Jenny García Valencia

Exploring epistasis in candidate genes for antisocial personality disorder

Objective To identify and characterize high-order gene-to-gene interactions in antisocial personality disorder (ASPD). Methods Participants for case–control study were selected from the inmate male population in Bellavista prison from Medellin. The study included 310 individuals with ASPD and 200 with no ASPD. Diagnoses were made according to a best-estimate procedure based on a semistructured interview (diagnostic interview for genetic studies 3.0). We genotyped some single-nucleotide polymorphisms in candidate genes with main serotonin pathway effects. The gene–gene interaction was examined using the multifactor dimensionality reduction method version 2.0.&agr;. We assessed model sizes of 2 and 3 loci and counted the number of replicates that contained the causal loci in the final best model that was identified using 10-fold cross validation. Results We find epistatic interaction with catechol-O-methyl transferase (COMT), tryptophan hydroxylase, and 5-HTR2A (serotonin receptor) with ASPD. This data supports an important role of polymorphism in serotonin receptors and low enzyme activity of COMT for susceptibility to ASPD. Conclusion This study suggests that gene interactions between genetic variants in COMT, 5-HTR2A and tryptophan hydroxylase gene would be associated with ASPD and influence the dopamine rewards pathways and modulate serotonin levels in ASPD.

Suicidio y género en Antioquia (Colombia): estudio de autopsia psicológica

Objective: To identify differences in the socio-demographic and clinical characteristics between suicidal men and women in a sample from Antioquia (Colombia). Method: 144 subjects who committed suicide between 2006 and 2007 were studied by means of a psychological autopsy. Gender differences and characteristics associated independently to being a man or a woman were determined. Results: Significant differences independent of sex were identified. Death by firearm, living alone and suicide under the effects of alcohol intoxication were associated with the male gender, whereas suicide at home and leaving a note were associated with the female

Características de los suicidios de áreas rurales y urbanas de Antioquia, Colombia

Resumen Objetivo Determinar si existen diferencias entre areas rurales y urbanas de Antioquia en las caracteristicas asociadas con el suicidio. Metodo Se compararon 79 sujetos provenientes de areas rurales y 75 de areas urbanas de Antioquia. Se hizo autopsia psicologica y se calcularon razones de prevalencia (RP) (frecuencia de la caracteristica en zona rural/frecuencia de la caracteristica en zona urbana). Resultados Las caracteristicas asociadas de manera independiente con provenir de area rural y urbana fueron: “momento del suicidio durante la noche” (RP = 0,65; IC 95%: 0,48–0,89) y “vivir solo” (RP = 0,40; IC 95%: 0,17–0,98), que fueron mas frecuentes en zona urbana, y “envenenamiento con pesticidas”, que ocurrio mas en zona rural (RP = 1,80; IC 95%: 1,39–2,34). Conclusiones Los individuos suicidas provenientes de zonas rurales y urbanas tenian caracteristicas diferentes. Ello puede tener implicaciones para el diseno de las estrategias de prevencion del suicidio en cada una de las zonas. Se requieren otros estudios para determinar los factores de riesgo propios de cada area.

Carga familiar en familias antioqueñas del Grupo Psicoeducativo del Departamento de Psiquiatría de la Universidad de Antioquia que tienen un miembro diagnosticado con trastorno afectivo bipolar

Resumen Objetivo Determinar la carga familiar en un grupo de familias del Grupo Psicoeducativo del Departamento de Psiquiatria de la Universidad de Antioquia que tienen un miembro con diagnostico de trastorno afectivo bipolar. Metodos Se midio la carga familiar acumulada en 50 cuidadores de personas con diagnostico de trastorno afectivo bipolar. La carga se midio con la Escala de Carga Familiar (ECF), que es una adaptacion espanola de la Escala de Desempeno Psicosocial. El procesamiento y analisis estadistico se realizo en el SPSS version 17, utilizando estadistica descriptiva, analisis de tendencias, promedios y porcentajes. Resultados A 50 cuidadores que participaron en el estudio se les aplico la Escala de Carga Familiar; 34 (68%) eran mujeres y 16 (32%) eran hombres. Los cuidadores de pacientes con diagnostico de trastorno afectivo bipolar tuvieron una carga objetiva con una mediana de 0,5 con un rango intercuartilico entre 0,28 y 0,85, lo que muestra una carga objetiva baja; asi mismo, tuvieron una atribucion con una mediana de 0,50 y un rango intercuartilico entre 0 y 1, lo que muestra una muy baja atribucion; finalmente, presentaron una carga subjetiva con una mediana de 0,53 y un rango intercuartilico entre 0,36 y 0,83, lo que muestra una baja carga subjetiva. Conclusiones La carga familiar en cuidadores que participan del Grupo Psicoeducativo del Departamento de Psiquiatria de la Universidad de Antioquia es baja. Esto podria ser explicado por el apoyo que ofrece el Grupo y por la eutimia del enfermo.

Psicoeducación en esquizofrenia

Background The treatment of schizophrenia includes the use of psychotropic drugs, psychotherapy, and psychosocial interventions that include psychoeducation. This strategy has been defined as the delivery of information about the disorder and its treatment in a systematic and structured way.

Factores asociados al abandono temprano del tratamiento de trastornos por uso de sustancias en una institución de Medellín, ColombiaFactors Associated With the Temporary Abandonment of Treatment for Disorders Due to Substance Abuse in an Institution in Medellin, Colombia

OBJECTIVE To determine the frequency and factors associated withtreatment drop-out in patients from a Substance User Treatment Center in Medellín, Colombia. METHODS A case-control study was conducted, with patients with an early treatment dropout as cases, and patients who completed the treatment as controls. Demographic data, substance use pattern, concomitant diseases, and the decision to initiate treatment were compared between cases and controls. RESULTS The frequency of early drop-out was 59%, but a high proportion of this drop-out (47.5%) occurred in the transition period between the program stages. The variables associated with drop-out were: psychotic disorder (OR=0.32; 95% CI, 0.11-0.91), bipolar disorder (OR=0.31; 95% CI, 0.12-0.77), heroin as the principal substance compared to alcohol (OR=6.68; 95% CI, 1.52-29.4), decision to initiate the treatment by the family compared to personal decision (OR=3.02; 95% CI, 1.28-7.17), and previous treatments (OR=1.87; 95% CI, 1.02-3.44). CONCLUSIONS The drop-out frequency is similar to those reported in other studies. Associated factors were found, which could be considered in order to plan strategies to improve the program results.

Factores asociados al abandono temprano del tratamiento de trastornos por uso de sustancias en una institución de Medellín, Colombia

OBJECTIVE To determine the frequency and factors associated withtreatment drop-out in patients from a Substance User Treatment Center in Medellín, Colombia. METHODS A case-control study was conducted, with patients with an early treatment dropout as cases, and patients who completed the treatment as controls. Demographic data, substance use pattern, concomitant diseases, and the decision to initiate treatment were compared between cases and controls. RESULTS The frequency of early drop-out was 59%, but a high proportion of this drop-out (47.5%) occurred in the transition period between the program stages. The variables associated with drop-out were: psychotic disorder (OR=0.32; 95% CI, 0.11-0.91), bipolar disorder (OR=0.31; 95% CI, 0.12-0.77), heroin as the principal substance compared to alcohol (OR=6.68; 95% CI, 1.52-29.4), decision to initiate the treatment by the family compared to personal decision (OR=3.02; 95% CI, 1.28-7.17), and previous treatments (OR=1.87; 95% CI, 1.02-3.44). CONCLUSIONS The drop-out frequency is similar to those reported in other studies. Associated factors were found, which could be considered in order to plan strategies to improve the program results.

Prevalencia de variantes en el gen de la apolipoproteína E (APOE) en adultos de la población general del área urbana de Medellín (Antioquia)

OBJECTIVE To determine the allelic and genotype frequencies of apolipoproteine E (APOE) gene in a representative sample of the adult population of Medellin in 2010. METHODS A representative sample of the adult population of Medellin, was obtained by means of a multi-stage, stratified, conglomerate based sampling method. APOE genotyping was carried out on each of the participants. The sampling design was taken into consideration for the frequencies and association analysis. RESULTS The frequencies of the APOE alleles E2, E3 and E4 were 3.9, 92.0 and 4.1%, respectively. The frequencies of the different APOE genotypes were as follows: 2/2, 0.2%; 2/3, 6.8%; 2/4, 0.6%; 3/3, 85.0%; 3/4, 7.2%, and 4/4, 0.3%. CONCLUSIONS The allelic and genotype frequencies of APOE in an adult population of Medellin did not differ substantially from other series reported in South America. These data are important to determine the real impact of APOE on the population risk of several psychiatric diseases.

Identificación empírica de subtipos clínicos de esquizofrenia

Resumen Objetivos Identificar empiricamente subtipos de esquizofrenia con base en sintomas presentados a lo largo del trastorno y determinar si existen entre estos diferencias en caracteristicas sociodemograficas y clinicas. Metodos Se obtuvo informacion clinica de 217 sujetos con esquizofrenia aplicando la Entrevista Diagnostica para Estudios Geneticos (DIGS). Los ejes de sintomas clinicos de esquizofrenia se identificaron usando analisis de correspondencias multiples y con base en estos se hizo una clasificacion jerarquica, para determinar los subtipos de individuos con esquizofrenia. Resultados Se obtuvo una solucion de tres ejes de sintomas clinicos: (1) delirios y alucinaciones, (2) catatonico y (3) sintomas desorganizados y negativos. Con base en estos, se identificaron cinco subtipos: paranoide sin vivencias de influencia, desorganizado puro, catatonico, desorganizado con alucinaciones y delirios y paranoide con vivencias de influencia. Al comparar con el subtipo 1: el 2 presento con mayor frecuencia un inicio temprano del trastorno (OR: 2,64; IC95%: 1,00-6,96) y deterioro grave (OR: 4,12; IC95%: 1,73-9,79); el 3 tenia menos comorbilidad con trastorno por uso de sustancias (OR: 0,12; IC95%: 0,01-1,00); y el 4 evidencio un mayor numero de sujetos con curso continuo (OR: 4,40; IC95%: 1,84-10,52) y deterioro grave (OR: 5,34; IC95%: 2,15-13,27). No habia diferencias significativas entre los subtipos 1 y 5. Conclusion Se obtuvieron empiricamente cinco subtipos clinicos de esquizofrenia similares a descripciones previas y que tienen diferencias en el curso del trastorno y comorbilidad.

Evaluación y seguimiento hematológico del paciente con diagnóstico de esquizofrenia

OBJECTIVES To guide the clinician in taking decisions on the best strategies for assessing and monitoring the risk of blood disorders in adults diagnosed with schizophrenia in pharmacological treatment. METHOD A clinical practice guideline was developed following the guidelines of the Methodological Guide of the Ministry of Social Protection to collect evidence and grade recommendations. De novoliterature researchwas performed. RESULTS With the use of antipsychotics there isriskofreducción in the leukocyte count and the risk of agranulocytosis,the later associated with the use of clozapine, although it is a rare event(0.8%) can be fatal; this effect occurs most frequently in the first twelve weeks of treatment and the risk is maintained aroundthe first year of it. CONCLUSION The recommendations were considered strongin all hematologic related monitoring.A blood count should be taken at the start of pharmacological treatment. If the patient is started on clozapine one shouldbe taken weekly during the first three months, monthly until completing one year and every six months thereafter. If there is a decrease in white blood cell count the patient should be monitored regularly, stopping if is a less than 3,500 cells/mm(3) and consider referral if is less than 2,000 cells/mm(3).