A Comparison of the Technical Communications Practices of Japanese and U.S. Aerospace Engineers and Scientists

To understand the diffusion of aerospace knowledge, it is necessary to understand the communications practices and the information-seeking behaviors of those involved in the production, transfer, and use of aerospace knowledge at the individual, organizational, national, and international levels. In this paper, we report selected results from a survey of Japanese and U.S. aerospace engineers and scientists that focused on communications practices and information-seeking behaviors in the workplace. Data are presented for the following topics: importance of and time spent communicating information, collaborative writing, need for an undergraduate course in technical communications, use of libraries, the use and importance of electronic (computer) networks, and the use and importance of foreign and domestically produced technical reports. The responses of the survey respondents are placed within the context of the Japanese culture. We assume that differences in Japanese and U.S. cultures influence the communications practices and information-seeking behaviors of Japanese and U.S. aerospace engineers and scientists

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Joubert syndrome-related disorders (JSRDs) are autosomal recessive pleiotropic conditions sharing a peculiar cerebellar and brainstem malformation known as the 'molar tooth sign' (MTS). Recently, mutations in a novel ciliary gene, RPGRIP1L, have been shown to cause both JSRDs and Meckel-Gruber syndrome. We searched for RPGRIP1L mutations in 120 patients with proven MTS and phenotypes representative of all JSRD clinical subgroups. Two homozygous mutations, the previously reported p.T615P in exon 15 and the novel c.2268_2269delA in exon 16, were detected in 2 of 16 families with cerebello-renal presentation (similar to 12%). Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (< 2%)