RESUMENES

Quinta Sesión de Presentaciones Orales

R-089

THE HIV SYMTOM EXPERIENCE OF LATINA WOMEN. L.N. Gaud, School of Nursing, Graduate Program, UPR-RCM, San Juan, Puerto Rico

In Puerto Rico, 23% of all AIDS cases reported between 1981 and 2005 were in women. Women are the fastest growing group of people living with HIV/AIDS in the island. Symptoms related to HIV/AIDS have been found to be a significant reason for medication non-adherence and are correlated with depression and lower quality of life. The purpose of this descriptive study is to describe the symptom experience of a sample of HIV positive women in Puerto Rico (n= 72). The Revised Sign & Symptom Checklist for Persons with HIV Disease was used to collect data. Participants were asked to rate the intensity (mild, moderate, severe) of the symptoms (out of a list of 72 possible symptoms) they were experiencing at the moment of measure. According to preliminary data muscle aches, weakness and depression were the most frequent symptoms reported. The number of symptoms experienced by this group was quite high. Participants also have some significant factors affecting their quality of life, such as level of income. Nursing research can contribute towards understanding how HIV-related symptoms impact their quality of life and what types of symptom management skills would be useful.

R-090

Autosomal Dominant Juvenile Myoclonic epilepsy not linked to GABRA 1 gene mutation in a Puerto Rican Family. M. Fiol-Elias, University of Minnesota, MN, W. Oetting, University of MN, C. Cadilla, University of Puerto Rico RCM, J. Roman,University of Puerto Rico RCM; N.J. Downing, University of MN, B. Chaar, RCM

Objective: This study identifies genetic factors associated with familial epilepsy in Puerto Rico (PR) and reports the findings on a rare form of Autosomal Dominant (AD) Juvenile Myoclonic Epilepsy (JME).

Background: PR is characterized by large families, consanguinity, and a possible founder effect as identified in Hermansky-Pudlak (Ankister et al), oculo-cutaneous albinism (Wilber et al), and schizophrenia (Oetting et al). Genetic information was obtained in 15 families evaluated at a referral center at the UPR Clinical Research Center.

Design/Methods: 80 families with epilepsy were identified, 15 were ascertained for; type of seizures, age of onset, pedigree, neuro-imaging, EEG data and DNA was extracted in 53 consented subjects. A Puerto Rican family with AD JME was genotyped. A report by Cossette et al in a AD-JME French-Canadian family showed a mutation in the GABRA 1 gene, and Gardiner et al reported CHRN A7, A4 mutations. The GABRA 1 gene in 5q34 of 3 affected and 3 unaffected members was sequenced.

Results: The family with JME will be characterized and demographed. No significant mutations of the GABRA 1 gene in the promoter region or exons 3-11 was found and will be looked into.

Conclusion/Relevance: A study in progress of the genetics of epilepsies in PR is informative because of the characteristics of this population. A family with AD-JME was genotyped and revealed no mutations in the GABRA 1 gene as reported. Other locii for this rare form of seizures will be searched for. This study confirms the genetic heterogeneity of this epilepsy syndrome.

R-091

Pathways to “Environmental Health Evidence Based” Policy and Practice: A framework for community action. V.E. Reyes Ortiz, MSc, R.R. Dávila Torres, MS, University of Puerto Rico, Graduate School of Public Health

Objective: Proposed an evidence based policy and practice pathways that help both research/policy actors and community navigate the use of evidence. Method: To formulate the evidence based policy and practice pathway, we reviewed relevant literature for health, public policy, and the social sciences. Results: Three stages are identified: (1) sourcing the evidence, (2) using the evidence and (3) implementing the evidence. Also, several decision making factors were identified as part of the pathway. Conclusion: Understanding how evidence informs policy and practice is critical in promoting effective and sustained public health action.

R-092

Molecular Tool Based on the arrA Gene to Characterize Arsenate-Respiring Bacteria. J.R. Pérez-Jiménez1; and L. Y. Young2. 1University of Puerto Rico-Bayamón; and 2Rutgers, The State University of New Jersey, New Brunswick, NJ.

The arsenate-respiring bacteria (ARB) are a diverse group that derives energy from arsenate. Arsenate respiratory reductase (ARR) catalyzes the process and forms a distinctive cluster within the DMSO reductase family. Despite the lack of biochemical understanding about ARR, its gene (arrA) could be used as a biomarker to distinguish ARB. Our objective is to develop a molecular tool for the characterization of ARB based on a large fragment of the arrA gene. Primers for nearly complete, internal and partial amplification of the arrA gene were designed and tested on genomic DNA from several ARB, non-ARB and environmental samples. Resulting amplicons were cloned for sequencing and phylogenetic analysis. Several combinations of degenerate primers produced amplicons of ~0.8, 1.3, and 2.3 kb for the arrA of B. selenitireducens consisting of one single band of the expected size. A fragment of ~2.1 kb was cloned and sequenced. No amplicon was observed for Escherichia coli or Pseudomonas putida that possess several DMSO-type reductases. Amplicons (~2.1 kb) for Bacillus macyae, Desulfosporosinus sp. Y5, and Sulfurospirillum arsenophilum were sequenced. Phylogenetic topology based on the arrA gene was partially congruent with that of 16S rRNA-based analysis. We have generated considerably long arrA amplicons. A molecular biomarker should be long enough and genetically persistent to register evolutionary changes suitable for characterization. We continue examining the arrA gene from isolates and environmental samples to resolve their diversity and develop specific detection tools. Supported by: NIEHS (N00014-99-1-0), NSF CHE-0221978.