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531.
Forty-two open neural tube defects (NTDs) were identified in our series of 7440 amniocenteses tested between 11 and 15 weeks of gestation. Using a cut-off of ≥2.0 MOM, the detection rate for open NTDs was 95 per cent; 100 per cent each for anencephaly and spina bifida; and 78 per cent for encephalocele. Two encephaloceles had AFP levels less than 2.0 MOM and negative AChEs. Thirty-four (81 per cent) of these NTDs were tested between 13 and 15 weeks and 8 (19 per cent) before 13 weeks. There were 0.6 per cent false positives by AFP (excluding serious abnormalities and fetal death) and 0.1 per cent after AChE. The likelihood of an open NTD after an elevated AFP (≥2.0 MOM) was 24 and 77 per cent for any serious abnormality. These results, when combined with an earlier study, indicate that amniotic fluid AFP appears to be as sensitive a test for open NTDs between 13 and 15 weeks as between 16 and 20 weeks. Additional experience is necessary to determine this before 13 weeks. 相似文献
532.
Tzipora C. Falik-Borenstein MD Stuart A. Holmes Zvi Borochowitz Abi Levin A. Rosenmann Richard A. Spritz 《黑龙江环境通报》1995,15(4):345-349
We describe molecular prenatal diagnosis and carrier detection of tyrosinase-negative oculocutaneous albinism (OCA1A) in two families. In one family, we carried out DNA-based prenatal diagnosis of OCA1A. In the other family, mutation analysis and carrier detection obviated the need for prenatal diagnosis. Molecular analysis is safer and probably more accurate than fetoscopy and fetal scalp biopsy, and should become the method of first choice for prenatal diagnosis of OCA1. 相似文献
533.
534.
Introduction
This study examined the impact of the British Petroleum (BP) Baker Panel Report, reviewing the March 2005 BP-Texas City explosion, on the field of process safety.Method
Three hundred eighty-four subscribers of a process safety listserv responded to a survey two years after the BP Baker Report was published.Results
Results revealed respondents in the field of process safety are familiar with the BP Baker Report, feel it is important to the future safety of chemical processing, and believe that the findings are generalizable to other plants beyond BP-Texas City. Respondents indicated that few organizations have administered the publicly available BP Process Safety Culture Survey. Our results also showed that perceptions of contractors varied depending on whether respondents were part of processing organizations (internal perspective) or government or consulting agencies (external perspective).Conclusions
This research provides some insight into the beliefs of chemical processing personnel regarding the transportability and generalizability of lessons learned from one organization to another.Impact on Industry
This study has implications for both organizational scientists and engineers in that it reveals perceptions about the primary mechanism used to share lessons learned within one industry about one major catastrophe (i.e., investigation reports). This study provides preliminary information about the perceived impact of a report such as this one. 相似文献535.
Introduction
Falls in older Australians are a significant public health issue with one in three older people falling one or more times each year.Method
Many fall prevention randomized controlled trials have been conducted in Australia as well as across the world.Results
The findings of these studies now constitute a substantial evidence base that can provide direction for health and lifestyle interventions for preventing falls in older people. This research evidence has contributed to health policy in Australia to some extent, but is yet to be widely implemented into practice. This opinion piece overviews previous policy initiatives and describes a new Partnership research program funded by the Australian National Health and Medical Research Council (NHMRC), which seeks to further influence health policy and address the ongoing research-practice gap. 相似文献536.
537.
538.
Mr. M. T. Rebello G. Hackett J. Smith F. E. Loeffler S. Robson N. Maclachlan R. W. Beard C. H. Rodeck R. Williamson D. V. Coleman C. Williams 《黑龙江环境通报》1991,11(1):41-46
Ten-ml samples of amniotic fluid were taken from pregnancies being terminated at 8–14 weeks' gestation. DNA was extracted from the amniotic cells by sequential centrifugation and analysed using the polymerase chain reaction (PCR). Fifteen samples were analysed for evidence of maternal contamination using Mfd5 oligo-nucleotide primers for repeat polymorphisms. Ten amniotic fluid samples were tested for the Delta-F508 deletion characteristic of cystic fibrosis to demonstrate a diagnostic application for the technique. In each case, DNA extracted from fetal tissue from the same pregnancy was included in the controls. In 14 of the 15 cases tested with the Mfd5 primers, both the amniotic fluid DNA and the fetal DNA showed no evidence of contaminating DNA. In one case, neither the amniotic fluid cells nor the fetal cells yielded results. In nine of the ten cases tested with the Delta-F508 primers, the amniotic fluid cell DNA provided accurate information about the genetic status of the fetus; in the tenth, the fetal DNA failed to amplify. The results indicate that adequate DNA can be extracted from amniotic fluid from 8 weeks' gestation onward and these samples are suitable for prenatal diagnosis using PCR. 相似文献
539.
G. A. Hackett Dr. J. H. Smith M. T. Rebello C. T. H. Gray D. E. Rooney R. W. Beard F. E. Loeffler D. V. Coleman 《黑龙江环境通报》1991,11(5):311-315
Early arnniocentesis between 11 and 14 weeks' gestation was offered to 110 women at risk of a chromosomally abnormal fetus due to maternal age. Four were found to be unsuitable for the procedure, and 106 early amniocenteses were performed. In 102 cases, clear amniotic fluid was obtained with a single tap. There were two dry taps and two bloodstained tapis; sampling was repeated in three of these cases before 15 weeks. In the fourth case, placental biopsy was performed at 16 weeks. Thus, we were able to obtain a satisfactory sample in all but three cases(2.8 percent). Karyotyping of cells harvested from the early amniotic fluid samples was successful in all the 105 cases. Cell culture from the initial samples revealed a normal karyotype in 99 cases, two balanced translocations, two tetraploid karyotypes, and two cases of pseudomosaicism. Of the 105 pregnancies successfully sampled, there have been two losses to date (1–8 per cent). Two further patients presented with premature rupture of membranes, both pregnancies having successful outcomes. Sixty-two babies have delivered to date, with four congenital anomalies. There were no respiratory problems. Twenty-nine pregnancies are continuing without known complications, and details are not yet available on the remaining 12. The results indicate that early arnniocentesis may replace the traditional test at 15–17 weeks. 相似文献
540.
C. Clark K. F. Kelly N. Smith N. Fairweather T. Brown A. Johnston N. E. Haites 《黑龙江环境通报》1991,11(7):467-470
The polymerase chain reaction has been used to detect an abundant class of short repeat DNA families of the form (dC-dA)n.(dG-dT)n, known as microsatellites. These units are found throughout the human genome and have been characterized for several loci including APOC2 on chromosome 19ql2-ql3.2. The locus APOC2 is linked to the gene for dystrophia myotonica and a microsatellite within this locus was used to derive polymorphisms in a family to predict the inheritance of the disease. Chorionic villus sampling (CVS) was performed at 151/2 weeks' gestation. Following DNA extraction from the CVS material and parental blood samples, microsatellite analysis was carried out by the polymerase chain reaction. 相似文献