Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.     

Acute toxicity and sublethal behavioral effects of copper on barnacle nauplii (Balanus improvisus)

This study documents the effects of short-term (24h) sublethal copper exposures on undirected swimming activity and photobehavior of Balanus improvisus stage II nauplii. All Cu treatments were static, with temperature and salinity conditions at 20°C and 15 or 30. The 24h LC 50 estimate for Cu is 88 ppb at 15 and >200 ppb at 30. Sub-lethal Cu concentrations cause reductions in swimming speed, which decrease progressively with increasing Cu dose. At 50 ppb Cu, this was significant primarily at light intensities below the phototactic threshold. At higher Cu concentrations, significant reductions in mean linear velocity occurred at most light intensities tested. At 30, 50 and 100 ppb Cu also reduce the positive phototactic response and 150 ppb Cu causes reversal of phototaxis at optimal intensities. Photokinesis is reduced at 100 ppb Cu and disappears at 150 ppb Cu. At 15, the behavioral effects of 50 ppb Cu resemble those occurring with 150 ppb Cu at 30. Swimming speed and photobehavior show promise as sensitive behavioral indicators of copper toxicity. Additional research is required to determine if these responses apply to a broad range of pollutants and to other planktonic organisms. There is also a need to further evaluate the significance of these behavioral effects ecologically.Contribution No. 181 from the EPA Environmental Research Laboratory, Narragansett, RI 02882, USA     

Factors contributing to serious and fatal injuries in belted rear seat occupants in frontal crashes

Abstract

Objectives: Earlier research has shown that the rear row is safer for occupants in crashes than the front row, but there is evidence that improvements in front seat occupant protection in more recent vehicle model years have reduced the safety advantage of the rear seat versus the front seat. The study objective was to identify factors that contribute to serious and fatal injuries in belted rear seat occupants in frontal crashes in newer model year vehicles.

Methods: A case series review of belted rear seat occupants who were seriously injured or killed in frontal crashes was conducted. Occupants in frontal crashes were eligible for inclusion if they were 6 years old or older and belted in the rear of a 2000 or newer model year passenger vehicle within 10 model years of the crash year. Crashes were identified using the 2004–2015 National Automotive Sampling System Crashworthiness Data System (NASS-CDS) and included all eligible occupants with at least one Abbreviated Injury Scale (AIS) 3 or greater injury. Using these same inclusion criteria but split into younger (6 to 12 years) and older (55+ years) cohorts, fatal crashes were identified in the 2014–2015 Fatality Analysis Reporting System (FARS) and then local police jurisdictions were contacted for complete crash records.

Results: Detailed case series review was completed for 117 rear seat occupants: 36 with Maximum Abbreviated Injury Scale (MAIS) 3+ injuries in NASS-CDS and 81 fatalities identified in FARS. More than half of the injured and killed rear occupants were more severely injured than front seat occupants in the same crash. Serious chest injury, primarily caused by seat belt loading, was present in 22 of the injured occupants and 17 of the 37 fatalities with documented injuries. Nine injured occupants and 18 fatalities sustained serious head injury, primarily from contact with the vehicle interior or severe intrusion. For fatal cases, 12 crashes were considered unsurvivable due to a complete loss of occupant space. For cases considered survivable, intrusion was not a large contributor to fatality.

Discussion: Rear seat occupants sustained serious and fatal injuries due to belt loading in crashes in which front seat occupants survived, suggesting a discrepancy in restraint performance between the front and rear rows. Restraint strategies that reduce loading to the chest should be considered, but there may be potential tradeoffs with increased head excursion, particularly in the absence of rear seat airbags. Any new restraint designs should consider the unique needs of the rear seat environment.     

IIHS head restraint ratings and insurance injury claim rates

Objectives: The Insurance Institute for Highway Safety (IIHS) rates front seat/head restraint designs using a combination of static and dynamic measurements following RCAR-IIWPG procedures. The purpose of this study was to determine whether vehicles with better IIHS-rated seats/head restraints had lower injury risk in rear-end collisions and how the effect of better rated seats interacted with driver gender and age.

Methods: The presence of an associated insurance injury claim was determined for rear-impact crashes using 2001–2014 model year cars and SUVs. Logistic regression was used to compare injury risk for vehicles with good, acceptable, and marginal IIHS-rated seats/head restraints with poor-rated seats/head restraints. Analyses were run by gender and driver age and also by the rate of more severe injury claims.

Results: Injury rates were 11.2% lower for vehicles with seats/head restraints rated good compared to vehicles with seats/head restraints rated poor. The percentage reduction for good- versus poor-rated seats was greater for females (12.7%) than males (8.9%). Comparing good- with poor-rated seats, driver ages 15–24 had the largest reduction at 19.8%, followed by 10.7% for driver ages 45–64 and 10.4% for driver ages 25–44.

Conclusions: Seats/head restraints with better IIHS ratings are associated with lower injury rates in rear-impact collisions than seats rated poor. The reductions in injury rates were strongest for females and for young-to–middle-age drivers. The strong reductions in injury rates for these groups are encouraging given their high initial injury rates.     

Development of a field method for measuring manganese in welding fume

Workers who perform routine welding tasks are potentially exposed to fume that may contain manganese. Manganese may cause respiratory problems and is implicated in causing the occurrence of Parkinson-like symptoms. In this study, a field colorimetric method for extracting and measuring manganese in welding fume was developed. The method uses ultrasonic extraction with an acidic hydrogen peroxide solution to extract welding fume collected on polyvinyl chloride filters. Commercially available pre-packaged reagents are used to produce a colored solution, created by a reaction of manganese(ii) with 1-(2-pyridylazo)-2-naphthol. Absorbance measurements are then made using a portable spectrophotometer. The method detection limit and limit of quantification (LOQ) were 5.2 microg filter(-1) and 17 microg filter(-1), respectively, with a dynamic range up to 400 microg filter(-1). When the results are above the LOQ for the colorimetric method, the manganese masses are equivalent to those measured by the International Organization for Standardization Method 15202-2, which employs a strong acid digestion and analysis using inductively coupled plasma-optical emission spectrometry.     

Evaluation of a standardized method for determining soluble silver in workplace air samples

Several occupational exposure limits and guidelines exist for silver, but the values for each depend on the chemical form of the silver compound in question. In the past, it generally was not possible, without prior knowledge of the work process, to distinguish soluble silver from insoluble silver compounds collected in workplace air samples. Therefore, analytical results were historically reported as total silver. In this study, work was conducted to evaluate a method to differentiate between the quantities of water-soluble silver compounds and total silver collected on filters. The investigation entailed an evaluation of an International Organization for Standardization method to determine soluble silver in airborne particulate matter. The study design incorporated laboratory experiments to evaluate analytical figures of merit, such as selection of appropriate filter media and extraction solution, analytical recovery, and sample stability during storage. Polytetrafluoroethylene (PTFE) filters (2 microm, 37 mm) in opaque cassettes were either spiked with known amounts of silver nitrate or contained a known mass of solid silver nitrate. Results showed that over 90% of the silver was recovered from PTFE filters. Also, field studies were conducted in which workplace air samples were collected in two silver refineries. Some of these samples were analyzed only for soluble silver while others were sequentially extracted and analyzed, first, for soluble silver, then for total silver. The mass fractions of soluble silver, as compared to total silver, were approximately 2% or less. This investigation served to validate an international standard procedure for the determination of soluble silver in workplace air samples.     

ERI evaluation of injectates used at a dry‐cleaning site

A former dry‐cleaning site in Jackson, Tennessee, has undergone remediation to treat dense nonaqueous‐phase liquid (trichloroethene [TCE] and tetrachloroethene [PCE]) contamination in the subsurface. The dry cleaning operation closed in 1977. In 2002, a series of injections were made at the site consisting of corn syrup, vegetable oils, and Simple Green®. In 2004, approximately 200 cubic yards of contaminated soil were excavated, and the bottom of the excavation was covered with sodium lactate. In 2009, the site was characterized using proprietary electrical resistivity imaging (ERI; commercially available as Aestus GeoTrax Surveys^TM). Follow‐up confirmation soil borings targeted anomalies detected via the geophysical work. The results indicate an extremely electrically conductive (less than 1 ohm‐m) vadose zone downgradient from the injection wells, and extremely electrically resistive areas (greater than 10,000 ohm‐m) in the phreatic zone near the injection area. The sample data indicate that the electrically resistive anomalous zones contain moderate to high concentrations of undegraded dry‐cleaning compounds. Electrically conductive anomalous zones are interpreted to be areas of biological activity generated by the amendments injected into the subsurface based on the extreme conductivity values detected, the chemical composition (i.e., PCE degradates are present), and the dominant vadose‐zone location of the conductive zones. © 2012 Wiley Periodicals, Inc.