939 resultados para familial juvenile hyperuricaemic nephropathy


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The fat body (FB) consists of two types of cells: throphocytes and oenocytes. Throphocytes are related to intermediary metabolism storing lipids, carbohydrates, and proteins while oenocytes play role in the lipids and lipoproteins production. The vitellogenin is the precursor of egg yolk (vitelline) and is synthesized on FB. The aim of this work was to analyze the effects of hormones acting in bee reproduction, as juvenile hormone (JH) and ecdisteroids (20 HE) on FB cells, where vitellogenin is synthesized. For the study were chose nurse workers that in Melipona quadrifasciata anthidioides present activated ovaries and produce eggs, and virgin queens whose ovaries are not yet activated, presenting only previtellogenic follicles. FB trophocytes from these classes of bees were cultivated in media containing different amounts of JH and 20-HE. The effects on trophocytes cytoplasm reserves of lipids, proteins, and activity of acid phosphatase were compared by observing preparations from cultured FB, treated and control, by transmission electron microscopy (TEM). The results showed that the hormones effects are related to the bee's caste and functional ovary stage. The role of acid phosphatase on mobilization of the trophocyte reserves was also determined. © 2012 Wiley Periodicals, Inc.

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The purpose of this study it was to evaluate the frequency of Multiple Endocrine Neoplasia type 1 (MEN1) in patients with pituitary adenoma and to perform genetic analysis and familial screening of those individuals afflicted with MEN1. 144 patients with pituitary adenoma at Botucatu Medical School, UNESP-Univ Estadual Paulista, were assessed retrospectively for MEN1 during the years of 2005-2011. The patients were evaluated for the presence of primary hyperparathyroidism (PHP) and enteropancreatic tumors. Genetic analysis was performed for the individuals with clinically diagnosed MEN1. Thirteen patients met the diagnostic criteria for MEN1, but three individuals belong to the same family and they were considered as a single MEN1 event, revealing 7.7 % frequency of MEN1 in this patient group. Genetic analysis showed MEN1 mutations in four index cases: IVS4+1 G>A, IVS3-6 C>T, c.1547insC and a new D180A mutation. One patient did not agree to participate in the genetic study and another one was referred for follow up in other hospital. Only polymorphisms were found in the other individuals, one of which was novel. We identified a high frequency of MEN1 in pituitary adenoma patients. Since PHP is one of the most common MEN1 tumor and patients are mostly asymptomatic, we suggest that all pituitary adenoma patients have their calcium profile analyzed. © 2013 Springer Science+Business Media New York.

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Muscle growth mechanisms are controlled by molecular pathways that can be affected by fasting and refeeding. In this study, we hypothesized that short period of fasting followed by refeeding would change the expression of muscle growth-related genes in juvenile Nile tilapia (Oreochromis niloticus). The aim of this study was to analyze the expression of MyoD, myogenin and myostatin and the muscle growth characteristics in the white muscle of juvenile Nile tilapia during short period of fasting followed by refeeding. Juvenile fish were divided into three groups: (FC) control, feeding continuously for 42. days, (F5) 5. days of fasting and 37. days of refeeding, and (F10) 10. days of fasting and 32. days of refeeding. At days 5 (D5), 10 (D10), 20 (D20) and 42 (D42), fish (n = 14 per group) were anesthetized and euthanized for morphological, morphometric and gene expression analyses. During the refeeding, fasted fish gained weight continuously and, at the end of the experiment (D42), F5 showed total compensatory mass gain. After 5 and 10. days of fasting, a significant increase in the muscle fiber frequency (class 20) occurred in F5 and F10 compared to FC that showed a high muscle fiber frequency in class 40. At D42, the muscle fiber frequency in class 20 was higher in F5. After 5. days of fasting, MyoD and myogenin gene expressions were lower and myostatin expression levels were higher in F5 and F10 compared to FC; at D42, MyoD, myogenin and myostatin gene expression was similar among all groups. In conclusion, this study showed that short periods of fasting promoted muscle fiber atrophy in the juvenile Nile tilapia and the refeeding caused compensatory mass gain and changed the expression of muscle growth-related genes that promote muscle growth. These fasting and refeeding protocols have proven useful for understanding the effects of alternative warm fish feeding strategies on muscle growth-related genes. © 2013.

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Background: Granulocyte colony-stimulating factor (G-CSF) and Erythropoietin (EPO) are known to stimulate the growth and differentiation of progenitor cells to prevent acute renal injury. This study aimed to assess the use of growth factors to mobilize stem cell in a mouse model of adriamycin-induced chronic kidney disease. Methods: All animals were injected with adriamycin for kidney injury and allocated into three treatment groups (G-CSF, EPO and G-CSF + EPO), and a control group (adriamycin alone). Results: Number of atrophic sites, glomerulosclerosis rate and interstitial fibrosis severity score were assessed in all groups. In all treatment groups, histologic parameters did not significantly differ, but were lower than in the control group (P<.001). Scal and CD34 expressions among treatment groups showed no statistically significant difference, but were higher than in the control group (P<.0001). CD105 expression was higher in EPO and G+EPO as compared to G-CSF and the control group (P<.0001), with no statistically significant difference between the latter two groups (P = NS). Conclusion: G-CSF and EPO had a histologic protective effect, while treatment with EPO + G-CSF had no additive effects in a model of adriamycin-induced chronic kidney disease. © 2013 Societá Italiana di Nefrologia.

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Kraft pulp produced from juvenile and mature wood from thirty-two-year-old Corymbia citriodora trees was evaluated. The stem was subdivided into regions of juvenile and mature wood, and then it was transformed into chips. These materials were then cooked in the Laboratory of Pulp and Paper at São Paulo State University (UNESP, Botucatu, SP, Brazil) and the physico-mechanical properties of the pulps were determined. The results showed that: (1) the pulp yields of mature wood were up to 4.4% greater in comparison to the juvenile wood, (2) the juvenile wood pulp required a shorter refining time than mature wood to reach the same Schopper-Riegler degree, (3) the juvenile wood pulp presented lower specific volume, and (4) the mature wood pulp presented greater air resistance, tensile, tear and burst index values, stress-strain factor, and stretch than the juvenile wood pulp.

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Colossoma macropomum, also known as tambaqui, is an economically important fish species, and interesting new studies have been published with the aim of improving the growth of this fish. In this work, we describe the morphometric characteristics, as well as the mRNA and protein expression levels of two myogenic regulatory factors (MRFs)-myod/MyoD and myogenin/Myogenin-in the white and red muscle types of tambaqui. A high proportion of white and red muscle fibers with large diameters suggest a hypertrophic growth process in the skeletal muscle during juvenile stages. Comparisons between muscle types showed that, in red muscle, myogenin transcript levels were significantly higher than those of myod. In contrast, MyoD protein levels were significantly higher than those of Myogenin in red muscle. These results suggest that in red and white muscles of juvenile tambaqui, independent post-transcriptional mechanisms for regulating MyoD and Myogenin expression may exist, which could be differentially activated during muscle growth. Furthermore, these data also suggest that specific control mechanisms may regulate distinct muscle phenotypes. © 2013 The Royal Swedish Academy of Sciences.

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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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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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ABSTRACT: This present study re-describes the megalopa stage and provides detailed morphological descriptions and main growth changes observed in stages I through VII of the juvenile instars of the dark shore crab Pachygrapsus gracilis (Saussure, 1858), from the Amazon region. The specimens in this study were reared in the laboratory and the megalopae were collected at Ajuruteua beach in northeastern Pará, Brazil. Previous studies had described the megalopa of P. gracilis from Mexican waters, as well as those of Pachygrapsus transversus (Gibbes, 1850) and Pachygrapsus marmoratus (Fabricius, 1787). A comparison between the Mexican and Amazonian populations of P. gracilis revealed significant morphological differences. The main difference is the presence of 3 elongated setae on the 5th pereiopods of individuals of the Amazonian population. The setal number and their arrangement in the appendages also differed. In P. gracilis, the male and female genital openings are observed from the juvenile instar III, whereas differentiation in male pleopods is observed only in juvenile instar V. In females, the pleopods undergo rapid differentiation during juvenile instar VI. These morphological comparisons and other observations on development are briefly compared and discussed with reports for other species.

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A dieta e a ecologia alimentar de juvenis de Lutjanus jocu foram verificadas em 92 espécimes coletados em quatro canais de maré do estuário do rio Curuçá, Norte do Brasil, entre setembro de 2003 e julho de 2004. O comprimento total dos peixes coletados não apresentou diferenças significativas entre os meses amostrados. A intensidade alimentar foi elevada conforme indicado pelos altos valores do índice de repleção estomacal e os baixos valores do índice de vacuidade. A presa mais importante foi Penaeidae, seguida por Grapsidae e Porcellanidae. A dieta de juvenis de L. jocu apresentou diferenças sazonais evidentes. Os espécimes da estação seca (setembro e novembro) e transição seca/chuvosa (janeiro) foram considerados especialistas alimentando-se exclusivamente de Penaeidae. No entanto, os espécimes da estação chuvosa (março e maio) e da transição chuvosa/seca (julho), que alimentaram-se principalmente de Grapsidae, Penaeidae e Porcellanidae, foram considerados generalistas. Esta mudança sazonal na dieta poderia estar relacionada com a disponibilidade do alimento.

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O câncer colorretal é um grave problema de saúde pública na região norte, sendo a 3a neoplasia mais frequente entre os homens e a 2a entre as mulheres. Cerca de 10% destes tumores são hereditários e a polipose adenomatosa familial está entre as principais causas destes. Mutações no gene APC são responsáveis pelo desenvolvimento de tumores nestes pacientes e estão presentes desde a fase mais precoce na carcinogênese, além disso, existe uma relação entre o tipo de mutação e apresentação clínica da doença. Até o presente momento não existe uma publicação com o perfil de mutação do gene APC na região norte do país. Este trabalho tem como objetivo principal, identificar o perfil de mutações no gene APC em famílias do estado do Pará. Um total de 15 pacientes foi analisado provenientes de cinco famílias, todos atendidos no UNACON do HUJBB. Foi realizado a extração de DNA do sangue periférico e realizado um sequenciamento direto em um membro de cada família, obtendo desta forma um screening molecular e os demais membros da família foram genotipados pela técnica ARMS. A análise estatística foi realizada pelos softwares que acompanham o próprio produto. Neste estudo foram encontrados mutações nos 15 membros estudados (provenientes das 5 famílias), 40% das quais eram do tipo frameshift, 35% silenciadoras e 20% nonsense. Sendo que 60% de todas as mutações ocorreram na região MCR. Entre as três mutações mais frequentes na literatura, neste estudo foram encontradas duas: códon 1309 (em 40% dos indivíduos) e no códon 1061 (em 10% dos indivíduos). Estes números foram bem diferentes dos encontrados na literatura, reforçando o papel da miscigenação na frequência das mutações. A mutação c.3956delC foi a única encontrada em todas as famílias analisadas, o que pode comportar-se como um forte biomarcador desta síndrome. A avaliação clínica dos pacientes confirmou a correlação genótipo/fenótipo, sendo um fator determinante para o direcionamento clínico e aconselhamento genético. A plataforma confeccionada para análise de mutações pela técnica ARMS será de grande utilidade, já que conseguiu detectar mutações no 15 indivíduos estudados a um custo bem inferior que o sequenciamento direto por PCR.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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PURPOSE: to evaluate and compare the fluency between the familial and the sporadic persistent developmental stuttering, characterizing the typology and the frequency of the disfluencies, the speech rate and the severity of the stuttering. METHOD: 40 participants aged from 6 to 42 years old, divided in two groups with twenty participants in each one: Familial Persistent Developmental Stuttering and Sporadic Persistent Developmental Stuttering. The procedures used were: clinical and familial history, assessment of fluency and Stuttering Severity Instrument. RESULTS: there were no statistically significant differences between the groups regarding the frequency of stuttering like disfluencies, the flow of syllables and words per minute and the severity of stuttering. It was noted a tendency of the group with familial stuttering to show a bigger variability of the severity of stuttering, going from mild to very severe, whereas in the group with sporadic stuttering, the severity varied from mild to severe. CONCLUSION: this study represents the first effort to the characterization of the speech fluency profile of the subgroups of people who stutter, namely familial persistent developmental stuttering and sporadic persistent developmental stuttering. It is possible to conclude that the speech fluency profile of people who stutter, independently of the familial history, is similar. It is noteworthy that the occurrence of some stuttering-like disfluencies, monosyllabic word repetition, block and intrusion were different between groups.

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This study aimed to evaluate the effect of thermal treatment on the physical properties of juvenile and mature woods of Eucalyptus grandis. Boards were taken from 30-year-old E. grandis trees. The boards were thermally modified at 180 °C in the Laboratory of Wood Drying and Preservation at UNESP, Botucatu, Sao Paulo state, Brazil. The results showed that thermal modification caused: (1) decrease of 6.8% in the density at 0% equilibrium moisture content of mature wood; (2) significant decreases of 14.7% and 35.6% in the maximum volumetric swellings of juvenile and mature woods, respectively; (3) significant decreases of 13.7% and 21.3% in the equilibrium moisture content of juvenile and mature woods, respectively. The influence of thermal modification in juvenile wood was lower than in mature wood and caused greater uniformity in the physical variations between these types of wood in E. grandis.