ABSTRACT
In the present paper, we investigated the 5HTTLPR and STin2 polymorphisms in the promoter region of the serotonin transporter gene (SLC6A4), the G861C polymorphism (rs6296) of the serotonin receptor 1D beta (HTR1B), the T102C (rs6113) and C516T (rs6305) polymorphisms of the serotonin receptor gene subtype 2A (HTR2A), the DAT UTR, DAT intron 8 and DAT intron 14 of the dopamine transporter gene (SLC6A3), the Val-158-Met (rs4680) polymorphism of the COMT and the silent mutation G1287A (rs5569) in the norepinephrine transporter gene (SLC6A2). We genotyped 41 obsessive-compulsive disorder (OCD) outpatients, classified as good-responders (n=27) and poor-responders (n=14) to treatment with clomipramine according to the Yale Brown Obsessive-Compulsive Scale (YBOCS). Patients who achieved a reduction in symptoms of 40 percent or more in YBOCS after 14 weeks of treatment were considered good-responders. Genotypes and alleles distribution of the investigated polymorphisms were compared between both groups. We did not find association between the studied polymorphisms and clomipramine response in our sample.
No presente estudo, investigaram-se os polimorfismos 5HTTLPR e STin2 da região promotora do gene transportador de serotonina (SLC6A4), o G861C (rs6296) do receptor de serotonina 1D beta (HTR1B), os polimorfismos T102C (rs6113) e C516T (rs6305) do gene do receptor da serotonina subtipo 2A (HTR2A), os polimorfismos UTR, intron 8 e intron 14 do gene transportador de dopamina (SLC6A3), o Val-158-Met (rs4680) da COMT e a mutação G1287A (rs5569) do gene do transportador de norepinefrina (SLC6A2). Foram genotipados 41 pacientes com transtorno obsessivo-compulsivo (TOC), classificados como bons-respondedores (n=27) e maus-respondedores (n=14) ao tratamento com clomipramina, por meio do uso da Escala de Sintomas Obsessivos-Compulsivos Yale Brown (YBOCS). Foram considerados bons-respondedores os pacientes que tiveram redução nos sintomas em 40 por cento ou mais na YBOCS, após 14 semanas de tratamento. A distribuição dos genótipos e alelos estudados foi comparada entre os dois grupos. Não foi encontrada associação entre estes polimorfismos investigados e a resposta à clomipramina na amostra estudada.
Subject(s)
Adult , Female , Humans , Male , Young Adult , Antidepressive Agents, Tricyclic/therapeutic use , Clomipramine/therapeutic use , Dopamine Plasma Membrane Transport Proteins/genetics , Norepinephrine Plasma Membrane Transport Proteins/genetics , Obsessive-Compulsive Disorder/genetics , Receptors, Serotonin/genetics , Serotonin Plasma Membrane Transport Proteins/genetics , Gene Frequency , Genotype , Mutation , Obsessive-Compulsive Disorder/drug therapy , Polymorphism, GeneticABSTRACT
Introduction: Obsessive-Compulsive Spectrum Disorders include Obsessive-Compulsive Disorder (OCD), Tourette's Disorder (TS), Body Dysmorphic Disorder (BDD) and Trichotillomania (TTM), which, supposedly, share common psychopathological, physiopathological and genetic aspects. To date, the relation of OCD and TS is the most established. Recent studies suggest that patients with OCD and TS have a better response to serotonin reuptake inhibitors (SRI) plus neuroleptics than to SRI alone. Thus, the detection of patients with OCD and tics is important, once it can point to a different psychopharmacological approach. Similarly, the recognition of other psychiatric disorders associated to OCD could indicate important factors in treatment response. This study compares psychiatric comorbidity in patients with OCD and OCD plus TS, with the following hypotheses: 1) The group with both TS and OCD would be at significant risk for greater severity and frequency of associated disorders; 2) TTM would be more frequent in the OCD plus TS group, whereas BDD would be more frequent in the OCD group. Method: Twenty outpatients with OCD and twenty with OCD plus TS (DSM-III-R) were evaluated by the Standar Clinical Interview for the DSM-III-R (SCID) and additional modules designed by the authors for the diagnosis of TS, Chronic Motor Tics, BDD, TTM and Attention Deficit Disorder. Results: 1) Within groups: In the OCD group, the most frequent diagnoses were:...
Subject(s)
Humans , Male , Female , Adolescent , Adult , Comorbidity , Obsessive-Compulsive Disorder/epidemiology , Tourette Syndrome/epidemiology , Obsessive-Compulsive Disorder/diagnosis , Obsessive-Compulsive Disorder/physiopathology , Tourette Syndrome/diagnosis , Tourette Syndrome/physiopathologyABSTRACT
No período de agosto de 1989 a fevereiro de 1992, 32 pacientes foram submetidos a reconstruçoes vasculares utilizando-se condutos de pericárdio bovino corrugado preservado em glutaraideído. A incorporaçao do principio crimping utilizado nas próteses vasculares sintéticas proporcionou tubos que mantêm sua forma cilíndrica, mesmo quando submetidos a curvaturas. Vinte e nove pacientes (Grupo I) eram portadores de doenças da aorta torácica e/ou abdominal, incluindo aneurismas, dissecçoes agudas, coarctaçao da aorta e lesao oclusiva aorto-ilíaca. A reconstruçao da aorta torácica foi realizada em 25 pacientes (incluindo a substituiçao da valva aórtica em 10), da aorta abdominal em 2 e aorto-ilíaca em 2. Três pacientes (Grupo II), portadores de cardiopatias congênitas complexas, foram submetidos a reconstruçao da via de saida do ventrículo direito em 2 e a operaçao de Fontan em 1. A mortalidade hospitalar no Grupo I foi 24 por cento (7 pacientes), causada por baixo débito cardíaco em 4, recidiva precoce da dissecçao em dois e infecçao respiratória em 1. Seis destes óbitos ocorreram em pacientes operados na fase aguda de dissecçao aórtica. Nao houve nenhum óbito no Grupo II. Houve um óbito tardio no Grupo I devido a complicaçoes metabólicas relacionadas a diabetes e insuficiência renal crônica. Esta experiência clínica inicial registrou um seguimento médico de 16 meses por paciente, com um máximo de 32 meses e nao se verificou nenhuma complicaçao tardia relacionada ao conduto de pericárdio bovino corrugado.