RESUMO
Background: Among various psychiatric disorders, depression is one of the most frequently encountered intoday’s world. Depression confers a significant risk of recurrence in the subsequent years following the firstepisode. In order to deal this disorder, it is crucial to comprehend the pathogenesis and properly implement theavailable management options. Objectives: We intend to explore the pathogenesis and patho-physiology ofdepression and highlight the available methods to treat and manage this psychiatric disorder including bothpharmacotherapy and psychotherapy. Methods: A review of relevant articles published from 1988 till date inEnglish language was done using the electronic databases of PubMed, Pico and, Google Scholar with presetkeywords. Conclusion: Depression is a highly prevalent psychiatric disorder that requires a multidimensionalapproach. The pathogenesis of depression comprises of 30-40% genetic contribution and about 60-70%environmental factors. Environmental factors include stressful life events at any point in an individual’s lifetimeand alter the stress response by the hypothalamic-pituitary-adrenal axis. The patho-physiology of depressioninvolves altered brain structure and function in addition to modified levels of neurotransmitters. Serotonin andits precursor tryptophan are decreased in the brain in depression in addition to various changes incatecholamines i.e. dopamine and norepinephrine. The treatment of depression is recommended by acombination of psychotherapy and pharmacotherapy which has higher efficacy than either therapy alone. Thepreferred forms of psychotherapy include interpersonal psychotherapy and cognitive behavioral therapy. Themost commonly used pharmacotherapy include SSRIs, which are the most efficacious and tolerableantidepressants while other second generation antidepressants such as SNRI, TCA and MOA inhibitors,mirtazapine and trazodone are chosen on the basis of patient preference, cost, comorbidities and side effectprofile.
RESUMO
Objective To understand the genetic and environmental influences on the relationship between attention deficit and anxiety/depression in children and adolescents.Methods A total of 1 062 same-sex twins aged 6-18 years were included in this study.A parent-rated child behavior checklist (CBCL) was used in the assessment.Software Mx was used to fit the univariate model of structural equation.The relationship between attention deficit and anxiety/depression was analyzed through bivariate genetic modeling.Results The genetic factor had influence on the relationship between attention deficit and anxiety/depression (rg=0.48).Shared and non-shared environmental correlation scores of attention deficit and anxiety/depression were 0.86 and 0.14 respectively.Conclusion Common genetic and shared environmental influences can explain the relationship between attention deficit and anxiety/depression in children and adolescents.
RESUMO
Objective To understand the genetic and environmental influences on the relationship between attention deficit and anxiety/depression in children and adolescents.Methods A total of 1 062 same-sex twins aged 6-18 years were included in this study.A parent-rated child behavior checklist (CBCL) was used in the assessment.Software Mx was used to fit the univariate model of structural equation.The relationship between attention deficit and anxiety/depression was analyzed through bivariate genetic modeling.Results The genetic factor had influence on the relationship between attention deficit and anxiety/depression (rg=0.48).Shared and non-shared environmental correlation scores of attention deficit and anxiety/depression were 0.86 and 0.14 respectively.Conclusion Common genetic and shared environmental influences can explain the relationship between attention deficit and anxiety/depression in children and adolescents.
RESUMO
INTRODUCCIÓN: en Cuba, ha sido una prioridad para la Genética Médica abordar el estudio de enfermedades complejas y en particular de la Diabetes Mellitus, por su alta prevalencia en el país. OBJETIVO: determinar la interacción del genoma y el ambiente en la aparición de la Diabetes Mellitus Tipo 2. MÉTODOS: se realizó una investigación observacional analítica de casos y controles con base poblacional, en el periodo abril 2012 a abril 2014, en el municipio Plaza de la Revolución de la provincia La Habana. En una muestra de 52 pacientes y 104 sujetos sanos apareados por la edad y la zona geográfica de residencia con los casos, en proporción 2:1. Para explorar los factores ambientales se recogió información de los sujetos sobre: actividad física, sedentarismo, obesidad, dieta rica en grasas saturadas, dieta rica en azúcares refinados, consumo de vegetales, consumo de alcohol y tabaquismo. Para determinar los factores genéticos se recogieron los antecedentes de familiares de primer, segundo, tercer y cuarto grado afectados. RESULTADOS: se determinó que un individuo que presente antecedentes familiares de primer grado, tiene un riesgo 3,25 veces más de presentar la enfermedad que aquel que no lo presente. Al analizar la interacción del genoma y el ambiente se pudo observar que los factores ambientales incrementaron el riesgo genético de padecer Diabetes Mellitus Tipo 2 aproximadamente 2 veces. Los resultados son un punto de partida para establecer a nivel de atención primaria, una estrategia de prevención de la enfermedad en el marco del asesoramiento genético dirigido a las familias afectadas. CONCLUSIONES: la interacción genoma-ambiente incrementa el riesgo de padecer la enfermedad si se compara con el riesgo atribuible por ambos factores: genético y ambiental de manera independiente. Se evidencia que la DM tipo 2 no solo es un ejemplo de interacción genoma ambiente, sino de interacción gen-gen, pues muchos genes descritos para la obesidad son comunes a los genes que se han estudiado para la DM tipo 2, y para los síndromes de resistencia insulínica.
INTRODUCTION: addressing the study of complex diseases, particularly diabetes mellitus, has been a medical genetics priority in Cuba due to the high prevalence of disease nationwide. OBJECTIVE: to determine the interaction of the genome and the environment in occurrence of type 2 diabetes mellitus. METHODS: observational analytical population-based case and control study conducted in the period of April 2012 to April 2014 in Plaza de la Revolucion municipality, La Habana province. The sample was made up of 52 patients and 104 healthy subjects paired by age and location of residents with the cases in 2:1 ratio. For the screening of environmental factors, information was gathered from the subjects about physical activity, sedentary lifestyle, obesity, saturated fat-rich diet, and refined sugar-rich diet, consumption of vegetables, alcohol-taking and smoking. for identification of genetic factors, the histories of 1st, 2nd, 3rd and 4th degree relatives, who were affected, were taken. RESULTS: it was determined that the risk of suffering diabetes in a subject with a family history of disease in his first degree relatives is 3.25 times higher than that one who does not. When analizing the interaction between the genome and the environment, one could observe that the environmental factors increased the genetic risk of having type 2 diabetes mellitus by 2 times approximately. These results are starting point to draw a preventive strategy of the disease at the primary health care within the genetic counseling program aimed at the affected families. CONCLUSIONS: the genome-environment interaction increases the risk of diabetes if compared with the attributable risk of both factors, genetic and environment, independently. It was evidenced that type 2 diabetes mellitus is not only an example of genome-environment interaction but gen-gen interaction as well, since many genes described for obesity are the same as the ones studied for type 2 diabetes mellitus and for insulin-resistance syndromes.
Assuntos
Humanos , Fatores de Risco , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/epidemiologia , Estudos de Casos e Controles , Estudo ObservacionalRESUMO
Se efectuó un estudio analítico de casos y controles de los pacientes nacidos entre 1928-1979 con diabetes mellitus de tipo 2, pertenecientes al Policlínico Docente "José Martí Pérez" de Santiago de Cuba, desde enero hasta junio del 2012, a fin de proponer una estrategia preventiva educativa para la interacción genoma-ambiente en los afectados. Fueron seleccionados 76 casos y 152 controles mediante un muestreo aleatorio simple y la técnica de densidad por apareamiento (2:1), según edad, sexo y lugar de residencia. Se obtuvo un genoma predisponente con factores ambientales adversos en la aparición de la enfermedad, aunque existía una adecuada percepción del riesgo de enfermar en los controles y un elevado conocimiento sobre las complicaciones de la citada afección en los casos; por tanto, la estrategia propuesta puede contribuir a elevar el conocimiento de los factores de riesgo genéticos y ambientales asociados a la diabetes mellitus de tipo 2, así como disminuir la incidencia de la enfermedad en esta área de salud.
An analytic cases and controls study of the patients born from 1928 to 1979 with diabetes mellitus type 2, belonging to «José Martí Pérez¼ Teaching Polyclinic was carried out in Santiago de Cuba from January to June, 2012, in order to propose an educational preventive strategy for the interaction genoma-environment in the affected patients. Seventy six cases and 152 controls were selected by means of a single random sampling and the technique of density through mating (2:1), according to age, sex and residence place. A predisposing genoma with adverse environmental factors was obtained in the emergence of the disease, although an appropriate perception of the risk of becoming sick existed in the controls and a high knowledge on the complications of the mentioned disorder in the cases; therefore, the proposed strategy can contribute to elevate the knowledge of the genetic and environmental risk factors associated with the diabetes mellitus type 2, as well as to decrease the incidence of the disease in this health area.
RESUMO
Se efectuó un estudio analítico y observacional de casos y controles en el área de salud perteneciente al Policlínico "Josué País García" de Santiago de Cuba, durante el trimestre de septiembre a noviembre del 2010, con vistas a determinar la interacción genoma-ambiente en la aparición de la diabetes mellitus de tipo 2. El grupo de estudio contempló a 80 integrantes con dicha enfermedad, seleccionados mediante muestreo aleatorio simple; y el tomado como control, 160 personas sin ella. Se aplicó la prueba de Ji al cuadrado, con un nivel de significación de 0,05, y se calculó la oportunidad relativa para evaluar la magnitud de asociación entre las variables. Los factores de riesgo más significativos resultaron ser la obesidad y el sedentarismo, así como la existencia de la afección en familiares de primer grado en los integrantes del grupo de casos. Asimismo, se evidenció la interacción de un genoma predisponente con los factores ambientales adversos, por lo que se recomienda trabajar en la atención primaria de salud sobre la base de los agentes de riesgo conocidos, que pueden influir en la inicio de esta entidad clínica.
An analytic and observational study of cases and controls was carried out in the health area belonging to "Josué País García" Polyclinic in Santiago de Cuba, during the trimester from September to November, 2010, with the purpose of determining the interaction genome-environment in the ocurrence of type 2 diabetes mellitus. The study group was constituted by 80 patients with this disease, selected by means of simple random sampling; and the control group included 160 people without it. The X² test, with 0,05 significance level was applied, and the odds ratio was calculated to evaluate the association magnitude between the variables. The most significant risk factors were obesity and sedentary lifestyle, as well as the existence of the disorder in first degree relatives from patients of the case group. Likewise, the interaction of a predisposing genome with the adverse environmental factors was evidenced, for what it is recommended to work in the primary health care on the base of the well-known risk agents which may influence in the beginning of this clinical entity.