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1.
Using a modified procedure by Solomons and Styner (1969), an evaluation of inorganic pyrophosphate (PPi) was performed on the amniotic fluid of two fetuses at risk for osteogenesis imperfecta (OI) at 14½ weeks gestation. The parents of both cases had a previous child with OI, Type II. The normal control group at 14–16 weeks gestation had PPi values ranging from 22.0–59.2 ug/100 ml, with a mean of 38.6±9.51 ug/100 ml. In each at-risk fetus, the amniotic fluid PPi value was within normal range. The first baby was born phenotypically normal at term. Intrauterine radiographic and fetal sonograms were done on the second fetus at approximately 19 weeks gestation. Both showed evidence of OI, Type II. The pregnancy was terminated at 21 weeks. Radiologic studies of the aborted fetus were consistent with OI, Type II. Our results indicate that the evaluation of PPi levels in amniotic fluid is not the method of choice for prenatal diagnosis of IO.  相似文献   
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We have documented the presence of five mitochondrial enzymes in samples of chorionic villus tissue and measured the levels of activity. Three of the enzymes catalyse biotindependent reactions. These are propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase and pyruvate carboxylase. the other enzymes. 4-aminobutyric acid aminotransferase and succinic semialdehyde dehydrogenase, are involved inthe degradation of the central inhibitory neurotransmitter GABA. Distinct diseases in whichthere is deficiency of each of these enzymes have been documented in man. Significant levels of activity were observed for all five enzymes in chorionic villus tissue. This methodology should permit early prenatal diagnosis of deficiencies of these enzymes by chorionic villus biopsy in the first trimester.  相似文献   
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Maternal serum free beta (hCG) levels are elevated (median 2·20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Down syndrome in the first trimester. Altered levels of the free beta analyte are observed in pregnancy conditions or complications other than Down syndrome.  相似文献   
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We briefly outline the information-theoretic (I-T) approaches to valid inference including a review of some simple methods for making formal inference from all the hypotheses in the model set (multimodel inference). The I-T approaches can replace the usual t tests and ANOVA tables that are so inferentially limited, but still commonly used. The I-T methods are easy to compute and understand and provide formal measures of the strength of evidence for both the null and alternative hypotheses, given the data. We give an example to highlight the importance of deriving alternative hypotheses and representing these as probability models. Fifteen technical issues are addressed to clarify various points that have appeared incorrectly in the recent literature. We offer several remarks regarding the future of empirical science and data analysis under an I-T framework.  相似文献   
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For sea turtles, an ability to detect land masses from a considerable distance away, and to distinguish coastal areas from the open sea, might be adaptive. The loggerhead turtle, Caretta caretta, can detect airborne odorants associated with food. To investigate whether sea turtles can also detect odors associated with land, we studied the responses of juvenile loggerheads to odors from coastal mud. Turtles were tested in a water-filled arena in which odorants could be introduced to the air above the water surface. Turtles exposed to air that had passed over a cup containing mud spent more time with their noses out of the water than did control turtles exposed to air that had passed over a cup containing distilled water. The results demonstrate for the first time that loggerheads can detect airborne odorants associated with land, an ability that might play a role in foraging, navigation, or both.  相似文献   
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The International Union for Conservation of Nature's Red List of Threatened Species (IUCN Red List) is the world's most comprehensive information source on the global conservation status of species. Governmental agencies and conservation organizations increasingly rely on IUCN Red List assessments to develop conservation policies and priorities. Funding agencies use the assessments as evaluation criteria, and researchers use meta-analysis of red-list data to address fundamental and applied conservation science questions. However, the circa 143,000 IUCN assessments represent a fraction of the world's biodiversity and are biased in regional and organismal coverage. These biases may affect conservation priorities, funding, and uses of these data to understand global patterns. Isolated oceanic islands are characterized by high endemicity, but the unique biodiversity of many islands is experiencing high extinction rates. The archipelago of Hawaii has one of the highest levels of endemism of any floristic region; 90% of its 1367 native vascular plant taxa are classified as endemic. We used the IUCN's assessment of the complete single-island endemic (SIE) vascular plant flora of Kauai, Hawaii, to assess the proportion and drivers of decline of threatened plants in an oceanic island setting. We compared the IUCN assessments with federal, state, and other local assessments of Kauai species or taxa of conservation concern. Finally, we conducted a preliminary assessment for all 1044 native vascular plants of Hawaii based on IUCN criterion B by estimating area of occupancy, extent of occurrence, and number of locations to determine whether the pattern found for the SIE vascular flora of Kauai is comparable to the native vascular flora of the Hawaiian Islands. We compared our results with patterns observed for assessments of other floras. According to IUCN, 256 SIE vascular plant taxa are threatened with extinction and 5% are already extinct. This is the highest extinction risk reported for any flora to date. The preliminary assessment of the native vascular flora of Hawaii showed that 72% (753 taxa) is threatened. The flora of Hawaii may be one of the world's most threatened; thus, increased and novel conservation measures in the state and on other remote oceanic islands are urgently needed.  相似文献   
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From 1977–1978 to 1990, concentrations of polychlorinated biphenyls (PCBs) and most organochlorine pesticides declined in eggs of red-breasted mergansers (Mergus serrator) nesting on islands in northwestern Lake Michigan. Total PCBs decreased 60% (from 21 ppm in 1977–1978 to 8.5 ppm in 1990) and p,p-DDE decreased 66% (from 6.5 to 2.2 ppm). Dieldrin decreased only 16% (from 0.82 to 0.69 ppm). In 1990, 79.1% of incubated eggs hatched, which was not significantly different from the 83.5% that hatched in 1977–1978.The U.S. Government right to retain a non-exclusive, royalty free licence in and to any copyright is acknowledged.  相似文献   
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