Prenatal Diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops

Blood was obtained by cordocentesis from a fetus with non-immune hydrops demonstrated by ultrasound scanning at 27 weeks' gestation. Abnormalities of serum transferrin isoelectric focussing (IEF) were identified, characteristic of a congenital disorder of glycosylation type I (CDG-Ia). A diagnosis of CDG-Ia was confirmed by enzyme analysis of cultured amniocytes. This is the first report of CDG-Ia diagnosed by serum analysis in a fetus. Previous reports have warned that diagnostic abnormalities do not appear in serum until several weeks after birth. The sensitivity of cordocentesis transferrin IEF is unknown but is less than 100% effective because cases have been diagnosed postnatally after normal prenatal or neonatal studies. Enzyme analysis or mutation analysis is required for diagnosis of congenital disorder of glycosylation (CDGs) regardless of whether a diagnostic transferrin pattern is identified prenatally. The analysis of a small sample of serum, from cordocentesis, performed to check for fetal anemia, simplified the investigation, diagnosis, and genetic counselling of a case of non-immune hydrops detected at 27 weeks' gestation. This might be a useful test for other cases in these circumstances, as fetal blood is usually collected to check for anemia. Copyright © 2006 John Wiley & Sons, Ltd.     

A Multiple Lines of Evidence Framework to Evaluate Intrinsic Biodegradation of 1,4‐Dioxane

Development of a multiple lines of evidence (MLOE) framework to evaluate the intrinsic biodegradation potential of 1,4‐dioxane is vital to implementing management strategies at groundwater sites impacted by 1,4‐dioxane. A comprehensive MLOE approach was formed to provide significant evidence of natural degradation of 1,4‐dioxane comingled with tetrahydrofuran (THF) within a large, diffuse plume. State‐of‐the art molecular biological analyses and compound‐specific isotope analysis (CSIA) were employed to support more traditional approaches for data analysis (concentration trend analyses, spatial distribution, temporal changes, geochemical biodegradation attenuation indicators, plume mass estimates, and fate and transport modeling). The molecular analyses demonstrated that microorganisms capable of both metabolic and cometabolic degradation of 1,4‐dioxane were present throughout the groundwater plume, whereas the CSIA data provided supporting evidence of biodegradation. 1,4‐Dioxane biomarkers were present and abundant throughout the 1,4‐dioxane plume, and our biomarkers tracked the plume with reasonable accuracy. Evidence also suggests that THF‐driven cometabolic biodegradation as well as catabolic 1,4‐dioxane biodegradation were active at this site. These data supplemented the traditional lines of evidence approaches, which demonstrated that 1,4‐dioxane attenuation was occurring across the groundwater plume and that nondestructive physical processes alone did not account for the observed 1,4‐dioxane attenuation. This MLOE framework combining new and traditional analyses demonstrates that this site has a significant capacity for intrinsic biodegradation of 1,4‐dioxane. ©2016 Wiley Periodicals, Inc.     

Delays in DUI blood testing: Impact on cannabis DUI assessments

Objective: This study examined the time from law enforcement dispatch to the first blood draw in cases of driving under the influence (DUI) vehicular homicide and a subset of DUI vehicular assault cases in Colorado in 2012. Laboratory toxicology results were also examined to understand the implications of delays in blood draws in cases of driving while under the influence of marijuana's delta-9-tetrahydrocannabinol (THC).

Methods: Colorado court records were reviewed and information regarding charges, presence of alcohol and/or drugs, time of law enforcement contact and blood draw, crash location, and other contextual factors were identified. The distributions of first blood draw times were studied by charge and by responding law enforcement agency. Toxicology data from a different cohort of DUI traffic arrests in Colorado and Washington were examined to determine the proportion of blood tests for THC that were above specified legal limits in those states.

Results: The average time from law enforcement dispatch to blood draw in cases of vehicular homicide and vehicular assault was 2.32 h (SD ± 1.31 h), with a range of 0.83 to 8.0 h and a median of 2.0 h. Data from DUI traffic arrests found that between 42 and 70% of all cannabinoid-positive traffic arrests tested below 5 ng/ml THC in blood, which is the legal limit in Colorado and Washington.

Conclusion: Given the current delays to blood testing in cases of arrests for vehicular homicide and vehicular assault in Colorado, many blood tests are unlikely to confirm that drivers who are impaired from smoking marijuana have THC levels above established legal limits.     

Detecting pigments from colourful eggshells of extinct birds

The known chemical basis of diverse avian eggshell coloration is generated by the same two classes of tetrapyrrole pigments in most living birds. We aimed to extend the evolutionary scope of these patterns by detecting pigments from extinct birds’ eggs. In our samples biliverdin was successfully extracted from subfossil shell fragments of the blue-green egg-laying upland moa Megalapteryx didinus, while protoporphyrin was extracted from the beige eggs of two other extinct moa species. Our data on pigment detection from eggshells of other extant paleognath birds, together with published information on other modern lineages, confirm tetrapyrroles as ubiquitous and conserved pigments contributing to diverse eggshell colours throughout avian evolution.     

Riparian plant material inputs to the Murray River, Australia: composition, reactivity, and role of nutrients

By changing riparian plants from Eucalypts to pasture and exotic deciduous trees, modern development has altered the type of carbon assimilated by Australian rivers. To investigate influences of plant litter substrates on biochemical oxygen demand, plant materials entering the Murray River were analyzed for their composition and mineralization potential. Plant materials were distinguished compositionally by two principal components, structural carbon and macronutrients, as: (i) Eucalyptus leaves, (ii) Eucalyptus bark and Casuarina cunninghamiana seed cone, (iii) grasses, (iv) macrophytes, (v) aquatic herbs, (vi) non-eucalypt leaf (Salix, Casuarina, Acacia). Ratios of C/P (1879-14524) and C/N (65-267) were relatively high in Eucalyptus bark, while mean N/P (7-60) ratios were similar among plant materials. Terrestrial weathering increased C/P and C/N ratios, while N/P ratios remained similar, due to greater loss of N and P relative to C. Aerobic decay experiments showed that nutrient supplementation accelerated decay of all organic substrates, except for grasses that decayed efficiently without supplementation. Aquatic herbs also had substantial carbon availability, macrophytes and non-eucalypt leaves had intermediate carbon availability, while eucalypt leaf and bark had intermediate to low carbon availabilities. Because biochemical oxygen demand varies with organic substrates sampled from the Murray River, and also with soluble nutrient availability, it is plausible that that modern changes to riverine plant communities and land use have influenced the biogeochemistry of this river toward faster, and more complete, processing of allochthonous carbon.     

Prenatal findings in generalized amyoplasia

Amyoplasia is a rare, sporadic condition characterized by different degrees of maldevelopment of the skeletal muscles, which are replaced by fibrous and fatty tissue. In this report, we present a case of generalized amyoplasia presenting at 19 weeks' gestation. The most striking finding was the absence of fetal movements, resulting in severe multiple congenital contractures, hydrops, and polyhydramnios. At autopsy, histological examination of the skeletal muscle showed small groups of poorly developed fibres within areas of fat. This report suggests that generalized amyoplasia could be a common cause of severe forms of multiple congenital contractures, but is probably underdiagnosed at post-mortem because of inadequate examination of muscles. Definitive diagnosis is important in determining the risks of recurrence in these cases.     

Role of Hydrophilic and Hydrophobic Interactions in Structure Development of Zein Films

Zein has been studied for its potential as a biobased polymeric material. Due to the fact that films made exclusively from zein are brittle, composites of zein and oleic acid were prepared in our lab and formed into flexible films. Film properties were believed related to their structure. X-ray scattering measurements on zein films suggested the formation of layers along the plane of the film. Oleic acid seemed to play an important role in layer formation. However, X-ray measurements could not yield information on the nature of the interface between oleic acid and zein. Surface plasmon resonance (SPR) was used to further investigate interaction between zein and oleic acid. Dynamic adsorption of zein from alcoholic solutions onto hydrophilic and hydrophobic surfaces generated by self-assembled monolayers of 11-mercaptoundecanoic acid or 1-octanethiol was monitored by SPR. It was observed that zein had a greater affinity for hydrophilic than for hydrophobic surfaces under the prevalent experimental conditions. A mechanism for structure development of zein-oleate films was proposed based on these results and previous X-ray measurements. It is suggested that the structure development involves hydrophilic adsorption of fatty acids onto the zein surface followed by hydrophobic associations leading to a layered film structure organization.     

CONTAMINANT LEVELS IN PRECIPITATION AND URBAN SURFACE RUNOFF1

ABSTRACT: Precipitation and resultant runoff were sampled for a series of storm events over the period of one year. The test site was the parking lot of a large suburban shopping mall in the Syracuse, New York, area. Both precipitation and runoff were tested for lead, zinc, copper, cadmium, and petroleum hydrocarbons: substantial amounts were detected in each. No correlation was found between precipitation contaminant concentration and the length of the antecedent dry period. A weak, but apparently inverse relationship was noticed between concentration and amount of precipitation. Poor correlations were obtained between runoff contaminant concentration and the antecedent dry period. The variability attributable to different precipitation volumes was removed by converting to a unit-area basis. The variability attributable to precipitation contaminant load was removed by subtraction. The resultant value, dryfall accumulation, then correlated well with the length of the antecedent dry period. Metal ions were found in both precipitation and runoff and were hypothesized to come from atmospheric fallout as a result of distant emissions and from very localized sources, primarily vehicle traffic on the parking facility. Petroleum residues were believed to be the sole result of automobile losses, since none could be detected in precipitation samples.     

A mixture of polychlorinated dibenzo-p-dioxins (PCDDs), dibenzofurans (PCDFs), and non-ortho polychlorinated biphenyls (PCBs) changed the lipid content of pregnant Long Evans rats

Pregnant Long Evans rats received 1.0 μg/kg of dioxin toxic equivalents (TEQ) by oral gavage on the 15th gestational day (GD 15), using a dosing mixture that contained two polychlorinated dioxins, four polychlorinated furans and three non-ortho polychlorinated biphenyls (PCBs). Rats were sacrificed on GD 16, GD 21 and postnatal day 4 (PND 4). The lipid content of fetus, pup, placenta and maternal liver, serum and adipose tissue were determined. Treated GD 16 and GD 21 fetuses had identical lipid content to the control group, yet the lipid content of treated pups on PND 4 was 32% higher than that of the control group. On the other hand, the lipid content of placenta, liver, and serum from the treated dams was 44–50%, 24%, and 38% lower than that of the control group, respectively. Thus, a low-dose mixture of dioxin-like compounds can cause changes in lipid content. The lipid content of offspring was not affected until they were exposed via lactation.