Prenatal ultrasound diagnosis of Toriello–Carey syndrome

Toriello–Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome based on the detection of agenesis of the corpus callosum and spongious cardiomyopathy in a 22-week-old fetus of a couple with positive family history. The first sib of the couple was diagnosed with Toriello–Carey syndrome at 1 year of age, and had, in addition to the typical facial anomalies not detectable by ultrasound, agenesis of the corpus callosum and the same heart lesion (spongious cardiomyopathy). This report demonstrates that prenatal diagnosis of Toriello–Carey syndrome is feasible in the second trimester of pregnancy. Copyright © 2002 John Wiley & Sons, Ltd.     

Blowing Smoke in Yellowstone: Air Quality Impacts of Oversnow Motorized Recreation in the Park

Snowmobile use in Yellowstone National Park has been shown to impact air quality, with implications for the safety and welfare of Park staff and other Park resource values. Localized impacts have been documented at several high-use sites in the Park, but the broader spatial variability of snowmobile emissions and air quality was not understood. Measurements of 87 volatile organic compounds (VOCs) were made for ambient air sampled across the Park and West Yellowstone, Montana, during 2 days of the 2002–2003 winter use season, 1 year before the implementation of a new snowmobile policy. The data were compared with similar data from pristine West Coast sites at similar latitudes. Backward trajectories of local air masses, alkyl nitrate-parent alkane ratios, and atmospheric soundings were used to identify the VOC sources and assess their impact. Different oversnow vehicle types used in the Park were sampled to determine their relative influence on air mass pollutant composition. VOCs were of local origin and demonstrated strong spatiotemporal variability that is primarily influenced by levels of snowmobile traffic on given road segments at different times of day. High levels of snowmobile traffic in and around West Yellowstone produced consistently high levels of benzene, toluene, and carbon monoxide.     

Vegetable and synthetic tannins induce hormesis/toxicity in sea urchin early development and in algal growth

Mimosa tannin and phenol-based synthetic tannin (syntan) were tested for toxicity to sea urchin (Paracentrotus lividus and Sphaerechinus granularis) early development and to marine algal growth (Dunaliella tertiolecta). Sea urchin embryogenesis was affected by vegetable tannin and syntan water extracts (VTWE and STWE) at levels >or=1mg/L. Developmental defects were significantly decreased at VTWE and STWE levels of 0.1 and 0.3mg/L when control cultures displayed suboptimal quality, i.e. <70% "viable" (normal or retarded) larvae. Fertilization success of sea urchin sperm was increased up to 0.3 mg/L STWE or VTWE, then was inhibited by increasing tannin levels (1-30 mg/L). Offspring abnormalities, following sperm exposure to VTWE or STWE, showed the same shift from hormesis to toxicity. Cell growth bioassays in D. tertiolecta exposed to VTWE or STWE (0.1-30 mg/L) showed non-linear concentration-related toxicity. Novel criteria are suggested in defining control quality that should reveal hormetic effects.     

Nonideal transport of contaminants in heterogeneous porous media: 10. Impact of co-solutes on sorption by porous media with low organic-carbon contents

The impact of co-solutes on sorption of tetrachloroethene (PCE) by two porous media with low organic-carbon contents was examined by conducting batch experiments. The two media (Borden and Eustis) have similar physical properties, but significantly different organic-carbon (OC) contents. Sorption of PCE was nonlinear for both media, and well-described by the Freundlich equation. For the Borden aquifer material (OC = 0.03%), the isotherms measured with a suite of co-solutes present (1,2-dichlorobenzene, bromoform, carbon tetrachloride, and hexachloroethane) were identical to the isotherms measured for PCE alone. These results indicate that there was no measurable impact of the co-solutes on PCE sorption for this system. In contrast to the Borden results, there was a measurable reduction in sorption of PCE by the Eustis soil (OC = 0.38%) in the presence of the co-solutes. The organic-carbon fractions of both media contain hard-carbon components, which have been associated with the manifestation of nonideal sorption phenomena. The disparity in results observed for the two media may relate to relative differences in the magnitude and geochemical nature of these hard-carbon components.     

Combined molecular mechanics, molecular dynamics and quantum mechanical study of (+)-multifidene structure and conformation

Molecular mechanics, molecular dynamics and quantum mechanical tools have been used to explore the conformational space of (+)(3S,4S)-multifidene bioactive compounds. All the computations have been performed in the absence and presence of the solvent, simulated by the explicit introduction of a number of water molecules or by the polarized continuum model (PCM). Three conformational minima, both in vacuo and in water (simulated by PCM tool), have been confirmed at ab initio level of theory (B3LYP and MP2). All minima lie in a very narrow range of energy, and the interconversion between them is possible with a small amount of energy expense.     

Prenatal ultrasound diagnosis of frontonasal dysplasia

We report a case of prenatal ultrasound diagnosis of frontonasal dysplasia. This represents a very rare disorder involving the face (hypertelorism, median cleft lip, absence of the nasal tip) and often the central nervous system (CNS) (cranium bifidum occultum, ethmoidal cephalocele, agenesis of the corpus callosum). Although several of the typical anomalies are diagnosable by ultrasound in utero (hypertelorism, median cleft lip, anterior cephalocele), very few cases have been reported prenatally, the present being only the third. In the present case, hemimegalencephaly is first reported among the anomalies possibly associated with frontonasal dysplasia. The diagnosis was made at 22 weeks' gestation and was confirmed by necropsy following termination of pregnancy. Copyright © 2002 John Wiley & Sons, Ltd.     

Examination of factors associated with use rates after transition from a universal to partial motorcycle helmet use law

Objectives: Motorcycle riders account for a disproportionately high number of traffic injuries and fatalities compared to occupants of other vehicle types. Though research has demonstrated the benefits of helmet use in preventing serious and fatal injuries in the event of a crash, helmet use has remained relatively stable in the United States, where the most recent national estimates show a 64% use rate. Use rates have been markedly lower among those states that do not have a universal helmet law for all riders. In 2012, the state of Michigan repealed its longstanding mandatory helmet use law. In order to gain insights as to the effects of this legislative change, a study was conducted to examine short-term changes in helmet use and identify factors associated with use rates.

Methods: A statewide direct observation survey was conducted 1 year after the transition from a universal helmet law to a partial helmet law. A random parameters logistic regression model was estimated to identify motorcyclist, roadway, and environmental characteristics associated with helmet use. This modeling framework accounts for both intravehicle correlation (between riders and passengers on the same motorcycle) as well as unobserved heterogeneity across riders due to important unobserved factors.

Results: Helmet use was shown to vary across demographic segments of the motorcyclist population. Use rates were higher among Caucasian riders, as well as among those age 60 and above. No significant difference was observed between male and female riders. Use was also found to vary geographically, temporally, and with respect to various environmental characteristics. Geographically, helmet use rates tended to be correlated with historical restraint use trends, which may be reflective of riding environment and general differences in the riding population. To this end, rates were also highly variable based upon the type of motorcycle and whether the motorcyclist was wearing high-visibility gear.

Conclusions: The study results demonstrate the short-term reduction in helmet use following transition from a universal to partial motorcycle helmet law. The reduction in use is somewhat less pronounced than has been experienced in other states, which may be reflective of general differences among Michigan motorcyclists because the state has also generally exhibited higher use rates of seat belts and other forms of occupant protection. The study results also highlight potential target areas for subsequent education and public awareness initiatives aimed at increasing helmet use.     

Determination of particulate polycyclic aromatic hydrocarbons in ambient air by gas chromatography-mass spectrometry after molecularly imprinted polymer extraction

A solid phase extraction procedure (SPE) is described for the quantitative analysis of polycyclic aromatic hydrocarbons (PAHs) in atmospheric particulate matter (PM), as ubiquitous environmental pollutants routinely measured in air quality monitoring. A SPE cartridge was used based on a molecular imprinted polymer (MIP-SPE) properly tailored for selective retention of PAHs with 4 and more benzene fused rings. The performance of the clean-up procedure was evaluated with the specific concern of selective purification towards saturated hydrocarbons, which are the PM components mostly interfering GC analysis of target PAHs. Under optimized operative conditions, the MIP-SPE provided analyte recovery close to 95% for heavier PAHs, from benzo(α)pyrene to benzo(ghi)perylene, and close to 90% for four benzene rings PAHs, with good reproducibility (RSDs: 2.5%-5.9%). Otherwise, C₁₇-C₃₂ n-alkanes were nearly completely removed. The proposed method was critically compared with Solid Phase Micro Extraction (SPME) using a polyacrylate fiber. Both methods were successfully applied to the analysis of ambient PM_2.5 samples collected at an urban polluted site. Between the two procedures, the MIP-SPE provided the highest recovery (R% ≥ 93%) for PAHs with 5 and more benzene rings, but lower for lighter PAHs. In contrast, SPME showed a mean acceptable R% value (∼ 80%) for all the investigated PAHs, except for the heaviest PAHs in the most polluted samples (R%: 110%-138%), suggesting an incomplete purification from the interfering n-hydrocarbons.     

Genetic amniocentesis in multiple gestations

Thirty-one genetic amniocenteses involving multiple gestations were performed in the genetics unit between 1976 and 1982. Three sets of triplets were included. Precise locations of the sacs were determined using real-time ultrasonography and successful sampling of all sacs was accomplished. Spontaneous abortions occurred in two normal twins and one normal triplet gestation. Two therapeutic abortions were performed for fetal abnormalities. Two cases of discordance for trisomy 21 (one twin and one triplet) were allowed to continue; the twin case terminated at 25 weeks' gestation with neonatal deaths and the triplets are alive and well.     

Population structure and genetic variation in two tropical sea anemones (Cnidaria,Actinidae) with different reproductive strategies

Genetic variation and population structure of two tropical sea anemones, Bunodosoma caissarum Correa and Actinia bermudensis McMurrich were related to their different dispersal capabilities and reproductive modes. B. caissarum reproduces sexually and has a long-lived planktotrophic larva; A. bermudensis can reproduce both sexually and asexually, supposedly with short-range dispersal. Both species were sampled along 1150 km of Brazilian coastline between 1990 and 1991 and analyzed by horizontal starch gel electrophoresis for 16 enzyme loci in B. caissarum and 19 in A. bermudensis. B. caissarum had higher levels of heterozygosity (H=0.35) and lower levels of population structuring (F _ST=0.042) than A. bermudensis (H=0.17; F _ST=0.262). At one locality large genetic differences between two sympatric colour morphs of A. bermudensis provide evidence of possible cryptic speciation. Overall levels of genetic variation and heterozygosity in the two species are compatible with their known modes of reproduction.