ABSTRACT
Introducción El Trastorno Bipolar es una enfermedad que causa discapacidad física y cognitiva, afectando tanto a hombres como mujeres, con edad de inicio temprano y con un alto componente hereditario. Objetivo Estimar el comportamiento del Trastorno Bipolar, variables sociodemográficas, antecedentes y su relación con los genes CACNA1C (12p13.3) y DAOA (13q34) entre personas de 18 años y más en áreas específicas de la Región de Azuero de Panamá. Metodología La muestra calculada fue de 267 personas de 18 años y más (IC 95%) utilizando un muestreo aleatorio, de distribución proporcional según sexo. Se utilizaron las variables: "trastorno bipolar" medido a través del cuestionario de trastornos del estado de ánimo (Mood Disorder Questionnaire, MDQ por sus siglas en inglés); "genes asociados a la bipolaridad" (genes CACNA1C (12p13.3) y DAOA (13q34)); y un cuestionario de datos sociodemográficos y antecedentes personales familiares. El análisis genético se realizó con PCR (tiempo real). Se utilizaron porcentajes como medida de frecuencia relativa y se consideró significancia estadística para un valor de p ≤ 0.05. Resultados La prevalencia de bipolaridad en la muestra estudiada fue 3.7% (IC 95% 3.5 4.1), siendo mayor en mujeres, 6.0% (IC 95% 5.9 6.3). El 74.2% (IC 95% 73.9 74.4) de los participantes tenía presente el polimorfismo del gen CACNA1C (12p13.3), y 19.1% (IC 95% 18.9 19.4) el del gen DAOA (13q34). Para todas las variables de estudio, la presencia del gen CACNA1C (12p13.3) fue mayor que la del gen DAOA (13q34). De los 10 casos con MDQ+, 3 presentaron el gen CACNA1C. Conclusión Esta es la primera investigación sobre bipolaridad, genes y otros factores asociados en Panamá. El gen CACNA1C fue más prevalente que el DAOA y se asoció más al MDQ +.
Introduction Bipolar disorder is a disease that causes physical and cognitive disability, affecting both men and women, with an early onset age and a high hereditary component. Objective To estimate Bipolar Disorder demeanor, sociodemographic variables, antecedents and its relationship with CACNA1C (12p13.3) and DAOA (13q34) genes among people aged 18 years and over in specific areas of the Azuero Region of Panama. Methodology The calculated sample was 267 people aged 18 and over (95% CI) using random sampling, proportional distribution according to sex. The variables were used: "bipolar disorder" measured through the Mood Disorder Questionnaire (MDQ); "genes associated with bipolarity" (CACNA1C (12p13.3) and DAOA (13q34) genes); and a sociodemographic data questionnaire and personal family background. The genetic analysis was performed with PCR (real time). Percentages were used as a re of relative frequency and statistical significance was considered for a value of p ≤ 0.05. Results The prevalence of bipolarity in the studied sample was 3.7% (CI 95% 3.5 4.1), being higher in women, 6.0% (CI 95% 5.9 6.3). 74.2% (CI 95% 73.9 74.4) of the participants were aware of the polymorphism of the CACNA1C gene (12p13.3), and 19.1% (CI 95% 18.9 19.4) of the DAOA gene (13q34). For all study variables, the presence of the CACNA1C gene (12p13.3) was greater than that of the DAOA gene (13q34). Of the 10 cases with MDQ +, 3 presented the CACNA1C gene. ConclusionThis is the first research on bipolarity, genes and other associated factors in Panama. The CACNA1C gene was more prevalent than DAOA and was more associated with MDQ +.
Subject(s)
Bipolar Disorder , Bipolar Disorder/physiopathology , Bipolar and Related Disorders/epidemiology , Mania , Mental Disorders , Polymorphism, Genetic , Schizophrenia/genetics , Depression/geneticsABSTRACT
BACKGROUND: Autoantibodies have been detected in patients with psychiatric disorders. However, there is no standard test for the detection of these autoantibodies. In this study, we analyzed autoimmune target (AIT) test results in patients with psychiatric disorders and investigated the clinical utility of the AIT test for psychiatric disorders. METHODS: We retrospectively analyzed data from patients diagnosed with psychiatric disorders between August 1995 and May 2015. Of these, 100 patients assessed using the AIT test were enrolled in this study. Data regarding positive rates, immunofluorescent patterns of AIT results, and the presence of autoimmune diseases in patients with psychiatric disorders were retrospectively collected and analyzed. RESULTS: The autoantibody-positive rate was high in patients with psychiatric disorders (70.0%, 70/100). The positive rates in patients with schizophrenia, depressive disorders, bipolar and related disorders, adjustment disorders, anxiety disorders, and others were 82.9%, 64.7%, 88.9%, 57.1%, 66.7%, and 53.8%, respectively. The most frequent pattern of immunofluorescence was a speckled pattern in 30 cases, followed by microtubule organizing center with microtubule (MTOC-MT) in 17 cases. Twenty-one patients were diagnosed with autoimmune diseases. CONCLUSIONS: In this study, the incidence of autoantibodies was high in patients with psychiatric disorders not specific to schizophrenia. This suggests that the AIT test may therefore have the potential to be a screening test for psychiatric disorders. Further, additional AIT tests in patients with psychiatric disorders may help to clarify the relationships between psychiatric disorders and autoimmune disease.
Subject(s)
Humans , Adjustment Disorders , Anxiety Disorders , Autoantibodies , Autoimmune Diseases , Bipolar and Related Disorders , Depressive Disorder , Fluorescent Antibody Technique , Incidence , Mass Screening , Microtubule-Organizing Center , Microtubules , Retrospective Studies , SchizophreniaABSTRACT
RESUMEN INTRODUCCIÓN: Los pacientes con trastorno afectivo bipolar pueden presentar alteraciones cognoscitivas que en algunos casos tienen un curso progresivo, por lo cual se ha cuestionado si la evolución de esta enfermedad se asocia a demencia, particularmente aquellas pertenecientes al espectro de la degeneración lobar frontotemporal. En este contexto, discriminar si un paciente presenta una demencia secundaria a la enfermedad psiquiátrica de base o si cursa una enfermedad neurodegenerativa además del trastorno afectivo bipolar, es un desafío para el diagnóstico diferencial. OBJETIVO: Comparar los desempeños cognoscitivos en pacientes con trastorno afectivo bipolar, con veinte años o más de evolución de la enfermedad y pacientes con demencia frontotemporal variante conductual. MATERIALES Y MÉTODOS: Estudio exploratorio, descriptivo y transversal en una cohorte seleccionada de casos por método no probabilístico. Los datos se analizan por medio de estadísticos no paramétricos. RESULTADOS: Eespecto al grupo control (N:27), los pacientes con demencia frontotemporal (N:24) presentan desempeños significativamente bajos en memoria verbal, funciones ejecutivas, praxias visoconstruccionales y atención (p <0,01). El grupo de trastorno bipolar (N:17) tiene bajos desempeños en estos procesos, pero no presenta fenómenos patológicos significativos asociados a intrusiones y perseveraciones. Entre los grupos clínicos no se identifican diferencias significativas. CONCLUSIÓN: Aunque los grupos clínicos comparten el compromiso en los procesos cognoscitivos evaluados, los desempeños son más bajos en el grupo de demencia frontotemporal, lo que sugiere que en una enfermedad degenerativa de menor tiempo de evolución y aparición en etapa presenil el déficit cognitivo es mayor que en una enfermedad psiquiátrica crónica.
SUMMARY INTRODUCTION: Patients with Bipolar Disorder may present cognitive alterations that in some cases have a progressive course, whereby it has been questioned if the evolution of this disease is associated with dementia, in particular those that belong to the spectrum of frontotemporal lobar degeneration. Thereby, discriminate if a patient has a dementia secondary to the underlying psychiatric illness or if the patient presents a neurode-generative disease besides the bipolar disorder is a challenge for the differential diagnosis. OBJECTIVE: To compare the cognitive performance in a sample of patients with Bipolar Disorder and twenty years or more of disease progression, and patients with behavioral variant of frontotemporal dementia. MATERIALS AND METHODS: Exploratory, descriptive and transversal study in a cohort of cases selected with a non probabilistic method. Dates are compared through non parametric statistics. RESULTS: Relative to Control group (N:27), Frontotemporal Dementia Patients (N:24) have significantly lower performances in verbal memory, executive functions, visoconstructional praxis and attention tasks (p <0,01). Bipolar Disorder group (N:17) has lower performances in this processes but don't present pathological markers such as intrusions and perseverative responses. There are no significant differences when comparing between clinical groups. CONCLUSION: Although clinical groups share the compromise in most of the cognitive process evaluated, the performances are lower in Frontotemporal dementia group, which suggests that in a degenerative disease of less evolution time and onset in presenile stage, the cognitive deficit is greater than in a chronic psychiatric illness.
Subject(s)
Cognition , Frontotemporal Dementia , Bipolar and Related DisordersABSTRACT
Bile Salt Export Pump (BSEP) Deficiency disease, including Progressive Familial Intrahepatic Cholestasis type 2 (PFIC2), is a rare disease, usually leading within the first ten years to portal hypertension, liver failure, hepatocellular carcinoma. Often liver transplantation is needed. Sodium 4-phenylbutyrate (4-PB) seems to be a potential therapeutic compound for PFIC2. Psychiatric side effects in the adolescent population are little known and little studied since the drug used to treat children and infants. So we described a case of Caucasian boy, suffering from a late onset PFIC2, listed for a liver transplant when he was sixteen and treated with 4-FB (200 mg per kilogram of body weight per day). The drug was discontinued for the onset of bipolar and related disorders. This case illustrates possible psychiatric side effects of the drug.