Examinando por Autor "Pineda, David A."
Mostrando 1 - 4 de 4
Resultados por página
Opciones de ordenación
Ítem ADGRL3 (LPHN3) variants predict substance use disorder(Nature Research, 2019-01) Arcos-Burgos, Mauricio; Vélez, Jorge I.; Martinez, Ariel F.; Ribasés, Marta; Ramos-Quiroga, Josep A.; Sánchez-Mora, Cristina; Richarte, Vanesa; Roncero, Carlos; Cormand, Bru; Fernández-Castillo, Noelia; Casas, Miguel; Lopera, Francisco; Pineda, David A.; Palacio, Juan D.; Acosta-López, Johan E.; Cervantes-Henriquez, Martha L.; Sánchez-Rojas, Manuel G.; Puentes-Rozo, Pedro J.; Molina, Brooke S. G.; MTA Cooperative Group; Boden, Margaret T.; Wallis, Deeann; Lidbury, Brett; Newman, Saul; Easteal, Simon; Swanson, James; Patel, Hardip; Volkow, Nora; Acosta, Maria T.; Castellanos, Francisco X.; de Leon, Jose; Mastronardi, Claudio A.; Muenke, MaximilianGenetic factors are strongly implicated in the susceptibility to develop externalizing syndromes such as attentiondeficit/ hyperactivity disorder (ADHD), oppositional defiant disorder, conduct disorder, and substance use disorder (SUD). Variants in the ADGRL3 (LPHN3) gene predispose to ADHD and predict ADHD severity, disruptive behaviors comorbidity, long-term outcome, and response to treatment. In this study, we investigated whether variants within ADGRL3 are associated with SUD, a disorder that is frequently co-morbid with ADHD. Using family-based, case-control, and longitudinal samples from disparate regions of the world (n = 2698), recruited either for clinical, genetic epidemiological or pharmacogenomic studies of ADHD, we assembled recursive-partitioning frameworks (classification tree analyses) with clinical, demographic, and ADGRL3 genetic information to predict SUD susceptibility. Our results indicate that SUD can be efficiently and robustly predicted in ADHD participants. The genetic models used remained highly efficient in predicting SUD in a large sample of individuals with severe SUD from a psychiatric institution that were not ascertained on the basis of ADHD diagnosis, thus identifying ADGRL3 as a risk gene for SUD. Recursive-partitioning analyses revealed that rs4860437 was the predominant predictive variant. This new methodological approach offers novel insights into higher order predictive interactions and offers a unique opportunity for translational application in the clinical assessment of patients at high risk for SUD.Ítem Enfermedad de Huntington: una aproximación desde la investigación(Ediciones Universidad Simón Bolívar, 2021) Sánchez-Rojas, Manuel; Puentes Rozo, Pedro; Pineda, David A.; Acosta-López, Johan; Mejía-Segura, Elsy; Cervantes-Henríquez, Martha; Martínez-Banfi, Martha; Ahmad, Mostapha; Rosa Ríos Anillo, Margarita; Pineda-Alhucema, Wilmar; Noguera-Machacón, Luz M.; De la Hoz, Moisés; Jiménez-Figueroa, Giomar; Escudero-Cabarcas, Johana; Arcos-Burgos, Mauricio; Vélez, Jorge I.; Montoya Grajeda, José; Rodríguez Gómez, Odette; Ruvalcaba Medina, Anareli; Hernández Panduro, Carlos; De la Luz Escalante, Horacio; Ordeñana Xicotencatl, Letty; Carmona Rúa, Geraldine; Vergara Ortega, Katiana; Muñoz, Yulieth; Chacón, Tatiana; España Roa, Siria; Sánchez-Barrios, CristianLa Enfermedad de Huntington es una enfermedad huérfana, con sintomatología descrita en su etapa clínica, pero con manifestaciones psiquiátricas en etapa prodrómica aun no formalmente caracterizadas. Objetivo: Identificar los principales trastornos mentales en pacientes en la etapa prodrómica de la Enfermedad de Huntington, así como los instrumentos utilizados para la captación de estos síntomas. Materiales y Métodos: Se realizó la revisión de acuerdo con la declaración PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses). La búsqueda se realizó en las bases de datos de Medline, Scopus, Medscape y en el portal web del estudio PREDICT-HD. Se usaron MeSH (Medical Subject Headings) y términos comunes para formular las estrategias de búsqueda. Resultados: De 159 estudios revisados, 4 fueron incluidos por la descripción de los instrumentos, los cuales fueron realizados en The University of Iowa, USA, pertenecientes al estudio PREDICT-HD (estudio observacional longitudinal diseñado para identificar marcadores neurobiológicos antes del inicio de la sintomatología motora de la EH); Se encontraron que la fatiga o baja energía está más relacionada con la alteración de la capacidad funcional, que la depresión en pacientes pre-HD; adicionalmente, los síntomas depresivos e historia de intento de suicidio se identificaron como factores de riesgo elevado en pacientes más cercanos al diagnóstico motor, de la misma manera la inconciencia incrementa en la progresión de HD durante el estado prodrómico en estos grupos. Conclusiones: Actualmente no existe un instrumento validado que contenga una amplia sensibilidad y especificidad a nivel mundial para captar manifestaciones psiquiátricas en la etapa presintomática de la enfermedad y que esta patología a pesar de tener una gran sintomatología descrita en su etapa clínica no presenta formalmente caracterizadas manifestaciones psiquiátricas en la etapa pre-HD.Ítem Genetic variation underpinning ADHD risk in a caribbean community(Published by MDP, 2019) Puentes-Rozo, Pedro J.; Acosta-López, Johan E.; Cervantes-Henríquez, Martha L.; Martínez-Banfi, Martha L.; Mejia-Segura, Elsy; Sánchez-Rojas, Manuel; Anaya-Romero, Marco E.; Acosta-Hoyos, Antonio; García-Llinás, Guisselle A.; Mastronardi, Claudio A.; Pineda, David A.; Castellanos, F. Xavier; Arcos-Burgos, Mauricio; Vélez, Jorge I.Attention Deficit Hyperactivity Disorder (ADHD) is a highly heritable and prevalent neurodevelopmental disorder that frequently persists into adulthood. Strong evidence from genetic studies indicates that single nucleotide polymorphisms (SNPs) harboured in the ADGRL3 (LPHN3), SNAP25, FGF1, DRD4, and SLC6A2 genes are associated with ADHD. We genotyped 26 SNPs harboured in genes previously reported to be associated with ADHD and evaluated their potential association in 386 individuals belonging to 113 nuclear families from a Caribbean community in Barranquilla, Colombia, using family-based association tests. SNPs rs362990-SNAP25 (T allele; p = 2.46 10x-4), rs2282794-FGF1 (A allele; p = 1.33 10x-2), rs2122642-ADGRL3 (C allele, p = 3.5 10x-2), and ADGRL3 haplotype CCC (markers rs1565902-rs10001410-rs2122642, OR = 1.74, Ppermuted = 0.021) were significantly associated with ADHD. Our results confirm the susceptibility to ADHD conferred by SNAP25, FGF1, and ADGRL3 variants in a community with a significant African American component, and provide evidence supporting the existence of specific patterns of genetic stratification underpinning the susceptibility to ADHD. Knowledge of population genetics is crucial to define risk and predict susceptibility to disease.Ítem Prepotent response inhibition and reaction times in children with attention deficit/hyperactivity disorder from a Caribbean community(Springer Vienna, 2017-12) Jiménez-Figueroa, Giomar; Ardila-Duarte, Carlos; Pineda, David A.; Acosta-López, Johan E.; Cervantes-Henríquez, Martha L.; Pineda-Alhucema, Wilmar; Cervantes-Gutiérrez, Jeimys; Quintero-Ibarra, Marisol; Sáchez-Rojas, Manuel; Vélez, Jorge I.; Puentes-Rozo, Pedro J.Abstract Impairment in inhibitory control has been postulated as an underlying hallmark of attention deficit/hyperactivity disorder (ADHD), which can be utilized as a quantitative trait for genetic studies. Here, we evaluate whether inhibitory control, measured by simple automatized prepotent response (PR) inhibition variables, is a robust discriminant function for the diagnosis of ADHD in children and can be used as an endophenotype for future genetic studies. One hundred fifty-two school children (30.9% female, 67.8% with ADHD) were recruited. The ADHD checklist was used as the screening tool, whilst the DSM-IV Mini International Neuropsychiatry Interview, neurologic interview and neurologic examination, and the WISC III FSIQ test were administered as the gold standard procedure to assert ADHD diagnosis. A Go/No-Go task using a naturalistic and automatized visual signal was administered. A linear multifactor model (MANOVA) was fitted to compare groups including ADHD status, age, and gender as multiple independent factors. Linear discriminant analysis and the receiver operating characteristic curve were used to assess the predictive performance of PR inhibition variables for ADHD diagnosis. We found that four variables of prepotent response reaction time- and prepotent response inhibition established statistically significant differences between children with and without ADHD. Furthermore, these variables generated a strong discriminant function with a total classification capability of 73, 84% specificity, 68% sensitivity, and 90% positive predictive value for ADHD diagnosis, which support reaction times as a candidate endophenotype that could potentially be used in future ADHD genetic research.