RESUMEN
The purpose of the present study was to translate and adapt the Berg balance scale, an instrument for functional balance assessment, to Brazilian-Portuguese and to determine the reliability of scores obtained with the Brazilian adaptation. Two persons proficient in English independently translated the original scale into Brazilian-Portuguese and a consensus version was generated. Two translators performed a back translation. Discrepancies were discussed and solved by a panel. Forty patients older than 65 years and 40 therapists were included in the cultural adaptation phase. If more than 15 percent of therapists or patients reported difficulty in understanding an item, that item was reformulated and reapplied. The final Brazilian version was then tested on 36 elderly patients (over age 65). The average age was 72 years. Reliability of the measure was assessed twice by one physical therapist (1-week interval between assessments) and once by one independent physical therapist. Descriptive analysis was used to characterize the patients. The intraclass correlation coefficient (ICC) and Pearson's correlation coefficient were computed to assess intra- and interobserver reliability. Six questions were modified during the translation stage and cultural adaptation phase. The ICC for intra- and interobserver reliability was 0.99 (P < 0.001) and 0.98 (P < 0.001), respectively. The Pearson correlation coefficient for intra- and interobserver reliability was 0.98 (P < 0.001) and 0.97 (P < 0.001), respectively. We conclude that the Brazilian version of the Berg balance scale is a reliable instrument to be used in balance assessment of elderly Brazilian patients.
Asunto(s)
Humanos , Masculino , Femenino , Anciano , Actividades Cotidianas , Evaluación de la Discapacidad , Evaluación Geriátrica , Equilibrio Postural , Encuestas y Cuestionarios , Brasil , Características Culturales , Variaciones Dependientes del Observador , Reproducibilidad de los Resultados , TraducciónRESUMEN
The purpose of the present study was to translate and adapt the Berg balance scale, an instrument for functional balance assessment, to Brazilian-Portuguese and to determine the reliability of scores obtained with the Brazilian adaptation. Two persons proficient in English independently translated the original scale into Brazilian-Portuguese and a consensus version was generated. Two translators performed a back translation. Discrepancies were discussed and solved by a panel. Forty patients older than 65 years and 40 therapists were included in the cultural adaptation phase. If more than 15% of therapists or patients reported difficulty in understanding an item, that item was reformulated and reapplied. The final Brazilian version was then tested on 36 elderly patients (over age 65). The average age was 72 years. Reliability of the measure was assessed twice by one physical therapist (1-week interval between assessments) and once by one independent physical therapist. Descriptive analysis was used to characterize the patients. The intraclass correlation coefficient (ICC) and Pearson's correlation coefficient were computed to assess intra- and interobserver reliability. Six questions were modified during the translation stage and cultural adaptation phase. The ICC for intra- and interobserver reliability was 0.99 (P < 0.001) and 0.98 (P < 0.001), respectively. The Pearson correlation coefficient for intra- and interobserver reliability was 0.98 (P < 0.001) and 0.97 (P < 0.001), respectively. We conclude that the Brazilian version of the Berg balance scale is a reliable instrument to be used in balance assessment of elderly Brazilian patients.
Asunto(s)
Actividades Cotidianas , Evaluación de la Discapacidad , Evaluación Geriátrica/métodos , Equilibrio Postural , Encuestas y Cuestionarios/normas , Anciano , Brasil , Características Culturales , Femenino , Humanos , Masculino , Variaciones Dependientes del Observador , Reproducibilidad de los Resultados , TraducciónRESUMEN
Association/linkage between dopamine D4 receptor (DRD4) polymorphisms and attention-deficit/hyperactivity disorder (ADHD) has been suggested by case-control- and nuclear-family-based studies. Here, we present a candidate gene analysis for DRD4 using 14 extended and multigenerational families segregating ADHD derived from the 'Paisa' community of Antioquia, Colombia, a genetic isolate. Two DRD4 polymorphisms (a 120 bp tandem duplication at the promoter and a 48 bp-VNTR at exon 3), reported associated to ADHD, were genotyped. Parametric and non-parametric linkage analyses, and a family-based association test (FBAT), the pedigree disequilibrium test (PDT), were applied to search for evidence of association/linkage. Two-point LOD scores were significantly negative, with values ranging from -3.21 (P=0.011158) to -7.66 (P=0.000091 at theta=0). Non-parametrical analysis resulted in nonsignificant evidence for linkage. The PDT showed a moderate trend toward significance of association/linkage between the 7-repeat (7R) allele at the 48 bp VNTR and ADHD (P=0.0578). Furthermore, the haplotype analysis shows a significant association/linkage of the 7R-240 bp haplotype (P=0.0467) with ADHD. Results suggest that either a moderate DRD4 genetic effect, or linkage disequilibrium of DRD4 with an ADHD disease locus in the vicinity or the linkage to a phenotypic component of the ADHD spectrum could be underlying this association/linkage. These results provide further evidence for the association of ADHD to genetic variation in or near to DRD4 and replicate the previously reported association between ADHD and the 7R allele.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/genética , Variación Genética , Desequilibrio de Ligamiento , Alelos , Colombia , ADN/sangre , ADN/genética , Exones/genética , Femenino , Genotipo , Humanos , Masculino , Linaje , Polimorfismo Genético/genética , Regiones Promotoras Genéticas/genéticaRESUMEN
Segregation analyses converge in explaining the predisposition to attention-deficit/hyperactivity disorder (ADHD) as the consequence of a major gene and exclude purely environmental or cultural transmission. As a result of the ADHD phenotype restrictions, collection of extended families or design of linkage studies using families has been extremely difficult and thus currently linkage studies have been performed using only concordant or discordant sib-pairs rather than large families. On the other hand, intergenerational studies are represented by the transmission disequilibrium test (TDT) using trios. We collected pedigree data on ADHD from the Paisa community from Antioquia, Colombia, a genetic isolate. The goal of this study was to genetically map a putative gene predisposing to ADHD in a set of 27 multigenerational Paisa families. Here we present the results of a power simulation using SIMLINK to detect linkage of ADHD. ADHD was assumed to be a dichotomous trait with incomplete penetrance and a phenocopy rate of 3% in males and 0.2% in females. We simulated cosegregation of the trait and a marker locus in our pedigrees. We assumed Hardy-Weinberg and linkage equilibrium, equally frequent marker alleles and evaluated power at several recombination fractions between the trait and marker loci. Also, the ADHD trait was assumed to be genetically heterogeneous and different functions of age-dependent penetrance were simulated. We found exceptionally good power to detect linkage (expected LOD > 14 if theta is 0.1 or less), and that the presence of heterogeneity up to 50% does not affect substantially the projected LOD scores even for a theta recombination value of 0.05 (eLOD > 5.87). Having now obtained blood samples and confirmatory interviews in five families (representing 20% of the projected number of families), we performed a new analysis. The expected mean LOD in these five families reached values close to 10 and remained invariant when heterogeneity and different penetrance models were considered. We discuss the relative benefits of using extended and multigenerational families for genetic mapping studies as opposed to using nuclear families, affected sib pairs or sporadic cases which require the collection of over 1000 analytical units to get the same power exhibited by the small number of pedigrees described here.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/genética , Ligamiento Genético , Adulto , Niño , Preescolar , Mapeo Cromosómico , Colombia , Simulación por Computador , Estudios de Factibilidad , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , LinajeRESUMEN
Se estudiaron 45 mujeres en lactancia exclusiva, para explorar la relación entre: los niveles de prolactina (PRL) basal y postsucción con la duración de la amenorrea postparto. Muestras de sangre para medición de PRL se tomaron al tercer mes postparto, antes de un episodio de succión y 30 minutos después de iniciado el episodio. El nivel de PRL basal fue de 1053 ñ 113 mlU/L (X ñ SE). Las mujeres con largos períodos de amenorrea tenían aumento de PRL basal en 632 mlU/L (x) con respecto a aquellas con menstruación antes de 180 días postparto (p ñ 0,036). Los niveles de PRL postsucción fueron mayores en mujeres con amenorreas largas (p = 0,06). No se encontró relación entre el estado menstrual al 6- mes postparto y el incremento de PRL postsucción (delta PRL). Este estudio encuentra que los niveles de PRL basal tiene relación con la duración de la amenorrea en mujeres con lactancia exclusiva