What is next after the genes for autoimmunity?

Clinical pathologies draw us to envisage disease as either an independent entity or a diverse set of traits governed by common physiopathological mechanisms, prompted by environmental assaults throughout life. Autoimmune diseases are not an exception, given they represent a diverse collection of diseases in terms of their demographic profile and primary clinical manifestations. Although they are pleiotropic outcomes of non-specific disease genes underlying similar immunogenetic mechanisms, research generally focuses on a single disease. Drastic technologic advances are leading research to organize clinical genomic multidisciplinary approaches to decipher the nature of human biological systems. Once the currently costly omic-based technologies become universally accessible, the way will be paved for a cleaner picture to risk quantification, prevention, prognosis and diagnosis, allowing us to clearly define better phenotypes always ensuring the integrity of the individuals studied. However, making accurate predictions for most autoimmune diseases is an ambitious challenge, since the understanding of these pathologies is far from complete. Herein, some pitfalls and challenges of the genetics of autoimmune diseases are reviewed, and an approximation to the future of research in this field is presented.

Genotipificación de HLA-B en pacientes colombianos afectados por el síndrome Stevens-Johnson y la Necrólisis Epidérmica Tóxica

Las reacciones alérgicas a medicamentos cutáneas severas (RAM) como el Síndrome Stevens Johnson (SJS) y la Necrólisis Epidérmica Tóxica (NET),caracterizadas por exantema, erosión de la piel y las membranas mucosas, flictenas, desprendimiento de la piel secundario a la muerte de queratinocitos y compromiso ocular. Son infrecuentes en la población pero con elevada morbi-mortalidad, se presentan luego de la administración de diferentes fármacos. En Asia se ha asociado el alelo HLA-B*15:02 como marcador genético para SJS. En Colombia no hay datos de la incidencia de estas RAM, ni de la relación con medicamentos específicos o potenciales y tampoco estudios de aproximación genómica de genes de susceptibilidad.

Consecuencias políticas de la ingeniería genética en humanos un análisis desde la perspectiva de la democracia liberal

La implementación de la ingeniería genética en humanos tiene importantes consecuencias en el orden social, en cuanto afecta los principios de igualdad y libertad de la democracia liberal al propiciar la discriminación entre individuos

Análisis de los cambios epigenéticos en la metilación del DNA inducidos por la diabetes y sus posibles mecanismos

Los cambios epigenéticos son responsables de la aparición de muchas patologías humanas y sus causas son debido a factores ambientales como genéticos. Se ha descrito en enfermedades crónicas como la Diabetes Mellitus tipo 2 (T2DM) que se caracteriza por los estados de hiperglucemia y el incremento en el estrés oxidativo que conlleva a complicaciones micro y macro vasculares, asociado a una desmetilación global del genoma. Nuestra hipótesis corresponde a que los órganos diana son afectados por las alteraciones como la metilación e hidroximetilación como consecuencia del estrés oxidativo que luego repercuten en la persistencia de la enfermedad. Métodos: A partir de sangre periférica se analizaron los cambios globales en la metilación del DNA que son afectados por el estado metabólico de 60 individuos (40 pacientes, 20 controles sanos). Por técnicas de cuantificación se compararon los resultados obtenidos con los de la expresión de las enzimas involucradas. Por último, se realizó un estudio de microarreglos de metilación del DNA y de expresión obtenidos de la base de datos GEO para así comparar los resultados con nuestros datos experimentales. Resultados: Los pacientes diabéticos con pobre control metabólico presentaron mayores niveles de metilación que el grupo control y no se encontró alteración en las enzimas involucradas en este proceso. Los resultados fueron concordantes con el estudio de microarreglos. Conclusión: Los estudios experimentales y de microarreglos demostraron que la metilación es tejido específico y que existe una mayor oxidación en pacientes. Por ello proponemos una vía alterna de desmetilación no enzimática, basada en la oxidación directa de los grupos metilos generados por los estados oxidativos característicos de esta enfermedad.

Les pratiques pédagogiques exemplaires en sciences de l'information : 21 fiches annotées

Ce rapport constitue une version augmentée d’un premier rapport datant d’août 2005. Les 21 fiches annotées peuvent aussi être consultées individuellement (en format HTML) à partir du « Portail des ressources pédagogiques et disciplinaires en sciences de l'information » accessible à l’adresse : http://www.ebsi.umontreal.ca/clip/

The Beacon, October 21, 2011

Vol. 23, Issue 32, 8 pages

Conference Report of the First Meeting of the Native American and Indigenous Studies Association, 21-23 May 2009, Department of American Indian Studies, University of Minneapolis, Minesota, United States of America

Report provided back by Bronwyn Fredericks on her participation at the First Native American and Indigenous Studies Association Meeting held 21-23 May 2009 in Minnesota, United States of America.

Psychopathology during childhood and adolescence predicts delusional-like experiences in adults : a 21-year birth cohort study

Objective: Community surveys have shown that many otherwise well individuals report delusional-like experiences. The authors examined psychopathology during childhood and adolescence as a predictor of delusional-like experiences in young adulthood. ---------- Method: The authors analyzed prospective data from the Mater-University of Queensland Study of Pregnancy, a birth cohort of 3,617 young adults born between 1981 and 1983. Psychopathology was measured at ages 5 and 14 using the Child Behavior Checklist (CBCL) and at age 14 using the Youth Self-Report (YSR). Delusional-like experiences were measured at age 21 using the Peters Delusional Inventory. The association between childhood and adolescent symptoms and later delusional-like experiences was examined using logistic regression. ---------- Results: High CBCL scores at ages 5 and 14 predicted high levels of delusional-like experiences at age 21 (odds ratios for the highest versus the other quartiles combined were 1.25 and 1.85, respectively). Those with YSR scores in the highest quartile at age 14 were nearly four times as likely to have high levels of delusional-like experiences at age 21 (odds ratio=3.71). Adolescent-onset psychopathology and continuous psychopathology through both childhood and adolescence strongly predicted delusional-like experiences at age 21. Hallucinations at age 14 were significantly associated with delusional-like experiences at age 21. The general pattern of associations persisted when adjusted for previous drug use or the presence of nonaffective psychoses at age 21. ---------- Conclusion: Psychopathology during childhood and adolescence predicts adult delusional-like experiences. Understanding the biological and psychosocial factors that influence this developmental trajectory may provide clues to the pathogenesis of psychotic-like experiences.

Parental physical activity : exploring the role of social support

Objectives: To explore the influence of social support on parental physical activity (PA). Methods: Forty parents (21 mothers, 19 fathers) participated in semistructured individual or group interviews. Data were analyzed using thematic content analysis.---------- Results: Instrumental (eg, providing child care, taking over chores), emotional (eg, encouragement, companionship), and informational support (eg, ideas and advice) as well as reciprocal support (eg, giving as well as receiving support) and autonomy support (eg, respecting one’s choices) are important for parents’ PA behavior. However, having support for being active is not straightforward in that many parents discussed issues that inhibited the facilitative nature of social support for PA performance (eg, guilt in getting help). Conclusions: Results highlight the complex nature of social support in facilitating parental PA.

The National Aboriginal and Torres Strait Islander Women's Health Strategy on Talkin with Tiga Bayles, 98.9 AM National Indigenous Radio Service (NIRS), Wednesday 21 July 2010. (9.00 - 10.00am).

Radio Program. Talkin with Tiga Bayles, 98.9 AM National Indigenous Radio Service (NIRS), 9.00-10.00am, Wednesday 21 July 2010. (1 hour program).----- Bronwyn Fredericks discssed the National Aboriginal and Torres Strait Islander Women’s Health Strategy was launched at the Australian Women’s Health Network (AWHN) National Conference in Hobart on the 19 May 2010. Within this radio interview the background of the Strategy is discussed, funding, who did the consultations and the writing. In the interview Bronwyn Fredericks outlines the process of the Strategy’s development and its uses for the future.----- It is important to note that this Strategy does not replace other national or State and Territory documents which identify priorities and needs. The aim is to supplement existing work.