Identification of iduronate-2-sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis. We describe here three cases of prenatal diagnosis by direct detection of the gene mutation. In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. The latter pregnancy was carried to term and the child is obviously not affected by MPS II. 相似文献
The concentration of human placental lactogen (hPL), pregnancy specific beta-1 glycoprotein (SP-1) and pregnancy-associated plasma protein A (PAPP-A) were analysed in consecutive serum samples from a patient who gave birth to a child with Cornelia de Lange syndrome. HPL and SP-1 were present in normal concentrations from week 20 to week 35 of gestation whereas PAPP-A could not be detected in any of the samples examined. Immunohisto-chemical examination of two placentae from Cornelia de Lange syndrome revealed normal localization of hPL and SP-1 but the absence of PAPP-A from the syncytiotrophoblast. The significance of association between Cornelia de Lange syndrome and compromised synthesis of PAPP-A is discussed. 相似文献
Carbon isotope differences (Δ13C) between bioapatite and diet, collagen and diet, and bioapatite and collagen were calculated for four species of sirenians,
Dugong dugon (Müller), Trichechus manatus (Linnaeus), Trichechus inunguis (Natterer), and the extinct Hydrodamalis gigas (Zimmerman). Bone and tooth samples were taken from archived materials collected from populations during the mid eighteenth
century (H. gigas), between 1978 and 1984 (T. manatus, T. inunguis), and between 1997 and 1999 (D. dugon). Mean Δ13C values were compared with those for terrestrial ungulates, carnivores, and six species of carnivorous marine mammals (cetaceans = 1;
pinnipeds = 4; mustelids = 1). Significant differences in mean δ13C values among species for all tissue types were detected that separated species or populations foraging on freshwater plants
or attached marine macroalgae (δ13C values < −6‰; Δ13Cbioapatite–diet ∼14‰) from those feeding on marine seagrasses (δ13C values > −4‰; Δ13Cbioapatite–diet ∼11‰). Likewise, Δ13Cbioapatite–collagen values for freshwater and algal-foraging species (∼7‰) were greater than those for seagrass-foraging species (∼5‰). Variation
in Δ13C values calculated between tissues and between tissues and diet among species may relate to the nutritional composition of
a species’ diet and the extent and type of microbial fermentation that occurs during digestion of different types of plants.
These results highlight the complications that can arise when making dietary interpretations without having first determined
species-specific Δ13Ctissue–diet values.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. 相似文献
Detection of norovirus (NoV) and hepatitis A virus (HAV) on fruits and vegetables using current standard methodologies can be inefficient. Method optimisat 相似文献
In-vessel composting of an aged coal-tar contaminated soil from a manufactured gas plant site was investigated over 98days using laboratory-scale in-vessel composting reactors. The composting reactors were operated at 18 different operational conditions using a logistic three-factor factorial design with three temperatures (T=38, 55 and 70 degrees C), four soil to green waste ratios (S:GW; 0.6:1, 0.7:1, 0.8:1 and 0.9:1 on a dry weight basis) and three moisture contents (MC; 40%, 60% and 80%). Excitation-emission matrix (EEM) fluorescence spectroscopy was used to investigate organic matter dynamics in the composting mixture. The results of this investigation indicated that formation of humic substances can be monitored by fluorescence excitation-emission matrix, and provided evidence of progressive mineralization or humification of the composting mixture. Peak excitation wavelength shifts and peak fluorescence intensity can both be used as indicators to monitor the humification or maturation of compost. Finally, the fluorescence index can be applied to investigate the origin of humic substances and fulvic acids, and the humification or maturation of compost. 相似文献
Objective: Alcohol-impaired driving is a significant factor in fatal and serious injury-producing crashes in the United States and many other countries. In 2013, the State of Maryland implemented an anti-driving under the influence (DUI) enforcement program, called the State Police Impaired Driving Reduction Effort (SPIDRE). This enforcement effort consisted of a select team of 7 police officers from the Maryland State Police who engaged in high-intensity driving under the influence (DUI) enforcement. The purpose of this evaluation was to determine the impact of the SPIDRE program on impaired-driving crashes, DUI arrests, DUI adjudicative outcomes, and public perceptions of DUI enforcement.
Methods: Data from alcohol-related crashes, arrests, and adjudicative outcomes of those arrests were used, along with data obtained from public opinion and bar patron surveys, to compare counties where the SPIDRE program operated and non-SPIDRE counties where it did not. The evaluation period extended from 2010 to 2016 in monthly intervals. Autoregressive integrated moving average (ARIMA) methods were used for the data analyses of crashes and arrests.
Results: There was no significant reduction in alcohol-related crashes as reported by the police associated with the SPIDRE program. However, there was a statistically significant decrease in the ratio of single-vehicle nighttime to multiple-vehicle daytime crashes in the SPIDRE counties but not in any other counties, suggesting a positive effect using this surrogate measure of impaired-driving crashes. The specific comparison counties as well as the other non-SPIDRE counties in Maryland experienced a statistically significant decrease in DUI arrests during the evaluation period, whereas the SPIDRE counties did not show such a decrease. Further, the arrests made by the SPIDRE team resulted in a significantly higher rate of positive adjudicative outcomes than arrests made by non-SPIDRE officers in those counties where the SPIDRE team operated. There was no evidence that the public was more aware of DUI enforcement efforts in the SPIDRE counties than in the non-SPIDRE counties.
Conclusions: The SPIDRE program appeared able to prevent a downward trend in DUI arrests, experienced by the rest of the state, and achieved higher quality arrests resulting in more positive adjudicative outcomes. The way in which the SPIDRE team was deployed may have lacked sufficient duration and intensity (e.g., only 2–3 months of activity in any given county) to achieve a reduction in alcohol-impaired-driving crashes as reported by the police. It is recommended that the SPIDRE team increase its enforcement activities for at least 9–12 consecutive months in the county where they are employed. 相似文献