Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family

Fetal skin biopsy at 20 weeks' gestation in a woman at risk for a child with the lethal skin-blistering disorder junctional epidermolysis bullosa (Herlitz) confirmed an affected fetus. Genomic DNA from the aborted fetus was examined for mutations in laminin 5, a macromolecule involved in adhesion at the dermal-epidermal junction, and a candidate protein in this condition. Polymerase chain reaction (PCR) amplification of exon 10 and parts of the flanking introns of the gene encoding the β3 chain of laminin 5 (LAMB3) and subsequent analysis by agarose gel electrophoresis showed a more slowly migrating band in the affected fetus compared with the normal control. Nucleotide sequencing of the abnormal PCR product revealed a homozygous 77 bp duplication within the exon, resulting in a premature termination codon 250 bp downstream from the 3′ end of the duplication. Maternal DNA was heterozygous for the mutant and wild-type alleles. These findings illustrate the genetic basis of the skin disease in this case and also offer the prospects of a simple, rapid, and reliable first-trimester DNA-based prenatal, or even preimplantation, diagnostic test for future pregnancies in this family.     

Nitrogen and phosphorus attenuation within the stream network of a coastal, agricultural watershed

Streams alter the concentration of nutrients they transport and thereby influence nutrient loading to estuaries downstream; however, the relationship between in-stream uptake, discharge variability, and subsequent nutrient export is poorly understood. In this study, in-stream N and P uptake were examined in the stream network draining a row-crop agricultural operation in coastal North Carolina. The effect of in-stream nutrient uptake on estuarine loading was examined using continuous measurements of watershed nutrient export. From August to December 2003, 52 and 83% of the NH4+ and PO4(3-) loads were exported during storms while concurrent storm flow volume was 34% of the total. Whole-ecosystem mass transfer velocities (Vf) of NH4+ and PO4(3-), measured using short-term additions of inorganic nutrients, ranged from 0.1 to 25 mm min(-1). Using a mass balance approach, this in-stream uptake was found to attenuate 65 to 98% of the NH4+ flux and 78 to 98% of the PO4(3-) flux in small, first-order drainage ditches. For the larger channel downstream, an empirical model based on Vf and discharge was developed to estimate the percentage of the nutrient load retained in-stream. The model predicted that all of the upstream NH4+ and PO4(3-) load was retained during base flow, while 65 and 37% of the NH4+ and PO4(3-) load was retained during storms. Remineralization from the streambed (vs. terrestrial sources) was the apparent source of NH4+ and PO4(3-) to the estuary during base flow. In-stream uptake reduced the dissolved inorganic N to dissolved inorganic P ratio of water exported to the N-limited estuary, thus limiting the potential for estuarine phytoplankton growth.     

Near-field loading dynamics of total phosphorus and short-term water quality variations at a rainbow trout cage farm in Lake Huron

Aquatic total phosphorus (Tot-P) is measured at fish-cages in Lake Huron for environmental regulatory compliance. An improved understanding of how Tot-P is manifested in the near-field (相似文献   

Evaluating the BANCS Streambank Erosion Framework on the Northern Gulf of Mexico Coastal Plain

The Bank Assessment of Nonpoint source Consequences of Sediment (BANCS) framework allows river scientists to predict annual sediment yield from eroding streambanks within a hydrophysiographic region. BANCS involves field data collection and the calibration of an empirical model incorporating a bank erodibility hazard index (BEHI) and near‐bank shear stress (NBS) estimate. Here we evaluate the applicability of BANCS to the northern Gulf of Mexico coastal plain, a region that has not been previously studied in this context. Erosion rates averaged over two years expressed the highest variability of any existing BANCS study. As a result, four standard BANCS models did not yield statistically significant correlations to measured erosion rates. Modifications to two widely used NBS estimates improved their correlations (r² = 0.31 and r² = 0.33), but further grouping of the data by BEHI weakened these correlations. The high variability in measured erosion rates is partly due to the regional hydrologic and climatic characteristics of the Gulf coastal plains, which include large, infrequent precipitation events. Other sources of variability include variations in bank vegetation and the complex hydro‐ and morphodynamics of meandering, sand bed channels. We discuss directions for future research in developing a streambank erosion model for this and similar regions.     

Evidence for multiple recruitment-cohorts of Puget Sound Dungeness crab,Cancer magister

While sampling intertidally in Puget Sound, Washington, USA, for juvenile Dungeness crab (Cancer magister) in 1984, we found evidence of two distinct cohorts of the same year-class based on sizes of first-instar juveniles (J1) and the spatial/temporal patterns of settlement. In 1988, three distinct cohorts were observed to settle in Puget Sound and its approaches. Settlement of one cohort occurred during May in the Strait of Juan de Fuca and in those areas of Puget Sound closest to the Strait. J1 individuals of this cohort were large (x=7.4 mm carapace width, CW) and comparable in both size and timing of settlement to populations along the Washington coast (e.g. Grays Harbor and Willapa Bay). Initial settlement density of the May cohort was as high as 215 crabs/m² in intertidal eelgrass beds along the Strait of Juan de Fuca and decreased to <2 crabs/m² within Puget Sound and the Strait of Georgia. A second cohort apparently originated in Hood Canal (a deep inland fjord), its size upon settlement in June was significantly smaller (J1 x= 5.3 mm CW) than the May cohort, and it was limited to Hood Canal and areas of Puget Sound close to the mouth of Hood Canal. A third cohort, which settled in late July and August, was the smallest of the three cohorts (J1 x= 4.8 mm CW), and was widely distributed around Puget Sound from Seattle in the south to the USA/Canadian border in the north. We hypothesize that most juvenile recruitment in Hood Canal and Puget Sound originates from parental stocks endemic to their respective basins (Hood Canal and Puget Sound cohorts), but that, on occasion, oceanographic conditions allow substantial influx of Pacific Ocean Dungeness crab larvae (oceanic cohort) through the Strait of Juan de Fuca into Puget Sound. Tracking of spatial/temporal settlement patterns and comparison of J1 sizes proved useful for estimating the probable sources and dispersion of Dungeness crab larvae. Differences in size and time of settlement between various larval cohorts of C. magister may prove useful as biomarkers for tracing circulation patterns within and between inland waters of Washington and the Pacific Ocean. Causes of smaller size and later settlement of the Puget Sound cohort relative to oceanic conspecifics of the same year-class are discussed.Contribution No. 856, School of Fisheries, University of Washington, Seattle     

INEQUITIES FOR SMALL FOOD PROCESSING PLANTS RESULTING FROM LIQUID WASTE TREATMENT REGULATIONS1

ABSTRACT: The cost of the liquid wast treatment measures required to meet federal as well as typical state and local regulations was examined for dairy processing plants of various sizes. Federal effluent standards were found to produce higher estimated capital costs per unit of raw material for smaller plants, even with relaxed requirements for smaller plants. State regulations limiting the effluent BOD₅- concentration were also found to result in inequitable costs for smaller processors. These inequities result from economies of scale and not such factors as level of process technology employed or amount of waste produced per unit of raw material. In contrast, applying an example sewer surcharge formula did not produce inequities from economies of scale.     

Linking movement, diving, and habitat to foraging success in a large marine predator

Establishing where and when predators forage is essential to understanding trophic interactions, yet foraging behavior remains poorly understood in large marine carnivores. We investigated the factors leading to foraging success in gray seals (Halichoerus grypus) in the Northwest Atlantic in the first study to use simultaneous deployments of satellite transmitters, time depth recorders, and stomach-temperature loggers on a free-ranging marine mammal. Thirty-two seals were each fitted with the three types of instrumentation; however, complete records from all three instruments were obtained from only 13 individuals, underscoring the difficulty of such a multi-instrument approach. Our goal was to determine the characteristics of diving, habitat, and movement that predict feeding. We linked diving behavior to foraging success at two temporal scales: trips (days) and bouts (hours) to test models of optimal diving, which indicate that feeding can be predicted by time spent at the bottom of a dive. Using an information-theoretic approach, a Generalized Linear Mixed Model with trip duration and accumulated bottom time per day best explained the number of feeding events per trip, whereas the best predictor of the number of feeding events per bout was accumulated bottom time. We then tested whether characteristics of movement were predictive of feeding. Significant predictors of the number of feeding events per trip were angular variance (i.e., path tortuosity) and distance traveled per day. Finally, we integrated measures of diving, movement, and habitat at four temporal scales to determine overall predictors of feeding. At the 3-h scale, mean bottom time and distance traveled were the most important predictors of feeding frequency, whereas at the 6-h and 24-h time scales, distance traveled alone was most important. Bathymetry was the most significant predictor of feeding at the 12-h interval, with feeding more likely to occur at deeper depths. Our findings indicate that several factors predict feeding in gray seals, but predictor variables differ across temporal scales such that environmental variation becomes important at some scales and not others. Overall, our results illustrate the value of simultaneously recording and integrating multiple types of information to better understand the circumstances leading to foraging success.