433 research outputs found
CHARACTERIZATION OF DISEASE GENES IN NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Neurodegeneration with brain iron accumulation (NBIA) comprises a heterogeneous group of genetically defined disorders clinically characterized by progressive extrapyramidal deterioration and by iron accumulation in the basal ganglia. The clinical spectrum of NBIA is extremely wide and includes early-onset neurodegeneration and adult-onset parkinsonisms-dystonia. Recessive NBIA syndromes may be due to mutations in the PANK2, PLA2G6, FA2H, and C19orf12 genes, but still in a large proportion of patients, no genetic alteration can be found. Using Whole Exome Sequencing (WES) strategy we identified, in a NBIA patient, a homozygous missense mutation in the gene codifying for coenzyme A synthase (COASY). By performing traditional Sanger sequencing in a cohort of NBIA subjects, we found another mutant patient. COASY is a bifunctional mitochondrial enzyme involved in the two last steps of coenzyme A (CoA) biosynthesis, a molecule of primary importance for several metabolic pathways. The missense mutation found affects a highly conserved aminoacid residue in the catalytic site of COASY. Western-blot analysis showed that the protein is absent in patients-derived skin fibroblasts. We synthesized human wild-type and mutated catalytic domain and full-lenght COASY to analyze, by HPLC, in-vitro protein activity. Additional experiments were performed on yeast cells and on patient-derived skin fibroblasts. Together with mutations in PANK2, coding for the first enzyme involved in CoA biosynthesis, mutations in COASY impinge on the same biosynthetic pathway causing NBIA. For this reason further analysis were performed also on PKAN patients-derived skin fibroblasts and on Pank2 knockout mouse model, to better understand the link between CoA synthesis defect and neurodegeneration
Acima dos confrontos sobre os transgênicos: uma experiência piloto de consulta pública.
RESUMO: A tecnologia do DNA recombinante abriu, juntamente com um horizonte ilimitado de possibilidades de inovações, polêmicas que não podem ser ignoradas ou resolvidas por meio de uma difusão linear de informações. Ações multidisciplinares e multi-institucionais têm sido implementadas, com sucesso, em diversos países, para estabelecer novas formas de comunicação entre peritos e leigos. Isso permite identificar possíveis restrições e benefícios nas trajetórias tecnológicas, e assim entender e negociar eventuais conflitos. No Brasil, esse tipo de abordagem não tem recebido atenção significativa. A metodologia Problem Formulation and Options Assessment (PFOA), articulada no contexto do projeto internacional Genetically Modified Organisms - Environmental Risk Assessment (GMO-ERA), e sintonizada com as novas tendências de envolvimento dos diversos setores de interesse (stakeholders) ligados a uma tecnologia, propõe integrar na análise de risco as perspectivas ambiental, social, econômica e ética. A equipe de implementação de uma experiência piloto do PFOA foi formada pelo grupo do GMOERA - ligado ao Projeto Rede de Biossegurança (BioSeg), da Empresa Brasileira de Pesquisa Agropecuária (Embrapa), pelo Instituto de Pesquisa em Riscos e Sustentabilidade, da Universidade Federal de Santa Catarina (Iris-UFSC), e pelo Centro de Gestão de Estudos Estratégicos do Ministério da Ciência e Tecnologia (CGEE/MCT). O caso utilizado como modelo foi o feijão geneticamente modificado resistente ao mosaico-dourado, que vem sendo desenvolvido pela Embrapa. O piloto, financiado pelo CGEE/MCT, contou com a participação de diversos stakeholders. Dentre as conclusões, recomenda-se o uso de sistemas de informação não unidirecionados, mais transparentes e abertos, baseados em uma ciência rigorosa, para subsidiar as instâncias científicas e políticas nas tomadas de decisão. abstract: Recombinant DNA technology, together with an unlimited horizon of possibilities of innovation, triggered a discussion, among stakeholders, that cannot be ignored or solved through a linear difusion of information. Multidisciplinary and multi-institutional actions are being successfully adopted in several countries to establish new communication strategies between specialists and stakeholders. These strategies allow the identification of possible constraints and benefits of a technology during its development and, consequently, understanding and negotiation of conflicts. In Brazil this approach is not being used yet. The Problem Formulation and Options Assessment (PFOA) methodology was proposed by the Genetically Modified Organisms - Environmental Risk Assessment (GMO-ERA) project, aligned with the new trend of involving stakeholders in the risk assessment of a new technology. PFOA integrates the environmental, social, economic and ethical perspectives into the risk assessment of a technology. PFOA's pilot experience was conducted by a group formed by the GMO-ERA team associated with the Biosafety Network (BioSeg) project of the Brazilian Agricultural Research Corporation (Embrapa), by the Institute of Research in Risk and Sustainability from the Federal University of Santa Catarina (Iris-UFSC) and by the Center for Strategic Management and Studies in Science, Technology and Innovation of the Ministry of Science and Technology (CGEE/ MCT). The case study was a genetically modified bean resistant to the golden mosaic disease, which is being developed by Embrapa. This pilot was funded by CGEE/MCT and gathered representatives of several stakeholders. It could be concluded that the use of non-directed, transparent, open and science-based communication approaches is of great value for scientific and political decision making instances
Mechanisms of NADPH oxidase activation in human neutrophils: p67phox is required for the translocation of rac 1 but not of rac 2 from cytosol to the membranes
[Assessment of pulmonary function in a follow-up of premature infants: our experience].
Respiratory diseases are a major cause of morbidity in neonates, especially preterm infants; a long term complication of prematurity such as bronchopulmonary dysplasia (BPD) is particularly relevant today. The exact role of the Pulmonary Function Test (PFT) in this area is not yet well defined; the PFT in newborns and infants - in contrast to what happens in uncooperative children and adults - are routinely used only in a few centers. The assessment of pulmonary function in newborns and infants, however, is nowadays possible with the same reliability that in cooperative patients with the possibility to extend the assessment of polmonary function from bench to bed. The assessment of pulmonary function must be carried out with non invasive and safe methods, at the bedside, with the possibility of continuous monitoring and providing adequate calculation and management of data. The ability to assess lung function helps to define the mechanisms of respiratory failure, improving the treatment and its effects and is therefore a useful tool in the follow-up of newborn and infant with pulmonary disease
Stepwise quantum decay of self-localized solitons
The two-phonon decay of self-localized soliton in a one-dimensional monatomic
anharmonic lattice caused by cubic anharmonicity is considered. It is shown
that the decay takes place with emission of phonon bursts. The average rate of
emission of phonons is of the order of vibrational quantum per vibrational
period. Characteristic time of the relaxation is determined by the quantum
anharmonicity parameter; this time may vary from a few (quantum lattices, large
anharmonicity) to thousands (ordinary lattices, small anharmonicity) of
vibrational periods.Comment: 6 pages, 3 figure
Energy Relaxation in Nonlinear One-Dimensional Lattices
We study energy relaxation in thermalized one-dimensional nonlinear arrays of
the Fermi-Pasta-Ulam type. The ends of the thermalized systems are placed in
contact with a zero-temperature reservoir via damping forces. Harmonic arrays
relax by sequential phonon decay into the cold reservoir, the lower frequency
modes relaxing first. The relaxation pathway for purely anharmonic arrays
involves the degradation of higher-energy nonlinear modes into lower energy
ones. The lowest energy modes are absorbed by the cold reservoir, but a small
amount of energy is persistently left behind in the array in the form of almost
stationary low-frequency localized modes. Arrays with interactions that contain
both a harmonic and an anharmonic contribution exhibit behavior that involves
the interplay of phonon modes and breather modes. At long times relaxation is
extremely slow due to the spontaneous appearance and persistence of energetic
high-frequency stationary breathers. Breather behavior is further ascertained
by explicitly injecting a localized excitation into the thermalized array and
observing the relaxation behavior
Resistência extrema a duas estirpes do Potato virus Y (PVY) de batata transgênica, cv. Achat, expressando o gene da capa protéica do PVYO
The coat protein (CP) gene of the potato virus Y strain “o” (PVYO) was introduced into potato, cultivar Achat, via Agrobacterium tumefaciens-mediated transformation. Sixty three putative transgenic lines were challenged against the Brazilian strains PVY-OBR and PVY-NBR. An extremely resistant phenotype, against the two strains, was observed in one line, denominated 1P. No symptoms or positive ELISA results were observed in 16 challenged plants from this line. Another clone, named as 63P, showed a lower level of resistance. Southern blot analysis showed five copies of the CP gene in the extremely resistant line and at least three copies in the other resistant line. The stability of the integrated transgenes in the extreme resistant line was examined during several in vitro multiplications over a period of three years, with no modification in the Southern pattern was observed. The stability of the transgenes, the absence of primary infections and the relatively broad spectrum of resistance suggest that the extremely resistant line obtained in this work can be useful for agricultural purposes.O gene da capa protéica (CP) do Potato virus Y estirpe “o”, foi introduzido em batata cultivar Achat, via Agrobacterium tumefaciens. Sessenta e três linhas possivelmente transgênicas foram desafiadas com as estirpes brasileiras PVY-OBR e PVY-NBR. Uma linha apresentou extrema resistência às duas estirpes inoculadas, e foi denominado clone 1P. Não foram observados sintomas sistêmicos de infecção e as plantas foram negativas em Elisa. Outra linha, denominada clone 63P, mostrou algum nível de resistência. Análises por Southern blot indicaram a presença de pelo menos cinco cópias do gen CP no clone 1P e pelo menos três cópias no clone 63P. A estabilidade do gene introduzido no clone 1P foi avaliada durante três anos, após várias multiplicações in vitro. Não foram observadas mudanças no padrão do Southern blot. A estabilidade do transgene, na ausência de infecções primárias e relativo largo espectro de resistência sugerem que o clone 1P pode ser utilizado para fins comerciais.Fil: Romano, Eduardo. Embrapa Recursos Genéticos; BrasilFil: Ferreira, Adriana T.. Embrapa Hortaliças; BrasilFil: Dusi, André N.. Embrapa Hortaliças; BrasilFil: Proite, Karina. Embrapa Recursos Genéticos; BrasilFil: Buso, Jose A.. Embrapa Hortaliças; BrasilFil: Avila, Antonio C.. Embrapa Hortaliças; BrasilFil: Nishijima, Marta L.. Embrapa Hortaliças; BrasilFil: Nascimento, Adriana S.. Embrapa Hortaliças; BrasilFil: Bravo Almonacid, Fernando Felix. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; ArgentinaFil: Mentaberry, Alejandro Nestor. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; ArgentinaFil: Monte, Damares. Embrapa Recursos Genéticos; BrasilFil: Campos, Magnolia A.. Embrapa Recursos Genéticos; BrasilFil: Melo, Paulo Eduardo. Embrapa Hortaliças; BrasilFil: Cattony, Monica K.. No especifica;Fil: Torres, Antonio C.. Embrapa Hortaliças; Brasi
ESAT-6 and HspX improve the effectiveness of BCG to induce human dendritic cells-dependent Th1 and NK cells activation
The limited efficacy of the BCG vaccine against tuberculosis is partly due to the missing expression of immunogenic proteins. We analyzed whether the addition to BCG of ESAT-6 and HspX, two Mycobacterium tuberculosis (Mtb) antigens, could enhance its capacity to activate human dendritic cells (DCs). BCG showed a weak ability to induce DC maturation, cytokine release, and CD4+ lymphocytes and NK cells activation. The addition of ESAT-6 or HspX alone to BCG-stimulated DC did not improve these processes, whereas their simultaneous addition enhanced BCG-dependent DC maturation and cytokine release, as well as the ability of BCG-treated DCs to stimulate IFN-\u3b3 release and CD69 expression by CD4+ lymphocytes and NK cells. Addition of TLR2-blocking antibody decreased IL-12 release by BCG-stimulated DCs incubated with ESAT-6 and HspX, as well as IFN-\u3b3 secretion by CD4+ lymphocytes co-cultured with these cells. Moreover, HspX and ESAT-6 improved the capacity of BCG-treated DCs to induce the expression of memory phenotype marker CD45RO in na\uefve CD4+ T cells. Our results indicate that ESAT-6 and HspX cooperation enables BCG-treated human DCs to induce T lymphocyte and NK cell-mediated immune responses through TLR2-dependent IL-12 secretion. Therefore ESAT-6 and HspX represent good candidates for improving the effectiveness of BCG vaccination
Susceptibility of common and tepary beans to Agrobacterium spp. strains and improvement of Agrobacterium-mediated transformation using microprojectile bombardment.
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Le terapie alternative e le infezioni respiratorie
Attualmente, la pi\uf9 recente classifi cazione delle medicine e delle pratiche
non convenzionali \ue8 molto ampia e include molti tipi di medicine
e terapie estremamente diverse tra loro, dall\u2019agopuntura alla medicina
ayurvedica/antroposofi ca, dalla fi toterapia alla medicina tradizionale cinese,
dall\u2019omeopatia alla chiropratica.
In Italia il ricorso a terapie non convenzionali in et\ue0 pediatrica (<14
anni), secondo un\u2019indagine dell\u2019ISTAT del 1999, non risulta elevato, attestandosi
in media intorno al 9%: da questa indagine \ue8 emerso che l\u2019omeopatia e la
fi toterapia sono le terapie non convenzionali pi\uf9 seguite.
In realt\ue0, nel nostro Paese esistono, comunque, grandi differenze loco regionali
nella pratica della medicina non convenzionale. Nella realt\ue0 del nostro ambulatorio,
tra il 2004 e il 2006, circa i 2/3 dei bambini giunti in osservazione per
infezioni delle alte vie respiratorie hanno ricevuto una o pi\uf9 terapie alternative,
sia di tipo medico (omeopatia, fi toterapia) che non medico (osteopatia, agopuntura)
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