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Background: The ESR1 AGATA haplotype is composed of five markers located within introns 5 and 6 of the human oestrogen receptor 1 (ESR1) gene. This haplotype has been studied in several male urogenital tract anomalies and male infertility. In one of these studies, a deviation from Hardy-Weinberg equilibrium (DHW) was found for the ESR1 AGATA marker rs3020375 in two groups of healthy controls. In the present study, we investigated whether the observed DHW is caused by structural variants present within the ESR1 gene. Participants: 229 family units achieving pregnancy through assisted reproductive technologies (n = 129) or by natural means (n = 100), 2465 general Spanish population controls and 162 men with idiopathic infertility. Main outcome measurements: Segregation analyses of genetic markers in family units and case-control genetic association studies. Results: We identified a new interstitial deletion of 2244 base pairs within intron 6 of the human ESR1 gene as the cause for the observed DHW. This new variant presents a 10% allelic frequency in the general Spanish population and it is associated with idiopathic male infertility (OR = 1.51; p = 0.03). The percentage of infertile couples in which both members carried the ESR1 deletion (10.08%) was also a higher than expected value of 6% (p=0.03). Conclusions: We have characterised a novel structural variation in human ESR1 gene. The available data indicate a deleterious action of the ESR1 deletion in both male and couple fertility. The potential effects of this deletion on other oestrogen-related diseases need to be determined. [ABSTRACT FROM AUTHOR]

Presents a study which analyzed the internationalization process of firms in Castilla y Leon in Spain. Methodology of the study; Results and discussions; Conclusions.

An abstract of the article "Prenatal diagnosis of right aortic arch (RAA): clinical experience in two Spanish hospitals," by C. Martinez-Payo, J. Sancho Sauco, R. Saviron Cornudella, J. Marqués Galan, D. Lerma Puertas, M. Ruiz de Azúa1, and Y. Nieto Jimenez is presented.

GOLPH2 gene SNP variants Rs10868366 and Rs7019241 were reported to decrease the risk of Alzheimer's disease in a recent Whole Genome Association Study. We have investigated these genetic variants in 2470 individuals from Spain to conduct an independent replication study of the proposed SNP markers. We found no evidence of association between GOLPH2 markers and susceptibility to Alzheimer's disease in our series. We concluded that GOLPH2 gene does not contribute to risk of disease in this study sample.

Sleep disturbances are a common finding in the clinical practice of addictions. Clinical management of insomnia is known to influence the prognosis of the addiction and the success of the detoxication process itself (Peles, Schreiber, and Adelson, 2006; Pace-Schott, Stickgold, Muzur, Wigren, Ward, et al., 2005; Bootzin and Stevens, 2005; Maher, 2004). Thus the relevance of controlling sleep disturbances from the very beginning of the detoxification process. However, managing this situation is often not easy for the clinician. The classical option of using sedating-hypnotic drugs to treat insomnia in polydrug users presents objections: the tolerance associated to high doses of benzodiacepines chronic abuse in many drug addicts obliges the clinician to use high doses of hypnotics, both in acute detoxification and the following de-habituation, with the associated resulting risk of dependence and undesirable side effects (excessive sedation, nocturnal enuresis, ataxia, etc).

Background: A specific haplotype (AGATA) in the estrogen receptor alpha (ER1) gene was recently described as a new risk factor for cryptorchidism in the Japanese population. In this ethnic group, single-nucleotide polymorphism 12 (SNP12) was concluded to be the tag SNP for the AGATA haplotype., Materials and Methods: A large group of patients (total number=335) and controls (total number=567) of two Caucasian populations were analysed for the AGATA haplotype and SNP12 to verify whether this genetic variant and its tag SNP were associated with cryptorchidism or with severe spermatogenic failure., Results: We confirm that SNP12 is the tag SNP for the AGATA haplotype also in Caucasians. However, in contrast with the Japanese population we found a protective effect for ESR1 SNP12 on cryptorchidism in the Italian population. No association between SNP12 and severe spermatogenic disturbances was observed., Conclusions: The observed associations (although with opposite effect) with cryptorchidism encourage future studies on independent cases and controls from different ethnic and geographic origins. On the other hand, in contrast with other ESR1 polymorphisms, SNP12 polymorphism is not associated with severe male factor infertility in two independent European population.