Caracterización de un grupo de pacientes con esquizofrenia en el Valle Central de Costa Rica

artículo (arbitrado). Universidad de Costa Rica, Centro de Investigación en Biología Celular y Molecular, 2008La esquizofrenia es una enfermedad crónica con importantes repercusiones sociales que afecta al 1% de la población mundial. Se describe las características de la esquizofrenia en una muestra de pacientes del Valle Central de Costa Rica. Métodos: estudio descriptivo, transversal en esquizofrénicos diagnosticados a través del proceso de mejor estimado diagnostico según la cuarta edición del Manual Diagnóstico y Estadístico de los Trastornos Mentales (DSMIV). Resultados: de 260 esquizofrénicos, 186 (71.5%) son varones y 74 (28.5%) mujeres, la edad promedio de entrevista es 38.95 años (Desviación Standard (DS): 11.37), menor en los varones (37.54 años, DS: 10.46) que en las mujeres (42.49 (DS: 12.81, p<0.05), el 44.96% presenta el subtipo indiferenciada, 29.07% paranoide, 15.89% desorganizada y 10.08% para otros subtipos. La edad de inicio es en promedio 21.39 años (DS: 7.21) y la edad del primer tratamiento es 22.26 años (DS: 6.55) sin diferencia significativa entre hombres y mujeres, 159 (85% de varones) nunca se ha casado versus 47 (63% de mujeres)(p0.05). El número de hospitalizaciones es en promedio 5.49 (DS: 5.24), (p>0.05), los sujetos solteros presentan tendencia a un mayor número de ingresos (17.25 internamientos). El 49.6% ha sufrido al menos un síndrome depresivo mayor, 7.5% de los varones presenta abuso y el 22.0% dependencia al alcohol; 7.7% de sujetos presenta abuso y el 7.3% dependencia a sustancias (p>0.05). Discusión: Nuestros pacientes presentaron características clínicas y demográficas similares a lo observado en otras poblaciones. Más de la mitad de los individuos tenían antecedente de síntomas afectivos siendo los depresivos los más frecuentes. Los varones solteros constituyeron el grupo con peor pronóstico, mayor desempleo y mayor tendencia a presentar reingresos hospitalarios. Sin embargo, dicho hallazgo podría ser explicado por la organización económica de los hogares y el rol social del varón en nuestra sociedad. Conclusión: los varones y las mujeres EZ del VCCR muestran una misma edad de inicio de enfermedad, el subtipo predominante en ambos grupos es el indiferenciado con el antecedente de síntomas depresivos. Los varones presentan un mayor índice de desempleo, mayor consumo de sustancias lícitas e ilícitas y mayor número de hospitalizaciones que las mujeres.Schizophrenia is a chronic illness with important social consequences. It is found in 1% of the world population. We describe the characteristics of schizophrenia in a sample of patients from the Central Valley of Costa Rica. Methods: descriptive, transversal study of schizophrenic patients diagnosed with the best estimate diagnosis process based on DSMIV criteria. Results: out of 260 schizophrenic subjects, 186 (71.5%) are males and 74 (28.5%) females, average age at interview is 38.95 years (SD: 11.37), lower in males (37.54 years, SD: 10.46) than females (42.49 (SD: 12.81, p0.05), those who are not married have a trend of more hospitalizations (17.25); 49.6% of the subjects have had at least one major depressive syndrome; 7.5% of males present alcohol abuse and 22.0% alcohol dependence; 7.7% have substance abuse and 7.3% substance dependence (p>0.05). Discussion: our sample showed similar clinical and demographic characteristics to other populations. More than half of the sample had affective symptoms, depressive symptoms were the most frequent. Single males had the worse prognosis, lower employment rate and higher number of hospitalizations. Nonetheless, this finding could be explained by the economical organization of the household and the social role of males in our society. Conclusions: schizophrenic males and females from the Central Valley of Costa Rica showed the same age of onset. In both groups, the most frequent schizophrenia type was undifferentiated with history of depressive symptoms. Males had higher unemployment rate, more substance use and more number of hospitalizations than females.Universidad de Costa RicaUCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias Básicas::Centro de Investigación en Biología Celular y Molecular (CIBCM

Suggestive evidence for association between L-type voltagegated calcium channel (CACNA1C) gene haplotypes and bipolar disorder in Latinos: a family-based association stud

Objectives: Through recent genome-wide association studies (GWASs), several groups have reported significant association between variants in the calcium channel, voltage-dependent, L-type, alpha 1C subunit (CACNA1C) and bipolar disorder (BP) in European and European-American cohorts. We performed a family-based association study to determine whether CACNA1C is associated with BP in the Latino population. Methods: This study included 913 individuals from 215 Latino pedigrees recruited from the USA, Mexico, Guatemala, and Costa Rica. The Illumina GoldenGate Genotyping Assay was used to genotype 58 single-nucleotide polymorphisms (SNPs) that spanned a 602.9-kb region encompassing the CACNA1C gene including two SNPs (rs7297582 and rs1006737) previously shown to associate with BP. Individual SNP and haplotype association analyses were performed using Family-Based Association Test (version 2.0.3) and Haploview (version 4.2) software. Results: An eight-locus haplotype block that included these two markers showed significant association with BP (global marker permuted p = 0.0018) in the Latino population. For individual SNPs, this sample had insufficient power (10%) to detect associations with SNPs with minor effect (odds ratio = 1.15). Conclusions: Although we were not able to replicate findings of association between individual CACNA1C SNPs rs7297582 and rs1006737 and BP, we were able to replicate the GWAS signal reported for CACNA1C through a haplotype analysis that encompassed these previously reported significant SNPs. These results provide additional evidence that CACNA1C is associated with BP and provides the first evidence that variations in this gene might play a role in the pathogenesis of this disorder in the Latino population

Suggestive evidence for association between L-type voltage-gated calcium channel (CACNA1C) gene haplotypes and bipolar disorder in Latinos: a family-based association study

Objectives: Through recent genome-wide association studies (GWASs), several groups have reported significant association between variants in the calcium channel, voltage-dependent, L-type, alpha 1C subunit (CACNA1C) and bipolar disorder (BP) in European and European-American cohorts. We performed a family-based association study to determine whether CACNA1C is associated with BP in the Latino population. Methods: This study included 913 individuals from 215 Latino pedigrees recruited from the USA, Mexico, Guatemala, and Costa Rica. The Illumina GoldenGate Genotyping Assay was used to genotype 58 single-nucleotide polymorphisms (SNPs) that spanned a 602.9-kb region encompassing the CACNA1C gene including two SNPs (rs7297582 and rs1006737) previously shown to associate with BP. Individual SNP and haplotype association analyses were performed using Family-Based Association Test (version 2.0.3) and Haploview (version 4.2) software. Results: An eight-locus haplotype block that included these two markers showed significant association with BP (global marker permuted p = 0.0018) in the Latino population. For individual SNPs, this sample had insufficient power (10%) to detect associations with SNPs with minor effect (odds ratio = 1.15). Conclusions: Although we were not able to replicate findings of association between individual CACNA1C SNPs rs7297582 and rs1006737 and BP, we were able to replicate the GWAS signal reported for CACNA1C through a haplotype analysis that encompassed these previously reported significant SNPs. These results provide additional evidence that CACNA1C is associated with BP and provides the first evidence that variations in this gene might play a role in the pathogenesis of this disorder in the Latino population

Identification of circadian gene variants in bipolar disorder in Latino populations

AbstractBackgroundVariations in circadian genes can impact biological rhythms. Given the rhythm disturbances that characterize bipolar disorder (BD), genes encoding components of molecular clocks are good candidate genes for the illness.MethodsA family based association analysis of circadian gene single nucleotide polymorphisms (SNPs) and BD was conducted in Latino pedigrees. 884 individuals from 207 pedigrees (473BP phenotype and 411 unaffected family members) were genotyped. Family based single marker association testing was performed. Ancestral haplotypes (SNPs found to be in strong LD defined using confidence intervals) were also tested for association with BD.ResultsMultiple suggestive associations between circadian gene SNPs and BD were noted. These included CSNK1E (rs1534891, p=0.00689), ARNTL (rs3789327, p=0.021172), CSNK1D (rs4510078, p=0.022801), CLOCK (rs17777927, p=0.031664). Individually, none of the SNPs were significantly associated with BD after correction for multiple testing. However, a 4-locus CSNK1E haplotype encompassing the rs1534891 SNP (Z-score=2.685, permuted p=0.0076) and a 3-locus haplotype in ARNTL (Z-score=3.269, permuted p=0.0011) showed a significant association with BD.LimitationsLarger samples are required to confirm these findings and assess the relationship between circadian gene SNPs and BD in Latinos.ConclusionsThe results suggest that ARNTL and CSKN1E variants may be associated with BD. Further studies are warranted to assess the relationships between these genes and BD in Latino populations

Suggestive evidence for association between L-type voltage-gated calcium channel (CACNA1C) gene haplotypes and bipolar disorder in latinos: a family-based association study

artículo -- Universidad de Costa Rica. Centro Investigación en Biología Molecular y Celular, 2013Objectives: Through recent genome-wide association studies (GWASs), several groups have reported significant association between variants in the calcium channel, voltage-dependent, L-type, alpha 1C subunit (CACNA1C) and bipolar disorder (BP) in European and European- American cohorts. We performed a family-based association study to determine whether CACNA1C is associated with BP in the Latino population. Methods: This study included 913 individuals from 215 Latino pedigrees recruited from the USA, Mexico, Guatemala, and Costa Rica. The Illumina GoldenGate Genotyping Assay was used to genotype 58 single-nucleotide polymorphisms (SNPs) that spanned a 602.9-kb region encompassing the CACNA1C gene including two SNPs (rs7297582 and rs1006737) previously shown to associate with BP. Individual SNP and haplotype association analyses were performed using Family-Based Association Test (version 2.0.3) and Haploview (version 4.2) software. Results: An eight-locus haplotype block that included these two markers showed significant association with BP (global marker permuted p = 0.0018) in the Latino population. For individual SNPs, this sample had insufficient power (10%) to detect associations with SNPs with minor effect (odds ratio = 1.15). Conclusions: Although we were not able to replicate findings of association between individual CACNA1C SNPs rs7297582 and rs1006737 and BP, we were able to replicate the GWAS signal reported for CACNA1C through a haplotype analysis that encompassed these previously reported significant SNPs. These results provide additional evidence that CACNA1C is associated with BP and provides the first evidence that variations in this gene might play a role in the pathogenesis of this disorder in the Latino population.This study was funded in part by the National Institutes of Mental Health (RO1-MH0698567) and by the Center of Excellence in Neurosciences at the Paul L. Foster School of Medicine.UCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias Básicas::Centro de Investigación en Biología Celular y Molecular (CIBCM

The Approaches to Schizophrenia Communication (ASC) Tool: Including the Patient Perspective in Treatment

Adverse effects of antipsychotics are important determinants of patient attitudes towards medications, adherence to treatment, and quality of life. A discussion of adverse effects is therefore a crucial element of treatment and offers a unique opportunity for dialogue between the patient and the clinician. Unfortunately, clinicians in routine clinical practice have had very limited guidance regarding how best to initiate this discussion. In fact, despite the recognition of the importance of adverse effects, their systematic assessment has been, for the most part, confined to research settings, where the main focus has been on extrapyramidal symptoms (EPS). Furthermore, until recently, clinicians tended to discount patient subjective experiences with antipsychotic medications, focusing on the evaluation of objective severity. However, ignoring the subjective experience of patients results in inadequate communication between the patient and the clinician. The Approaches to Schizophrenia (Communication ASC) Steering Group, comprised of psychiatrists from the US, Canada and the UK, identified the need to develop a tool that could be used in routine clinical care settings to facilitate the communication between patients and clinicians regarding adverse effects. In order to be useful the instrument needed to be brief, clinically focused and easy to administer. As for the content, it needed to include the patientsAdverse-reaction-monitoring, Antipsychotics, Questionnaires, Schizophrenia

Substance use disorder comorbidity with schizophrenia in families of Mexican and Central American Ancestry

artículo -- Universidad de Costa Rica. Centro Investigación en Biología Molecular y Celular, 2010. Este documento es privado debido a limitaciones de derechos de autor.Objectives:The aims of this study were to estimate the frequency and course of substances use disorders in Latino patients with schizophrenia and to ascertain risk factors associated with substance use disorders in this population. Method: We studied 518 subjects with schizophrenia recruited for a genetic study from the Southwest United States, Mexico, and Central America (Costa Rica and Guatemala). Subjects were assessed using structured interviews and a best estimate consensus process. Logistic regression, χ 2 , ttest, Fisher's exact test, and Yates' correction, as appropriate, were performed to assess the sociodemographic variables associated with dual diagnosis. We defined substance use disorder as either alcohol or substance abuse or dependence. Results: Out of 518 patients with schizophrenia, 121 (23.4%) had substance use disorders. Comorbid substance use disorders were associated with male gender, residence in the United States, immigration of Mexican men to the United States, history of depressive syndrome or episode, and being unemployed. The most frequent substance use disorder was alcohol abuse/ dependence, followed by marijuana abuse/dependence, and solvent abuse/dependence. Conclusion: This study provides data suggesting that depressive episode or syndrome, unemployment, male gender, and immigration of Mexican men to the United States were factors associated with substance use disorder comorbidity in schizophrenia. Binary logistic regression showed that country of residence was associated with substance use disorder in schizophrenic patients. The percentage of subjects with comorbid substance use disorders was higher in the Latinos living in the United States compared with subjects living in Central America and Mexico.Universidad de Costa Rica. This research was supported by the following grants from the National Institute of Mental Health: MH60881 and MH60875. Dr. Jimenez-Castro was supported by a fellowship of grant D43 TW06152-01 from the National Institute of Mental Health, the National Institute of Drug Abuse and the Fogarty Institute. These institutions had no further role in the study design, in the collection, analysis and interpretation of data, in writing of the report, and in the decision to submit the paper for publicationUCR::Investigación::Unidades de Investigación::Ciencias Básicas::Centro de Investigación en Biología Celular y Molecular (CIBCM

Diagnosis of Schizophrenia in Latino Populations. A Comparison of Direct Interview and Consensus Based Multi-Source Methods

artículo (arbitrado)--Universidad de Costa Rica, Centro de Investigación en Biología Celular y Molecular. 2009. Este documento es privado debido a limitaciones de derechos de autor.We determined the rates of agreement between diagnoses, using the Diagnostic Interview for Genetic Studies (DIGS) and diagnoses arrived at, using additional sources of information, to establish whether there are differences in agreement between direct interview diagnoses at US and non-US sites in comparison best estimate consensus process and to identify diagnoses that could increase diagnostic error when only the DIGS is used. DIGS diagnoses were compared with consensus diagnoses that used the same DIGS interview, plus Family Interview for Genetic Studies (FIGS) and review of medical records in 342 psychotic subjects. We found similar numbers of subjects diagnosed with schizophrenia (225 by direct interview, and 232 by consensus process). The majority of those “misdiagnosed” by direct interview had mood disorder by the consensus. Over 10% of the total subjects diagnosed by direct interview as not meeting criteria for schizophrenia had schizophrenia by consensus. There were no statistically significant differences between countries (US vs. non-US sites) in the agreement rate between direct interview diagnosis and consensus diagnosis. In conclusion, a final best-estimate process is essential to make diagnostic distinctions and to reduce diagnostic misclassifications for both research studies and in clinical practiceUniversidad de Costa RicaUCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias Básicas::Centro de Investigación en Biología Celular y Molecular (CIBCM