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Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors—in addition to MCAD mutations—involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.  相似文献   
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Chronosequences are useful to evaluate long-term changes in ecosystem services but assessing groundwater quality changes using this approach has rarely been done. In this study, groundwater level and quality comparisons were made in a watershed-scale reconstructed prairie chronosequence that extended back in time approximately 13 years at the Neal Smith National Wildlife Refuge (NSNWR) near Prairie City, Iowa. Our objectives were to determine whether groundwater conditions varied significantly across the chronosequence and quantify the rate of nitrate concentration reduction when row crop fields are replaced by prairie. We installed 19 groundwater wells at upland locations selected to provide similar soil type, landscape position and slope. Water samples were collected on five occasions in 2006 and 2007 and analyzed for field parameters, anions and NO3-N, NH4-N and PO4-P. Significant groundwater changes were primarily associated with groundwater levels, and groundwater nitrate and chloride concentrations. The groundwater was deeper under the older prairie plantings but fluctuated similarly among all well sites. Groundwater nitrate and chloride concentrations decreased 0.58 and 0.52 mg/l per year over the 13-year chronosequence, respectively. Results are seen to provide some guidance to land managers regarding possible nitrate concentration reductions achievable from converting cropland to perennial land cover in similar geomorphic settings.  相似文献   
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