RESUMO
O presente trabalho é um relato de experiência do estágio curricular de Oficina de Criatividade, realizado com população de rua. Esta modalidade de intervenção visa atender populações que normalmente estão à margem dos serviços tradicionais de psicologia. Utiliza técnicas expressivas como meio de acesso às experiências humanas e sua finalidade é favorecer a transformação das relações e ampliar o horizonte existencial de cada integrante. A perspectiva teórica adotada a respeito do trabalho com população de rua pressupõe o distanciamento da patologização dos comportamentos desviantes e moralmente estabelecidos e prioriza a valorização, a aproximação e o reconhecimento dos diferentes modos de ser e estar no mundo. A experiência aqui descrita atendeu a este propósito na medida em que os participantes puderam refletir e compartilhar seus saberes, histórias e cultura, sentindo-se valorizados para reconhecer ou construir e comunicar seu posicionamento crítico a respeito de certa institucionalização concreta e cultural dos serviços socioassistenciais e psicológicos direcionados a este público. Desde modo, entendemos que a Oficina de Criatividade favoreceu mútuas afetações entre pesquisador, pesquisado e instituição, num exercício de ressignificação sobre o fazer psicológico e seu potencial transformador.(AU)
This work is a traineeship experience report of Creativity Workshop, conducted with homeless people. This type of intervention needs to serve populations that are frequently beyond the traditional psychology services. Uses expressive techniques as a means to human experience and its purpose is to promote the transformation of relationships and expand the existential horizon of each participant. The theoretical perspective adopted about work with homeless people sought to distance from the pathologizing of different behavior and morally established and prioritize the valuation, approximation and recognition of different ways of being in the world. The experience described here has served this purpose insofar as the participants were able to reflect and share their knowledge, histories and culture, feeling appreciated recognizing or constructing and communicating their critical position regarding a certain concrete and cultural institutionalization of social welfare and psychological services directed to this public. Thus, we understand that the Creativity Workshop favored common affectations between researcher, researched and institution, in an exercise of ressignification about the psychological doing and its transforming potential.(AU)
Assuntos
Humanos , Psicologia , Pessoas Mal Alojadas , CriatividadeRESUMO
Defects in iron-sulphur [Fe-S] cluster biogenesis are increasingly recognized as causing neurological disease. Mutations in a number of genes that encode proteins involved in mitochondrial [Fe-S] protein assembly lead to complex neurological phenotypes. One class of proteins essential in the early cluster assembly are ferredoxins. FDX2 is ubiquitously expressed and is essential in the de novo formation of [2Fe-2S] clusters in humans. We describe and genetically define a novel complex neurological syndrome identified in two Brazilian families, with a novel homozygous mutation in FDX2. Patients were clinically evaluated, underwent MRI, nerve conduction studies, EMG and muscle biopsy. To define the genetic aetiology, a combination of homozygosity mapping and whole exome sequencing was performed. We identified six patients from two apparently unrelated families with autosomal recessive inheritance of a complex neurological phenotype involving optic atrophy and nystagmus developing by age 3, followed by myopathy and recurrent episodes of cramps, myalgia and muscle weakness in the first or second decade of life. Sensory-motor axonal neuropathy led to progressive distal weakness. MRI disclosed a reversible or partially reversible leukoencephalopathy. Muscle biopsy demonstrated an unusual pattern of regional succinate dehydrogenase and cytochrome c oxidase deficiency with iron accumulation. The phenotype was mapped in both families to the same homozygous missense mutation in FDX2 (c.431C > T, p.P144L). The deleterious effect of the mutation was validated by real-time reverse transcription polymerase chain reaction and western blot analysis, which demonstrated normal expression of FDX2 mRNA but severely reduced expression of FDX2 protein in muscle tissue. This study describes a novel complex neurological phenotype with unusual MRI and muscle biopsy features, conclusively mapped to a mutation in FDX2, which encodes a ubiquitously expressed mitochondrial ferredoxin essential for early [Fe-S] cluster biogenesis.
Assuntos
Ferredoxinas/genética , Ferredoxinas/fisiologia , Adolescente , Adulto , Brasil , Criança , Complexo IV da Cadeia de Transporte de Elétrons/metabolismo , Feminino , Homozigoto , Humanos , Ferro/metabolismo , Proteínas Ferro-Enxofre/genética , Proteínas Ferro-Enxofre/fisiologia , Leucoencefalopatias/metabolismo , Masculino , Mitocôndrias/metabolismo , Proteínas Mitocondriais/genética , Doenças Musculares/genética , Mialgia/genética , Atrofia Óptica/genética , Linhagem , Fenótipo , Succinato Desidrogenase/metabolismo , Síndrome , Sequenciamento do ExomaRESUMO
SPOAN syndrome is a neurodegenerative disorder mainly characterized by spastic paraplegia, optic atrophy and neuropathy (SPOAN). Affected patients are wheelchair bound after 15 years old, with progressive joint contractures and spine deformities. SPOAN patients also have sub normal vision secondary to apparently non-progressive congenital optic atrophy. A potential causative gene was mapped at 11q13 ten years ago. Here we performed next-generation sequencing in SPOAN-derived samples. While whole-exome sequencing failed to identify the causative mutation, whole-genome sequencing allowed to detect a homozygous 216-bp deletion (chr11.hg19:g.66,024,557_66,024,773del) located at the non-coding upstream region of the KLC2 gene. Expression assays performed with patient's fibroblasts and motor neurons derived from SPOAN patients showed KLC2 overexpression. Luciferase assay in constructs with 216-bp deletion confirmed the overexpression of gene reporter, varying from 48 to 74%, as compared with wild-type. Knockdown and overexpression of klc2 in Danio rerio revealed mild to severe curly-tail phenotype, which is suggestive of a neuromuscular disorder. Overexpression of a gene caused by a small deletion in the non-coding region is a novel mechanism, which to the best of our knowledge, was never reported before in a recessive condition. Although the molecular mechanism of KLC2 up-regulation still remains to be uncovered, such example adds to the importance of non-coding regions in human pathology.
Assuntos
Expressão Gênica , Proteínas Associadas aos Microtúbulos/genética , Atrofias Ópticas Hereditárias/genética , Deleção de Sequência , Paraplegia Espástica Hereditária/genética , Animais , Cromossomos Humanos Par 11 , Análise Mutacional de DNA , Neuropatia Hereditária Motora e Sensorial/genética , Humanos , Cinesinas , Síndrome , Peixe-Zebra , Proteínas de Peixe-Zebra/genéticaRESUMO
INTRODUCTION: SPOAN (spastic paraplegia, optic atrophy, and neuropathy) syndrome is an autosomal recessive neurodegenerative disorder identified in a large consanguineous Brazilian family. METHODS: Twenty-seven patients with SPOAN syndrome (20 women), aged 4-58 years, underwent nerve conduction studies (NCS) of the median, ulnar, tibial, and fibular nerves, and sensory NCS of the median, ulnar, radial, sural, and superficial fibular nerves. RESULTS: Sensory nerve action potentials were absent in the lower limbs and absent in >80% of upper limbs. Motor NCS had reduced amplitudes and borderline velocities in the upper limbs and absent compound muscle action potentials (CMAPs) in the lower limbs. CONCLUSIONS: The neuropathy in SPOAN syndrome is a severe, early-onset sensory-motor axonal polyneuropathy. Normal NCS seem to rule-out this condition.
Assuntos
Potenciais de Ação/fisiologia , Transtornos Heredodegenerativos do Sistema Nervoso/fisiopatologia , Condução Nervosa/fisiologia , Atrofia Óptica/fisiopatologia , Paraplegia/fisiopatologia , Adolescente , Adulto , Brasil , Criança , Pré-Escolar , Estudos Transversais , Feminino , Transtornos Heredodegenerativos do Sistema Nervoso/etnologia , Transtornos Heredodegenerativos do Sistema Nervoso/genética , Humanos , Masculino , Nervo Mediano/fisiopatologia , Pessoa de Meia-Idade , Atrofia Óptica/etnologia , Atrofia Óptica/genética , Paraplegia/etnologia , Paraplegia/genética , Nervo Fibular/fisiopatologia , Nervo Radial/fisiopatologia , Nervo Sural/fisiopatologia , Síndrome , Nervo Ulnar/fisiopatologia , Adulto JovemRESUMO
UNLABELLED: Diabetic polyneuropathy can be confirmed by nerve conduction studies. The data can be analyzed in the form of a combined index instead of individual parameters. METHODS: The combined index included five parameters of nerve conduction studies commonly used for evaluation of polyneuropathies. We evaluated sensitivity in 100 diabetic patients with suspected polyneuropathy, and specificity in 200 non-diabetic patients with suspected lumbosacral radiculopathy. All results were expressed in number of standard deviations (SD). RESULTS: The sensitivity of the combined index was 81 or 74%, and specificity was 97 or 98%, using respectively -2.0 or -2.5 SD as cutoff. The range of sensitivity of the other parameters was 57-65% or 48-56%, and specificity range was 96-98% or 98-100%, using the same criteria. DISCUSSION: The combined index had higher sensitivity and equivalent specificity compared to isolated parameters.
Assuntos
Neuropatias Diabéticas/diagnóstico , Condução Nervosa/fisiologia , Nervos Periféricos/fisiopatologia , Adulto , Idoso , Estudos de Casos e Controles , Neuropatias Diabéticas/fisiopatologia , Eletrodiagnóstico/instrumentação , Eletrodiagnóstico/métodos , Eletrofisiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Sensibilidade e Especificidade , Adulto JovemRESUMO
Diabetic polyneuropathy can be confirmed by nerve conduction studies. The data can be analyzed in the form of a combined index instead of individual parameters. METHODS: The combined index included five parameters of nerve conduction studies commonly used for evaluation of polyneuropathies. We evaluated sensitivity in 100 diabetic patients with suspected polyneuropathy, and specificity in 200 non-diabetic patients with suspected lumbosacral radiculopathy. All results were expressed in number of standard deviations (SD). RESULTS: The sensitivity of the combined index was 81 or 74%, and specificity was 97 or 98%, using respectively -2.0 or -2.5 SD as cutoff. The range of sensitivity of the other parameters was 57-65% or 48-56%, and specificity range was 96-98% or 98-100%, using the same criteria. DISCUSSION: The combined index had higher sensitivity and equivalent specificity compared to isolated parameters.
A polineuropatia diabética pode ser confirmada por estudos de condução nervosa. Os dados podem ser analisados por um índice combinado ao invés de parâmetros isolados. MÉTODOS: O índice combinado incluiu cinco parâmetros usados rotineiramente na avaliação de polineuropatias. Avaliamos a sensibilidade em 100 pacientes diabéticos com suspeita de polineuropatia e a especificidade em 200 pacientes não diabéticos com suspeita de radiculopatia lombossacral. Todos os resultados foram expressos em número de desvios-padrão (DP). RESULTADOS: A sensibilidade do índice combinado foi 81 ou 74%, e a especificidade foi 97 ou 98%, usando respectivamente -2,0 ou -2,5 DP como ponto de corte. A sensibilidade dos parâmetros isolados oscilou entre 57-65% ou 48-56%, e a especificidade foi 96-98% ou 98-100%, usando os mesmos critérios. DISCUSSÃO: O índice combinado apresentou melhor sensibilidade e especificidade equivalente aos parâmetros isolados.
Assuntos
Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Neuropatias Diabéticas/diagnóstico , Condução Nervosa/fisiologia , Nervos Periféricos/fisiopatologia , Estudos de Casos e Controles , Neuropatias Diabéticas/fisiopatologia , Eletrofisiologia , Eletrodiagnóstico/instrumentação , Eletrodiagnóstico/métodos , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
Avaliaram-se 200 unidades de mexilhões (Perna perna) cultivados em sistemas longline na Baía de Ilha Grande, a fim de avaliar a presença de Vibrio spp. As amostras foram analisadas e submetidas a enriquecimento em água peptonada alcalina adicionada de 1% de NaCl, incubadas a 37ºC por 24 horas. Em seguida, os cultivos foram semeados em Agar tiossulfato citrato bile sacarose e as colônias suspeitas foram submetidas à caracterização bioquímica. Vibrio alginolyticus, V. harveyi e V. cincinnatiensis representaram as principais espécies (>70%) isoladas dos mexilhões in natura.
Assuntos
Bivalves/microbiologia , Contaminação de Alimentos , Microbiologia de Alimentos , Amostras de Alimentos , Frutos do Mar , Vibrio/patogenicidade , Brasil , Vibrio/isolamento & purificaçãoRESUMO
Avaliaram-se 200 unidades de mexilhões (Perna perna) cultivados em sistemas longline na Baía de Ilha Grande, a fim de avaliar a presença de Vibrio spp. As amostras foram analisadas e submetidas a enriquecimento em água peptonada alcalina adicionada de 1% de NaCl, incubadas a 37ºC por 24 horas. Em seguida, os cultivos foram semeados em Agar tiossulfato citrato bile sacarose e as colônias suspeitas foram submetidas à caracterização bioquímica. Vibrio alginolyticus, V. harveyi e V. cincinnatiensis representaram as principais espécies (>70%) isoladas dos mexilhões in natura.(AU)
Two hundred mussels (Perna perna) samples cultivated in longline system at Ilha Grande Bay, were evaluated in order to investigate the presence of Vibrio spp. The samples were analyzed and subjected to enrichment in alkaline peptone water with the addition of 1% NaCI and incubated at 37°C for 24 hours. Following this, the cultures were seeded onto thiosulfate citrate bile sucrose agar (TCBS) and the suspected colonies were subjected to biochemical characterization. Vibrio alginolyticus, V. harveyi and V. cincinnaiiensis were the main species (>70%) isolated from raw mussels. (AU)