37 resultados para FDH


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Dissertação apresentada para a obtenção do Grau de Doutor em Bioquímica, especialidade de Bioquímica-Física pela Universidade Nova de Lisboa, Faculdade de Ciências e Tecnologia

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J Biol Inorg Chem (2011) 16:1255–1268 DOI 10.1007/s00775-011-0813-8

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Focal dermal hypoplasia (FDH; Goltz-Gorlin syndrome; OMIM 305600) is a disorder that features involvement of the skin, skeletal system, and eyes. It is caused by loss-of-function mutations in the PORCN gene. We report a young girl with FDH, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in PORCN. This association has not been previously reported, and based on these observations the phenotypic spectrum of FDH might be broader than previously appreciated. It would be prudent to alter the suggested surveillance for this rare disorder. © 2013 Wiley Periodicals, Inc.

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Mutations in LACERATA (LCR), FIDDLEHEAD (FDH), and BODYGUARD (BDG) cause a complex developmental syndrome that is consistent with an important role for these Arabidopsis genes in cuticle biogenesis. The genesis of their pleiotropic phenotypes is, however, poorly understood. We provide evidence that neither distorted depositions of cutin, nor deficiencies in the chemical composition of cuticular lipids, account for these features, instead suggesting that the mutants alleviate the functional disorder of the cuticle by reinforcing their defenses. To better understand how plants adapt to these mutations, we performed a genome-wide gene expression analysis. We found that apparent compensatory transcriptional responses in these mutants involve the induction of wax, cutin, cell wall, and defense genes. To gain greater insight into the mechanism by which cuticular mutations trigger this response in the plants, we performed an overlap meta-analysis, which is termed MASTA (MicroArray overlap Search Tool and Analysis), of differentially expressed genes. This suggested that different cell integrity pathways are recruited in cesA cellulose synthase and cuticular mutants. Using MASTA for an in silico suppressor/enhancer screen, we identified SERRATE (SE), which encodes a protein of RNA-processing multi-protein complexes, as a likely enhancer. In confirmation of this notion, the se lcr and se bdg double mutants eradicate severe leaf deformations as well as the organ fusions that are typical of lcr and bdg and other cuticular mutants. Also, lcr does not confer resistance to Botrytis cinerea in a se mutant background. We propose that there is a role for SERRATE-mediated RNA signaling in the cuticle integrity pathway.

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The objective of this study is to analyse the technical or productive efficiency ofthe refuse collection services in 75 municipalities located in the Spanish regionof Catalonia. The analysis has been carried out using various techniques. Firstly we have calculated a deterministic parametric frontier, then a stochastic parametric frontier, and finally, various non-parametric approaches (DEA and FDH). Concerning the results, these naturally differ according to the technique used to approach the frontier. Nevertheless, they have an appearance of solidity, at least with regard to the ordinal concordance among the indices of efficiency obtained by the different approaches, as is demonstrated by the statistical tests used. Finally, we have attempted to search for any relation existing between efficiency and the method (public or private) of managing the services. No significant relation was found between the type of management and efficiencyindices

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The objective of this study is to analyse the technical or productive efficiency ofthe refuse collection services in 75 municipalities located in the Spanish regionof Catalonia. The analysis has been carried out using various techniques. Firstly we have calculated a deterministic parametric frontier, then a stochastic parametric frontier, and finally, various non-parametric approaches (DEA and FDH). Concerning the results, these naturally differ according to the technique used to approach the frontier. Nevertheless, they have an appearance of solidity, at least with regard to the ordinal concordance among the indices of efficiency obtained by the different approaches, as is demonstrated by the statistical tests used. Finally, we have attempted to search for any relation existing between efficiency and the method (public or private) of managing the services. No significant relation was found between the type of management and efficiencyindices

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Autosomal dominant familial dysalbuminemic hyperthyroxinemia (FDH)is characterized by modified human serum albumin (HSA) inducing asubstantially higher affinity for thyroxine (T4). Histidin or prolinsubstitution on residue R218 produces localized conformationalchanges of HSA creating additional room for T4 binding, leadingto 14-20 fold normal total T4 (TT4) levels. Affected individuals areconsidered euthyroid. Our patient is an 18 months-old swiss girl bornto a mother known for the rare R218P mutation in the HSA gene.She presented with severe failure to thrive (height -2.92 SD, weight-3.6 SD), habitual hip dislocation without anatomical anomaly, latefontanelle closing and protruding ears. Psychomotor development isslightly retarded. Thyroid function testing confirmed extremely high TT4(1446.0 nmol/l) levels, which are similar to her brother's values (1534.4nmol/l and 1757.6 nmol/l respectively). Free T4 seems slightly elevated(26 pmol/l), probably due to methodological reasons. TSH (0.92 mU/l),free T3 (4.4 pmol/l) and thyroxin binding globulin (32 mg/l) are withinthe normal range. Her two half-brothers, affected by the samemutation, are now 18.7 (P1) and 16.6 (P2) years old and wereoriginally described by S. Pannain et al. in 2000. Both werecharacterized by growth retardation (-2.1 and -2.2 SD) before the ageof 4 years. P1 has reached a normal adult height (-0.4 SD) and P2has caught up to normal growth (-0.68 SD) with moderate bonematuration delay. Pubertal development and anterior pituitary functionare adequate. Primary growth and developmental retardation in thefirst years of life with adequate catch-up seem to be a distinctcharacteristic in FDH with R218P mutation. Hip dislocation is typicallyseen in other situations associated to thyroid disorders, like Downsyndrome. These findings might be explained by altered early thyroidhormone utilization in children with FDH.

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We study the role of natural resource windfalls in explaining the efficiency of public expenditures. Using a rich dataset of expenditures and public good provision for 1,836 municipalities in Peru for period 2001-2010, we estimate a non-monotonic relationship between the efficiency of public good provision and the level of natural resource transfers. Local governments that were extremely favored by the boom of mineral prices were more efficient in using fiscal windfalls whereas those benefited with modest transfers were more inefficient. These results can be explained by the increase in political competition associated with the boom. However, the fact that increases in efficiency were related to reductions in public good provision casts doubts about the beneficial effects of political competition in promoting efficiency.

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The 11-yr solar cycle temperature response to spectrally resolved solar irradiance changes and associated ozone changes is calculated using a fixed dynamical heating (FDH) model. Imposed ozone changes are from satellite observations, in contrast to some earlier studies. A maximum of 1.6 K is found in the equatorial upper stratosphere and a secondary maximum of 0.4 K in the equatorial lower stratosphere, forming a double peak in the vertical. The upper maximum is primarily due to the irradiance changes while the lower maximum is due to the imposed ozone changes. The results compare well with analyses using the 40-yr ECMWF Re-Analysis (ERA-40) and NCEP/NCAR datasets. The equatorial lower stratospheric structure is reproduced even though, by definition, the FDH calculations exclude dynamically driven temperature changes, suggesting an important role for an indirect dynamical effect through ozone redistribution. The results also suggest that differences between the Stratospheric Sounding Unit (SSU)/Microwave Sounding Unit (MSU) and ERA-40 estimates of the solar cycle signal can be explained by the poor vertical resolution of the SSU/MSU measurements. The adjusted radiative forcing of climate change is also investigated. The forcing due to irradiance changes was 0.14 W m−2, which is only 78% of the value obtained by employing the standard method of simple scaling of the total solar irradiance (TSI) change. The difference arises because much of the change in TSI is at wavelengths where ozone absorbs strongly. The forcing due to the ozone change was only 0.004 W m−2 owing to strong compensation between negative shortwave and positive longwave forcings.

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Este artigo avalia os efeitos das variáveis de escala na oferta de serviços públicos de saúde dos municípios paulistas, com o objetivo de investigar os possíveis efeitos do processo de descentralização dos serviços de saúde a partir da consolidação do Sistema Único de Saúde (SUS). Foram construídos indicadores de eficiência dos gastos municipais em saúde pela técnica de Free Disposable Hull, tendo sido estimados os efeitos das variáveis de escala não só sobre a eficiência, mas também diretamente sobre os indicadores de desempenho e sobre os gastos per capita. Conclui-se que os municípios menores, além de terem maior gasto per capita em saúde, oferecem piores condições de acesso ao sistema. Além disso, pequenos municípios não oferecem melhores serviços de prevenção de doenças infecciosas, apesar de terem, a princípio, melhores condições de conhecer as necessidades dos cidadãos. Em consonância com o trabalho de Sampaio de Souza et alii (2005), conclui-se que a excessiva descentralização na gestão pode levar à perda de eficiência, aumentando gastos sem necessariamente melhorar a qualidade.

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SILVA, Jorge Luiz Mariano da. Eficiência técnica dos produtores familiares no projeto de irrigação do Baixo Açu/RN.In: CONGRESSO SA SOCIEDADE BRASILEIRA DE ECONOMIA E SOCIOLOGIA RURAL,42., 2004, Cuiabá - MT. Dinâmcias Setorias e Desevolvimento Regional, 2004.

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SILVA, J. L. M. da; SAMPAIO, L. M. . Eficiência, Gestão e Meio Ambiente na Carcinicultura do Rio Grande do Norte. In: Congresso da Sociendade Brasileira de Economia, Administração e Sociologia Rural - SOBER, 40., 2007, Londrina. Conhecimentos para a Agricultura do Futuro, 2007.