Rhodopsin mutations in autosomal dominant retinitis pigmentosa

Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form (adRP), which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. So far, 41 single-base-pair (bp) substitutions, one two-bp substitution, and four deletions ranging from 3 to 42 bp have been identified in this gene. These mutations do not appear to be significantly clustered in a specific part of the protein, but occur in all three major domains, namely the intradiscal, transmembrane, and cytoplasmic regions. Different mutations appear to cause differences in the severity of the disease, though there is considerable variability in severity even within the same family, at least in certain of these mutations. Identification of all the mutations involved in rhodopsin-RP should allow accurate and early detection of affected individuals, informed genetic counselling, as well as furthering our knowledge of the disease process involved.     

German Materials Science: A self-portrait

An influential and refreshingly frank report on the state of health of non-university materials research in Germany has recently been published. National Research Centers, Max Planck Institutes, and Fraunhofer Institutes are among the organizations covered. Recommendations are made on the basis of materials type, and on the performances of the individual institutes. The conclusions of this self-portrait, painted by representatives of the organizations themselves along with participants from the universities, industry, and state, will provide food for thought for both German materials scientists and those in other European countries concerned with the future development of this crucial economic sector.     

Interrelations of social support measures: Theoretical and practical implications.

To obtain a clearer picture of what constitutes social support, we conducted three studies to compare measures of different conceptions of social support. Relations of these instruments to various personality measures were also investigated. Subdividing the construct into discrete functions did not add to the sensitivity of the indices. Measures of received support and support networks were not strongly related to most of the perceived available support measures. Interview and questionnaire approaches were similar in the information they evoked about close supportive relationships. The results suggest that measures of perceived available support, regardless of the way the instruments attempt to break down the construct, generally assess the extent to which an individual is accepted, loved, and involved in relationships in which communication is open. Psychometric characteristics of the measures were associated with differential sensitivity over the range of supportive relationships. The theoretical implications of the findings are discussed with emphasis on the common core underlying social support indices. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Familiarity and plausibility in conceptual combination: Reply to Gagné and Spalding (2006).

E. J. Wisniewski and G. L. Murphy (see record 2004-22496-015) suggested that the apparent effects of relation frequency in C. L. Gagné and E. J. Shoben's (1997; see record 1997-02349-004) conceptual combination experiments could be explained by differences between the familiarity and plausibility of their stimuli (noun-noun phrases). However, C. L. Gagné and T. L. Spalding (see record 2006-20573-017) argued that Wisniewski and Murphy's measures of plausibility and frequency are both sensitive to relation frequency. They also suggested that the stimuli were mostly novel, such that differences in familiarity could not explain Gagné and Shoben's findings. The current authors focus on the theoretical rationale for the plausibility and familiarity variables, arguing that the original interpretation of their findings is correct. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Polymeric materials

Summary The Polymer Section of the Santa Barbara Workshop on Modeling of Materials is briefly reviewed. Motivation and need for modeling in polymer-based materials are outlined and the recommendations resulting from the workshop reported.     

A multiparameter wearable physiologic monitoring system for space and terrestrial applications.

A novel, unobtrusive and wearable, multiparameter ambulatory physiologic monitoring system for space and terrestrial applications, termed LifeGuard, is presented. The core element is a wearable monitor, the crew physiologic observation device (CPOD), that provides the capability to continuously record two standard electrocardiogram leads, respiration rate via impedance plethysmography, heart rate, hemoglobin oxygen saturation, ambient or body temperature, three axes of acceleration, and blood pressure. These parameters can be digitally recorded with high fidelity over a 9-h period with precise time stamps and user-defined event markers. Data can be continuously streamed to a base station using a built-in Bluetooth RF link or stored in 32 MB of on-board flash memory and downloaded to a personal computer using a serial port. The device is powered by two AAA batteries. The design, laboratory, and field testing of the wearable monitors are described.     

Internalin B promotes the replication of Listeria monocytogenes in mouse hepatocytes

The uptake of Listeria monocytogenes by a variety of cell types in vitro is facilitated by the protein products of the inlAB (internalin) operon expressed by the organism. In the case of mouse hepatocytes, the extent to which inlAB expression influenced the uptake of Listeria in vitro was markedly dependent upon the ratio of bacteria to cells. At a ratio of 100:1, greater than 40-fold fewer transposon-induced inl4B mutant listeriae entered hepatocytes compared to the isogenic wild-type control; the difference was only fourfold, however, in cultures inoculated at a 1:1 ratio. Similarly, the uptake of in-frame inlB or inlAB deletion mutants differed only fourfold from the uptake of wild-type or inlA mutant Listeria at a 1:1 multiplicity of infection. Mutations affecting inlB or inlAB, on the other hand, resulted in a marked decrease in the capacity of Listeria to proliferate within mouse hepatocytes in vivo and in vitro. Electron micrographs of Listeria-infected hepatocytes demonstrated the impaired capacity of inlB mutants to escape from endocytic vacuoles and to enter the cytoplasm where proliferation occurs. These findings indicate that the protein product of inlB exerts a significant effect on the intracellular replication of Listeria.