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.     

A closed-chamber CO2-flux method for estimating intertidal primary production and respiration under emersed conditions

This paper describes a closed-chamber method for measuring CO₂ fluxes in intertidal soft sediments during periods of emersion. The method relies on closed-circuit incubations of undisturbed sediment and measurement of CO₂ exchanges using an infrared gas analyser. The method was assessed during field experiments, both in light and dark conditions, on an exposed sandy beach and in an estuary. The rates of gross community production measured under moderate irradiance (4.2 mg C m^-2 h^-1 on the exposed sandy beach and 35 mg C m^-2 h^-1 in the estuary) are in good agreement with rates reported in the literature. In conjunction with appropriate sampling strategies, this method can be useful for estimating and comparing production of intertidal areas or for assessing factors that influence production.     

Wastewater disinfection by peracetic acid: assessment of models for tracking residual measurements and inactivation.

With its potential for low (if any) disinfection byproduct formation and easy retrofit for chlorine contactors, peracetic acid (PAA) or use of PAA in combination with other disinfectant technologies may be an attractive alternative to chlorine-based disinfection. Examples of systems that might benefit from use of PAA are water reuse schemes or plants discharging to sensitive receiving water bodies. Though PAA is in use in numerous wastewater treatment plants in Europe, its chemical kinetics, microbial inactivation rates, and mode of action against microorganisms are not thoroughly understood. This paper presents results from experimental studies of PAA demand, PAA decay, and microbial inactivation, with a complementary modeling analysis. Model results are used to evaluate techniques for measurement of PAA concentration and to develop hypotheses regarding the mode of action of PAA in bacterial inactivation. Kinetic and microbial inactivation rate data were collected for typical wastewaters and may be useful for engineers in evaluating whether to convert from chlorine to PAA disinfection.     

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.