Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta: A case of autosomal dominant transmission

A 21 -year-old woman with progressively deforming or type III osteogenesis imperfecta (OI) presented for prenatal counselling and diagnosis at 10 weeks' gestation. Family history was non-contributory. At 14.8 weeks' gestation, ultrasonographic examination revealed fetal skeletal hypomineralization, easily compressible fetal cranium, and thickened long bones, indicating that the fetus was also affected. Confirmation of the prenatal diagnosis of OI type III was made following a Caesarean section birth of a male infant with multiple skeletal deformities and blue sclerae implying, in this case, autosomal dominant inheritance.     

Environmental and economic impacts of water scarcity and market reform on the Mooki catchment

Over-allocation of irrigation water has led to widespread environmental degradation in the Murray-Darling Basin (MDB) in Australia, prompting discussions of the water efficiency performance of irrigated industries. There is increasing pressure for irrigators to adopt water efficient practices in line with ecologically sustainable principles, especially with current drought conditions. However, there is great uncertainty surrounding the available practices to improve irrigation efficiency from both ecological and economic standpoints. This paper examines the economic and environmental impact of several possible water efficient practices and government policies, using an interdisciplinary approach combining biophysical modelling and economic modelling. This is done for the case-study of the Mooki catchment in the MDB, located in northern New South Wales, Australia.     

Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus–Merzbacher disease

A submicroscopic genomic duplication in Xq22.2 that contains the entire proteolipid protein 1 gene (PLP1) is responsible for the majority of Pelizaeus–Merzbacher disease (PMD) patients. We previously developed an interphase FISH assay to screen for PLP1 duplications in PMD patients using peripheral blood and lymphoblastoid cell lines. This assay has been utilized as a clinical diagnostic test in our cytogenetics laboratory. To expand usage of the interphase FISH assay to prenatal diagnosis of PLP1 duplications, we examined three PMD families with PLP1 duplications utilizing aminiotic fluid samples. In two families the FISH assay revealed fetuses with PLP1 duplications, whereas the other fetus showed a normal copy number of PLP1. Haplotype analyses, as well as an additional FISH analysis using postnatal blood samples, confirmed the results of the prenatal analyses. Our study demonstrates utility of the interphase FISH assay in the prenatal diagnosis of PLP1 duplications in PMD. Copyright © 2001 John Wiley & Sons, Ltd.     

A SURVEY OF THE MICROBIAL QUALITY OF RECYCLED HOUSEHOLD GRAYWATER1

ABSTRACT: In arid regions where populations are expanding and water is scarce, people are searching for ways to conserve and reuse water. One way homeowners can conserve water is by recycling graywater‐wastewater from household sinks, showers, bathtubs, and washing machines. Graywater is used mostly for landscape irrigation. Since graywater is wastewater, reusing it raises concerns about disease transmission, either by contact with the water or the irrigated soil. The purpose of this study was to assess how factors such as number and age of household occupants, types of graywater storage, and sources of graywater used affect the microbial quality of graywater and soil irrigated with graywater. Samples were collected over twelve months from eleven Tucson, Arizona households recycling graywater. Samples of graywater, soil irrigated by graywater, and soil irrigated by potable water were collected. We found that graywater irrigation causes a statistically significant increase in levels of fecal coliforms in soil when compared to soil irrigated with potable water. Graywater from the kitchen sink significantly increases levels of these bacteria in water and soil. Children also cause a statistically significant increase in fecal coliform levels in graywater and soil, possibly introducing a small amount of additional risk in graywater reuse.