases in Mild Group,30 cases in Moderate Group,and 15 cases in Severe Group).During ultrasound follow up of the 150 cases,the lateral ventricle width regressed in 42 cases (28.0％) and remained stable in 108 cases (72.0％).In the regressed group,the ventricle width in 31 cases in the Mild Group regressed to normal and a hearing abnormality was noted in one case after birth.In the Moderate Group,the lateral ventricle width in nine cases regressed to normal,one case had mild ventriculomegaly,and none of these cases showed abnormalities after birth.One case in the Severe Group showed no abnormalities,while the width of the lateral ventricles decreased to 14.0 and 16.0 mm.With regard to the outcomes of lateral ventricle width with or without regression,one of 42 cases in the regressed group had a significant abnormality,while 19 of 108 cases in the stable group [eleven cases (14.9％,11/74) in Mild Group,two (10.9％,2/20) in Moderate Group,and six (6/14) in Severe Group] showed significant abnormalities.Statistically significant differences were found between the two groups [2.4％(1/42) vs 17.6％(19/108),x2=4.940,P=0.026].When the outcomes of the three groups were compared,12 of 105 cases in the Mild Group (11.4％),two of 30 cases in the Moderate Group (6.7％),and 6 of 15 cases in the Severe Group (6/15) had significant abnormalities.Statistically significant differences were found between the three groups (x2=6.908,P=0.032).Statistical significance was observed in the Moderate Group and Severe Group (x2=4.929,P=0.026),while the Mild Group had a more favorable prognosis than the Severe Group (x2=5.266,P=0.022).Chromosomal examinations were carried out in 57 cases and the incidence of chromosomal abnormalities was 8.8％(5/57) [7.0％ (3/43),1/8 and 1/6 in the three groups,respectively].Infection screening was performed in 29 cases and one case was found to be positive for rubella virus-IgM,two cases were positive for cytomegalovirus-IgM,and one case was positive for toxoplasma gondii-IgM.Conclusions Pregnancy outcomes and the prognosis of fetal ventriculomegaly are associated with the degree and progression of ventricular dilatation.

Advances of research on the mechanism of Down syndrome birth at advanced maternal age / 中华医学遗传学杂志

Down syndrome is caused by partial or complete triplication of genes located on chromosome 21. Its incidence increases dramatically with the age of women. Hypotheses proposed for this have included abnormal homologous recombination, defective spindle assembly, biological aging, reduction of cohesion complexes, endocrine disorders, oocyte selection model, and single nucleotide polymorphisms of genes that maintain chromosome stability, etc. A literature review is provided here.

Paeoniflorin inhibits functional responses of rat cerebellar Purkinje cells to acute hypoxia insult / 中国病理生理杂志

[ ABSTRACT] AIM:To investigate the effects of paeoniflorin ( Pae) on the functional responses induced by acute hypoxic insult in the rat cerebellar Purkinje cells ( PCs) .METHODS:The whole-cell patch clamp was used for the intra-cellular recording of PCs in the rat cerebellar slices to evaluate the changes of membrane potential, the excitability of PCs, and the parallel fibre ( PF)-PC excitatory postsynaptic currents ( EPSCs) upon acute hypoxic insult alone or with the pre-sence of Pae.RESULTS:PCs showed an initial hyperpolarization followed by brief depolarization and long lasting post-hy-poxia hyperpolarization after hypoxia exposure.Pae completely blocked hypoxia-induced hyperpolarization and decreased the amplitude and the duration of hypoxic depolarization.Hypoxia up-regulated the excitability of rat PCs.Pae didn’t show any significant effect on the hypoxia-induced hyperexcitability in PCs.Acute hypoxia induced long-term depression ( LTD) in rat cerebellar PF-PC EPSCs, and Pae partially reversed hypoxia-induced depression in PF-PC EPSCs.CONCLUSION:Pae significantly suppresses hypoxia-induced responses in rat PCs and probably increases the tolerance of rat PCs to acute hypoxia.

Karyotype analysis of amniotic fluid cells and comparison of chromosomal abnormality rate during second trimester / 中华妇产科杂志

ObjectiveTo investigate the karyotypes of amiotic fluid cells and compare the incidence of chromosomal abnormality as well as to evaluate the clinical significance of abnormal karyotypes. MethodsA total of 13 648 pregnant women came to Shanghai Jiai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, Fuclan University to do amniocentesis from September 1998 to November 2010, and 13 795 amniotic fluid specimens were successfully extracted and cultured, thus 13 795 fetuses received karyotype diagnosis. These fetuses were grouped according to different indications. If maternal age was ≥ 35, the fetuses were grouped into the advanced maternal age group (4065) ; and if maternal serum screening test revealed high-risk of trisomy 18 or trisomy 21, the fetuses were grouped into the high-risk serum screening group (6462) ; and those with abnormal signs of ultrasound screening were grouped into the abnormal ultrasound signs group (1539); and if either of the parents was with chromosome abnormalities, the fetus was grouped into the paternal/maternal abnormality group ( 108 ) ; whereas the remainder were grouped in other factors group ( 1621 ). The amniotic fluid cells were in-situ cultured on coverslips, harvested by conventional G-banded methods, and then analyzed by two doctors. In order to get rapid diagnosis, some pregnant women whose gestational age ≥26 weeks accepted fluorescense in situ hybridization (FISH). FISH was done on 78 uncultured amniotic fluid specimens using probes located at chromosome 13,18,21, X,Y. Some parents were required to analyze lymphocyte karyotype to help judging the origin of abnormal karyotype. Results( 1 ) Classification and composition of abnormal karyotypes in each group : a total of 388 abnormal karyotypes were found among 13 795 fetuses, and the abnormal rate was 2. 813％ (388/13 795).Of the 388 fetuses, aneuploidy was the most common pattern which was up to 59. 8％(232/388);autosomal structural abnormality rate was 24. 7％ ( 96/388 ) ; mosaicism was 12.4％ (48/388). Other uncommon abnormal karyotypes included marker chromosome (5/388,1.3％), sex chromosomal structural abnormality (4/388,1.0％) and triploid (3/388, 0. 8％ ). Aneuploidy was the most common in most groups except the patemal/matemal abnormality group. There were four cases of rare aneuploid in the advanced maternal age group,the high-risk serum screening group and the abnormal ultrasound signs group respectively. Every type of abnormality could be found in the abnormal ultrasound signs group, and autosomal structural abnormalities were concentratedin paternal/maternalabnormality group. Mosaicism mainly distributed in the high-risk serum screening group, accounting for 20. 0％ (29/145) of abnormalities in this group. (2) Abnormal types and the incidence: the most common type was trisomy 21 ( 138/388,35.6％ ),followed by autosomal balanced structural rearrangements( 80/388, 20. 6％ ), mosaicism(48/388,12. 4％ )and trisomy 18 (44/388,11.3％ ). Others included non-balanced autosomal structural rearrangements (16/388,4. 1％ ), 45 ,X0 ( 16/388,4. 1％ ) and 47 ,XXY( 15/388,3.9％ ). (3) Lymphocyte karyotype analysis of the couples: parents of 153 fetuses were analyzed to determine the origin of abnormal karyotype. Fifty-eight familial and 95 de novo abnormalities were found. FISH results were the same with G-banding karyotype, and two of these were trisomy 21. Conclusions Abnormal karyotype composition is different according to different maternal amniocentisis indications. There is a variety of abnormal karyotypes in the second trimester pregnancy, and the risk of fetal malformation is related with the kind of abnormal karyotype.

Prenatal diagnostics and outcome of ultrasonographic soft markers / 复旦学报（医学版）

Objective To review the clinical treatment and outcome of ultrasonographic soft markers in prenatal diagnostics. Methods This study recruited 268 pregnant women who underwent prenatal diagnostics in our hospital between Jun 2005 to Mar 2009. Fetuses were followed up postnatally. The outcome and chromosomal abnormalities of ultrasonographic soft markers were assessed. Results Of 268 cases consulted, 29 cases were missed (10.8%), 34 cases (12.7%) chose abortion, and 205 cases (76.5%) delivered. The top four most common delivered isolated markers were thickened nuchal fold, mild pyelectasis, echogenic bowel and rhizomelic limb shortening. Mild ventriculomegals had the highest aborted rate (17.2%). Six chromosomal structural abnormalities and one 21-trisome were detected in 59 fetuses who received chromosomal examination. Conclusions Ultrasonographic soft markers are risks to both fetal trisome and chromosomal structural abnormalities. Owing to extinction in most cases, consultant should be strengthed to avoid unnecessary invasive examination and abortion.

Effects of Baobaole oral liquid on neuron excitability of feeding center in anorectic rats / 中西医结合学报

OBJECTIVE: To investigate the effects of Baobaole oral liquid on neuronal excitability in lateral hypothalamic area (LHA) and ventromedial hypothalamic nuclear (VMN) in anorectic rats. METHODS: The anorectic rat model was established by feeding with special prepared forage for a week, and then Baobaole oral liquid, a liquid extract of a compound traditional Chinese medicine for activating spleen, was administered once a day for 3 weeks. Finally, extracellular recording from LHA and VMN neurons in rats were made in order to characterize their responses to gastric vagal nerve stimulation and intravenous injection of glucose in the normal, untreated, and Baobaole-treated groups. RESULTS: There was no statistical difference in response characteristics of LHA neurons to gastric vagal stimulation among 3 groups. The duration of VMN neuron excitation response to gastric vagal nerve stimulation in the untreated group was significantly longer than that of the normal control group (P<0.01), while the required stimulation intensity was significantly decreased (P<0.01). Moreover, among the neurons responding to the gastric vagal stimulation in the untreated group, the number of glycemia-sensitive neurons decreased in LHA and increased in VMN (P<0.01). The gastric vagal stimulation induced neuron responses in LHA and VMN of the Baobaole-treated group were not significantly changed as compared with the normal control group (P<0.01), and neither were the intravenous injection of glucose induced responses. CONCLUSION: Baobaole oral liquid can modulate the sensitivity of LHA and VMN neurons to the peripheral signal and make the coordination between LHA and VMN neurons in order to improve the appetite of anorectic rats.

The suppressive effects of IFN-α on human gastric carcinoma cell line BGC-823 / 中国病理生理杂志

AIM: To observe the inhibitory effect of interferon-α ( IFN-α) on the growth invasiveness and metastasis of human gastric carcinoma cell line BGC-823, and mechanism of its action. METHODS: We detected the influence of IFN-α on the proliferative ability of BGC-823 in cell culture system, the cell vitality with the MTT colorimetric assay, and the cell cycle with flow cytometer (FCM). The regulatory functions of IFN-α to the expression of E-cadherin and matrix metalloproteinase-2 ( MMP-2) in tumor cells were estimated by immunohistochemical analysis ( S-P). The ultrastructural changes of the junction among the tumor cells were observed under electron microscope. RESULTS : IFN-α can significantly inhibit the growth of human gastric carcinoma cell line BGC-823 in a dose-dependent manner. When the concentration of IFN-α was ≥106 U/L, the cell proliferation can be effectively suppressed,the suppression rate was ≥ 12. 2%, and the blockage appeared at the phase of G1-S of the cell cycle. Under the induction of IFN-α, the expression level of the cell E-cadherin increased while the MMP-2 decreased. The changes on ultrastructure of the cells showed the increased adhesive junctions and the relative compact structure. CONCLUSION: IFN-α can suppress the growth of human gastric carcinoma cell line BGC-823 through its influence on cell cycle. IFN-α can regulate the expression of E-cadherin and MMP-2, make the cell junction closely, so that it has the potential on restricting the invasion and metastasis of gastric carcinoma cells.

The suppressive effects of IFN-? on human gastric carcinoma cell line BGC-823 / 中国病理生理杂志

AIM:To observe the inhibitory effect of interferon-?(IFN-?)on the growth invasiveness and metastasis of human gastric carcinoma cell line BGC-823,and mechanism of its action.METHODS:We detected the influence of IFN-? on the proliferative ability of BGC-823 in cell culture system,the cell vitality with the MTT colorimetric assay,and the cell cycle with flow cytometer(FCM).The regulatory functions of IFN-? to the expression of E-cadherin and matrix metalloproteinase-2(MMP-2)in tumor cells were estimated by immunohistochemical analysis(S-P).The ultrastructural changes of the junction among the tumor cells were observed under electron microscope.RESULTS:IFN-? can significantly inhibit the growth of human gastric carcinoma cell line BGC-823 in a dose-dependent manner.When the concentration of IFN-? was ≥106 U/L,the cell proliferation can be effectively suppressed,the suppression rate was ≥12.2%,and the blockage appeared at the phase of G_1-S of the cell cycle.Under the induction of IFN-?,the expression level of the cell E-cadherin increased while the MMP-2 decreased.The changes on ultrastructure of the cells showed the increased adhesive junctions and the relative compact structure.CONCLUSION:IFN-? can suppress the growth of human gastric carcinoma cell line BGC-823 through its influence on cell cycle.IFN-? can regulate the expression of E-cadherin and MMP-2,make the cell junction closely,so that it has the potential on restricting the invasion and metastasis of gastric carcinoma cells.