Schizophrenia is a severe psychiatric disorder characterized by psychotic symptoms and functional impairment, with recurrent relapses and continuing disability. The risk factors for schizophrenia are indicators currently perceived as epiphenomena of pathophysiological processes resulting from geneenvironment interactions that remain poorly understood 1 . Widespread impairments in brain function and structure have been shown in schizophrenia cases. It is also clear that, to a lesser degree, unaffected family members share many of the neurobiological abnormalities found in affected individuals, which suggests that the alleles that underlie the genetic risk of schizophrenia may primarily exert their effects on intermediate traits such as cerebral structure or function ABSTRACTSchizophrenia is a severe psychiatric disorder with frequent recurrent psychotic relapses and progressive functional impairment. It results from a poorly understood gene-environment interaction. The gene encoding catechol-O-methyltransferase (COMT) is a likely candidate for schizophrenia. Its rs165599 (A/G) polymorphism has been shown to be associated with alteration of COMT gene expression. Therefore, the present study aimed to investigate a possible association between schizophrenia and this polymorphism. The distribution of the alleles and genotypes of this polymorphism was investigated in a Brazilian sample of 245 patients and 834 controls. The genotypic frequencies were in Hardy-Weinberg equilibrium and no statistically significant differences were found between cases and controls when analyzed according to gender or schizophrenia subtypes. There was also no difference in homozygosis between cases and controls. Thus, in the sample studied, there was no evidence of any association between schizophrenia and rs165599 (A/G) polymorphism in the non-coding region 3' of the COMT gene.Key words: enzyme, genetics, psychosis, schizophrenia. RESUMOA esquizofrenia é um grave transtorno psiquiátrico que apresenta freqüentes recorrências psicóticas e incapacitação progressiva. Resulta de uma interação gene-ambiente ainda pouco compreendida. O gene da catecol-O-metiltransferase (COMT) é considerado um possível candidato para esquizofrenia. O polimorfismo genético rs165599 (A/G) da COMT foi associado com alteração da expressão do seu gene. Assim, o presente trabalho tem como objetivo investigar a possível associação de tal polimorfismo com esquizofrenia. A distribuição de seus alelos e genótipos foi investigada em uma amostra brasileira composta de 245 pacientes e 834 controles. As frequências genotípicas estavam em equilíbrio de Hardy-Weinberg e não se encontrou diferença estatisticamente significante entre casos e controles, quando analisados por gênero e subtipos da esquizofrenia. Não houve também diferença de homozigosidade entre casos e controles. Desse modo, na amostra estudada, não houve evidência de associação entre esquizofrenia e o polimorfismo rs165599 (A/G) localizado na região 3' não codificadora do gene da COMT.Palavras-Chave: enzima, gené...
RJ. / Head of the histopathology sector of the Santa Casa Dermatology institute, Rio de Janeiro state. 3 Alunos do Curso de Pós-Graduação em Dermatologia. / Students of the Postgraduate program in Dermatology. ©2 0 0 4 by Anais Brasileiros de DermatologiaResumo: O melanoma do aparelho ungueal é apresentação relativamente rara dessa neoplasia, muitas vezes diagnosticada como nevo juncional, hematoma subungueal ou mesmo onicomicose. Esse fato leva a um atraso no diagnóstico e, conseqüentemente, na instituição da terapêutica específica, contribuindo para agravar o prognóstico de uma doença que por si só já é muito agressiva. Os autores relatam um caso de melanoma no primeiro quirodáctilo esquerdo de uma paciente negra com evolução de um ano, ressaltando a importância de avaliar certos critérios clínicos para obter o diagnóstico em fases mais precoces da doença. Palavras-chave: doenças da unha; melanoma; neoplasias.Abstract: Nail apparatus melanoma is a rare presentation of melanoma and may be misdiagnosed as junctional nevus, subungual hematoma or onychomycosis. This fact often leads initially to inappropriate treatment and significant delays in appropriately managing such an aggressive disease. The authors report a case of melanoma on the left thumb of a black patient evolving for a year. Emphasis was placed on the importance of assessing certain clinical characteristics in order to reach an early diagnosis.
Background Adolescents in low-resource urban settings in Brazil are often exposed to high levels of trauma that can result in post-traumatic stress disorder (PTSD). However, preliminary evidence indicates that PTSD tends to be under-reported in Brazilian health services, despite the high prevalence of trauma. Additionally, little is known about the perceived applicability among clinicians of the new ICD-11 diagnosis of complex PTSD (CPTSD), despite its potential relevance for contexts of chronic trauma. The current study investigated local understandings of PTSD and CPTSD among health professionals working with adolescents in violent neighbourhoods of São Paulo city. Methods Semi-structured interviews were conducted with 58 health professionals working at both the primary care and specialized mental health levels in two areas of São Paulo city with high levels of community violence. Results Most participants knew about PTSD, but most did not know about CPTSD. There were mixed views concerning the commonality of PTSD among adolescents exposed to community violence. Many participants reported having no experience working with patients with the PTSD diagnosis. According to some, community violence was normalized by adolescents and health professionals, and did not result in PTSD. Others highlighted how they did not use psychiatric diagnoses in their practice, had critical perspectives towards psychiatric diagnoses and/or PTSD, or simply knew little about PTSD. Furthermore, many highlighted how the chronic nature of multiple traumas experienced by adolescents often resulted in complex clinical presentations characterised by many symptoms beyond PTSD. The diagnosis of CPTSD was considered appropriate to the context by many participants as it captured the complex traumatic histories and symptom presentations of adolescents exposed to community violence in Brazil. Conclusions These findings have important implications for the assessment and treatment of mental health among adolescents exposed to community violence in Brazil.
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