Spanish version of the Family Interview for Genetic Studies (FIGS).

INTRODUCTION: The use of the Family Interview for Genetic Studies (FIGS), has made it possible to advance in the performance of family studies for research in genetic psychiatry. This study aimed to adapt this interview into Spanish and develop a validation process of the FIGS in a sample of Cuban families with a family background of schizophrenia. METHODS: The English version of the FIGS was translated into Spanish and was used in this study. The content was validated through the consensus score of several referees. The questionnaire was administered to at least two informants of 146 families of patients diagnosed of schizophrenia. Internal consistency of the items was analyzed, calculating Pearson's correlation coefficients and Cronbach's alpha of the FIGS and reliability. RESULTS: In general the Spanish version of the FIGS interview was found to be useful. Internal consistency of the FIGS as measured by Cronbach's alpha coefficient has been found to be 0.92 for depression, 0.99 for mania; 0.94 for psychosis, 0.94 for alcohol and drugs and 0.97 for personality disorders, which indicates values having satisfactory reliability. In addition, Pearson's correlation coefficient varied from the 0.41 to 0.99 for the different lists of symptoms mentioned above and all were statistically significant (p<0.0001). CONCLUSIONS: This questionnaire is reliable and valid for gathering diagnostic information about relatives of probands and thus suitable for use in genetic studies of Cuban families with a history of schizophrenia.

Spanish version of the Family Interview for Genetic Studies (FIGS)

Introduction. The use of the Family Interview for Genetic Studies (FIGS), has made it possible to advance in the performance of family studies for research in genetic psychiatry. This study aimed to adapt this interview into Spanish and develop a validation process of the FIGS in a sample of Cuban families with a family background of schizophrenia. Methods. The English version of the FIGS was translated into Spanish and was used in this study. The content was validated through the consensus score of several referees. The questionnaire was administered to at least two informants of 146 families of patients diagnosed of schizophrenia. Internal consistency of the items was analyzed, calculating Pearson’s correlation coefficients and Cronbach’s alpha of the FIGS and reliability. Results. In general the Spanish version of the FIGS interview was found to be useful. Internal consistency of the FIGS as measured by Cronbach's alpha coefficient has been found to be 0.92 for depression, 0.99 for mania, 0.94 for psychosis, 0.94 for alcohol and drugs and 0.97 for personality disorders, which indicates values having satisfactory reliability. In addition, Pearson's correlation coefficient varied from the 0.41 to 0.99 for the different lists of symptoms mentioned above and all were statistically significant (p <0.0001).Conclusions. This questionnaire is reliable and valid forgathering diagnostic information about relatives of probands and thus suitable for use in genetic studies of Cuban families with a history of schizophrenia (AU)

Introducción. El uso de la Entrevista Familiar para Estudios Genéticos (FIGS) ha permitido un avance para la realización de los estudios familiares con fines investigativos en psiquiatría genética. El presente trabajo tuvo por objetivo realizar la adaptación al español y desarrollar un proceso de validación de la FIGS en una muestra de familias cubanas con historia familiar de esquizofrenia. Métodos. Se realizó la traducción y cambios lingüísticos al castellano de la versión en inglés de la FIGS y la validación de contenido por el procedimiento de la validez interjueces. El cuestionario fue aplicado al menos a dos informantes a 146 familias de pacientes con diagnóstico de esquizofrenia. Se hizo el análisis de la consistencia interna de los ítems calculando los coeficientes de correlación de Pearson y el coeficiente alfa de Cronbach. Resultados. La adaptación al español de la FIGS resultó ser un instrumento útil. La consistencia interna de la FIGS fue medida con el coeficiente alfa de Cronbach, que fue de 0,92 para la depresión, 0,99 para manía, 0,94 para psicosis, 0,94 para alcohol y drogas y 0,97 para los trastornos de personalidad, lo que indica valores de fiabilidad satisfactorios. Los coeficientes de correlación variaron de0,41 hasta 0,99 para las distintas listas de síntomas y todos fueron estadísticamente significativos (p<0,0001). Conclusiones. La adaptación al español de la FIGS mostró fiabilidad, validez de apariencia y contenido y valores elevados en el análisis de la consistencia interna de los ítems para el estudio genético familiar en familias cubanas con diagnóstico de esquizofrenia (AU)

Eficiencia de la detección automática de potenciales evocados auditivos de estado estable a múltiples frecuencias evaluada mediante la metodología ROC / Efficiency of the automatic detection of multiple auditory steady state responses measured with ROC methodology

En este estudio se compara mediante curvas características de operación del receptor (ROC, siglas en inglés) la eficiencia de la detección automática de potenciales evocados auditivos de estado estable a múltiples frecuencias (PEAee a MF) con la de una técnica ya establecida como los potenciales evocados auditivos de tronco cerebral (PEATC) a click. Para la detección automática de los PEATC se utilizaron dos indicadores estadísticos: 1) cociente de desviación estándar (SDR, siglas en inglés) entre la señal y el ruido; 2) coeficiente de correlación (CCR) entre dos réplicas. La identificación de los PEAee a MF se realizó mediante los indicadores estadísticos T2 de Hotelling (T2H) y T2 circular (T2C) calculados en el dominio de la frecuencia. Las curvas ROC se computaron sobre una muestra de 222 registros (34 sin respuesta y 188 con respuesta) obtenidos a una intensidad fija de 40 dB nHL. Aunque ambas respuestas fueron identificadas eficientemente con estos indicadores estadísticos, la detectabilidad de los PEAee a MF fue mejor, con áreas bajo la curva ROC (T2H: 0,91-0,95 y T2C: 0,90-0,91 para 0,5 y 2 KHz) mayores que las del PEATC de 0,60 (CCR) y 0,87 (SDR). Por otra parte, la prueba de cribado con PEAee a MF fue de mayor duración (5,4 +/- 2,5 min) que la de PEATC (2,5 +/-1,6 min). Se concluye que la técnica de PEAee a MF muestra ventajas significativas para su automatización sobre los PEATC a click, facilitándose así la identificación objetiva de la respuesta umbral y perfeccionada pudiera resultar útil en un sistema de detección y diagnóstico temprano de pérdidas auditivas

Here we evaluate comparatively using receiver operating characteristics (ROC) curves, the efficiency of the automatic detection of multiple auditory steady state responses (MSSR) with an established methodology such as click auditory brainstem responses (cABR). For the automatic detection of cABR two statistics were calculated: the standard deviation ratio (SDR) between the signal and the background noise and the correlation coefficient ratio (CCR) between two replicates, whereas for the MSSR the statistics in the frequency domain Hotelling T2 (HT2) and circular T2 (CT2) were used. The ROC curves were computed over 222 recordings (34 without response y 188 with response) obtained at a fixed intensity of 40 dB nHL. Although these evoked responses (cABR and MSSR) could be identified efficiently by the different statistics, the MSSR showed better efficiency with higher areas under the ROC curve (HT2: 0,91-0,95 and CT2: 0,90-0,91 for 0,5 and 2 KHz) compared to the cABR (0,60 for CCR and 0,87 for the SDR). However, the MSSR had lower time-efficiency than the cABR (MSSR: 5,4 +/-2,5 minutes, cABR: 2,5 +/-1,6 minutes). We conclude that the MSSR technique show significant advantages for the automated detection of near threshold responses over cABR and further improved could be valuable within a screening context

Restriction fragment length polymorphism analysis of 16S rDNA and low molecular weight RNA profiling of rhizobial isolates from shrubby legumes endemic to the Canary islands.

Thirty-six strains of slow-growing rhizobia isolated from nodules of four woody legumes endemic to the Canary islands were characterised by 16S rDNA PCR-RFLP analyses (ARDRA) and LMW RNA profiling, and compared with reference strains representing Bradyrhizobium japonicum, B. elkanii, B. liaoningense, and two unclassified Bradyrhizobium sp. (Lupinus) strains. Both techniques showed similar results, indicating the existence of three genotypes among the Canarian isolates. Analysis of the combined RFLP patterns obtained with four endonucleases, showed the existence of predominant genotype comprising 75% of the Canarian isolates (BTA-1 group) and the Bradyrhizobium sp. (Lupinus) strains. A second genotype was shared by nine Canarian isolates (BGA-1 group) and the B. japonicum and B. liaoningense reference strains. The BES-5 strain formed an independent group, as also did the B. elkanii reference strains. LMW RNA profile analysis consistently resolved the same three genotypes detected by 16S ARDRA among the Canarian isolates, and suggested that all these isolates are genotypically more related to B. japonicum than to B. elkanii or B. liaoningense. Cluster analysis of the combined 16S ARDRA and LMW RNA profiles resolved the BTA-1 group with the Bradyrhizobium sp. (Lupinus) strains, and the BES-5 isolate, as a well separated sub-branch of the B. japonicum cluster. Thus, the two types of analyses indicated that the isolates related to BTA-1 conform a group of bradyrhizobial strains that can be clearly distinguishable from representatives of the tree currently described Bradyrhizobium species. No correlation between genotypes, host legumes, and geographic location was found.

[Chromosomic etiology of male sterility and infertility]. / Etiología cromosómica de la esterilidad e infertilidad masculina.

Recent advances in the knowledge of sexual development have been obtained by studying individuals with dysgenetic gonads and reproductive tract alterations. By using probes Y-ADN in these patients, it was found that a gene of the short arms of Y chromosome, induces testicular differentiation. The way this gene acts is not known, but the observation that there are homologue sequencies in X and Y, suggests the possibility that sexual differentiation depends on genic doses. Other genes like the one that codifies for antigen H-Y, for skeletal maturation, body growth, dental size and spermatogenesis regulation, have been identified in chromosome Y. Findings that have allowed a better understanding of genetic and cytogenetic factor involved in sterility-infertility.

[Prenatal diagnosis using chorionic villi]. / Diagnóstico prenatal por medio de vellosidades coriónicas.

Chorionic villus sampling (CVS) has a promising future about early detection of fetal abnormalities. It has the potential to become a major tool in the prenatal diagnosis and therapy of genetic disorders. Villus samples can be analyzed by means of cytogenetic, biochemical or molecular technics. Information available at present indicates fetal loss rate should be in the same proportion than amniocentesis. CVS appears to be a reasonably safe and reliable method of prenatal diagnosis in the first trimester of pregnancy. This procedure is setting as fast as it is possible like an excellent alternative to amniocentesis.