Doença de Machado-Joseph : ratinho transgénico revela alterações relacionadas com a produção de energia das células

A secção Biologia é coordenada pelo Professor Universitário Armindo Rodrigues.A doença de Machado-Joseph (DMJ) e uma doença neuro degenerativa hereditária, que tem habitualmente inicio na idade adulta e que se transmite de um modo dominante. O gene da DMJ designa-se por ATXN3; na sua forma mutada o gene codifica uma proteína alterada que ganha uma função neurotóxica, conduzindo a perda neuronal, em áreas específicas do cérebro. O papel desempenhado pela proteína mutada tem sido extensivamente estudado, mas permanece longe de estar bem esclarecido. Não existe presentemente tratamento específico para a DMJ; apesar dos ensaios clínicos serem uma realidade emergente, urge progredir no conhecimento dos processos implicados na doença. […].info:eu-repo/semantics/publishedVersio

Contributos para o estudo do perfil genético da população da Ilha Graciosa

XI Expedição Científica do Departamento de Biologia - Graciosa 2004.A equipa de Antropologia Biológica tem desenvolvido a sua investigação no sentido de: a) estabelecer o perfil genético das populações açorianas, relacionando a variação obtida com alguns aspectos da estrutura populacional (estudos de genética populacional humana); e b) analisar características particulares que estão envolvidas na dicotomia normal/patológico, estudando a distribuição de patologias genéticas, com o objectivo de perceber os factores que explicam tal distribuição, bem como o seu impacto em termos de Saúde Pública (estudos epidemiológicos)

Machado-Joseph Disease: from first descriptions to new perspectives

Machado-Joseph Disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), represents the most common form of SCA worldwide. MJD is an autosomal dominant neurodegenerative disorder of late onset, involving predominantly the cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems; although sharing features with other SCAs, the identification of minor, but more specific signs, facilitates its differential diagnosis. MJD presents strong phenotypic heterogeneity, which has justified the classification of patients into three main clinical types. Main pathological lesions are observed in the spinocerebellar system, as well as in the cerebellar dentate nucleus. MJD's causative mutation consists in an expansion of an unstable CAG tract in exon 10 of the ATXN3 gene, located at 14q32.1. Haplotype-based studies have suggested that two main founder mutations may explain the present global distribution of the disease; the ancestral haplotype is of Asian origin, and has an estimated age of around 5,800 years, while the second mutational event has occurred about 1,400 years ago. The ATXN3 gene encodes for ataxin-3, which is ubiquitously expressed in neuronal and non-neuronal tissues, and, among other functions, is thought to participate in cellular protein quality control pathways. Mutated ATXN3 alleles consensually present about 61 to 87 CAG repeats, resulting in an expanded polyglutamine tract in ataxin-3. This altered protein gains a neurotoxic function, through yet unclear mechanisms. Clinical variability of MJD is only partially explained by the size of the CAG tract, which leaves a residual variance that should be explained by still unknown additional factors. Several genetic tests are available for MJD, and Genetic Counseling Programs have been created to better assist the affected families, namely on what concerns the possibility of pre-symptomatic testing. The main goal of this review was to bring together updated knowledge on MJD, covering several aspects from its initial descriptions and clinical presentation, through the discovery of the causative mutation, its origin and dispersion, as well as molecular genetics aspects considered essential for a better understanding of its neuropathology. Issues related with molecular testing and Genetic Counseling, as well as recent progresses and perspectives on genetic therapy, are also addressed

Consanguinidade, endogamia e ilegitimidade na Freguesia de São Roque do Pico (Açores).

VI Expedição Científica do Departamento de Biologia - Pico 1991.0s objectivos que estiveram na base do trabalho de campo desenvolvido ao longo desta Expedição relacionaram-se com a recolha de dados acerca dos vários aspectos biodemográficos da ilha do Pico. Uma vez que os registos no Pico não se encontravam devidamente preservados ou organizados, alargou-se a pesquisa à ilha do Faial, onde o material encontrado no Arquivo Municipal da Horta foi posto à disposição pelo Director da Biblioteca Pública. Em resumo, os dados recolhidos incluem extractos de: 1- Registos de casamentos ocorridos na freguesia de São Roque (1876-1911); 2- Registos de baptismos da freguesia de Santa Luzia (1880-1885); 3- Registos de baptismos da freguesia de São Roque (1880-1890); 4- Registos constantes do "Livro de entrada de Expostos" (1779-1828)

Situação da cisticercose humana em Portugal, 1993-1996 : a cisticercose através dos internamentos hospitalares

Analisaram-se os dados respeitantes aos Internamentos Hospitalares em Portugal, com diagnóstico compatível com cisticerse por Taenia solium, no período compreendido entre os anos 1993 e 1996

Da investigação aos ensaios clínicos : desafios e oportunidades para a doença de Machado-Joseph

A secção UAciência é coordenada pelo Professor Universitário Armindo Rodrigues.A União Europeia considera “rara” uma doença que afete menos do que 5 em cada 10000 pessoas. Estão atualmente descritas cerca de 7000 doenças raras, uma parte substancial das quais e de natureza genética e permanece sem tratamento ou cura. A doença de Machado-Joseph (DMJ) e uma doença globalmente rara que tem merecido especial atenção nos Açores, dada a elevada prevalência que atinge nestas ilhas. Apesar da DMJ permanecer sem intervenção farmacológica especifica, vive-se atualmente um período de grande expetativa, dada a emergência recente de resultados relativos aos primeiros ensaios clínicos. A investigação de nível clínico e alicerçada num trabalho “pré-clínico” no qual se usam, habitualmente, modelos animais (tais como o ratinho, vulgarmente designado de murganho), para avaliar e selecionar compostos com potencial suficiente para serem testados em doentes, num ensaio clínico. […].info:eu-repo/semantics/publishedVersio

Indicators of Psychiatric Disorders in Different Oncology Specialties: A Prevalence Study

Objective. This study evaluated the prevalence of various indicators of psychiatric disorders in Brazilian outpatients with cancer and assessed possible associations with sociodemographic indicators. Materials and Methods. A total of 1,385 patients were evaluated using the following instruments: Patient Health Questionnaire-4 (PHQ-4), Generalized Anxiety Disorder (GAD-7), Fagerström Test for Nicotine Dependence (FTND), and Fast Alcohol Screening Test (FAST). Results. The sample was composed of both genders with a slight predominance of women (55.8%), subjects with incomplete/completed elementary school (59%), married (67.4%), with children (94%), not active from a labor viewpoint (61.6%), and following some type of religion (79.5%). The prevalence of anxiety for the total sample varied between 21.5 and 27.4%. The prevalence of depression was 21.1%, tobacco abuse/dependence was 40.2%, and alcohol was 20.3%. Women had significantly higher levels of anxiety and depression than men. Men had higher levels of substance abuse/dependence indicators than women. Conclusion. These results are consistent with the literature, which attests to the high prevalence of psychiatric disorder indicators in cancer patients, especially compared to the general population

Assessment of some atherosclerosis risk factors in apparently healthy subjects from two Azorean populations

XV International Symposium of Atherosclerosis (ISA):Abstract P331.Copyright © 2009 Elsevier Ireland Ltd. All rights reserved.OBJECTIVES: In Azores, the death rate from coronary artery disease (CAD) is about twice than in mainland Portugal. The aim of this study was to assess some major risk factors of atherosclerosis-AT (serum lipid profile and apoB and apoA-1 levels) in subjects from two populations in S. Miguel Island. Hypertension and obesity were also considered. METHODS: The study group was formed by 147 apparently healthy subjects with no chronic diseases, aged 20 to 60 years, born living, respectively, in the villages of Nordeste –ND (53 men and 39 women) and Povoação-PV (22 men and 51 women). Clinical information and life habits were also registered. RESULTS: In both groups about 62% of subjects were hyperlipidemic and 30% obese. Hypertension was observed in about 36% in PV and 43% in the ND group. Both apoB levels and apoB/apoA-1 ratio were significantly higher in ND than in the PV subjects, namely in men (31% and 19%, respectively). Also apoA-1 levels in men were 9% higher in ND than in PV. In the ND group, sex-related differences were found in apoB levels and apoB/apoA-1 ratio, being higher in men. In the PV group, apoA-1 levels were significantly lower (15%) in men than in women. CONCLUSION: Although apparently healthy, most subjects from the two studied populations were hyperlipidemic, mainly due to hypercholesterolemia (TC and LDL-C). However, HDL-C was at high levels (60 mg/dL) in both groups. The coexistence of dyslipidemia, hypertension and obesity (26% of cases in ND and 17% in PV group) can aggravate the risk of developing AT (and CAD), which is higher in ND than in PV, mainly in men. ApoB/apoA-1 ratio revealed to be a simpler index of atherogenic risk than the classic serum lipid profile.Governo Regional dos Açore

Ethnography and the public sphere: summarizing questions

In line with the conference Ethnografeast III. Ethnography and the Public Sphere, from which it stems, this issue aims at equating uses and products of ethnography as they relate with each other within the context of the public sphere. Keeping the conference’s commitment to interdisciplinarity, pluralism in genres and theoretical suasions, it focuses on the way political and civic uses of ethnography enter into the conceptual elaboration of its products, and, conversely, on how the design and implementation of ethnographic research may contribute to enhance public debate.Em linha com a conferência “Ethnografeast III: Etnografia e Esfera Pública”, na qual teve origem, este dossier visa equacionar os usos e os produtos da etnografia e o modo como se articulam entre si na esfera pública. Mantendo os princípios de interdisciplinaridade, de pluralismo nos géneros e nas filiações teóricas que marcaram a conferência, pretende focar a maneira como os usos cívicos e políticos da etnografia podem tomar parte na elaboração conceptual das suas produções e, conversamente, no modo como o desenho e a realização da investigação etnográfica pode contribuir para a qualidade do debate público.Fundação para a Ciência e a Tecnologia (FCT)Wenner-Gren Foundation for Anthropological Research, Center for Research in Anthroplogy (CRIA