A quantitative application of symbolic interactionism to advance directive completion by older adults

This study examined contextual and situational influences on older adults' decision to complete advance directives by means of a conceptual framework derived from symbolic interactionist theory and a cross-sectional, correlational research design. It was hypothesized that completion of advance directives among older adults would be associated with visiting or participating in the care of a terminally ill or permanently incompetent individual sustained by technology. Using a 53-item questionnaire, computer assisted telephone interviews (CATI) were conducted with 398 community dwelling adults between September and October 2003. Respondents were contacted using random-select dialing from a listed sample of 99% of household telephone numbers in one South Florida census tract. Over 90% of households in this tract include an individual age 65 or older. ^ The results revealed that contrary to most reports in the literature a substantial proportion of older adults (82%) had completed advance directives and that the link between older adults and document completion was mainly through attorneys and not mandated agents, health care professionals. Further, more than one third of older adults reported that religion/spirituality was not an important part of their life, suggesting that the recommended practice of offering religious/spiritual counseling to all those approaching death be reexamined. The hypothesis was not supported (p > .05) and is explained by the situational emphasis on the variables rather than on structural influences. In logistic regression analysis, only increasing age (p = .001) and higher education (p = < .001) were significant but explained only 10% of the variance in document completion. ^ Based on the findings, increased interdisciplinary collaboration is suggested with regard to the advance directive agenda. Since attorneys play a key role in document completion, other professions should seek their expertise and collaboration. In addition, the inclusion of a religious/spiritual preference section in all living wills should be considered as an essential part of a holistic and individually appropriate document. Implications for social work education, practice, and advocacy are discussed as well as suggestions for further research. ^

Mutation at the Human D1S80 Minisatellite Locus

Little is known about the general biology of minisatellites. The purpose of this study is to examine repeat mutations from the D1S80 minisatellite locus by sequence analysis to elucidate the mutational process at this locus. This is a highly polymorphic minisatellite locus, located in the subtelomeric region of chromosome 1. We have analyzed 90,000 human germline transmission events and found seven (7) mutations at this locus. The D1S80 alleles of the parentage trio, the child, mother, and the alleged father were sequenced and the origin of the mutation was determined. Using American Association of Blood Banks (AABB) guidelines, we found a male mutation rate of 1 . 0 4 × 1 0− 4 and a female mutation rate of 5 . 1 8 × 1 0− 5 with an overall mutation rate of approximately 7 . 7 7 × 1 0− 5. Also, in this study, we found that the identified mutations are in close proximity to the center of the repeat array rather than at the ends of the repeat array. Several studies have examined the mutational mechanisms of the minisatellites according to infinite allele model (IAM) and the one-step stepwise mutation model (SMM). In this study, we found that this locus fits into the one-step mutation model (SMM) mechanism in six out of seven instances similar to STR loci.

Novel NR5A1 Missense Mutation in Premature Ovarian Failure: Detection in Han Chinese Indicates Causation in Different Ethnic Groups

Background The etiology of most premature ovarian failure (POF) cases is usually elusive. Although genetic causes clearly exist and a likely susceptible region of 8q22.3 has been discovered, no predominant explanation exists for POF. More recently, evidences have indicated that mutations in NR5A1 gene could be causative for POF. We therefore screened for mutations in the NR5A1 gene in a large cohort of Chinese women with non-syndromic POF. Methods Mutation screening of NR5A1 gene was performed in 400 Han Chinese women with well-defined 46,XX idiopathic non-syndromic POF and 400 controls. Subsequently, functional characterization of the novel mutation identified was evaluated in vitro. Results A novel heterozygous missense mutation [c.13T>G (p.Tyr5Asp)] in NR5A1 was identified in 1 of 384 patients (0.26%). This mutation impaired transcriptional activation on Amh, Inhibin-a, Cyp11a1and Cyp19a1 gene, as shown by transactivation assays. However, no dominant negative effect was observed, nor was there impact on protein expression and nuclear localization. Conclusions This novel mutation p.Tyr5Asp, in a novel non-domain region, is presumed to result in haploinsufficiency. Irrespectively, perturbation in NR5A1 is not a common explanation for POF in Chinese.

A software tool that generates symbolic model verifier (SMV) input language from a predicate transition net

The purpose of this research was to apply model checking by using a symbolic model checker on Predicate Transition Nets (PrT Nets). A PrT Net is a formal model of information flow which allows system properties to be modeled and analyzed. The aim of this thesis was to use the modeling and analysis power of PrT nets to provide a mechanism for the system model to be verified. Symbolic Model Verifier (SMV) was the model checker chosen in this thesis, and in order to verify the PrT net model of a system, it was translated to SMV input language. A software tool was implemented which translates the PrT Net into SMV language, hence enabling the process of model checking. The system includes two parts: the PrT net editor where the representation of a system can be edited, and the translator which converts the PrT net into an SMV program.