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Bulbena A.,Hospital del Mar | Bulbena A.,Autonomous University of Barcelona | Pailhez G.,Autonomous University of Barcelona | Pailhez G.,INAD Hospital del Mar | And 5 more authors.
General Hospital Psychiatry | Year: 2011

Objective: The objective of the study was to assess whether joint hypermobility syndrome (JHS) is a risk factor for developing anxiety disorders using a 15-year prospective cohort study. Method: The initial cohort recruited 158 subjects aged 16 to 20 years from the general population in a Spanish rural town. The cohort was studied at baseline and at a 15-year follow-up. Joint hypermobility syndrome was assessed using Beighton's criteria, and the psychiatric disorders were assessed using the Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Disorders. Subjects with anxiety disorders at baseline were excluded from the follow-up. Results: Joint hypermobility syndrome at baseline was found in 29 of 158 subjects (21.1%). Cumulative incidence of panic/agoraphobia disorder at follow-up, as main diagnosis, was significantly higher for the JHS group (41.4%) than for the control group (1.9%), with a relative risk of 22.3 [95% confidence interval (CI) 4.6-108.7, P<0001] (Number Needed to Treat [NNT] 3, 95% CI 2.9-2.3). Incidence of social phobia and simple phobia was also significantly higher for the JHS group [relative risk (RR)=6.52, 95% CI 1.7-24.2, P<001 and RR=3.31, 95% CI 1.1-9.6, P=02, respectively]. Moreover, anxiolytic drug use was nearly fourfold higher among JHS compared to non-JHS subjects. Conclusion: Joint hypermobility syndrome was associated with higher risk of developing anxiety disorders. If replicated, these findings may give enhanced value to JHS assessment in clinical and general population studies. © 2011 Elsevier Inc.


Pique-Regi R.,University of Southern California | Pique-Regi R.,Childrens Hospital Los Angeles | Caceres A.,Center for Research in Environmental Epidemiology | Caceres A.,Institute Municipal dInvestigacio Medica IMIM | And 3 more authors.
BMC Bioinformatics | Year: 2010

Background: Genome-wide association studies (GWAS) using Copy Number Variation (CNV) are becoming a central focus of genetic research. CNVs have successfully provided target genome regions for some disease conditions where simple genetic variation (i.e., SNPs) has previously failed to provide a clear association.Results: Here we present a new R package, that integrates: (i) data import from most common formats of Affymetrix, Illumina and aCGH arrays; (ii) a fast and accurate segmentation algorithm to call CNVs based on Genome Alteration Detection Analysis (GADA); and (iii) functions for displaying and exporting the Copy Number calls, identification of recurrent CNVs, multivariate analysis of population structure, and tools for performing association studies. Using a large dataset containing 270 HapMap individuals (Affymetrix Human SNP Array 6.0 Sample Dataset) we demonstrate a flexible pipeline implemented with the package. It requires less than one minute per sample (3 million probe arrays) on a single core computer, and provides a flexible parallelization for very large datasets. Case-control data were generated from the HapMap dataset to demonstrate a GWAS analysis.Conclusions: The package provides the tools for creating a complete integrated pipeline from data normalization to statistical association. It can effciently handle a massive volume of data consisting of millions of genetic markers and hundreds or thousands of samples with very accurate results. © 2010 Pique-Regi et al; licensee BioMed Central Ltd.


Caceres A.,Institute Municipal dInvestigacio Medica IMIM | Sindi S.S.,Brown University | Raphael B.J.,Brown University | Caceres M.,Autonomous University of Barcelona | And 3 more authors.
BMC Bioinformatics | Year: 2012

Background: Polymorphic inversions are a source of genetic variability with a direct impact on recombination frequencies. Given the difficulty of their experimental study, computational methods have been developed to infer their existence in a large number of individuals using genome-wide data of nucleotide variation. Methods based on haplotype tagging of known inversions attempt to classify individuals as having a normal or inverted allele. Other methods that measure differences between linkage disequilibrium attempt to identify regions with inversions but unable to classify subjects accurately, an essential requirement for association studies.Results: We present a novel method to both identify polymorphic inversions from genome-wide genotype data and classify individuals as containing a normal or inverted allele. Our method, a generalization of a published method for haplotype data 1, utilizes linkage between groups of SNPs to partition a set of individuals into normal and inverted subpopulations. We employ a sliding window scan to identify regions likely to have an inversion, and accumulation of evidence from neighboring SNPs is used to accurately determine the inversion status of each subject. Further, our approach detects inversions directly from genotype data, thus increasing its usability to current genome-wide association studies (GWAS).Conclusions: We demonstrate the accuracy of our method to detect inversions and classify individuals on principled-simulated genotypes, produced by the evolution of an inversion event within a coalescent model 2. We applied our method to real genotype data from HapMap Phase III to characterize the inversion status of two known inversions within the regions 17q21 and 8p23 across 1184 individuals. Finally, we scan the full genomes of the European Origin (CEU) and Yoruba (YRI) HapMap samples. We find population-based evidence for 9 out of 15 well-established autosomic inversions, and for 52 regions previously predicted by independent experimental methods in ten (9+1) individuals 34. We provide efficient implementations of both genotype and haplotype methods as a unified R package inveRsion. © 2012 Cáceres et al; licensee BioMed Central Ltd.


Caceres A.,Center for Research in Environmental Epidemiology | Caceres A.,Institute Municipal dInvestigacio Medica IMIM | Basagana X.,Center for Research in Environmental Epidemiology | Basagana X.,Institute Municipal dInvestigacio Medica IMIM | And 4 more authors.
Statistics in Medicine | Year: 2010

We illustrate the use of multiple correspondence analysis (MCA) to correct for population stratification of copy number alteration data. In addition, we propose the use of multiple correspondence discriminant analysis (MCDA) to identify an optimal set of copy number variants (CNVs) that correctly infers the population stratification of a CNV map. Within MCDA, we highlight the novel use of correlation with class directions for variable ranking. We found a set of 20 CNVs with 98 per cent predictability in a CNV map of the HapMap populations. On this sample, the selection of variables based on centroid ranking outperformed the most common practice of ranking variables with their correlation to the principal axes. Copyright © 2010 John Wiley & Sons, Ltd.


Gonzalez J.R.,Center for Research in Environmental Epidemiology | Gonzalez J.R.,Institute Municipal dInvestigacio Medica IMIM | Gonzalez J.R.,CIBER ISCIII | Rodriguez-Santiago B.,UPF | And 10 more authors.
BMC Bioinformatics | Year: 2011

Background: Mosaicism for copy number and copy neutral chromosomal rearrangements has been recently identified as a relatively common source of genetic variation in the normal population. However its prevalence is poorly defined since it has been only studied systematically in one large-scale study and by using non optimal ad-hoc SNP array data analysis tools, uncovering rather large alterations (> 1 Mb) and affecting a high proportion of cells. Here we propose a novel methodology, Mosaic Alteration Detection-MAD, by providing a software tool that is effective for capturing previously described alterations as wells as new variants that are smaller in size and/or affecting a low percentage of cells.Results: The developed method identified all previously known mosaic abnormalities reported in SNP array data obtained from controls, bladder cancer and HapMap individuals. In addition MAD tool was able to detect new mosaic variants not reported before that were smaller in size and with lower percentage of cells affected. The performance of the tool was analysed by studying simulated data for different scenarios. Our method showed high sensitivity and specificity for all assessed scenarios.Conclusions: The tool presented here has the ability to identify mosaic abnormalities with high sensitivity and specificity. Our results confirm the lack of sensitivity of former methods by identifying new mosaic variants not reported in previously utilised datasets. Our work suggests that the prevalence of mosaic alterations could be higher than initially thought. The use of appropriate SNP array data analysis methods would help in defining the human genome mosaic map. © 2011 González et al; licensee BioMed Central Ltd.


Farriols C.,Institute Municipal dInvestigacio Medica IMIM | Ferrandez O.,Hospital Pharmacy Service | Planas J.,Institute Municipal dInvestigacio Medica IMIM | Ortiz P.,Hospital Pharmacy Service | And 3 more authors.
Journal of Pain and Symptom Management | Year: 2012

Context: Psychiatric disorders are frequently underdiagnosed and undertreated in advanced cancer patients. Objectives: To assess changes in the prescription of psychotropic drugs in terminally ill patients. Methods: All patients with advanced disease receiving palliative care between 2002 and 2009 were eligible. The consumption of benzodiazepines, antipsychotics, and antidepressants for the years 2002, 2006, and 2009 was compared. Data on the percentage and profile of psychotropic drugs prescribed were collected. Results: The study population included 840 patients (241 in 2002, 274 in 2006, and 325 in 2009). The percentage of patients treated with psychotropic drugs increased from 82.2% in 2002 to 90.2% in 2009 (P = 0.006) and the mean number of drugs per patient from 1.66 in 2002 to 2.16 in 2006 (P = 0.003), and to 2.35 in 2009 (P < 0.001). Benzodiazepines were prescribed to 72.6% of patients in 2002 and 84% in 2009 (P = 0.001), with lorazepam and midazolam as the most frequently used medications. The use of antipsychotics increased from 26.1% in 2002 to 37.2% in 2006 (P = 0.007) and to 40% in 2009 (P = 0.001), with haloperidol and risperidone as the most commonly prescribed. Antidepressants were prescribed to 17.8% in 2002, 28.1% in 2006 (P = 0.006), and 27.1% in 2009 (P = 0.010), with mirtazapine, citalopram, escitalopram, and duloxetine as the most frequent. Conclusion: Between 2002 and 2009, there was a significant increase in the use of psychotropic drugs and a change in the profile of drugs prescribed. © 2012 U.S. Cancer Pain Relief Committee Published by Elsevier Inc. All rights reserved.


Mongeau R.,French Institute of Health and Medical Research | Mongeau R.,University Pierre and Marie Curie | Martin C.B.P.,French Institute of Health and Medical Research | Martin C.B.P.,University Pierre and Marie Curie | And 9 more authors.
Journal of Neurochemistry | Year: 2010

Stress is known to activate the central 5-hydroxytryptamine (5-HT) system, and this is probably part of a coping response involving several 5-HT receptors. Although 5-HT2C receptors are well known to be implicated in anxiety, their participation in stress-induced changes had not been investigated in parallel at both behavioral and neurochemical levels. We show here that the preferential 5-HT2C receptor agonist, m-chlorophenylpiperazine, as well as restraint stress increased anxiety in the mouse social interaction test. The selective 5-HT2C receptor antagonist, SB 242,084, prevented both of these anxiogenic effects. Restraint stress increased 5-HT turnover in various brain areas, and this effect was prevented by the 5-HT2B/2C receptor agonist RO 60-0175 (1 mg/kg), but not the preferential 5-HT2A agonist 1-(2,5-dimethoxy-4-iodophenyl)-2- aminopropane (1 mg/kg), and in contrast potentiated by SB 242,084 (1 mg/kg), which also blocked the effect of RO 60- 0175. Using microdialysis, RO 60-0175 was shown to inhibit cortical 5-HT overflow in stressed mice when 5-HT reuptake was blocked locally. Chronic paroxetine prevented both the anxiogenic effect of m-chlorophenylpiperazine and the inhibitory effect of RO 60-0175 on locomotion and stress-induced increase in 5-HT turnover. The anxiolytic action of chronic paroxetine might be associated with an enhancement of 5-HT neurotransmission caused by a decreased 5-HT 2C receptor-mediated inhibition of stress-induced increase in 5-HT release. © 2010 International Society for Neurochemistry.


Friguls B.,Institute Municipal dInvestigacio Medica IMIM | Friguls B.,Autonomous University of Barcelona | Friguls B.,RETIC Instituto Carlos III | Joya X.,Institute Municipal dInvestigacio Medica IMIM | And 13 more authors.
Addiction | Year: 2012

Aims This study aims to estimate the prevalence of drug use by pregnant women living in Ibiza, using structured interviews and biomarkers in maternal hair. In addition, the potentially detrimental effects of maternal drug abuse on their newborns were investigated. Ibiza has a large international night-life resort associated with clubs, music and use of recreational drugs. Design, setting and participants Hair samples were collected prospectively from January to March 2010 from a cohort of consecutive mothers after giving birth in the Hospital Can Misses in Ibiza. Measurements Opiates, cocaine, cannabis, methadone, amphetamines, 3,4-methylenedioxymethamphetamine (MDMA) and their metabolites were detected in a 3-cm-long proximal segment of maternal hair corresponding to the last trimester of pregnancy by gas chromatography coupled to mass spectrometry (n=107). Data on socio-demographic characteristics and on tobacco, alcohol, drugs of prescription and drugs of abuse consumption during pregnancy were collected using a structured questionnaire. Findings Hair analysis showed an overall 16% positivity for drugs of abuse in the third trimester of pregnancy, with a specific prevalence of cannabis, cocaine, MDMA and opiates use of 10.3, 6.4, 0.9 and 0%, respectively. In the questionnaires, only 1.9% of mothers declared using drugs of abuse during pregnancy. Gestational drug of abuse consumption was associated with active tobacco smoking, a higher number of smoked cigarettes and the mother being Spanish. Conclusions Illicit drug use is substantially under-reported among pregnant women living in Ibiza, particularly among Spanish nationals. Voluntary, routine objective biological toxicology screening should be considered as part of routine examinations in antenatal clinics on this Mediterranean island. © 2012 The Authors, Addiction © 2012 Society for the Study of Addiction.


Mendez-Vasquez R.I.,Bibliometria | Sunen-Pinyol E.,Bibliometria | Cervello R.,Institute Municipal dInvestigacio Medica IMIM | Cami J.,University Pompeu Fabra
Revista Espanola de Cardiologia | Year: 2012

Introduction and objectives: The abundance of macro-level studies on scientific production in the field of biomedicine in Spain only serves to highlight the scarcity of micro-level studies reporting on the activity of research groups-the basic units of the science and technology system. This lack of information may well be explained by the ambiguity inherent in the "research group" concept and by the existence of synonymous and homonymous bibliographic signatures that confuse the correspondence between these and the real authors. The aim of this study is to describe bibliographic production in cardio-cerebrovascular research and identify research groups active in the field. Methods: Using Thomson-Reuters' National Citation Report for Spain database and the National Library of Medicine Medical Subject Headings thesaurus, we defined the field of cardio-cerebrovascular research and identified research groups through coauthorship analysis supported by the opinions of an expert. Groups were described in terms of bibliometric indicators of activity and visibility. Results: Ninety-three groups made up of 772 different authors were identified from an initial subset of 6540 publications on cardio-cerebrovascular research. The groups we identified came mainly from the healthcare sector and the universities and were mostly located in the autonomous regions of Catalonia and the Community of Madrid. The scientific production attributable to the groups presented indicators of visibility above the mean for biomedicine. Conclusions: Collaboration between the healthcare sector and the universities dominated cardio-cerebrovascular research, although international collaboration rates were poor, standing at levels below the mean for biomedicine. © 2012 Sociedad Española de Cardiología. Published by Elsevier España, S.L. All rights reserved.


Trigo J.M.,University Pompeu Fabra | Martin-Garcia E.,University Pompeu Fabra | Berrendero F.,University Pompeu Fabra | Robledo P.,University Pompeu Fabra | And 2 more authors.
Drug and Alcohol Dependence | Year: 2010

Drug addiction is a chronic brain disorder leading to complex adaptive changes within the brain reward circuits that involve several neurotransmitters. One of the neurochemical systems that plays a pivotal role in different aspects of addiction is the endogenous opioid system (EOS). Opioid receptors and endogenous opioid peptides are largely distributed in the mesolimbic system and modulate dopaminergic activity within these reward circuits. Chronic exposure to the different prototypical drugs of abuse, including opioids, alcohol, nicotine, psychostimulants and cannabinoids has been reported to produce significant alterations within the EOS, which seem to play an important role in the development of the addictive process. In this review, we will describe the adaptive changes produced by different drugs of abuse on the EOS, and the current knowledge about the contribution of each component of this neurobiological system to their addictive properties. © 2009 Elsevier Ireland Ltd.

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