Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.     

Modeling Parent and Metabolite Fate and Transport in Subsurface Drained Fields With Directly Connected Macropores1

Abstract: Few studies exist that evaluate or apply pesticide transport models based on measured parent and metabolite concentrations in fields with subsurface drainage. Furthermore, recent research suggests pesticide transport through exceedingly efficient direct connections, which occur when macropores are hydrologically connected to subsurface drains, but this connectivity has been simulated at only one field site in Allen County, Indiana. This research evaluates the Root Zone Water Quality Model (RZWQM) in simulating the transport of a parent compound and its metabolite at two subsurface drained field sites. Previous research used one of the field sites to test the original modification of the RZWQM to simulate directly connected macropores for bromide and the parent compound, but not for the metabolite. This research will evaluate RZWQM for parent/metabolite transformation and transport at this first field site, along with evaluating the model at an additional field site to evaluate whether the parameters for direct connectivity are transferable and whether model performance is consistent for the two field sites with unique soil, hydrologic, and environmental conditions. Isoxaflutole, the active ingredient in BALANCE^® herbicide, was applied to both fields. Isoxaflutole rapidly degrades into a metabolite (RPA 202248). This research used calibrated RZWQM models for each field based on observed subsurface drain flow and/or edge of field conservative tracer concentrations in subsurface flow. The calibrated models for both field sites required a portion (approximately 2% but this fraction may require calibration) of the available water and chemical in macropore flow to be routed directly into the subsurface drains to simulate peak concentrations in edge of field subsurface drain flow shortly after chemical applications. Confirming the results from the first field site, the existing modification for directly connected macropores continually failed to predict pesticide concentrations on the recession limbs of drainage hydrographs, suggesting that the current strategy only partially accounts for direct connectivity. Thirty‐year distributions of annual mass (drainage) loss of parent and metabolite in terms of percent of isoxaflutole applied suggested annual simulated percent losses of parent and metabolite (3.04 and 1.31%) no greater in drainage than losses in runoff on nondrained fields as reported in the literature.     

Geochemical characteristics of surficial sediments in a tropical estuary, south-west India

Geochemical characteristics of surficial sediments in the Panangad region of Cochin estuary, the largest brackish-water humid ecosystem in the south-west coast of India, were analysed. Temporal variations in nutrient stoichiometry, seasonal characteristics of redox elements Fe and S, and the phosphorus geochemistry were employed for the purpose. The stoichiometric analysis pointed towards autochthonous origin of organic matter, possibility of nitrogen limitation, and allochthonous modification of redox conditions. Seasonal variations were not statistically significant for all the geochemical parameters, whereas significant spatial variations were observed with lower values at sandy stations, suggesting that the texture of the sediments is the main factor influencing the sediment geochemistry. Significant inter-relations between the geochemical parameters also suggest a common control mechanism. Based on these geochemical characteristics, the study region can be effectively categorized into two distinct zones, viz. (1) erosion and transportation and (2) deposition zones.     

A special adaptation to planktonic life in larvae of the Cassoidea (=Tonnoidea) (Gastropoda)

Living veligers of the Cassoidea have been observed to use a mantle appendage to form and resorb periostracum. Anatomical and histological examinations of a ranellid (Cymatium sp.) larva collected from the Red Sea in 1987 revealed the structure and location of the pallial appendage. The mantle edges of juvenile or adult species of the Cassoidea do not show a comparable specialization. It is demonstrated that cassoid larval conch characters are sufficient to prove the existence of a pallial appendage without anatomical confirmation. A mantle appendage is not known from teleplanic (long-living planktic) veligers of other gastropod superfamilies. In cases where the larval strategies of the latter are known they are totally different. Therefore it is suggested that the adaptation of cassoid larvae to pelagic life is unique among gastropods representing an autapomorphic character of the superfamily.     

To stay or to go: voluntary survivor turnover following an organizational downsizing

This paper examines the relationship between survivor reactions to a downsizing and retention subsequent to a downsizing. We hypothesize that survivors who experience the downsizing as distributively, procedurally, and interactionally just and who see top management as trustworthy will feel more attached to the organization because each reduces the threat inherent in downsizing. In addition, we hypothesize that survivors who feel empowered will also feel more attached to the organization because they feel better able to cope with the downsizing. We further hypothesize that those survivors who feel more attached to the organization following the downsizing will be more likely to remain with the organization in the coming year. The theoretical model is tested on a sample of aerospace employees who survived an organizational downsizing. The trustworthiness of management, distributive justice, procedural justice, and three dimensions of empowerment are found to facilitate more organizational attachment. Higher levels of attachment are found, in turn, to facilitate less voluntary turnover in the year following the downsizing. Copyright © 2002 John Wiley & Sons, Ltd.     

Utility of stormwater monitoring.

Stormwater runoff is now a major contributor to the pollution of coastal waters in the United States. Public agencies are responding by requiring stormwater monitoring to satisfy the National Pollutant Discharge Elimination System stormwater permit. However, studies to understand the utility of the current programs or to improve their usefulness have not yet been performed. In this paper, we evaluate the land-use-based program, the industrial stormwater permit program, and beach water-quality monitoring in the County of Los Angeles, California, to determine if the results will be helpful to planners and regulators in abating stormwater pollution. The utility of the program has been assessed based on the programs' ability to accurately estimate the emissions for different classes of land use. The land-use program appears successful, while the industrial monitoring program does not. Beach water-quality monitoring suffers from a lack of real-time monitoring techniques. We also provide suggested improvements, such as sampling method and time, and parameter selection.