A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

Inclusion body myopathy associated with Paget disease and frontotemporal dementia (IBMPFD) is a progressive and usually misdiagnosed autosomal dominant disorder. It is clinically characterized by a triad of features: proximal and distal myopathy, early onset Paget disease of bone (PDB), and frontotemporal dementia (FTD). It is caused by missense mutations in the valosin-containing protein (VCP) gene. We describe here the clinical and molecular findings of the first Brazilian family identified with IBMPFD. Progressive myopathy affecting the limb girdles was detected by clinical examination followed by muscle biopsy and creatine kinase measurement. PDB was suggested after anatomopathological bone examination and FTD was diagnosed by clinical, neuropsychological and language evaluations. Brain magnetic resonance revealed severe atrophy of the anterior temporal lobes, including the hippocampi. A R93C mutation in VCP was detected by direct sequencing screening in subject W (age 62) and in his mother. Four more individuals diagnosed with "dementia" were reported in this family. We also present a comprehensive genotype-phenotype correlation analysis of mutations in VCP in 182 patients from 29 families described in the literature and show that while IBM is a conspicuously penetrant symptom, PDB has a lower penetrance when associated with mutations in the AAAD1 domain and FTD has a lower penetrance when associated with mutations in the Junction (L1-D1) domain. Furthermore, the R93C mutation is likely to be associated with the penetrance of all the clinical symptoms of the triad

Multicenter Adaptation Of The Guide Autonomous Management Of Medication

Rising psychotropic prescriptions and low empowerment of mental health users hamper qualified delivery of mental health services in Brazil and countries providing universal healthcare. This multicentric study performed in three Brazilian cities aimed to develop the Brazilian translation and adaptation upon the Quebecoise-Canadian Gaining Autonomy and Medication (GAM) Guide; and to evaluate the impact of its use on mental health workers education. Intervention Groups (IGs) were held to provide experience sharing on medication as relevant issues were brought up by the guide. Pre- and post- IGs focus groups were held. Major changes to the original text of the Quebecoise handbook were necessary according to the Brazilian scenario. Results show the Brazilian version as a powerful strategy to promote users' participation in decision making concerning treatment as well as the mental health services they are in treatment at. The handbook also has a positive impact on staff education.1643967980Secretaria Municipal de Campinas (2010) Informações da Secretaria Municipal de Campinas Departamento de Saúde, Saúde Mental, , CAMPINASCampos, G.W.S., (2000) Um Método Para Análise E Co-gestão De Coletivos - a Construção Do Sujeito, a Produção De Valor De Uso E a Democracia Em Instituições: O Método Da Roda, , São Paulo: HucitecCampos, G.W.S., Onocko, R.C., Co-construção de autonomia: O sujeito em questão (2005) A Construção Da Clínica Ampliada Na Atenção Básica, pp. 86-107. , CAMPOS, G.W.SMINAYO, M.C.SAKERMAN, M.CUNHA, G.T. (Orgs), São Paulo: HucitecFurtado, J.P., Onocko, R.C., Participation, knowledge production, and evaluative research: Participation by different actors in a mental health study (2008) Cad Saude Publica, 24 (11), pp. 2671-2680Gadamer, H.G., (1997) Verdade E Método: Traços Fundamentais De Uma Hermenêutica Filosófica, , Petrópolis: Editora VozesHull, S.A., Aquino, P., Cotter, S., Explaining variation in antidepressant prescribing rates in east London: A cross sectional study (2005) Fam Pract, 22 (1), pp. 37-42International Narcotics Control Board (2010) Psychotropic Substances, , http://www.incb.org/pdf/technical-reports/psychotropics/2010/Psychotropic_Substances_Publication_2010.pdf, VIENNA. United Nations, Vienna: UN, Disponível em, Acesso em: 04 jul. 2012Kinoshita, R.T., Contratualidade e reabilitação psicossocial (1996) Reabilitação Psicossocial No Brasil, pp. 55-59. , PITTA, A. (Org.), São Paulo: HucitecMaragno, L., Prevalence of common mental disorders in a population covered by the Family Health Program (QUALIS) in Sao Paulo, Brazil (2006) Cad Saude Publica, 22 (8), pp. 1639-1648Marques, C.C., (2012) Entre Nós: Sobre Mudar De Lugar E Produzir Diferenças, , 2012. Dissertação (Mestrado) - Instituto de Psicologia, Universidade Federal do Rio Grande do Sul, Porto AlegreOnocko, C.R.T., Avaliação de estratégias inovadoras na organização da Atenção Primária à Saúde (2012) Rev. Saúde Pública, 46 (1). , http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-89102012000100006&lng=en&nrm=iso, São Paulo, Feb, Disponível em, Acesso em: 04 jul. 2012. Epub Dec 13,2011. http://dx.doi.org/10.1590/S0034-89102011005000083Onocko, C.R.T., Furtado, J.P., Narratives: Use in qualitative health-related research (2008) Rev Saude Publica, 42 (6), pp. 1090-1096Otanari, T.M.C., (2011) A Experiência De Participação Dos Residentes De Psiquiatria E Saúde Mental Nos Grupos De Gestão Autônoma Da Medicação? (GAM): Possíveis Efeitos Na Formação, , 2011. Dissertação (Mestrado). Faculdade de Ciências Médicas, Universidade Estadual de Campinas, CampinasRegier, D.A., The NIMH Epidemiologic Catchment Area Program: Historical context, major objectives, and study population characteristics (1984) Arch Gen Psychiatry, 41 (10), pp. 934-941Rodriguez, L., Perron, N., Ouellette, J.N., Psicotrópicos e saúde mental: Escutar ou regular o sofrimento? (2008) Pesquisa Avaliativa Em Saúde Mental: Desenho Participativo E Efeitos Da Narratividade, pp. 125-162. , ONOCKO CAMPOS, R.FURTADO, J.P.PASSOS, E.BENEVIDES, R. (Orgs), São Paulo: HucitecRodriguez, L., Corin, E., Poirel, M.L., Le point de vue des utilisateurs sur l'emploi de la médication en psychiatrie: Une voix ignorée (2001) Revue Québécoise De Psychologie, 22 (2), pp. 1-23Ricouer, P., (1997) Tempo E Narrativa, , Campinas: PapirusRicouer, P., (1990) Interpretação E Ideologias, , Rio de Janeiro: Francisco AlvesSantos, D.V.D., (2009) Uso De Psicotrópicos Da Atenção Primária Do Distrito Sudoeste De Campinas E Sua Relação Com Os Arranjos Da Clínica Ampliada: Uma Pedra No Sapato, , 2009. Dissertação (Mestrado) - Faculdade de Ciências Médicas, Universidade Estadual de Campinas, CampinasVedia, U.C., Study of use of psychiatric drugs in primary care (2005) Aten Primaria, 36 (5), pp. 239-245Winter, F., de Présentation, M., (2007), http://www.ladroit.org/texteforumgam.pdf, François Winter, coordonnateur de L'A-DROIT de Chaudière-Appalaches, lors de la 4ième table ronde du forum international sur les psychotropes des 3-4-5 avril, Disponível em, Acesso em: 04 jul 201

Myelopathy associated with cervical epidural spinal metastasis of follicular-compact thyroid carcinoma in two dogs

This case report describes the clinical, histopathological and immunohistochemical findings in two dogs with myelopathy associated with metastasis of follicular-compact thyroid carcinoma. Microscopically, both primary neoplasms were characterized by polygonal cells arranged in follicles (occasionally filled with eosinophilic colloid-like material) or in sheets. The neoplastic cells had a moderately eosinophilic cytoplasm and there was moderate anisokaryosis and anisocytosis. Additionally, the neoplastic cells were positive for thyroglobulin on immunohistochemistry, confirming the follicular origin of both tumors. This is a very uncommon presentation of this pathological condition

Sorption of fomesafen in Brazilian soils

The study of the dynamics of a herbicide in the soil focus on the interactions with environmental components to obtain agronomic efficiency, ensuring selectivity to the culture and risk reduction of environmental impact. This study evaluated the sorption process of fomesafen in the Brazilian soils Ultisol, Cambisol, and Organosol. Besides soil, washed sand was used as an inert material for determination of the sorption ratio of fomesafen in the soil. The bioassay method was applied, using Sorghum vulgare plants as bio-indicator of herbicide presence. Plant poisoning evaluation and harvest for dry matter determination were carried out 21 days after sorghum sowing. To calculate C50, the nonlinear log-logistic model was applied and sorption ratios of the herbicide were obtained in different soils. The decreasing sorption ratio of formesafen in the soils was: Organosol > Ultisol > Cambisol. It was concluded that the contents of organic matter and clay in the soils were the attributes that most influenced fomesafen sorption

Photosynthesis, stomatal conductance and leaf water potential in crabwood (Carapa guianensis)

Leaf water potential is one of the most important factors affecting stomatal functioning. The aim of this study was to assess the effect of variation in diurnal irradiance and vapour pressure deficit on photosynthesis (A), stomatal conductance (g s) and leaf water potential (psi) in Carapa guianensis (Aubl.). Data were collected from 07:00 to 17:00 h. Photosynthetic rates reached a maximum (2.5 µmol m-2 s-1) at 10:00 h, thereafter declined to a minimum of 1 µmol m-2 s-1 at 16:00 h. Stomatal conductance oscillated during the day, from 0.04 mol m-2 s-1 (at midday) to 0.02.mol.m-2.s-1 at the end of the afternoon. Leaf water potential was higher early in the morning (-0.3 MPa) and lower (-0.75 MPa) at mid-afternoon (14:30 -15:00 h). After reaching a minimum, psi increased up to -0.64 MPa at sunset. Photosynthetic rates increased linearly as a function of g s (P < 0.01). Also there was a positive relationship between psi and g s (P< 0.01). Photosynthetic rates declined during the day after reaching a peak early in the morning, which makes clear that environmental factors that influence psi greatly affect carbon assimilation of C. guianensis.O potencial hídrico da folha é um dos fatores mais importantes que afetam o funcionamento dos estômatos. O objetivo deste trabalho foi avaliar o efeito da variação diurna na irradiância e déficit de pressão de vapor (DPV) na fotossíntese (A), condutância estomática (g s) e potencial hídrico da folha (psi) em Carapa guianensis (Aubl.). Os dados foram coletados de 07:00 às 17:00 h. A taxa fotossintética atingiu um valor máximo (2,5 µmol m-2 s-1) às 10:00 h, depois declinou até atingir um mínimo de 1 µmolm-2 s-1 às 16:00 h. A condutância estomática oscilou durante o dia, de 0,04 molm-2s-1 (ao meio dia) para 0,02 molm-2s- 1 no final da tarde. O potencial hídrico da folha foi máximo nas primeiras horas do dia (-0,3 MPa) e mínimo (-0,75 MPa) no meio da tarde (14:30 a 15:00 h). Após ter alcançado um mínimo, o psi aumentou até -0,64 MPa no fim da tarde. A taxa fotossintética aumentou linearmente em função do g s (P < 0,01). Também houve uma relação positiva entre psi e g s (P < 0,01). A taxa fotossintética declinou durante o dia após ter alcançado um pico no início da manhã, demonstrando que os fatores ambientais que afetam o psi têm efeito significativo na assimilação do carbono de C. guianensis