RESUMO
This pilot study examined the feasibility and satisfaction of the Recovering Safety group, an outpatient empowerment, psychoeducational skills group for women with substance use disorders (SUDs) who have experienced intimate partner violence (IPV). Patient satisfaction, empowerment, and safety were assessed at three time points. Participants (N=8) reported high satisfaction with the group and rated the IPV-informed content, women-only participants, and female therapist as important factors; empowerment increased from pre- to post group. These results support initial feasibility; further study of such treatments is needed to examine efficacy of this group intervention.
RESUMO
Increased HbF levels or F-cell (HbF containing erythrocyte) numbers can ameliorate the disease severity of beta-thalassemia major and sickle cell anemia. Recent genome-wide association studies reported that single nucleotide polymorphisms (SNPs) in BCL11A gene on chromosome 2p16.1 were correlated with F-cells among healthy northern Europeans, and HbF among Sardinians with beta-thalassemias. In this study, we showed that SNPs in BCL11A were associated with F-cell numbers in Chinese with beta-thalassemia trait, and with HbF levels in Thais with either beta-thalassemia or HbE trait and in African Americans with sickle cell anemia. Taken together, the data suggest that the functional motifs responsible for modulating F-cells and HbF levels reside within a 3 kb region in the second intron of BCL11A.
Assuntos
Proteínas de Transporte/genética , Hemoglobina Fetal/genética , Hemoglobinopatias/genética , Proteínas Nucleares/genética , Locos de Características Quantitativas , Negro ou Afro-Americano/genética , Anemia Falciforme/genética , Anemia Falciforme/metabolismo , Povo Asiático/genética , Hemoglobina Fetal/metabolismo , Hemoglobinopatias/metabolismo , Humanos , Íntrons , Polimorfismo de Nucleotídeo Único , Proteínas Repressoras , Tailândia , Talassemia beta/genética , Talassemia beta/metabolismoRESUMO
BACKGROUND: One of the challenges of the analysis of pooling-based genome wide association studies is to identify authentic associations among potentially thousands of false positive associations. RESULTS: We present a hierarchical and modular approach to the analysis of genome wide genotype data that incorporates quality control, linkage disequilibrium, physical distance and gene ontology to identify authentic associations among those found by statistical association tests. The method is developed for the allelic association analysis of pooled DNA samples, but it can be easily generalized to the analysis of individually genotyped samples. We evaluate the approach using data sets from diverse genome wide association studies including fetal hemoglobin levels in sickle cell anemia and a sample of centenarians and show that the approach is highly reproducible and allows for discovery at different levels of synthesis. CONCLUSION: Results from the integration of Bayesian tests and other machine learning techniques with linkage disequilibrium data suggest that we do not need to use too stringent thresholds to reduce the number of false positive associations. This method yields increased power even with relatively small samples. In fact, our evaluation shows that the method can reach almost 70% sensitivity with samples of only 100 subjects.