Jenny García

An association study of bipolar mood disorder (type I) with the 5-HTTLPR serotonin transporter polymorphism in a human population isolate from Colombia.

The short variant of a functional length polymorphism in the promoter region of the serotonin transporter has been associated with several behavioural and psychiatric traits, including bipolar mood disorder. The same short allele has also been implicated as a modifier of the bipolar phenotype. Here we evaluate the etiologic/modifier role of this polymorphism in a case (N=103) / control (N=112) sample for bipolar mood disorder (type I) collected from an isolated South American population. We did not detect an association between bipolar disorder and the 5-HTT promoter polymorphism in this sample. However, an excess of the short allele was seen in younger cases and in cases with psychotic symptoms. When combined with data from the literature, the increased frequency of the short allele in patients with psychotic symptoms was statistically significant.

Lithium treatment effects on the neuropsychological functioning of patients with bipolar I disorder.

OBJECTIVE To determine if medication plays a major role in cognitive impairment in bipolar disorder and if regular treatment with lithium influences the cognitive performance of a group of euthymic patients with bipolar I disorder. METHOD Cognitive performance was assessed using neuropsychological tests of attention, memory, and executive function on 60 subjects: 20 euthymic bipolar I patients with no medication intake, 20 euthymic bipolar I patients who were following regular treatment with lithium carbonate monotherapy, and a third group of 20 control healthy subjects. The subjects were evaluated from January 2005 to October 2006. Patients were diagnosed using DSM-IV criteria for bipolar disorder. RESULTS Compared to the healthy group, bipolar I patients had significantly lower performance on episodic verbal and visual-verbal memory regardless of their medication status. No significant cognitive performance differences were found between the two groups of patients with bipolar disorder, suggesting that lithium therapy had no deleterious effects on cognition. CONCLUSION Patients with bipolar I disorder have verbal memory deficits that are not explained by medication or by lithium monotherapy, but by the condition itself.

Identification of Suicide Risk Factors in Medellín, Colombia: A Case-Control Study of Psychological Autopsy in a Developing Country

The incidence, methods and risk factors for suicide may vary among the different cultures, which makes necessary to study the risk factors for suicide in specific settings in order to design adequate intervention strategies. This study aims to determine the risk factors for suicide in Medellín (Colombia). It is a case-control study conducted among 108 individuals who committed suicide and 108 deceased in accidents, matched for age and gender. Both cases and controls were examined by means of psychological autopsy. Conditional logistic regression analysis identified the following factors: Adverse life events in the last six months (OR = 11.81, 95% CI: 4.29–32.52), family history of suicide (OR = 10.82, 95% CI: 2.23–52.47), major depressive episode (OR = 4.58, 95% CI: 1.53–13.67) and expression of a wish to die (OR = 3.54, 95% CI: 1.25–10.06). These findings may suggest that risk factors for suicide are similar across cultures.

Evidence for a role of the NOS1AP (CAPON) gene in schizophrenia and its clinical dimensions: an association study in a South American population isolate.

Background/Aims: Recent studies have implicated a region on chromosome 1q21-23, including the NOS1AP gene, in susceptibility to schizophrenia. However, replication studies have been inconsistent, a fact that could partly relate to the marked psychopathological heterogeneity of schizophrenia. The aim of this study is to evaluate association of polymorphisms in the NOS1AP gene region to schizophrenia, in patients from a South American population isolate, and to assess if these variants are associated with specific clinical dimensions of the disorder. Methods: We genotyped 24 densely spaced SNPs in the NOS1AP gene region in a schizophrenia trio sample. The transmission disequilibrium test (TDT) was applied to single marker and haplotype data. Association to clinical dimensions (identified by factor analysis) was evaluated using a quantitative transmission disequilibrium test (QTDT). Results: We found significant association between eight SNPs in the NOS1AP gene region to schizophrenia (minimum p value = 0.004). The QTDT analysis of clinical dimensions revealed an association to a dimension consisting mainly of negative symptoms (minimum p value 0.001). Conclusions: Our findings are consistent with a role for NOS1AP in susceptibility to schizophrenia, especially for the ‘negative syndrome’ of the disorder.

Transmission distortion of BDNF variants to bipolar disorder type I patients from a south american population isolate

Recent reports have implicated polymorphisms in the brain derived neurotrophic factor (BDNF) gene region in the etiology of several psychiatric phenotypes, including bipolar disorder. Significant disease association has been reported for the G allele at SNP rs6265, which encodes for Valine at position 66 of BDNF (Val66Met), an apparently functional variant of this key BDNF. Here we examined a sample of 224 bipolar type I patients and available parents (comprising a total of 212 nuclear families) ascertained in a South American population isolate (Antioquia, Colombia). We tested for transmission distortion to bipolar patients of alleles at the rs6265 polymorphism and at a microsatellite marker 1.3 kb away from this SNP. Significant excess transmission of the rs6265 G allele to cases was observed (χ2 = 10.77, d.f. = 1, P = 0.001). Two‐locus haplotype analysis showed a significant global transmission distortion (χ2 = 16.059, d.f. = 7, P = 0.025) with an excess transmission of a haplotype comprising the rs6265 G allele and microsatellite allele 227. These results are consistent with previous studies pointing to a role for BDNF in susceptibility to mood disorders.

Genome-Wide Linkage Scan of Bipolar Disorder in a Colombian Population Isolate Replicates Loci on Chromosomes 7p21–22, 1p31, 16p12 and 21q21–22 and Identifies a Novel Locus on Chromosome 12q

Background/Aims: Bipolar disorder (BP) is a severe psychiatric illness, characterised by alternating episodes of depression and mania, which ranks among the top ten causes of morbidity and life-long disability world-wide. We have previously performed a whole-genome linkage scan on 6 pedigrees segregating severe BP from the well-characterised population isolate of Antioquia, Colombia. We recently collected genotypes for the same set of 382 autosomal microsatellite markers in 9 additional Antioquian BP pedigrees. Here, we report the analysis of the combined pedigree set. Methods: Linkage analysis using both parametric and nonparametric approaches was conducted for 3 different diagnostic models: severe BP only (BPI); mood disorders (BPI, BPII and major depression); and psychosis (operationally defined by the occurrence of at least 1 episode of hallucinations and/or delusions). Results and Conclusion: For BPI only, the most interesting result was obtained for chromosome 7p21.1–p22.2 under a recessive model of inheritance (heterogeneity LOD score = 2.80), a region that had previously been linked to BP in a study on Portuguese Island families. For both BPI and mood disorders, nonparametric analyses identified a locus on chromosome 12ct–q14 (nonparametric linkage = 2.55 and 2.35, respectively). This locus has not previously been reported as a candidate region for BP. Additional candidate regions were found on chromosomes 1p22–31 (mood disorders) and 21q21–22 (BPI), 2 loci that have repeatedly been implicated in BP susceptibility. Linkage analysis of psychosis as a phenotype identified candidate regions on chromosomes 2q24–31 and 16p12–q12. The finding on chromosome 16p is noteworthy because the same locus has been implicated by genome-wide association analyses of BP.

Resonancia magnética funcional en pacientes adultos eutímicos con trastorno bipolar tipo I: una visión neuropsicológica y neurofuncional

Introduction Several studies using functional magnetic resonance imaging during the euthymic phase of bipolar disorder type I have been performed in the last decade. A critical review of the findings is therefore required.

A Proposal for Using UAS in Radio Navigation Aids Flight Inspection

The main objective of this paper is to contribute to the inherent necessity of the aerial transport system to guarantee the safety of its users in an efficient manner. This efficiency is required to accomplish the objective of transport people and goods with cost content enough to allow the access to this system at the biggest number of users. To improve this efficiency we propose a new paradigm in Flight Inspection Systems. This new paradigm separates the flight inspection platform in two separate segments, remaining in the air segment the strictly needed resources, the sensors, by mean of Unmanned Aerial Systems (UAS).

Validation of Thwaites Index for diagnosing tuberculous meningitis in a Colombian population

OBJECTIVE To determine the diagnostic accuracy of Thwaites Index (TI) in a Colombian population to distinguish meningeal tuberculosis (MTB) from bacterial meningitis (BM) and from non-tuberculous meningitis. Exploratory analyses were conducted to assess the TIs validity for patients with human immunodeficiency virus (HIV) and children above six-years-old. METHODS The study included 527 patients, the TI was calculated and results compared with those of a reference standard established by expert neurologists. Sensitivity, specificity, area under the curve of receiver-operator characteristics (AUC-ROC) and likelihood ratios were calculated. RESULTS The AUC-ROC to distinguish MTB from non-tuberculous meningitis was 0.72 (95% CI: 0.67-0.77) for HIV negative adults. AUC-ROC was 0.62 (95% CI: 0.50-0.74) for HIV positive adults and 0.83 (95% CI: 0.68-0.97) for children. For distinguishing MTB from BM the AUC-ROC was 0.78 (95% CI: 0.73-0.83); furthermore, the AUC-ROC was 0.57 (95% CI: 0.31-0.83) for HIV positive adults and 0.86 (95% CI: 0.73-0.99) for children. CONCLUSION The TI was sensitive but not specific when used to distinguish MTB from BM in HIV negative adults. In HIV positive adults the index had low diagnostic accuracy. Moreover, the TI showed discrimination capability for children over 6years; however, research with larger samples is required in these.

Perfiles psicopatológicos en los hijos de los sujetos con trastorno afectivo bipolar

INTRODUCTION Bipolar Disorder (BD) has a high heritability and is more prevalent in first-degree relatives with family history. This makes the bipolar offspring (BO) an ideal study group to evaluate the natural history and the prodromal symptoms of this disorder. The main psychopathological findings for this group in various studies are described in this review. METHODS Articles comparing the psychopathology of bipolar offspring to either the offspring of other psychiatric patients or the offspring of healthy controls were reviewed. RESULTS The reviewed studies showed that the BO group had higher rates of affective disorders when compared to the offspring of other psychiatric patients or the offspring of healthy controls. The high prevalence of anxiety disorders, ADHD, and disruptive behavior disorders in this population suggest that such disorders could be considered prodromes of mood disorders. CONCLUSIONS The group of BO had a significantly higher risk of developing a wide range of psychiatric disorders besides BD. More longitudinal studies are needed to characterize this population at risk for BD and to elucidate the risk factors in the progression of this disorder.Resumen Introduccion El trastorno afectivo bipolar (TAB) es una entidad con una alta heredabilidad demostrada y es mas frecuente en los individuos con antecedentes familiares en primer grado de consanguinidad. Esto hace a los hijos de los pacientes con TAB (HPTB) el grupo ideal de estudio para evaluar la historia natural del trastorno y sus sintomas prodromicos. En esta revision se describen los hallazgos encontrados en los diversos estudios respecto a la psicopatologia de los HPTB. Metodos Se revisaron articulos que comparaban la psicopatologia de HPTB con hijos de sujetos con otros trastornos psiquiatricos o con hijos de individuos sanos. Resultados Los estudios revisados muestran que el grupo de HPTB presenta tasas mas elevadas de trastornos afectivos, en comparacion con los hijos de padres sanos y padres con algun trastorno psiquiatrico. La alta prevalencia de trastornos de ansiedad, trastornos por deficit de atencion e hiperactividad y de comportamiento disruptivo en esta poblacion sugiere que estos podrian considerarse prodromos de los trastornos del animo. Conclusiones El grupo de HPTB tiene un riesgo significativamente mayor para una amplia gama de trastornos psiquiatricos, ademas del TAB. Se requieren mas estudios longitudinales para caracterizar a esta poblacion en riesgo de TAB, y asi definir mejor los factores de riesgo para la progresion a este trastorno.