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There is evidence for an association between structural variants in genes for lissencephaly, which are involved in neuronal migration, and prefrontal cognitive deficits in schizophrenia and bipolar patients. On the basis of these intriguing findings, we analyzed 16 markers located in the lissencephaly critical region (LCR in chromosome 17p13.3) in 124 schizophrenic, 56 bipolar, and 141 healthy individuals. All recruits were from a Spanish population isolate of Basque origin that is characterized by low genetic heterogeneity. In addition, we examined whether structural genomic variations in the LCR were associated with executive cognition. Twenty-three patients (12.8%), but none of the controls, showed structural variants (deletions and insertions) in either of two markers related with lissencephaly (D17S1566 on tumor suppressor gene TP53: tumor protein p53 and D17S22 on SMG6 gene: Smg-6 homolog, nonsense mediated mRNA decay factor- Caenorhabditis elegans). These patients performed significantly worse in the Wisconsin Card Sorting Test-Categories in comparison with patients without such variations in lissencephaly-related genes. The presence of structural variants was related to completed categories, and accounted for 10.7% of the variance (P=0.001). Finally, logistic regression showed that poor Wisconsin Card Sorting Test-Categories performance was the only predictor of belonging to the positive LCR variations group. These new findings provide further evidence for the association between some lissencephaly-related genes and both schizophrenia and bipolar disorder, and influence on frontal executive functioning.

These results suggest a role of CAPN5 gene in PCOS susceptibility in humans. Moreover, novel candidate risk alleles have been identified, within CAPN5 gene, which could be associated with important phenotypic and prognosis differences observed in PCOS patients.

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ResumenSe pretende conocer las estrategias de afrontamiento que utilizan los padres de niños con cáncer ante al reto que supone esta enfermedad. Se ha utilizado una metodología de investigación grupal y cualitativa.La muestra la constituyen 14 madres/padres cuyos hijos hace más de dos años que han contraído la enfermedad. Se ha comprobado que los padres utilizan una gran variedad de estrategias. Unas son activas: centrada en el problema (adecuación a la acción y calma, entereza y reflexión); regulación afectiva; bús-queda de información; adquisición de apoyo social, instrumental, informativo y/o emocional; reevaluación o reestructuración cognitiva y pensamiento positivo; y distracción. Otras son pasivas: rumiación, huida/evitación, y aislamiento social. El conocimiento de estas estrategias es de gran utilidad para los profesionales de la educación en la comprensión de las reacciones de los padres, en la comunicación e interrelación con ellos y en la orientación familiar.Palabras clave: Oncología pediátrica; familia; orientación familiar; estrategias de afrontamiento; pedagogía hospitalaria. AbstractIt aims to determine the coping strategies used by parents of children with cancer. We used a research methodology, that is both group-based (self-help groups) and qualitative (discourse analysis of participants in group sessions).The sample is composed of 14 parents whose children contracted the disease more than two years before. There is evidence that parents use a variety of strategies to meet the challenge of disease of their children. Some are active: problem solving, adapting to circumstances and calm, courage, reflection, affect regulation, searching for information, seeking and acquiring social support, instrumental, informational and/or emotional, reappraisal or cognitive restructuring, positive thinking, and distraction. Others are passive: rumination, escape/avoidance, and social withdrawal. Knowledge of these strategies is useful to professionals of education to understand the reactions of parents, to communicate and interact with them and for family counseling.