Design of Road Cut Adjacent to Existing Structure

Interchange improvements within an urban environment required the deepening of a hillside cut. Design restraints required as deep a cut as possible without disturbing a water tower located at the crest of the slope or interfering with a shopping center at the toe. The water tower, constructed in 1933 with a steel tank encased in a concrete and brick structure, was founded on shallow spread footings. Foundation soils were silts and silty sands with seams of silty clay. The design investigation involved hydrogeologic studies, SPT borings, undisturbed sampling, laboratory testing, and stability analyses. Laboratory studies involved routine and unusual testing procedures to evaluate deformation potential upon drying. Results of the investigation allowed the deepening of the cut some 20 feet using conventional construction techniques. This paper details the geotechnical investigation, laboratory testing, analysis procedure, construction monitoring, and project results

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718 patients with congenital heart disease and a search in GeneMatcher, we identified 30 patients from 21 unrelated families of different ancestries with biallelic phospholipase D1 (PLD1) variants who presented predominantly with congenital cardiac valve defects. We also associated recessive PLD1 variants with isolated neonatal cardiomyopathy. Furthermore, we established that p.1668F is a founder variant among Ashkenazi Jews (allele frequency of -.2%) and describe the phenotypic spectrum of PLD1-associated congenital heart defects. PLD1 missense variants were overrepresented in regions of the protein critical for catalytic activity, and, correspondingly, we observed a strong reduction in enzymatic activity for most of the mutant proteins in an enzymatic assay. Finally, we demonstrate that PLD1 inhibition decreased endothelial-mesenchymal transition, an established pivotal early step in valvulogenesis. In conclusion, our study provides a more detailed understanding of disease mechanisms and phenotypic expression associated with PLD1 loss of function.Genetics of disease, diagnosis and treatmen

Prevalence of childhood eczema and food sensitization in the First Nations reserve of Natuashish, Labrador, Canada

Background: The Mushua Innu of Natuashish, Labrador, Canada seem to have a high rate of childhood eczema. Anecdotally this problem seems to be more common now than 20 years ago. There has been speculation that this could be related to food sensitization that may have arisen coincident with a move away from a traditional Innu diet. We undertook to assess the prevalence and severity of pediatric eczema in Natuashish (population 792), and investigate the level of sensitization to common food antigens. Methods: Over a three-month period we performed a population survey of all children in the community from the ages of 2–12 inclusive. The one-year prevalence of eczema was assessed using the United Kingdom Working Party’s diagnostic criteria, and graded on the Nottingham Severity Scale. All children with eczema and twice as many age/sex matched controls were offered complete blood counts, total IgE, and food specific IgE levels for egg white, cow’s milk protein and wheat. Results: One hundred and eighty two (95% of the eligible children) were assessed. Of the 182 children examined eczema was diagnosed in 30 (16.5%) - 22 females and 8 males. The majority of children with eczema (20/30) were classified as being in the moderate and severe category. Of the 22 with eczema and 40 controls who consented to venipuncture all but 3 had IgE levels above the lab's reference range. Food specific antibody assays showed that 32, 23, and 5 percent of children with eczema were sensitized to egg, milk, and wheat respectively. None of the controls were sensitized. Conclusions: The children of Natuashish, Labrador have a high rate of eczema, much of it graded as moderate or severe. IgE levels were markedly elevated in children with and without eczema, with average values at least ten-fold higher than other populations. There is no evidence of an unusual amount of sensitization to egg, milk or wheat