18 resultados para amyloidosis (AMY)

em Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho"


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In the present work, 199 patients with leprosy who underwent autopsy between 1970 and 1986 were retrospectively studied to determine the prevalence, types, clinical characteristics, and etiologic factors of renal lesions (RLs) in leprosy. Patients were divided into two groups: 144 patients with RLs (RL+) and 55 patients without RLs (RL-), RLs observed in 72% of the autopsied patients were amyloidosis (AMY) in 61 patients (31%), glomerulonephritis (GN) in 29 patients (14%), nephrosclerosis (NPS) in 22 patients (11%), tubulointerstitial nephritis (TIN) in 18 patients (9%), granuloma in 2 patients (1%), and other lesions in 12 patients (6%), AMY occurred most frequently in patients with lepromatous leprosy (36%; nonlepromatous leprosy, 5%; P < 0.01), recurrent erythema nodosum leprosum (33%; P < 0.02), and trophic ulcers (27%; 0.05 < P < 0.10), Ninety-seven percent of AMY was found in patients with lepromatous leprosy, 88% showed recurrent trophic ulcers, and 76% presented with erythema nodosum leprosum, NPS was found in older patients with arterial hypertension, neoplastic diseases, infectious diseases, and vasculitis associated with GN, Most patients with AMY presented with proteinuria (95%) and renal failure (88%), the most frequent causes of death were renal failure in patients with AMY (57%), infectious diseases in patients with GN (41%) and TIN (45%), and cardiovascular diseases in patients with NPS (41%), No difference in survival rates was observed among RL- patients and those with AMY, GN, NPS, or TIN. (C) 2001 by the National Kidney Foundation, Inc.

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25 cases of primary cutaneous amyloidosis are studied. 16 patients had macular amyloidosis (MPA) and 9 lichen amyloidosus (LPA). γ-Globulins were increased in 50% of the patients. IgG and IgA were increased in the serum of 5 and 3 patients with MPA and 4 and 2 patients with LPA, respectively. Volume of amyloid deposits was similar in both forms. By direct immunofluorescence we demonstrated IgG in the amyloid deposits of 21 of the 25 cases and C3 in 13; IgM was present in 9 cases of MPA and in 3 cases of LPA. MPA was more frequent than LPA; histologically, it was impossible to distinguish MPA from LPA; correlation between serum levels of γ-globulins and their presence in amyloid deposits was weak; MPA and LPA seem to be distinct clinical manifestations of the same disease and itching does not cause transformation of MPA in LPA.

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Aboveground biomass predictive equations were developed for a highly productive 47-year-old mixed Douglas-fir and western hemlock stand in southwest Washington State to characterize the preharvest stand attributes for the Fall River Long-Term Site Productivity Study. The equations were developed using detailed biomass data taken from 31 Douglas-fir and 11 western hemlock trees within the original stand. The stand had an average of 615 live trees per hectare, with an average dbh of 35.6 cm (39.1 cm for Douglas-fir and 33.3 cm for western hemlock) and an average total tree height of 31.6 m (32.8 m for Douglas-fir and 30.2 m for western hemlock). Equations developed were of the form In Y = b(1) + b(2) In dbh, where Y = biomass in kg, dbh = diameter in cm at 1.3 m height, b(1) = intercept, and b(2) = slope of equation. Each tree part was estimated separately and also combined into total aboveground biomass. The total aboveground biomass estimation equations were In Y = -0.9950 + 2.0765 In dbh for Douglas-fir, and In Y = -1.6612 + 2.2321 In dbh for western hemlock. The estimate of the aboveground live-free biomass was of 395 Mg ha(-1) (235 Mg ha(-1) for Douglas-fir and 160 Mg ha(-1) for western hemlock), with 9.5, 29.3, 12.9, 308, and 32.7 Mg ha(-1) in the foliage, live branches, dead branches, stem wood, and stem hark, respectively. When compared with biomass estimates from six other studies, ranging in age from 22 to 110 years and from 96.3 to 636 Mg ha(-1), the biomass of the Fall River site was relatively high for its age, indicating very high productivity.

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To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P = .001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified. © 2007 by The American Society of Human Genetics. All rights reserved.

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DNA methylation plays an important role in the epigenetic control of developmental and behavioral plasticity, with connections to the generation of striking phenotypic differences between castes (larger, reproductive queens and smaller, non-reproductive workers) in honeybees and ants. Here, we provide the first comparative investigation of caste- and life stage-associated DNA methylation in several species of bees and vespid wasps displaying different levels of social organization. Our results reveal moderate levels of DNA methylation in most bees and wasps, with no clear relationship to the level of sociality. Strikingly, primitively social Polistes dominula paper wasps show unusually high overall DNA methylation and caste-related differences in site-specific methylation. These results suggest DNA methylation may play a role in the regulation of behavioral and physiological differences in primitively social species with more flexible caste differences. © 2013 Springer-Verlag Berlin Heidelberg.

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Pós-graduação em Ciências Biológicas (Microbiologia Aplicada) - IBRC

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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O acompanhamento do desenvolvimento de bebês implica na consideração de fatores de risco para os mesmos e na utilização de instrumentos que possibilitem a identificação de defasagens, comportamentais, visando à elaboração de intervenções pontuais junto a pais e outros cuidadores. O presente estudo prendendeu descrever variáveis distais e proximais do desenvolvimento de uma amostra de bebês, a partir de suas características peculiares, bem como das dos seus familiares e avaliar o repertório comportamental dos bebês, correlacionando-o com variáveis de risco como prematuridade, baixo peso ao nascer e filhos de mães adolescentes, comparando-o com bebês sem condição de risco identificada. Pretendeu, também, identificar comportamentos típicos nas áres do desenvolvimento avaliadas pelo inventário portage operacionalizado, mês a mês, durante o primeiro ano de vida, utilizando os critérios de estabilização, normalização e aparecimento destes comportamentos entre os meninos e meninas. Participaram do estudo 217 bebês que foram avaliados no decorrer do primeiro ano de vida, sendo que 33% eram prematuros, 28% filhos de mães adolescentes, 11% com baixo peso nascidos a termo, 3% sindrômicos ou filhos de mães portadoras de HIV+ e 25% do Grupo Controle, sem condições de risco identificado no nascimento. Os dados foram coletados a partir da entrevista inicial e da avaliação mensal do inventário. Os dados foram coletados a partir da entrevista inicial e da aplicação mensal do inventário portage operacionalizado (IPO), em um Centro de Psicologia Aplicada de uma universidade pública. Os desempenhos dos bebês no IPO e as condições de risco identificadas foram submetidas ao tratamento por meio do Statistic Package Social for Science (SPSS, versão 12.0). para a identificação de comportamentos típicos utilizaram-se os critérios de Estabilização... (Resumo completo, clicar acesso eletrônico abaixo)