RESUMO
Hereditary neuropathy with liability to pressure palsies (HNPP) has been a associated with a deletion of 1.5 megabases of chromosome 17p. One of four biopsy proven HNPP families that we have studied did not possess this deletion. As the deleted DNA region includes the coding region for a peripheral myelin gene (PMP22), we used single strand conformation analysis to examine this gene for mutations in the non-deleted HNPP family. An abnormal fragment in exon 1 was identified, and sequencing revealed a two base pair deletion in all affected family members. The deletion results in a frame shift, providing strong evidence that this gene has an important role in the pathogenesis of the disease.
Assuntos
Mutação da Fase de Leitura , Doenças do Sistema Nervoso/genética , Sequência de Bases , Cromossomos Humanos Par 17 , DNA/genética , Primers do DNA/genética , Éxons , Feminino , Humanos , Masculino , Dados de Sequência Molecular , Proteínas da Mielina/genética , Paralisia/genética , Linhagem , Pressão , Deleção de SequênciaRESUMO
The basic elements needed to establish a formal ergonomics program are addressed: work site analysis, hazard prevention, training and education and medical management. Occupational risk factors, both environmental and workplace, also are identified.
Assuntos
Ergonomia , Pessoal de Saúde , Serviços de Saúde do Trabalhador/organização & administração , Humanos , Descrição de Cargo , Supervisão de Enfermagem , Medição de RiscoRESUMO
In summary, we have seen that there isn't sufficient data available to properly assess this problem, but from what exists we are fairly sure that teen-age alcohol abuse is on the rise. We have also noted that there are many area agencies for alcoholics, but that there is not much coordinated effort, and essentially none for teen-agers. This is probably due to its being a relatively new trend and that many people are apparently refusing to admit that it exists. Also covered were possible causes for this new problem and the various roles of nurses in prevention. These include school nurses, public health nurses, and others in community and state politics, promotion of new educational methods, family teaching both at home and in the hospital, new responsibilities of the school nurse, and research. These are challenging roles, but also very important considering that these teen-agers who are flirting with trouble today will be rearing families and defining social behavior tomorrow.