Prenatal diagnosis of abdominal cystic hygroma

We present a case of fetal abdominal cystic hygroma that presented at 19 weeks of gestation. Ultrasonographic evaluation of the fetus revealed soft tissue enlargement of the left leg and a retroperitoneal mass in the left pelvis and abdomen. This represents the first reported case of prenatal diagnosis of abdominal cystic hygroma.     

Antenatal diagnosis of a de novo paracentric inversion of chromosome 11

A de novo paracentric inversion of chromosome 11 identified through antenatal diagnosis is described along with long-term follow-up information on the child and discussion of reported experiences with de novo inversions.     

Activity of biotin-dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosis

We have documented the presence of five mitochondrial enzymes in samples of chorionic villus tissue and measured the levels of activity. Three of the enzymes catalyse biotindependent reactions. These are propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase and pyruvate carboxylase. the other enzymes. 4-aminobutyric acid aminotransferase and succinic semialdehyde dehydrogenase, are involved inthe degradation of the central inhibitory neurotransmitter GABA. Distinct diseases in whichthere is deficiency of each of these enzymes have been documented in man. Significant levels of activity were observed for all five enzymes in chorionic villus tissue. This methodology should permit early prenatal diagnosis of deficiencies of these enzymes by chorionic villus biopsy in the first trimester.     

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.     

Oil/Suspended Particulate Material Interactions and Sedimentation

The interactions of physically dispersed oil droplets with suspended particulate material (SPM) can be important for the transport of bulk quantities of spilled crude oil and polycyclic aromatic hydrocarbons (PAH) to subtidal sediments. The literature regarding oil/SPM interactions is reviewed, and results from whole-oil droplet/SPM interaction kinetics and pure-component (Prudhoe Bay crude oil distillate cut) equilibrium partitioning experiments are presented. The effects of oil type, SPM characteristics, and salinity on the interaction rates are examined, and the importance of whole-oil droplet/SPM interactions on particle agglomeration and settling behavior are discussed. Whole-oil droplet/SPM interactions are retarded as oil droplet dispersion into the water column is inhibited by oil viscosity increases due to evaporation weathering and water-in-oil emulsification. Compared to whole oil droplet/SPM interactions, dissolved-component/SPM adsorption is not as significant for transport of individual components to sediments. The information presented in this paper can be used to augment computer-based models designed to predict oil-spill trajectories, oil-weathering behavior, and spilled oil impacts to the marine environment.     

Impoundment Productivity in the Prudhoe Bay Oil Field, Alaska: Implications for Waterbirds

a ), and nutrient availability (phosphorus and nitrogen). High variability in these limnological characteristics, particularly among impoundments, obscured potential differences between impoundments and ponds. No significant differences were found in chlorophyll or nutrient concentrations, and in only two cases were there differences in invertebrate production: gastropods were significantly more abundant in impoundments than in ponds in June, and trichopterans were significantly more abundant in impoundments than in ponds in July. For comparisons within impoundments and ponds, there were significant differences in invertebrate abundance between habitats and between wetland types. For example, plecopterans, trichopterans, and gastropods (all taxa combined) were consistently more abundant in shallow–Arctophila impoundments and ponds than in shallow–Carex impoundments and ponds. Thus, ponds and impoundments may differ significantly in invertebrate production, but we lack information on the amount of different habitat types (i.e., center versus emergent vegetation, Carex versus Arctophila) used by these taxa within each water body type. It is a reasonable speculation, based on results of this study, that impoundments and ponds may have similar value as feeding habitat for invertebrate-eating waterbirds. Thus the presence of impoundments may be consistent with waterbird management goals on the Arctic Coastal Plain.     

ENHANCING FECAL COLIFORM TOTAL MAXIMUM DAILY LOAD MODELS THROUGH BACTERIAL SOURCE TRACKING1

ABSTRACT: Surface water impairment by fecal coliform bacteria is a water quality issue of national scope and importance. In Virginia, more than 400 stream and river segments are on the Commonwealth's 2002 303(d) list because of fecal coliform impairment. Total maximum daily loads (TMDLs) will be developed for most of these listed streams and rivers. Information regarding the major fecal coliform sources that impair surface water quality would enhance the development of effective watershed models and improve TMDLs. Bacterial source tracking (BST) is a recently developed technology for identifying the sources of fecal coliform bacteria and it may be helpful in generating improved TMDLs. Bacterial source tracking was performed, watershed models were developed, and TMDLs were prepared for three streams (Accotink Creek, Christians Creek, and Blacks Run) on Virginia's 303(d) list of impaired waters. Quality assurance of the BST work suggests that these data adequately describe the bacteria sources that are impairing these streams. Initial comparison of simulated bacterial sources with the observed BST data indicated that the fecal coliform sources were represented inaccurately in the initial model simulation. Revised model simulations (based on BST data) appeared to provide a better representation of the sources of fecal coliform bacteria in these three streams. The coupled approach of incorporating BST data into the fecal coliform transport model appears to reduce model uncertainty and should result in an improved TMDL.