85 resultados para gain of function mutation
A meta-analysis of the feed intake and growth performance of broiler chickens challenged by bacteria
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Germline mutations in TP53 gene are associated with Li-Fraumeni syndrome (LFS) and its variants Li-Fraumeni-like (LFL). They predispose carriers to a wide variety of early onset tumors. In Brazil, there is a high frequency of a germline mutation in this gene (NC_000017.9: c.1010G>A; p.R337H) in Southern and Southeastern regions, due to a founder effect. It is estimated to be present in 0,3% ofthe local population, but only few families have been detected. Due to this significant divergence, the purpose of this study was to verify the effectiveness of wider criteria for detection of these individuals. Herein, clinical criteria were established, DNA samples were collected, analyzed by Restriction Fragment Length Polymorphism (RFLP) and sequenced. Thus, assessing the prevalence of this mutation in families with multiple cases of cancer. Based on our proposed criteria, one out of 31 patients (3,22%) was found to carry p.R337H mutation. The patient developed ductal invasive breast cancer at age 47, invasive adenocarcinoma of the lung at age 48 and soft-tissue sarcoma at age 49. In addition, an extensive cancer family history was referred, atypical for LFS, including a case of Ewing’s sarcoma. These outcomes indicate that the proposed criteria may detect probable carriers who did not fit previous LFS criteria. Nevertheless, additional studies, which might include a larger number of families and more stringent parameters, will be useful to improve screening sensibility
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Foram utilizados 60 suínos machos castrados (89,1 ± 4,2 kg) para avaliar o uso de níveis (0, 5, 10, 15 e 20%) de restrição qualitativa, resultando em valores de 3.407, 3.240, 3.060, 2.890 e 2.720 kcal de energia digestível por quilo de ração. Dez animais foram abatidos no início do experimento para determinação da composição corporal inicial, enquanto os demais foram alimentados com as dietas experimentais até atingirem 128 kg. Utilizou-se o delineamento em blocos casualizados para controle das diferenças de peso inicial, com dez blocos, cinco tratamentos (dietas experimentais) e um animal por unidade experimental. Dados de características de desempenho, de carcaça e parâmetros séricos dos animais foram submetidos à análise de variância com posterior desdobramento em regressão em função dos níveis de restrição qualitativa das dietas. O aumento nos níveis de restrição qualitativa não alterou o consumo diário de ração, mas reduziu linearmente o consumo diário de energia digestível e o ganho diário de peso, piorando a conversão alimentar e melhorando a eficiência de utilização de energia pelos animais. Os níveis de restrição qualitativa provocaram redução linear dos níveis séricos de triacilgliceróis e da espessura de toucinho e aumento da porcentagem e quantidade de carne magra e do índice de bonificação das carcaças, mas não alteraram o ganho diário de carne magra. A utilização de restrição qualitativa é eficiente para reduzir a ingestão energética e a deposição de gordura em suínos não reduz a capacidade de produção de carne magra.
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A fauna de Ephemeroptera, Plecoptera e Trichoptera associadas ao folhiço em um riacho do sudeste do Brasil foi estudada com o objetivo de responder às seguintes questões: 1) A riqueza e a composição faunística de EPT difere entre os dois mesohabitats (corredeira-remanso) mesmo quando associadas ao mesmo substrato, folhiço? 2) A similaridade da fauna de EPT entre os dois mesohabitas muda temporalmente? 3) A estrutura funcional de EPT difere entre os dois mesohabitats (corredeira-remanso)? Para responder essas questões, coletas mensais, de novembro de 1999 a junho de 2000, foram feitas no Ribeirão Bocaina com rede D (10 acúmulos de folhas em remanso e 10 em corredeira). A fauna de EPT do Ribeirão Bocaina foi mais diversificada e mais abundante no folhiço em corredeira do que no folhiço em remanso, no entanto, quando a riqueza foi padronizada para o mesmo número de indivíduos essa se tornou similar para as duas condições. A fauna de EPT foi bastante diferente entre os dois mesohabitats, tanto em termos da composição faunística quanto em termos funcionais. Isso provavelmente ocorreu devido às diferenças de velocidade da água, no tempo de residência do folhiço e na taxa de oxigênio da água entre os dois mesohabitats.
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Blend films (free-standing) containing 20% in volume of polyaniline (PANI) in 80% of natural rubber (NR) were fabricated by casting in three different ways: (1) adding PANI-EB (emeraldine base) dissolved in N-methyl-2-pyrrolidone (NMP) to the latex (NRL), (2) adding PANI-EB dissolved in in-cresol to NR dissolved in xylol (NRD), (3) overlaying the surface of a pure NR cast film with a PANI layer grown by in situ polymerization (NRO). All the films were immersed into HCl solution to achieve the primary doping (protonation) of PANI before the characterization. The main goal here was to investigate the elastomeric and electrical conductivity properties for each blend, which may be applied as pressure and deformation sensors in the future. The characterization was carried out by optical microscopy, dc conductivity, vibrational spectroscopy (infrared absorption and Raman scattering), thermogravimetry analysis (TGA), differential scanning calorimetry (DSC), dynamic mechanical thermal analysis (DMTA), and tensile stress-strain curves. The results suggest that the NRL blend is the most suitable in terms of mechanical and electrical properties required for applications in pressure and deformation sensors: a gain of conductivity without losing the elastomeric property of the rubber. (c) 2005 Wiley Periodicals, Inc.
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Introduction: The proprioceptive neuromuscular facilitation technique (PNF) has been proven to be efficient, since it was found higher gain of joint range-of-motion compared to the classic stretching. This study aimed to perform a comparison between the muscular stretching techniques and the PNF hold-relax on the internal and external sagittal/diagonal plane.Method: Randomly divided in 3 groups by a drawing, 30 healthy male individuals have undergone the test. In group I the hold-relax technique was utilized on the sagittal plane, grupo II receveid hold-relax on the internal and external diagonals, and group III, on which an evaluation was performed, worked as control. All the groups went through tests on the first, fifth and fifteenth day after the application of the different approaches. In this evaluation it was used a Flexis (R) Fleximeter.Result: Group II (diagonal) obtained statistically significant gain of 13.99% in the immediate post-test and post test later obtained a loss of 4.81%, group I (sagittal) showed no statistical difference as the group III (control).Conclusion: We conclude that the technique of PNF in the diagonal plane is effective in the flexibility of the hamstring muscles.
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OBJETIVO: Verificar se os testes: Volume Expiratório Forçado no 1º segundo (VEF1), Teste de Caminhada de 6 minutos (TC6) e Teste de Escada (TE) se alteram proporcionalmente ao pulmão funcionante ressecado. MÉTODOS: Foram incluídos pacientes candidatos a toracotomia para ressecção pulmonar. No pré-operatório (pré) e no mínimo três meses após a cirurgia (pós), realizaram espirometria, TC6 e TE. O TE foi realizado em escada com 12,16m de altura. O tempo para subir todos os degraus o mais rápido possível foi chamado tempo de escada (tTE). Os cálculos dos valores dos testes preditos para o pós-operatório (ppo) foram realizados conforme o número de segmentos funcionantes perdidos. Os valores pré, ppo e pós foram comparados entre si para cada teste. Estatística: foi utilizada a análise de variância para medidas repetidas (ANOVA), com significância de 5%. RESULTADOS: Foram estudados 40 pacientes. A ressecção pulmonar variou desde o ganho de dois segmentos funcionantes até a perda de 9. Os valores pré, ppo e pós foram respectivamente: VEF1 -pré = 2,6±0,8L, ppo = 2,3±0,8L, pós = 2,3±0,8L (VEF1pré > VEF1ppo = VEF1pós), TC6-pré = 604±63m, ppo = 529±103m, pós = 599±74m (TC6pré = TC6pós > TC6ppo), tTE-pré = 32,9±7,6s, ppo = 37,8±12,1s, pós = 33,7±8,5s (tTEpré = tTEpós < tTEppo). CONCLUSÃO: Nas ressecções pulmonares, este grupo de pacientes perdeu função pulmonar medida através da espirometria, mas não perdeu a capacidade de exercício, medida através dos testes de escada e caminhada.
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Aberrant methylation of seven potential binding sites of the CTCF factor in the differentially methylated region upstream of the H19 gene (H19-DMR) has been suggested as critical for the regulation of IGF2 and H19 imprinted genes. In this study, we analyzed the allele-specific methylation pattern of CTCF binding sites 5 and 6 using methylationsensitive restriction enzyme PCR followed by RFLP analysis in matched tumoral and lymphocyte DNA from head-and-neck squamous cell carcinoma (HNSCC) patients, as well as in lymphocyte DNA from control individuals who were cancer-free. The monoallelic methylation pattern was maintained in CTCF binding site 5 in 22 heterozygous out of 91 samples analyzed. Nevertheless, a biallelic methylation pattern was detected in CTCF binding site 6 in a subgroup of HNSCC patients as a somatic acquired feature of tumor cells. An atypical biallelic methylation was also observed in both tumor and lymphocyte DNA from two patients, and at a high frequency in the control group (29 out of 64 informative controls). Additionally, we found that the C/T transition detected by HhaI RFLP suppressed one dinucleotide CpG in critical CTCF binding site 6, of a mutation showing polymorphic frequencies. Although a heterogeneous methylation pattern was observed after DNA sequencing modified by sodium bisulfite, the biallelic methylation pattern was confirmed in 9 out of 10 HNSCCs. These findings are likely to be relevant in the epigenetic regulation of the DMR, especially in pathological conditions in which the imprinting of IGF2 and H19 genes is disrupted.
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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This study assessed the behavior and the productive performance of lambs finished in feedlot receiving diets added with green propolis, brown propolis or monensin sodium. The experiment used a randomized block design that compared weight gain of 32 male lambs aged four months among four dietary treatments: (1) control, non-enriched diet; (2) with green propolis; (3) with brown propolis; and (4) with monensin sodium. The basic diet provided to all the groups was a total mixed ration (TMR) with a forage:concentrate ratio of 50:50, in which Tifton 85 (Cynodon spp.) grass was used as roughage feed and the concentrate was based on soybean meal, corn meal and minerals. The green propolis diet decreased rumination and increased resting time. The diets provided similar feeding rate (g/min). DM and aNDF intake (g/kg of body weight and g/kg of metabolic weight) were higher in the control treatment. Although the control group had the highest weight gain, the highest feed conversion and feed efficiency were found in lambs fed brown propolis and monensin sodium. Technically, brown propolis can substitute monensin sodium as a dietary additive for feedlot lambs. However, complementary studies are needed to identify the best levels of brown propolis to add to these diets. (C) 2011 Elsevier B.V. All rights reserved.
Evaluation of muscle tissue growth in Young Mediterranean Buffaloes slaughtered at different weights
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This study evaluated muscle, adipose and bone tissue growth in young Mediterranean buffaloes slaughtered with different weights. Twenty eight non-castrated males, approximately 14 months old and 330 kilos, were distributed in four experimental and one control groups. Received the same diet during a non-fixed period and when reached the pre-established weights (450 kg, 480 kg, 510 kg, 540 kg) were fasted for 16 hours and slaughtered. NRC 1996, level 2, ruminal simulation program for non-castrated animals with a daily weight gain of 1.40 kg determined percentage composition of experimental diet (dry matter): coast cross hay (20.6%), corn silage (7.8%), cotton seed (8.2%), humid corn silage (46%) and commercial mineral concentrate (17.4%), representing 13% of crude protein and 2,68% of metabolizable energy (Mcal/kg). Feed was offered ad libitum twice daily. Slaughter of control group occurred after 30 days of an adaptation period. The other ones were weighted each 28 days until reached pre-established weight. Carcasses were chilled for 18 hours under -5 degrees C. Ninth, 10 degrees and 11 degrees ribs of the half left carcass were submitted to HH section and according to the statistical regression analysis (SAS, 1996), allometric coefficient value was negative (b<1) demonstrating the early growth of muscle in relation to empty carcass weight.
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Utilizaram-se 32 bubalinos machos não-castrados, da raça Mediterrâneo, divididos aleatoriamente em cinco categorias. Os animais de uma categoria foram abatidos imediatamente, enquanto os demais foram alimentados, à vontade, com ração contendo 70% de concentrado (na matéria seca) e abatidos ao atingirem 450, 480, 510 ou 540 kg de peso corporal. Adotou-se a equação de regressão do logaritmo da quantidade corporal de carcaça e de seus tecidos (muscular, adiposo e ósseo) em função do logaritmo do peso de corpo vazio. A carcaça apresentou valor de alometria, o que indica desenvolvimento proporcionalmente igual ao do peso corporal vazio. Derivando as equações, obtiveram-se as equações de predição da participação dos componentes corporais no ganho de 1 kg de peso de corpo vazio. Na carcaça, o tecido adiposo teve maior impulso de crescimento em idade mais tardia, enquanto os tecidos ósseo e muscular tiveram maior impulso para crescimento em idade mais precoce.
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Odontogenic myxomas are considered to be a benign odontogenic tumor with locally aggressive behavior. Because these neoplasms are rare in the oral cavity, the possible surgical management can be quite variable. Literature recommendation can vary from simple curettage and peripheral ostectomy to segmental resection. The authors report a case of a 20-year-old patient with an odontogenic myxoma tumor located in the left mandibular angle, ascending ramus, and mandibular symphysis. It was treated by radical resection followed by titanium reconstruction with condylar prosthesis, which allowed rapid return of function with improvement in quality of life and restoration of cosmetic and functional deficits. The lesion did not recur after surgical procedure.
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Insertion and follow-up of complete dentures: a literature reviewObjective: The aim of this study was to present the importance of clinical procedures related to insertion and follow-up of complete dentures in elderly patients.Materials and Methods: The success of rehabilitation with complete dentures results from the accuracy of clinical and laboratorial procedures that makes the denture insertion an important step of treatment.Conclusion: The follow-up and professional maintenance of function and hygiene facilitates long-term efficiency.