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Eur Neuropsychopharmacol ; 29(6): 795-802, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31085060


Emotional lability is strongly associated with Attention Deficit Hyperactivity Disorder (ADHD), represents a major source of impairment and predicts poor clinical outcome in ADHD. Given that no specific genes with a role in the co-occurrence of both conditions have been described, we conducted a GWAS of emotional lability in 563 adults with ADHD. Despite not reaching genome-wide significance, the results highlighted genes related with neurotransmission, cognitive function and a wide range of psychiatric disorders that have emotional lability as common clinical feature. By constructing polygenic risk scores on mood instability in the UK Biobank sample and assessing their association with emotional lability in our clinical dataset, we found suggestive evidence of common genetic variation contributing to emotional lability in general population and in clinically diagnosed ADHD. Although not conclusive, these tentative results are in agreement with previous studies that suggest emotion dysregulation as a transdiagnostic construct and highlight the need for further investigation to disentangle the genetic basis of mood instability in ADHD and co-occurring psychiatric disorders.

Eur Psychiatry ; 60: 20-27, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31100609


BACKGROUND: Life expectancy of people with depression is on average 15 years less than that of the general population. This excess of mortality is largely attributed to a deteriorated physical health. Evidence about the association between major depressive disorder (MDD) and physical health is still lacking in some areas. The aim of this study was to explore the association between MDD and physical health-related variables in southern Spain. METHODS: The PISMA-ep is a cross-sectional study based on community-dwelling adult population. Our main outcome was current prevalence of MDD. Independent variables explored were: lifetime prevalence of twenty-one chronic physical conditions (CPCs), anthropometric measures (height, weight, body max index, and hip and waist circumferences), general health status, and medication use. RESULTS: MDD was significantly associated with any CPC (OR = 2.60; 95% CI: 2.01-3.35; p < 0.001). Increases in BMI were associated with MDD in women (OR=1.08; 95% CI: 1.05-1.11; p < 0.001), but not in men (OR=0.99; 95% CI: 0.95-1.05; p = 0.916). Variables associated with MDD in the multivariate model were: female gender, obesity, general health status, cancer, peptic ulcer, tinnitus and vertigo. 21.4% of participants with MDD received antidepressant treatment. CONCLUSIONS: MDD is associated with CPCs, obesity, and increased use of medication. The high rates of comorbidity between MDD and CPCs call for a more holistic management of patients in the clinical practice. The low rate of antidepressant use may be indicating underdiagnosis. Anthropometric variables were differently associated with MDD depending on gender, suggesting a strong influence of psychosocial factors.

Mol Psychiatry ; 2019 Jan 04.
Artigo em Inglês | MEDLINE | ID: mdl-30610198


Attention-deficit/hyperactivity disorder (ADHD) is a severely impairing neurodevelopmental disorder with a prevalence of 5% in children and adolescents and of 2.5% in adults. Comorbid conditions in ADHD play a key role in symptom progression, disorder course and outcome. ADHD is associated with a significantly increased risk for substance use, abuse and dependence. ADHD and cannabis use are partly determined by genetic factors; the heritability of ADHD is estimated at 70-80% and of cannabis use initiation at 40-48%. In this study, we used summary statistics from the largest available meta-analyses of genome-wide association studies (GWAS) of ADHD (n = 53,293) and lifetime cannabis use (n = 32,330) to gain insights into the genetic overlap and causal relationship of these two traits. We estimated their genetic correlation to be r2 = 0.29 (P = 1.63 × 10-5) and identified four new genome-wide significant loci in a cross-trait analysis: two in a single variant association analysis (rs145108385, P = 3.30 × 10-8 and rs4259397, P = 4.52 × 10-8) and two in a gene-based association analysis (WDPCP, P = 9.67 × 10-7 and ZNF251, P = 1.62 × 10-6). Using a two-sample Mendelian randomization approach we found support that ADHD is causal for lifetime cannabis use, with an odds ratio of 7.9 for cannabis use in individuals with ADHD in comparison to individuals without ADHD (95% CI (3.72, 15.51), P = 5.88 × 10-5). These results substantiate the temporal relationship between ADHD and future cannabis use and reinforce the need to consider substance misuse in the context of ADHD in clinical interventions.

Neuropsychopharmacology ; 44(5): 890-897, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30568281


Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent neurodevelopmental disorders in childhood and persists into adulthood in 40-65% of cases. Given the polygenic and heterogeneous architecture of the disorder and the limited overlap between genetic studies, there is a growing interest in epigenetic mechanisms, such as microRNAs, that modulate gene expression and may contribute to the phenotype. We attempted to clarify the role of microRNAs in ADHD at a molecular level through the first genome-wide integrative study of microRNA and mRNA profiles in peripheral blood mononuclear cells of medication-naive individuals with ADHD and healthy controls. We identified 79 microRNAs showing aberrant expression levels in 56 ADHD cases and 69 controls, with three of them, miR-26b-5p, miR-185-5p, and miR-191-5p, being highly predictive for diagnostic status in an independent dataset of 44 ADHD cases and 46 controls. Investigation of downstream microRNA-mediated mechanisms underlying the disorder, which was focused on differentially expressed, experimentally validated target genes of the three highly predictive microRNAs, provided evidence for aberrant myo-inositol signaling in ADHD and indicated an enrichment of genes involved in neurological disease and psychological disorders. Our comprehensive study design reveals novel microRNA-mRNA expression profiles aberrant in ADHD, provides novel insights into microRNA-mediated mechanisms contributing to the disorder, and highlights promising candidate peripheral biomarkers.

Sci Rep ; 8(1): 1881, 2018 01 30.
Artigo em Inglês | MEDLINE | ID: mdl-29382897


Methylphenidate (MPH) is the most frequently used pharmacological treatment in children with attention-deficit/hyperactivity disorder (ADHD). However, a considerable interindividual variability exists in clinical outcome. Thus, we performed a genome-wide association study of MPH efficacy in 173 ADHD paediatric patients. Although no variant reached genome-wide significance, the set of genes containing single-nucleotide polymorphisms (SNPs) nominally associated with MPH response (P < 0.05) was significantly enriched for candidates previously studied in ADHD or treatment outcome. We prioritised the nominally significant SNPs by functional annotation and expression quantitative trait loci (eQTL) analysis in human brain, and we identified 33 SNPs tagging cis-eQTL in 32 different loci (referred to as eSNPs and eGenes, respectively). Pathway enrichment analyses revealed an over-representation of genes involved in nervous system development and function among the eGenes. Categories related to neurological diseases, psychological disorders and behaviour were also significantly enriched. We subsequently meta-analysed the association with clinical outcome for the 33 eSNPs across the discovery sample and an independent cohort of 189 ADHD adult patients (target sample) and we detected 15 suggestive signals. Following this comprehensive strategy, our results provide a better understanding of the molecular mechanisms implicated in MPH treatment effects and suggest promising candidates that may encourage future studies.

Sci Rep ; 7(1): 5407, 2017 Jul 14.
Artigo em Inglês | MEDLINE | ID: mdl-28710364


Attention Deficit Hyperactivity Disorder (ADHD) is a common childhood-onset neurodevelopmental condition characterized by pervasive impairment of attention, hyperactivity, and/or impulsivity that can persist into adulthood. The aetiology of ADHD is complex and multifactorial and, despite the wealth of evidence for its high heritability, genetic studies have provided modest evidence for the involvement of specific genes and have failed to identify consistent and replicable results. Due to the lack of robust findings, we performed gene-wide and pathway enrichment analyses using pre-existing GWAS data from 607 persistent ADHD subjects and 584 controls, produced by our group. Subsequently, expression profiles of genes surpassing a follow-up threshold of P-value < 1e-03 in the gene-wide analyses were tested in peripheral blood mononucleated cells (PBMCs) of 45 medication-naive adults with ADHD and 39 healthy unrelated controls. We found preliminary evidence for genetic association between RNF122 and ADHD and for its overexpression in adults with ADHD. RNF122 encodes for an E3 ubiquitin ligase involved in the proteasome-mediated processing, trafficking, and degradation of proteins that acts as an essential mediator of the substrate specificity of ubiquitin ligation. Thus, our findings support previous data that place the ubiquitin-proteasome system as a promising candidate for its involvement in the aetiology of ADHD.

Sex., salud soc. (Rio J.) ; (18): 140-160, Sep-Dec/2014. tab
Artigo em Espanhol | LILACS | ID: lil-733049


El presente artículo pone en discusión el consumo de pastillas para crear erecciones a través de medicamentos como Viagra y otros similares, principalmente entre hombres jóvenes de Costa Rica. Aunque no existen cifras contundentes de cuántos varones hacen uso recreacional de este tipo de fármaco, la temática sigue siendo poco explorada en América Latina. Se toma como marco de referencia la teoría foucaltiana y se analizan entrevistas realizadas a hombres consumidores de estas pastillas, así como extractos de comentarios sobre las angustias eréctiles masculinas escritos en un blog. Surge del análisis la idea de que en la actualidad, el pene es representado como un trabajador potencialmente cansado y enfermo, necesitado de ayudas externas para poder "laborar" adecuadamente. Los discursos que se presentan por medio de casas farmacéuticas así como de hombres de diferentes edades, muestran al llamado miembro viril como una parte del cuerpo que necesita asistencias y que obtiene modelos para actuar a través de la pornografía, los video-juegos y/o las caricaturas...

O presente artigo coloca em discussão o consumo de pílulas para criar ereções através de medicamentos como o Viagra e outros parecidos, principalmente em homens jovens da Costa Rica. Embora não existam números contundentes de quantos homens fazem uso recreativo deste tipo de fármaco, esta temática continua sendo pouco explorada na América Latina. Toma-se como marco de referência a teoria foucaultiana, e se analisam entrevistas realizadas com homens consumidores destas pílulas assim como trechos de comentários sobre as angústias eréteis masculinas escritos em um blog. Depreende-se da análise a ideia de que hoje em dia o pênis é representado como um trabalhador potencialmente cansado e doente, necessitado de ajudas externas para poder "trabalhar" adequadamente. Os discursos que se apresentam através de farmácias assim como de homens de diferentes idades mostram o chamado membro viril como uma parte do corpo que necessita de assistências e que obtém modelos para atuar através da pornografia, dos vídeos-jogos e/ou das caricaturas...

This article addresses the use of drugs like Viagra and others of the kind to produce erections, mainly among young men from Costa Rica. Although there is no hard data on how many men make recreational use of these drugs, this issue remains largely unexplored in Latin America. This article takes Foucauldian theory as its framework to analyse interviews with male consumers of these pills, and extracts of comments written on a blog about male erectile anxieties. From the analysis emerges the idea that, today, the penis is represented as a potentially tired and sick worker, needing outside help to "labor" properly. Discourses presented by pharmaceutical companies as well, as men of different ages, show the so-called 'virile member' as a part of the body that needs assistance and that gets its action models from pornography, video games, or cartoons...

Humanos , Masculino , Comportamento , Homens , Preparações Farmacêuticas , Sexualidade , Costa Rica/etnologia
Rev. costarric. salud pública ; 20(2): 107-118, jul.-dic. 2011. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-646520


Realizar un balance histórico de los principales hechos que han ocurrido al cabo de diez años de haberse aprobado el Decreto para plantear interrogantes de cara a las nuevas demandas sociales en esta materia. Método: El trabajo está estructurado en tres partes: en la primera se exponen los principales hechos que antecedieron la aprobación del Decreto y que contribuyeron a dar cuenta de los cuestionamientos que se le hacían en aquel entonces a la aprobación del mismo. En la segunda se presenta una descripción de algunas investigaciones que se generaron en el ámbito académico, a la luz de la aprobación del Decreto y finalmente se analizan algunos datos estadísticos del comportamiento que han tenido las esterilizaciones de hombres y mujeres del 2000 al 2008. Resultado: Investigaciones han mostrado los motivos que han llevado a las mujeres a tomar esta decisión, no así para los hombres cuyos motivos están pendientes de investigar. En el periodo 2000-2008, las salpingectomías experimentaron al inicio un incremento que luego ha tendido a disminuir. No obstante persisten desafíos en salud reproductiva tales como alto número de embarazos, abortos, incremento de VIH. Discusión: El Decreto Ejecutivo 27913-S, aprobado en Costa Rica en el año 1999, ha constitutito un importante logro en materia de derechos reproductivos, ya que ha permitido la democratización del acceso a las operaciones de esterilización femeninas y masculinas...

Take stock of the major historical events that have occurred within ten years after the adoption decree to raise questions in the face of new social demands in this area. Methods: The work is structured in three parts: the first presents the main events that preceded the approval of the decree and that contributed to the account of the questions put to him at the time of approval. The second is a description of some investigations that were generated in academia, in the light of the decree and finally discusses some of the behavior statistics that have sterilizations of men and women from 2000 to 2008. Results: The grounds that have led women to make this decision, but less so for men whose motives have yet to be investigated. Conclusions from the analyzed period show that salpingectomy procedures increased at the beginning but then started to decrease, unlike the situation of men. Although clearly important, it is considered that challenges such as high number of pregnancies, abortions, and increasing HIV infections remain in reproductive health. Discussion: Executive Decree 27913-S -adopted in Costa Rica in 1999- has been a major achievement in terms of reproductive rights, as it has broadened the possibilities for men and women access to sterilization...

Humanos , Masculino , Feminino , Esterilização Reprodutiva , Direitos da Mulher , Costa Rica