28 resultados para Niemann Pick C1

em Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP)


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Heat treated electrical steel laminations have shown evidence of low ductility behavior, characterized by a small number of bends till fracture, on repeated bending tests. The laminations were produced using a new grade of electrical steel with much lower aluminum content than usual. The problem happens when the oxygen potential (measured by the dew point of the atmosphere) of the heat treatment atmosphere is abnormally high. Furthermore, ductility can be restored by a low-oxygen potential heat treatment. Although the heat treatment resulted in a loss of ductility, the magnetic properties were not deteriorated. The low ductility samples always show intergranular fracture, whereas the un-treated laminations fracture by cleavage. The low ductility is associated with the formation of silicon manganese nitride precipitates formed at grain boundaries, although they are not the cause of the low ductility. Ductility could be restored by a low dew point heat treatment but the inclusions remained in the grain boundaries. The low ductility and its recovery must be ascribed to the presence of nitrogen atoms segregated to the grain boundaries when the heat treatment atmosphere has a high oxygen potential. The lack of aluminum in the composition of the steel hinders the scavenging effect of this element on nitrogen atoms in solution in the steel. (C) 2009 Elsevier Ltd. All rights reserved.

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Background: Hereditary angioedema is an autosomal dominant disease characterized by episodes of subcutaneous and submucosal edema. It is caused by deficiency of the C1 inhibitor protein, leading to elevated levels of bradykinin. More than 200 mutations in C1 inhibitor gene have been reported. The aim of this study was to analyze clinical features of a large family with an index case of hereditary angioedema and to determine the disease-causing mutation in this family. Methods: Family pedigree was constructed with 275 individuals distributed in five generations. One hundred and sixty-five subjects were interviewed and investigated for mutation at the C1 inhibitor gene. Subjects reporting a history of recurrent episodes of angioedema and/or abdominal pain attacks underwent evaluation for hereditary angioedema. Results: We have identified a novel mutation at the C1 inhibitor gene, c.351delC, which is a single-nucleotide deletion of a cytosine on exon 3, resulting in frameshift with premature stop codon. Sequencing analysis of the hypothetical truncated C1 inhibitor protein allowed us to conclude that, if transcription occurs, this protein has no biological activity. Twenty-eight members of the family fulfilled diagnostic criteria for hereditary angioedema and all of them presented the c.351delC mutation. Variation in clinical presentation and severity of disease was observed among these patients. One hundred and thirty-seven subjects without hereditary angioedema did not have the c.351delC mutation. Conclusion: The present study provides definitive evidence to link a novel genetic mutation to the development of hereditary angioedema in patients from a Brazilian family.

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Background. Despite diagnostic and therapeutic advances in head and neck cancer, the 5-year survival of patients with laryngeal cancer has not improved in the last 30 years. Several recent studies indicate that specific targets for immunotherapeutic approaches can be useful in the control of cancer. There is considerable interest in the expression of cancer testis antigens in human cancers since they may serve as the basis for an immunologic approach to therapy. Methods. We evaluated by immunohistochemical analysis the expression of cancer testis antigens MAGE-A4 (57B), MAGE-C1 (CT7-33), MAGE-A1 (MA454), MAGE-A3 (M3H67), MAGE-C2 (CT10.5), NY-ESO-1 (E978), and GAGE (GAGE) in squamous cell carcinoma (SCC) of the larynx. Results. A total of 63 cases (57 men and 6 women) of laryngeal SCC were available for this study. The findings were correlated with the clinical course and laboratory data. Expression of at least 1 cancer testis antigen was detected in 42 of 63 of the laryngeal SCCs (67%). In 34 of 42 of the positive cases (81%) there was simultaneous expression of >= 2 cancer testis antigens. There was significant correlation between antigen expression and advanced tumor stage (stage III/IV) in cases with reactivity to only 1 antibody (p = .01) as well as in the cases with reactivity to >= 2 primary antibodies (>= 2 mAbs, p = .04). There was no association between survival and expression of any of the analyzed antigens. Conclusions. We find a high incidence of cancer testis antigen expression in SCCs of the larynx, which was correlated with advanced clinical stage. Our data indicate that cancer testis antigens could be valuable vaccine targets in laryngeal tumors, especially in those with a worse prognosis. (C) 2010 Wiley Periodicals, Inc. Head Neck 33: 702-707, 2011

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We use QCD sum rules to study the recently observed resonance-like structures in the pi(+)chi(c1) mass distribution, Z(1)(+) (4050) and Z(2)(+) (4250), considered as D*(+) (D) over bar*(0) and D(1)(+) (D) over bar (0) + D(+) (D) over bar (0)(1) molecules with the quantum number J(P) = 0(+) and J(P) = 1-, respectively. We consider the contributions of condensates up to dimension eight and work at leading order in alpha(s). We obtain m(D*D*) = (4.15 +/- 0.12) GeV, around 100 MeV above the D*D* threshold, and m(D1D) = (4.19 +/- 0.22) GeV, around 100 MeV below the D(1)D threshold. We conclude that the D*(+)(D) over bar*(0) state is probably a virtual state that is not related with the Z(1)(+) (4050) resonance-like structure. In the case of the D(1)D molecular state, considering the errors, its mass is consistent with both Z(1)(+)(4050) and Z(2)(+)(4250) resonance-like structures. Therefore, we conclude that no definite conclusion can be drawn for this state from the present analysis. (C) 2008 Elsevier B.V All rights reserved.

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The present paper reports results of the effect of Potato virus X (PVX) on the contents of total phenols and alkaloids in leaves of Datura stramonium. A significant decrease in the contents of phenols and alkaloids was observed in leaves inoculated with PVX (X-I). However, there was an increase in the percentage of phenols in leaves rubbed with phosphate buffer (C1-I) and in leaves from the nodes immediately above, possibly induced by mechanical injury. Gas chromatography/mass spectroscopy revealed amounts of scopolamine in samples submitted to all treatments, except X-I, in which the amount of this alkaloid was low. High amounts of an unidentified compound (molecular ion m/z 302 and a prominent peak at m/z 129) were noted in extracts from leaves X-I, C1-I and leaves from the nodes immediately above the leaves inoculated with PVX. It is suggested that the synthesis and accumulation of the unidentified compound is a result of stress from mechanical injury and virus inoculation.

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A atividade turística tem impacto também na saúde das populações de comunidades anfitriãs. Com base em estudo etnográfico e em 14 entrevistas com monitores(as) de turismo ambiental, o objetivo deste artigo é analisar como o cenário sexual no contexto do turismo e seus scripts sexuais constroem a vulnerabilidade de caiçaras às DSTs/HIV e ao mercado sexual. Scripts sexuais tradicionais operacionalizados num cenário de "curtição", "prazer", "desinibição sexual", evidenciaram desigualdades sociais entre caiçaras e turistas que ampliam a vulnerabilidade dos jovens às DSTs/HIV e à mercantilização de sua sexualidade. Os scripts sexuais femininos (passividade/ingenuidade) dificultavam a negociação do preservativo nas cenas sexuais coletadas; os "mais pró-ativos" eram interpretados como disponibilidade para "programas". Os scripts "não negar fogo", "catar as turistas" também ampliavam a vulnerabilidade dos rapazes. O contexto turístico constrói um cenário sexual singular e atravessa as trajetórias socioafetivas dos moradores. Seu impacto deve ser considerado por políticas e programas de saúde locais.

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Background: Schizophrenia is likely to be a consequence of DNA alterations that, together with environmental factors, will lead to protein expression differences and the ultimate establishment of the illness. The superior temporal gyrus is implicated in schizophrenia and executes functions such as the processing of speech, language skills and sound processing. Methods: We performed an individual comparative proteome analysis using two-dimensional gel electrophoresis of 9 schizophrenia and 6 healthy control patients' left posterior superior temporal gyrus (Wernicke's area - BA22p) identifying by mass spectrometry several protein expression alterations that could be related to the disease. Results: Our analysis revealed 11 downregulated and 14 upregulated proteins, most of them related to energy metabolism. Whereas many of the identified proteins have been previously implicated in schizophrenia, such as fructose-bisphosphate aldolase C, creatine kinase and neuron-specific enolase, new putative disease markers were also identified such as dihydrolipoyl dehydrogenase, tropomyosin 3, breast cancer metastasis-suppressor 1, heterogeneous nuclear ribonucleoproteins C1/C2 and phosphate carrier protein, mitochondrial precursor. Besides, the differential expression of peroxiredoxin 6 (PRDX6) and glial fibrillary acidic protein (GFAP) were confirmed by western blot in schizophrenia prefrontal cortex. Conclusion: Our data supports a dysregulation of energy metabolism in schizophrenia as well as suggests new markers that may contribute to a better understanding of this complex disease.

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Several quantum paramagnets exhibit magnetic-field-induced quantum phase transitions to an anti-ferromagnetic state that exists for H(c1) <= H <= H(c2). For some of these compounds, there is a significant asymmetry between the low-and high-field transitions. We present specific heat and thermal conductivity measurements in NiCl(2)-4SC(NH(2))(2), together with calculations which show that the asymmetry is caused by a strong mass renormalization due to quantum fluctuations for H <= H(c1) that are absent for H >= H(c2). We argue that the enigmatic lack of asymmetry in thermal conductivity is due to a concomitant renormalization of the impurity scattering.

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In this work, we demonstrate field-induced Bose-Einstein condensation (BEC) in the organic compound NiCl(2)-4SC(NH(2))(2) using ac susceptibility measurements down to 1 mK. The Ni S=1 spins exhibit 3D XY antiferromagnetism between a lower critical field H(c1)similar to 2 T and a upper critical field H(c2)similar to 12 T. The results show a power-law temperature dependence of the phase transition line H(c1)(T)-H(c1)(0)=aT(alpha) with alpha=1.47 +/- 0.10 and H(c1)(0)=2.053 T, consistent with the 3D BEC universality class. Near H(c2), a kink was found in the phase boundary at approximately 150 mK.

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The elastic-scattering angular distribution for (8)Li on (12)C has been measured at E(LAB) = 23.9 MeV with (8)Li radioactive nuclear beam produced by the Radioactive Ion Beams in Brazil facility. This angular distribution was analyzed in terms of optical-model with Woods-Saxon and double-folding Sao Paulo potential. The roles of the breakup and inelastic channels were also investigated with cluster folding and deformed potentials, respectively, through coupled-channels calculations. The angular distribution for the proton-transfer (12)C((8)Li, (9)Be)(11)B reaction was also measured at the same energy. The spectroscopic factor for the <(9)Be|(8)Li + p > bound system was obtained and compared with shell-model calculations and with other experimental values. Total reaction cross sections for the present system were also extracted from the elastic-scattering analysis. A systematic of the reduced reaction cross sections obtained from the present and published data on (6,7,8)Li isotopes on (12)C was performed as a function of energy.

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Despite the fact that the majority of the catalytic electro-oxidation of small organic molecules presents oscillatory kinetics under certain conditions, there are few systematic studies concerning the influence of experimental parameters on the oscillatory dynamics. Of the studies available, most are devoted to C1 molecules and just some scattered data are available for C2 molecules. We present in this work a comprehensive study of the electro-oxidation of ethylene glycol on polycrystalline platinum surfaces and in alkaline media. The system was studied by means of electrochemical impedance spectroscopy, cyclic voltammetry, and chronoamperometry, and the impact of parameters such as applied current, ethylene glycol concentration, and temperature were investigated. As in the case of other parent systems, the instabilities in this system were associated with a hidden negative differential resistance, as identified by impedance data. Very rich and robust dynamics were observed, including the presence of harmonic and mixed mode oscillations and chaotic states, in some parameter region. Oscillation frequencies of about 16 Hz characterized the fastest oscillations ever reported for the electro-oxidation of small organic molecules. Those high frequencies were strongly influenced by the electrolyte pH and far less affected by the EG concentration. The system was regularly dependent on temperature under voltammetric conditions but rather independent within the oscillatory regime.

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The objectives of this study were to isolate psychrotrophic clostridia from Brazilian vacuum-packed beef cuts (spoiled or not) and to identify the isolates by using 16S rRNA gene sequencing. Anaerobic psychrotrophic microorganisms were also enumerated and samples were collected to verify the incidence of psychrotrophic clostridia in the abattoir environment. Vacuum-packed beef cuts (n = 8 grossly distended and n = 5 non-spoiled) and environmental samples were obtained from a beef packing plant located in the state of Sao Paulo, Brazil. Each sample was divided in three subsamples (exudate, beef surface and beef core) that were analyzed for vegetative forms, total spore-forming, and sulfide reducing spore-forming, both activated by alcohol and heat. Biochemical profiles of the isolates were obtained using API20A, with further identification using 16S rRNA gene sequencing. The growth temperature and the pH range were also assessed. Populations of psychrotrophic anaerobic vegetative microorganisms of up to 10(10) CFU/(g, mL or 100 cm(2)) were found in `blown pack` samples, while in non-spoiled samples populations of 10(5) CFU/(g, CFU/mL or CFU/100cm(2)) was found. Overall, a higher population of total spores and sulfide reducing spores activated by heat in spoiled samples was found. Clostridium gasigenes (n = 10) and C. algidicarnis (n = 2) were identified using 16S rRNA gene sequencing. Among the ten C. gasigenes isolates, six were from spoiled samples (C1, C2 and C9), two were isolated from non-spoiled samples (C4 and C5) and two were isolated from the hide and the abattoir corridor/beef cut conveyor belt. C. algidicarnis was recovered from spoiled beef packs (C2). Although some samples (C3, C7, C10 and C14) presented signs of `blown pack` spoilage, Clostridium was not recovered. C. algidicarnis (n = 1) and C. gasigenes (n = 9) isolates have shown a psychrotrophic behavior, grew in the range 6.2-8.2. This is the first report on the isolation of psychrotrophic Clostridium (C. gasigenes and C. algidicarnis) in Brazil. This study shows that psychrotrophic Clostridium may pose a risk for the stability of vacuum-packed beef produced in tropical countries during shelf-life and highlights the need of adopting control measures to reduce their incidence in abattoir and the occurrence of `blown pack` spoilage. (C) 2011 Elsevier B.V. All rights reserved.

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The premature failure of a horizontal heat-exchanger, which occurred after service exposure at 580 degrees C for 50,000 h, revealed the occurrence of extensive through-thickness cracking in approximately 40% of the tube/stationary tube-sheet welds. Additionally, the internal surface of the welded joint featured intensive secondary intergranular cracking (up to 250 mu m deep), preferential formation of a 150 mu m thick layer of (Fe, Cr)(3)O-4 and internal intergranular oxidation (40 mu m deep). The welded region also showed intense carbon pick-up and, as consequence, severe precipitation of intergranular M7C3 and M23C6 carbides. The fracture surface was composed of two distinct regions: a ""planar"" region of 250 mu m, formed due to the stable crack growth along by the intergranular oxidation; and a slant region with radial marks, formed by the fast crack growth along the network of intergranular carbides. The association of intergranular oxidation pre-cracks with microstructural embrittlement promoted the premature failure, which took place by an overload mechanism, probably due to the jamming of the floating tube-sheet during the maintenance halt (cooling operation). (C) 2007 Elsevier Ltd. All rights reserved.

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Aiming to achieve the ideal time of ovum pick-up (OPU) for in vitro embryo production (IVP) in crossbred heifers, two Latin square design studies investigated the effect of ovarian follicular wave synchronization with estradiol benzoate (EB) and progestins. For each experiment, crossbred heifers stage of estrous cycle was synchronized either with a norgestomet ear implant (Experiment 1) or a progesterone intravaginal device (Experiment 2) for 7d, followed by the administration of 150 mu g D-cloprostenol. On Day 7, all follicles >3 mm in diameter were aspirated and implants/devices were replaced by new ones. Afterwards, implant/device replacement was conducted every 14 d. Each experiment had three treatment groups. In Experiment I (n = 12), heifers in Group 2X had their follicles aspirated twice a week and those in Groups 1X and 1X-EB were submitted to OPU once a week for a period of 28 d. Heifers from Group 1X-EB also received 2 mg EB i.m. immediately after each OPU session. In Experiment 2 (n = 11), animals from Group 0EB did not receive EB while heifers in Groups 2EB and 5EB received 2 and 5 mg of EB respectively, immediately after OPU. The OPU sessions were performed once weekly for 28 d. Therefore, in both experiments, four OPU sessions were performed in heifers aspirated once a week and in Experiment 1, eight OPU sessions were done in heifers aspirated twice a week. Additionally, during the 7-d period following follicular aspiration, ovarian ultrasonography examinations were conducted to measure diameter of the largest follicle and blood samples were collected for FSH quantification by RIA. In Experiment 1, all viable oocytes recovered were in vitro matured and fertilized. Results indicated that while progestin and EB altered follicular wave patterns, this treatment did not prevent establishment of follicular dominance on the ovaries of heifers during OPU at 7-d intervals. Furthermore, the proposed stage of follicular wave synchronization strategies did not improve the number and quality of the recovered oocytes, or the number of in vitro produced embryos. (C) 2009 Elsevier B.V. All rights reserved.

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C14H12F2Te2, monoclinic, C12/c1 (no. 15), a = 23.650(2) angstrom, b = 7.792(1) angstrom, c = 7.556(1) angstrom, beta = 106.47(1)degrees, V = 1335.2 angstrom(3), Z = 4, R-gt(F) = 0.041, wR(ref)(F-2) = 0.123, T= 98 K.