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排序方式: 共有205条查询结果,搜索用时 31 毫秒
1.
David L. Skidmore Aditya P. Pai Ants Toi Leslie Steele David Chitayat 《黑龙江环境通报》2003,23(12):1009-1013
Two de novo cases with Apert Syndrome detected prenatally are presented herein. In the first, fetal ultrasound findings of syndactyly of the hands, craniosynostosis and proptosis resulted in a prenatal diagnosis in the nineteenth week of gestation. This is the earliest prenatal diagnosis of this syndrome in a not-at-risk case. Following counseling, this pregnancy was terminated and subsequent pathological examination and DNA analysis confirmed the diagnosis of Apert Syndrome and coarctation of the aorta. In the second case, fetal ultrasound at 21 weeks' gestation revealed a hypoplastic left heart and clover-leaf skull. Following counseling, this pregnancy was also terminated. Further examination of the fetus and DNA analysis led to a diagnosis of Apert Syndrome. These cases emphasize the need to complete a thorough fetal ultrasound in cases with potentially lethal cardiac abnormality and the importance of incorporating a fetal pathologist, as well as a medical geneticist, in the investigations performed after delivery or pregnancy termination when a fetal abnormality is detected on ultrasound. Copyright © 2003 John Wiley & Sons, Ltd. 相似文献
2.
Dr. J. F. Bruch P. Metezeau N. Garcia-Fonknechten Y. Richard V. Tricottet B.-L. Hsi A. Kitzis C. Julien E. Papiernik 《黑龙江环境通报》1991,11(10):787-798
Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male fetuses. At the ultra-structural level, most of the nucleated cells had the morphology of leucocytes, suggesting maternal contaminants, and we did not find the characteristic features of the free inter-villous trophoblast cells. Nevertheless, polymerase chain reaction (PCR) analysis showed an amplification of Y-specific sequences in two out of three samples of sorted TLCs. These results suggest that besides the maternal leucocytes, sufficient trophoblast nucleated fetal cells can be obtained using cell enrichment by sorting. This sensitive method holds promise for non-invasive prenatal diagnosis of fetal sex and if sufficient Y(positive) nuclei are found, for the diagnosis of selected numerical chromosome abnormalities. 相似文献
3.
4.
Jan Gustafsson Göran Annerén Ulla-Britt Ericsson Lars Svanberg Sten A. Ivarsson 《黑龙江环境通报》1995,15(5):451-454
The observation that thyroid disease is frequent in mothers of children with Down syndrome (DS) has suggested that maternal thyroid antibodies could be a factor predisposing to trisomy 21 in their offspring. In this study, the incidences of thyroglobulin (Tg) and thyroid peroxidase (TPO) antibodies were analysed with a sensitive solid-phase immunosorbent radioassay in sera from 29 mothers giving birth to children with trisomy 21 and 87 control mothers. The serum samples were collected at delivery. There was no statistical difference regarding the proportion of thyroid antibodies (against Tg and/or TPO) in the two groups. Thyroid antibodies were detected in 6/29 (20.7 per cent) of the DS mothers and in 23/87 (26.4 per cent) of the control mothers. Among the women with thyroid antibodies, 4/6 (66.7 per cent) of the DS mothers and 12/23 (52 per cent) of the control mothers had antibodies against both Tg and TPO. There was no increase in the relative risk of having a child with DS if the titre of either Tg or TPO antibodies or both were positive, i.e. ≥ 1/5. The results indicate that the presence of thyroid antibodies in the serum of a pregnant woman has no prognostic value for the birth of an infant with DS. 相似文献
5.
Diana W. Bianchi MD Gretchen K. Zickwolf Melissa C. Yih Alan F. Flint Ossie H. Geifman Marlena S. Erikson John M. Williams 《黑龙江环境通报》1993,13(4):293-300
Fetal nucleated erythrocytes (NRBC) in maternal blood are a non-invasive source of fetal DNA for prenatal genetic screening. We compared the effectiveness of three monoclonal antibodies for the separation of fetal cells from maternal blood by flow sorting. Mononuclear blood cells from 49 healthy pregnant women were incubated with antibody to CD 71, CD 36, and/or glycophorin A (GPA), employed singly or in combination with each other. These monoclonal antibodies recognize surface antigens on haematopoietic precursor cells. Successful isolation of fetal cells was defined as detection of Y chromosomal sequences in maternal blood from women carrying male fetuses, with absence of Y sequences when female fetuses were carried. Thus, gender prediction accuracy was used as a measure of fetal cell separation. Using anti-CD 71 to isolate fetal cells, gender prediction was 57 per cent correct; with anti-CD 36, it was 88 per cent correct. Anti-GPA, an erythrocyte-specific antigen, used alone or in combination with anti-CD 71 or 36, improved gender prediction to 100 per cent. We conclude that antibody to GPA improves the retrieval of fetal NRBC from maternal blood, permitting genetic analysis by the polymerase chain reaction. 相似文献
6.
Dr. E. Gratacós P. J. Torres J. Vidal J. Font E. Antolin V. Cararach A. Fortuny 《黑龙江环境通报》1995,15(12):1109-1113
Anticardiolipin antibodies were measured in 60 pregnant women with acute parvovirus B19 infection. Test results for eight (13.3 per cent) women were positive for anticardiolipin antibody. Six of these eight women became negative later, yielding a prevalence of anticardiolipin antibodies of 3.3 per cent (2/60) 6 months after acute parvovirus B19 infection. Anticardiolipin antibody positivity was not associated with an increased risk of abortion, fetal death, or maternal complications. This study suggests that there is an elevated frequency of anticardiolipin antibodies in pregnant women with acute parvovirus B19, probably representing an epiphenomenon. However, this is not associated with an adverse maternal or perinatal outcome. 相似文献
7.
Howard Cuckle Nicholas Wald Rossana Stone James Densem James Haddow George Knight 《黑龙江环境通报》1988,8(6):439-445
Thyroid antibodies were measured in mid-trimester antenatal serum samples from 77 pregnancies affected by fetal Down's syndrome and 385 unaffected control pregnancies. Using a haemagglutination technique, thyroglobulin antibodies were detected in 5·2 per cent of cases (4) and 2·9 per cent of controls (11), and thyroid microsomal antibodies were detected in 22 per cent (17) and 15 per cent (59), respectively. Using an enzyme-linked immunosorbent assay (ELISA) for thyroglobulin antibodies and a cut-off level of 50 KIU/1, positive results were found in 25 per cent of cases (19) and 22 per cent of controls (84). Using an ELISA for thyroid microsomal antibodies and the same cut-off level, the proportions were 52 per cent (40) and 39 per cent (149), respectively. While not statistically significant, the differences were consistent with the previously reported increased levels of thyroid antibody found in nonpregnant women who had had pregnancies associated with Down's syndrome. 相似文献
8.
A syncytiotrophoblast-associated antigen identified by the monoclonal antibody (McAb) H315 is detectable on the surface of a low proportion of peripheral blood cells in pregnant women, raising the possibility of a new approach to prenatal diagnosis of genetic disorders. We aimed at verifying the trophoblastic origin of H315+ cells and their use for prenatal diagnosis of β-thalassaemia. H315 + cells were separated from the peripheral blood of pregnant women: the DNA obtained from these cells in two selected cases was shown to have genetic markers indistinguishable from those of the mother and definitely different from the fetus. Our results suggest that H315 antigen is expressed by maternal cells and that prenatal diagnosis on peripheral blood of the mother using H315 McAb is not feasible. 相似文献
9.
Qinqin Lou Yinfeng Zhang Dongkai Ren Haiming Xu Yaxian Zhao Zhanfen Qin Wuji Wei 《环境科学学报(英文版)》2014,26(10):2084-2094
Considering some advantages of Rana nigromaculata as an experimental species, we propose that this species, like Xenopus laevis, could be used to assay thyroid hormone(TH) signaling disrupting actions. To validate the utilizability of R. nigromaculata, we investigated the responsiveness of R. nigromaculata to a TH receptor(TR) agonist(T3) and antagonist(amiodarone) by analyzing expression, based on characterizing TR cDNA and developmental expression patterns. With high levels of identity with the corresponding genes in X. laevis, both TRα and TRβ in R. nigromaculata exhibited roughly similar developmental expression patterns to those of X. laevis, in spite of some species-specific differences. Both TRα and TRβ expression had greater changes in the liver and intestine than in the tail and brain during metamorphosis. T3 exposure for 2 days induced more dramatic increases of TRβ expression in stage 27 than in stage34 tadpoles but not in stage 42 tadpoles, showing that the responsiveness of R. nigromaculata to TH decreased with development and disappeared at the onset of metamorphic climax.Corresponding to greater changes of TRβ expression in the liver and intestine than in the tail and brain during metamorphosis, the liver and intestine had higher responsiveness to exogenous T3 than the tail and brain. Amiodarone inhibited T3-induced TRβ expression. Our results show that R. nigromaculata can be used as a model species for assaying TH signaling disrupting actions by analyzing TRβ expression, and intestine tissues at stage 27 are ideal test materials due to high responsiveness and easy accessibility. 相似文献
10.
Robert Kase Peter D. Hansen Birgit Fischer Werner Manz Peter Heininger Georg Reifferscheid 《Environmental science and pollution research international》2009,16(1):54-64
Background, aim, and scope The enzyme-linked receptor assay (ELRA) detects estrogenic and anti-estrogenic effects at the molecular level of receptor
binding and is a useful tool for the integrative assessment of ecotoxicological potentials caused by hormonally active agents
(HAA) and endocrine disrupting compounds (EDC). The main advantage of the ELRA is its high sample throughput and its robustness
against cytotoxicity and microbial contamination. After a methodological adaptation to salinity of the ELRA, according to
the first part of this study, which increased its salinity tolerance and sensitivity for 17-β-estradiol, the optimised ELRA
was used to investigate 13 native sediments characterised by different levels of salinity and chemical contamination. The
applicability of the ELRA for routine analysis in environmental assessment was evaluated. Salinity is often a critical factor
for bioassays in ecotoxicological sediment assessment. Therefore, salinity of the samples was additionally adjusted to different
levels to characterise its influence on elution and binding processes of receptor-binding substances.
Materials and methods The ELRA was carried out with the human estrogen receptor α (ER) in a 96-well microplate format using the experimental setup
known from the competitive immunoassay based on ligand–protein interaction. It is an important improvement that a physiologically
relevant receptor was used as a linking protein instead of an antibody. The microplates were coated with a 17-β-estradiol-BSA
conjugate, and dilution series of estradiol and of native sediment samples were added and incubated with the ER. After a washing
step, a biotinylated mouse anti-ER antibody was added to each well. Receptor binding to estradiol, agonistic and antagonistic
receptor binding, were determined by a streptavidin-POD-biotin complex with subsequent measurement of the peroxidase activity
at the wavelength of 450 nm using a commercial ELISA multiplate reader. The sediment elutriates and pore water samples of
sediments were tested in a dilution series to evaluate at which dilution step the receptor-binding potential ends. In the
elution process (see Section 2.1 to 2.2), a method was developed to adjust the salinity to the levels of the reference testings, which offers an appropriate option
to adjust the salinity in both directions. Statistical evaluation was made with a combination of the Mann–Whitney U test and the pT-method.
Results This part of the study characterised the environmental factor ‘salinity’ for prospective applications of the ELRA. Using reference
substances such as 17-β-estradiol, the ELRA showed sigmoid concentration-effect relations over a broad range from 0.05 μg/l
to 100 μg/l under physiological conditions. After methodological optimisation, both sensitivity and tolerance of the assay
against salinity could be significantly raised, and the ELRA became applicable under salinity conditions up to concentrations
of 20.5‰. The mean relative inter-test error (n = 3) was around 11% with reference substances and below 5% for single sediments elutriates in three replicates each. For
sediment testings, the pore water and different salinity-adjusted elutriates of 13 sediments were used. A clear differentiation
of the receptor-binding potential could be reached by application of the pT-method. Thereby, pT-values from one to six could
be assigned to the sediments, and the deviation caused by the different salinity conditions was one pT-value. The mean standard
deviation in the salinity adaptation procedure of the elutriates was below 5%.
Discussion Although the ELRA has already been used for assessments of wastewater, sludge and soil, its applicability for samples to different
salinity levels has not been investigated so far. Even if the ELRA is not as sensitive as the E-screen or the YES-assay, with
regard to reference substances like 17-β-estradiol, it is a very useful tool for pre-screening, because it is able to integrate
both estrogenic as well as anti-estrogenic receptor-binding effects. According to the results of sediment testing, and given
the integrative power to detect different directions of effects, the ELRA shows sufficient sensitivity and salinity tolerance
to discriminate receptor-binding potentials in environmental samples.
Conclusions The optimised ELRA assay is a fast, cost-effective, reliable and highly reproducible tool that can be used for high-throughput
screening in a microplate format in detecting both estrogenic and anti-estrogenic effects. Additionally, the ELRA is robust
against microbial contaminations, and is not susceptible towards cytotoxic interferences like the common cell-culture methods.
The general applicability and sufficient sensitivity of the ELRA was shown in freshwater environments. Marine and brackish
samples can be measured up to salinity levels of 20.5‰.
Recommendations and perspectives In view of the proven sensitivity, functionality and the fastness of the ELRA, it is recommendable to standardise the test
method. At the moment, no adequate in vitro test procedure exists which is standardised to DIN or ISO levels. The E-screen
and the yeast estrogen/androgen screens (YES/YAS) sometimes underlie strong cytotoxic effects, as reported in the first part
of this study. Further development of an ELRA assay using human androgen receptors appears to be very promising to gain information
about androgenic and anti-androgenic effects, too. This would offer a possibility to use the ELRA as a fast and reliable pre-screening
tool for the detection of endocrine potentials, thus minimising time and cost-expensive animal experiments. 相似文献