955 resultados para inherited nephropathy


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The unfavorable evolution of a young ovine during hyperimmunization process with Crotalus durissus terrificus venom was investigated in order to differentiate its origin between ophidic envenomation and copper toxicosis. Clinical, laboratory, necroscopic and histological exams as well as evaluation and measurement of heavy metals (copper) in the kidneys and in the liver were carried out. Blood counts revealed anemia and serological tests showed high levels of blood urea nitrogen, creatinine, aspartate aminotransferase, creatine phosphokinase, total bilirubin and indirect bilirubin; which indicates liver, kidney and skeletal muscle damages. At necropsy, the animal presented hepatopathy and nephropathy. Histological examination revealed renal and hepatic features that may imply copper intoxication. Copper levels were 237.8 mu g/g in the liver and 51.2 mu g/g in the kidneys. Although the amount of metal found in both organs was below the level that can cause death, according to the literature, anatomopathological signs were suggestive of copper intoxication. Therefore, the hypothesis of metal toxicosis during the hyperimmunization process became more consistent than the crotalic envenomation one.

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A morpho-structural analysis was performed in the uplifted siliciclastic deposits of the Serra do Martins Formation along the Portalegre, Martins and Santana plateaux, in the southeastern and central regions of Rio Grande do Norte State. Due to the lack of biostratigraphic records, this formation has a disputable age.The adopted approach was based on the analysis of the drainage patterns and in the recognition of topographic surfaces and regional structures, subjected to neotectonic deformation and rejuvenation the present stress field. These events are recorded in the lineament arrays and as anomalous features of the landscape, such as the uplifted plateaux.The morpho-sculptural evolution of the studied blocks is expressed as erosive and accumulative processes. The former ones include erosional scarpments, cuestas and amphitheaters as the most characteristic features, while debris slopes represent acumulative examples. Such elements attest to the recent disequilibrium of the plateaux, and the absence of well developed alluvium terraces suggest an accelerated uplift process. The directions of the linear features observed in remote sensing products evidence the control of the basement structural trends, inherited from the pre-Cenozoic evolution. The NNE-SSW direction controls the main erosional features of the plateaux, while the N-S direction is a major drainage control, being also recognized in the Potiguar Basin. An E-W trend occurs as a less developed direction, reflecting either a system of mesozoic basic dykes or precambrian brittle structures. As regards to the drainage arrays, an arborescent, varying to a roughly N-S rectangular pattern, was identified in the Portalegre-Martins block. The Santana plateau displays rectilinear (northern border) and dendritic arborescent (southern border) patterns. In the sedimentary cover, the drainage pattern varies from rectangular to angular, reflecting inheritance from the crystaline basement. The most significative directions, N, NE and NW, mark the erosional fronts of the plateaux. Drainage anomalies, characterized by elbows or paralell confluencies, reinforce the arguments mentioned above. The data sets evidence the relationships between endogenous (lithology, structures) and exogenous features as the main controls of terrain dissecation, associated to vertical (epirogenesis) movements and horizontal tectonics. A final discussion addresses the relationships of the Serra do Martins Formation with the sedimentary record of Potiguar Basin, trying to establish chronostratigraphic links with the main evolutionary steps of this part of the Borborema Province, and possible mechanisms involved in the uplift of the plateaux and other stratigraphic units in the region

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Objectives: We performed a prospective clinical study of the cochleovestibular symptoms and the risk cofactors and characteristics of hearing loss in patients with type 1 diabetes.Methods: Group I consisted of 40 patients with type I diabetes, and group 2 consisted of 20 control subjects without diabetes. All participants answered a questionnaire, and their medical records were reviewed. They also were submitted to otorhinolaryngological examinations and to auditory tests (pure tone audiometry and acoustic immitance and auditory brain stem response [ABR] tests).Results: Dyslipidemia, hypertension, retinopathy, and diabetic neuropathy were not frequent in the patients of group 1, but incipient nephropathy was present in 47.5% of them. The most frequent cochleovestibular symptoms were tinnitus and hearing loss. Sensorineural hearing loss was found in 4 patients of group I and was predominantly bilateral, symmetric, and affecting the high frequencies, coexisting with normal vocal discrimination. These patients had a longer time from diabetes diagnosis and had poor glycemia control. A delay of ABR interpeak latency I-III was observed in 11.25% of the group I ears. All patients of group 2 presented normal audiograms and ABR tests.Conclusions: In group 1, the most frequent cochleovestibular symptoms were tinnitus and hearing loss. The sensorineural hearing loss was mild, symmetric, and predominantly high-frequency. A delay of ABR interpeak latencies was detected in the patients of group I who had normal audiometric thresholds.

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The central nervous system (CNS) is susceptible to a variety of insults, including infectious, toxicologic, and genetic disorders. Inherited disorders can be evident at birth or might not be apparent until later in the 1st year of life or beyond. Most neurological disorders are recognized in the dog and cat with fewer examples in farm animals.(1) This paper contains the 1st report of the clinical and pathological features of a degenerative myelopathy in Holstein X Gir crossbred calves in Brazil.

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

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Thalassemias are a heterogeneous group of inherited disorders characterized by a microcytic hypochromic anemia and an imbalance in the synthesis of the globin-chains. Hb C is the second most frequently variant of hemoglobin found in Brazil. The laboratory diagnosis of hemoglobinopathies, including thalassemias, is growing in importance, particularly because of an increasing requirement for neonatal diagnosis of abnormal hemoglobins. Screening tests were carried out using alkaline and acid electrophoresis, globin-chain analysis by cellulose acetate in alkaline pH, isoelectric focusing and HPLC. The molecular characterization was made by PCR-ASO for Hb C and beta thalassemia mutants. Large-scale screening and discriminative methodologies must provide information about the hemoglobin polymorphisms in Brazilian population. HPLC is a powerful tool in these cases. Molecular characterization is important to genetic counseling and clinical management, in particular for the Brazilian population that have an intense racial admixture, with great variability of hemoglobins. In this paper an association between Hb C and beta thalassemia (IVS-II-654) in a black family from Brazil was described.

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A talassemia β é a forma considerada clinicamente a mais importante dentre as talassemias, em virtude do grau de morbidade e mortalidade, em consequência da anemia hemolítica. O presente relato de caso refere-se a uma gestante portadora da talassemia β intermediária, identificada em programa de rastreamento de anemia hemolítica e tem como objetivo demonstrar a importância do diagnóstico precoce e adequado de uma anemia hereditária, durante o pré-natal. Ressalta também a necessidade de orientação aos portadores em relação aos seus descendentes e a eficiência do acompanhamento por uma equipe multidisciplinar especializada.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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The most highly prevalent inherited disease in Brazil and in the world, sickle cell anemia, is considered a public health problem. Characterized by homozygosis for the hemoglobin S gene, the individual has a range of signs and symptoms that require careful treatment. The sickle cell trait is characterized by heterozygosis for the hemoglobin S gene, however the carrier does not express the disease. In the current study we aimed at verifying the presence of the sickle cell trait in 1000 blood donors of the Hematology and Hemotherapy Center of the State of Piauí (Hemopi) in the period from October 2007 to April 2008. After analysis by alkaline and acid electrophoresis, positive cases were confirmed by molecular biology. We obtained rates of 3.4% for hemoglobin AS and 5% for hemoglobin AC, with a total frequency of 3.9% in the total of 1,000 blood donors.

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Alterações genéticas em que a mutação de aminoácidos nas globinas afeta a estrutura da molécula tornando-a instável são classificadas como hemoglobinas instáveis. Devido à grande diversidade dos pontos de mutações por substituições e deleções de aminoácidos, as formas de instabilização se apresentam muito variadas. A hemoglobina Köln é a variante instável descrita com maior freqüência na literatura e a terceira descoberta no Brasil, as outras são Hb Niterói e Hb Hasharon. Anemia moderada, icterícia e presença de urina escura caracterizam as manifestações clínicas da Hb Köln. em programa de triagem neonatal identificamos uma criança com suspeita de heterozigose para hemoglobina Köln, confirmada por procedimentos eletroforéticos e HPLC. Avaliações por diferentes metodologias laboratoriais e estudo familiar auxiliam no diagnóstico precoce, possibilitando minimizar os sintomas decorrentes da hemoglobina anormal e a realização do aconselhamento genético e educacional destas alterações hereditárias.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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The Pantanal is a tectonic depression located at the left margin of the Upper Paraguay River. The Paraguay is the trunk river of an alluvial depositional tract composed by several large marginal alluvial fans, the Taquari fan being the largest one. The present landscape is a complex tropical wetland characterized by month-long floods every year, with geomorphic features derived from the present conditions and others inherited from successive Pleistocene and Holocene climates. Some areas containing ponds are landscape relicts generated by eolian deflation during the Last Glacial Maximum. Many ponds, closed depressions isolated from the superficial waters by vegetated crescent ridges of fine sands, were interpreted as salt pans bordered by lunette sand dunes. Initiation of the modern wetland has occurred during the Pleistocene/Holocene transition, with the change to a more humid climate and the individualization of lacustrine systems. Active tectonics has been playing an important role in the development of the Pantanal landscape. Nowadays, the Paraguay River meanders in a large flood plain with extensive swamp surfaces, being structurally constrained by faults in the west border of the basin. Sedimentation within the Pantanal wetland is also affected by tectonic activity, especially along faults associated with the Transbrasiliano Lineament. (C) 2003 Elsevier B.V. Ltd and INQUA. All rights reserved.

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