16 resultados para Erros inatos do metabolismo

em Universidade Federal do Rio Grande do Norte(UFRN)


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As mucopolissacaridoses (MPS) são doenças genéticas raras decorrente da deficiência de enzimas lisossomais envolvidas no catabolismo de glicosaminoglicanos, resultando em um amplo espectro de manifestações clínicas, progressivas e multissistêmicas, exigindo tratamento por uma equipe multidisciplinar. Embora o Nordeste brasileiro seja uma região com grande taxa de consangüinidade e um efeito fundador envolvendo MPS, não há estudos caracterizando os pacientes dessa região. Nosso objetivo foi determinar o perfil epidemiológico, clínico e genético de casos não publicados com MPS provenientes do Ceará, identificando as diferenças entre outros estudos com MPS e possíveis problemas a serem enfrentados para a realização do diagnóstico precoce. O estudo foi seccional, descritivo, com amostra de pacientes com MPS em acompanhamento no Hospital Infantil Albert Sabin e Hospital Geral Cesar Cals no período de 2006-2013. Os dados foram obtidos a partir da avaliação clínica, revisão de prontuários médicos e entrevista com os pacientes e/ou familiares realizadas pelo investigador principal. Cinquenta e três pacientes foram incluídos no estudo (36 do sexo masculino), sendo 6 MPS I, 17 MPS II, 7 MPS III (3 MPSIII-A, 3 MPS III-B, 1 MPS III-C), 7 MPS IV-A, 16 de MPS VI. O óbito ocorreu em 16 casos (3 MPS I, MPS II 6, 1 MPS IIIA , IIIB 1MPS , 1 MPS IV , 4 MPS VI). A amostra foi composta principalmente por crianças. Houve elevada taxa de consangüinidade e recorrência familiar. Os tipos mais comuns foram MPS II e MPS VI. Exceto para macrossomia em MPS II, os dados de nascimento indicam que não houve risco para desenvolvimento de viii complicações perinatais. Os sintomas iniciaram em crianças com menos de 2 anos. As manifestações clínicas foram heterogêneas exceto para atraso no desenvolvimento neurológico em MPS III e manifestações esqueléticas em MPS IV. As principais características clínicas foram macrocefalia, baixa estatura, alterações odontológicas, respiratórias, cardíacas, hepatoesplenomegalia, hérnia umbilical, rigidez articular e anormalidades esqueléticas. A terapia de reposição enzimática foi instituída em 26 casos (4 MPS I, 10 MPS II, 12 MPS VI). Os problemas sócio-econômicos das famílias, o amplo espectro de sintomas e a gravidade da doença foram causas das dificuldades em realizar a avaliação periódica pela equipe multidisciplinar, além de exames complementares de maior custo para determinar as complicações da doença. Este foi o maior estudo transversal sobre MPS no Nordeste do Brasil. Em contraste com a maior incidência de MPS I na maioria das populações ocidentais, houve maior incidência de MPS II e VI. As alterações respiratórias foram um dos principais contribuintes para a mortalidade precoce, exceto nos casos de MPS I, em que a cardiomiopatia foi prevalente. A menor expectativa de vida ocorreu em MPS I. O envolvimento cognitivo foi comum em casos graves e o maior número de órgãos envolvidos representou maior risco de morrer. Para o diagnóstico precoce, deve-se buscar indivíduos afetados em famílias em que há parentes com MPS, além do maior reconhecimento de sinais e sintomas de MPS por profissionais de saúde

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American visceral leishmaniasis (AVL), caused by Leishmania infantum chagasi (L.i.chagasi), stands as a public health problem in Brazil, with human and canine cases related in all states..Lipid metabolism can be modified in several status of infection. For example, experimental studies show that the cholesterol is necessary to internalization and replication of L.i.chagasi in macrophages through caveolar domains. Patients with AVL present low levels of cholesterol and a visible triglycerides increase. This work aimed to evaluate the lipid metabolism in several post-infection status by L.i.chagasi, including individuals with symptomatic infection (AVL), and asymptomatic. The levels of cholesterol, triglycerides, HDL and reactive C protein, were measured. Individuals with AVL were compared with individuals with assymptomatic infection and presented low levels of total cholesterol (128 ± 6.180 mg/dL vs. 158 ±5.733 mg/dL, p=0.0001), HDL (29 ± 1.746 mg/dL vs. 37 ± 1.647 mg/dL, p=0.0001), increased levels of triglycerides (149.5 mg/dL ± 12.72 vs. 78.00 ± 10.43 mg/dL, p=0.0095) and higher levels of reactive C protein (1.750± 0.4939 mg/dL vs. 0.40 ± 0.1707 mg/dL; p=0.0001). The expression of genes related to lipid metabolism, such as LXR-a, LXR-b, PPAR-a, PPAR-d, PPAR-g and APOE was evaluated by real time PCR. A reduction in the expression of those genes was found in the group of AVL patients corroborating the serum levels of the metabolites earlier quantified. Our findings suggest a modulation of metabolism of lipids, in the chronic phase of AVL, this could facilitate the survival of leishmania, due to the known reduction on the ability of macrophages in presenting antigens efficiently to the T cells due to the reduction in the cholesterol available, it results in a subversion of the host immunity.

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Although many studies point to alterations in the organic concentrations of zinc in elderly patients, the mechanisms by which aging might cause changes in the metabolism of this nutrient remain unclear. Thus, we assessed the changes in plasma zinc, Zinc Binding Capacity to Plasma Protein (ZnBCPP) and Saturation Index (SI), comparing elderly individuals and young adults. The zinc analyses were performed by atomic absorption spectrophotometry. A statistically significant difference (p < 0.001) was found between the two groups, in relation to plasma zinc and SI, but the ZnBCPP did not differ between the younger and older subjects. In agreement with this result, it was shown in the young group that 76% (R2 = 0.760) of the ZnBCPP variations are explained by the variations in plasma zinc and SI. In the elderly group this measure decreased to 30.5% (R2 = 0.305). We conclude, therefore, that aging may be a factor associated to changes in control mechanisms and in zinc homeostasis, and could even alter ZnBCPP response patterns and other zinc-related indicators of nutritional status.

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This study investigated the influence of partial colectomy associated with hepatectomy on the biodistribution of the 99mTc-phytate, on metabolic parameters, as well as labeling and morphology of red blood cells. Wistar rats were distributed into three groups (each with 6), nominated as colectomy, colectomy+hepatectomy and sham. In the 30th postoperative day all rats were injected with 99mTc-phytate 0.1mL i.v. (radioactivity 0.66 MBq). After 15 minutes, liver sample was harvested and weighed. Percentage radioactivity per gram of tissue (%ATI/g) was determined using an automatic gamma-counter. Serum AST, ALT, alkaline phosphatase and red blood cells labeling were determined. The liver %ATI/g and red blood cells labeling were lower in colectomy and colectomy+hepatectomy rats than in sham rats (p <0.05), and no difference was detected comparing the colectomy and colectomy+hepatectomy groups. Red blood cells morphology did not differ among groups. Serum levels of AST, ALT and alkaline fosfatase were significantly higher in colectomy+hepatectomy than in colectomy rats (p<0.001). Hepatectomy associated with colectomy lowered the uptake of radiopharmaceutical in liver and in red blood cells in rats, coinciding with changes in liver enzymatic activity

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Bone is a dynamic tissue that is in constant process of remodeling in response to mechanical stress and hormonal changes. This study aimed to understand the relationship between the biochemical changes, which women in the menopausal transition are subject to, and how the use of an alternative therapy with lipoic acid (LA) could influence these changes. The study of double-blind, was carried out in perimenopausal women that underwent a three month treatment with 600 mg of AL compared with another group that received placebo during the same period. This study showed that women had a waist circunference and body mass index above the values recommended by WHO (WC ≥ 80 cm; BMI > 25kg/m2). Associated with this, these women had increased concentrations of total cholesterol and triglycerides, and borderline LDL (Total Cholesterol > 200mg/dL; Triglycerides > 150mg/dL; LDL >130mg/dL). These changes were not affected by treatment with AL. There were no shifts in liver profile (ALT, AST and GGT), kidney profile (urea, creatinine, total protein and albumin), mineral profile (Total Calcium, Ionized Calcium, Phosphorus and Magnesium) as well in bone markers (osteocalcin, Total Alkaline Phosphatase and Tartrate Resistant Acid Phosphatase) after treatment with LA. The results of the oxidative profile showed that treatment with LA decreased GPx activity (p < 0,01), while for the TBARS, GSH and SOD activity there were no differences. With regard to SOD, this enzyme will submit to be high in the placebo group after 3 months of study (p<0,05). The expression of RANKL mRNA was reduced (p < 0,05) and of RANK increased (p <0.001), after treatment with LA, while the expression of IL-6 and TNF-ɑ genes were no changed. We conclude that women already in the perimenopause stage have changes in lipid profile and body composition that could induce shifts in oxidative and bone metabolism. However, LA treatment has provided an effective effect in the oxidative and bone profile since the earliest markers such as GPx activity and mRNA expression of RANKL, respectively, were reduced associated with no change in SOD activity. These results suggest a beneficial and protective effect of LA, indicating it potential as an alternative treatment to help the to prevent the complications associated with estrogen deficiency

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The congenital facial clefts are characterized by incomplete formation of the structures that separate the oral and nasal cavity. It is known that several environmental and genetic factors are involved in its development, among these, polymorphisms associated with folic acid metabolism have been investigated. In this sense, the objective was to observe the frequency of polymorphisms C677T and A1298C methylenetetrahydrofolate reductase gene (MTHFR), methionine synthase A2756G of (MTR), A66G of methionine synthase reductase (MTRR) A80G and the reduced folate carrier (RFC1) in patients with non-syndromic oral clefts, trying to match them with their development. Methods: We studied 140 patients with non-syndromic oral clefts and their mothers and 175 control subjects with their mothers, who underwent a questionnaire to obtain family information. Were collecting blood for DNA extraction from patients and their mothers to identify the genotypes of both by PCRRFLP, in addition to carrying out the determination of glucose, AST, ALT and serum creatinine, folic acid and vitamin B12 Serum and plasma homocysteine, and the hemogram. Results: Most patients have cleft lip and palate (55.8%), followed by isolated cleft palate (24.2%) and cleft lip (20%). Regarding gender, 62% of patients were male and 48% female and, after subdivision of the type of screwdriver according to sex was found a prevalence of males in the cracks of the type lip and palate (69 %) and lip (69.2%) and in the case of cleft palate was a female predominance (59%). The average concentration of serum folate in the group of mothers of cleft patients was significantly lower (13.8 ± 2.4 ng / mL) compared with the group of mothers of control subjects (18.8 ± 3.4 ng / mL) This was also observed for the group of cleft children as compared to controls, the dosage of folic acid had a significant difference with values of 15.6 ± 0.6 (ng / mL) and 17.9 ± 0.6 (ng / mL), respectively. For the biochemical measurements of glucose, AST, ALT and creatinine were not statistically different, nor was observed for haematological parameters performed. In assessing the frequency of polymorphisms C677T and A1298C MTHFR, A2756G MTR, MTRR A66G and A80G of the RFC1 there was no statistically significant difference in genotype distribution between cases and controls both for mothers and in the cleft. Conclusion: Although not observed association of polymorphisms with the development of cracks, the decrease in serum folate in the group of cleft patients and their mothers may reflect a disturbance in the metabolism of this metabolite, necessitating further studies such as studies methylation and expression to further elucidate the involvement of folate in the development of oral clefts

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The attention with safety of the patients is important in the quality of the nursing and health care. In the pre-hospital care, such care is essential on site with the purpose of avoiding possible consequences to the individual, ensuring a fast and appropriate care, with improvement of the morbidity and reduction of the mortality. This medical attention is equally associated with the significant risks of adverse events and serious mistakes, which can be reduced with the awareness of the professionals, organization and quality management. It is a descriptive, transversal research, of quantitative approach, with the objective of identifying the risks for the safety of the patient during the mobile pre-hospital care under the view of the nurses, in a city of the Brazilian Northeast. The sample was formed by 23 nurses. The inclusion criteria: to have at least two years of experience and accept to participate on the research. The data collection was done in two steps, first photo collection, through the adapted method of photographic analysis, and the second with the application of questionnaire, divide in two parts: socio-professional data and digital photo punctuation instrument of the patient s safety. The majority of the nurses had an average working time in the mobile pre-hospital care of six years and six months, in the age group of 38 to 53 years old (69,56%) and with Lato sensu specialization (73,91%), being (29,41%) emergency and (29,41%) in intensive care. The (74%) have the Advance Cardiac Life Support (ACLS) and (100%) have the Pre-Hospital Trauma Life Support (PHTLS); (91, 30%) know the thematic safety of the patient. On the pictures it was observed a bigger variability of the categories (risks) where 44% of variance emerged on the first picture of the research. The pictures 4 and 9 with the average below 5 were classified as very insecure, while pictures 7 and 3 with an average above 7, very secure. On the results of risks observed for the patient s safety in the mobile pre-hospital care five categories emerged: organization and packaging of the equipment and materials, routines and specificities in the mobile pre-hospital care, risks on the management of medications, for traumas and infections. Starting from the analysis of these risks, it was proposed ten steps for the safety in the mobile pre-hospital care: 1- Identify the patient; 2- Safety related to prevention of infection; 3- Safety in the management of medications; 4- Safety and standardization of the packaging of equipment and materials; 5- Attention to the specificities of the mobile pre-hospital care; 6- Incentive and value the participation of the patient and family; 7- Promote the communication with the central of regulation; 8- Prevention of traumas and falls; 9- Protect the skin from additional injuries; 10- Understand the benefit of all the equipment in the ambulance. The multiple risks and their emerged combinations on the research indicate a variety of actions to be developed and stimulated, like the use of steps for the patient s safety in the mobile pre-hospital care which contributes with the aid and management of risks, reduction of mistakes, disabilities and death

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A chemical process optimization and control is strongly correlated with the quantity of information can be obtained from the system. In biotechnological processes, where the transforming agent is a cell, many variables can interfere in the process, leading to changes in the microorganism metabolism and affecting the quantity and quality of final product. Therefore, the continuously monitoring of the variables that interfere in the bioprocess, is crucial to be able to act on certain variables of the system, keeping it under desirable operational conditions and control. In general, during a fermentation process, the analysis of important parameters such as substrate, product and cells concentration, is done off-line, requiring sampling, pretreatment and analytical procedures. Therefore, this steps require a significant run time and the use of high purity chemical reagents to be done. In order to implement a real time monitoring system for a benchtop bioreactor, these study was conducted in two steps: (i) The development of a software that presents a communication interface between bioreactor and computer based on data acquisition and process variables data recording, that are pH, temperature, dissolved oxygen, level, foam level, agitation frequency and the input setpoints of the operational parameters of the bioreactor control unit; (ii) The development of an analytical method using near-infrared spectroscopy (NIRS) in order to enable substrate, products and cells concentration monitoring during a fermentation process for ethanol production using the yeast Saccharomyces cerevisiae. Three fermentation runs were conducted (F1, F2 and F3) that were monitored by NIRS and subsequent sampling for analytical characterization. The data obtained were used for calibration and validation, where pre-treatments combined or not with smoothing filters were applied to spectrum data. The most satisfactory results were obtained when the calibration models were constructed from real samples of culture medium removed from the fermentation assays F1, F2 and F3, showing that the analytical method based on NIRS can be used as a fast and effective method to quantify cells, substrate and products concentration what enables the implementation of insitu real time monitoring of fermentation processes

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La dificultad que los alumnos encuentran en el aprendizaje de matemática viene siendo objeto de investigación por estudiosos en educación matemática, tanto en Brasil como en el exterior. El objetivo de este estudio consiste em investigar las dificuldades en el aprendizado sobre funciones matemáticas y la influencia de las concepciones alternativas a partir de los errores que los candidatos acerca de las cuestiones sobre funciones en la prueba objetiva de matemática del acceso a la universidad de los años de 2001 a 2008. Teniendo como cuestiones de estudio para alcanzar el objetivo propuesto: identificar la relevancia del tema funciones que son contemplados en las pruebas de acceso a la Universidad; asi como cuáles han sido los tipos de funciones más privilegiados y menos privilegiados; analizar si la contextualización de la pregunta y la presencia de elementos no textuales han influenciado en el aumento de tal dificultad; analizar si la representación semiótica agrega mayor exigencia a la pregunta; analizar respecto a la exigencia matemática de la pregunta; analizar lo que se refiere al desempeño de los candidatos para verificar cuál pregunta tuvo mejor desempeño y cuál el peor e identificar los errores más frecuentemente cometidos por los candidatos en esas pruebas. Las reflexiones de los estudiosos como: Radatz (1980), Cury (1994), Socas (1997), Borasi (1997), Franchi e Rincón (2004), Pochulu (2004) presentan las dificultades en el aprendizaje matemático, que aparecen a partir de los errores cometidos por los alumnos, quando estos errores reciben la influencia de las concepciones alternativas. El estudio que se presenta en esta disertación configura un análisis de los errores que los candidatos han cometido en las preguntas objetivas sobre el tema funciones de las pruebas de acceso a la Universidad de los años de 2001 a 2008, a partir de los relatorios de la Comissão Permanente do Vestibular COMPERVE/UFRN. Con la intención de alcanzar los objetivos propuestos para este estudio, fueran sido construidas categorías de análisis. Los resultados encontrados han sido: El tema funciones es el más frecuente entre los demás con (28,1%); el tipo de función priorizada durante esos años ha sido la función logarítmica con (24%); la contextualización de las preguntas exige una mayor comprensión por parte del candidato de lo que las situaciones directas; la caracterización semiótica posee elementos que estructuran esas preguntas que el educando debe saber asociar al texto; la exigencia matemática posibilitó analizar que el procedimiento medio ha sido el más requisitado; el desempeño de los candidatos ha sido en la mayoría bajo (50%); y los principales errores que ellos han cometido han sido de realizar traducciones incorrectas de las expresiones que aparecen en las situaciones-problema; utilizar todos los datos que aparezcan en el problema sin tomar en cuenta si el cálculo realizado responde a la pregunta solicitada; no interpretar coherentemente las informaciones del gráfico; decodificar incorrectamente los valores representados por literales en una recta numérica. Los resultados señalizan la necesidad de una revisión didáctico-metodológicas de la enseñanza de funciones a raíz de las cuales las dificultades en el aprendizaje se han presentado

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Through a careful examination of the relationship between Zoroastrianism and the Western tradition, and a detailed and critical reading of the writings of Nietzsche, this work aims at showing to what extent the character Zarathustra , his discourses and poetical-philosophical thoughts, and related passages from many distinct Nietzschean works, directly or undirectly reflect a philosophy that harvests contributions from the Zoroastrian tradition or its headways (in the Judeo-Greco-Christian tradition, and furthermore in the whole Western philosophical tradition). Supplied with this provisions, and with the interpretation cast upon them, Nietzschean philosophy questions the entire Western tradition of thought, and proposes its replacement by a new attitude towards life. This work also intends to show the way the Nietzschean Zarathustra was built up, in the writings of the German philosopher, together with the idea of making, out of the namesake character of the ancient Iranian prophet (Zarathushtra or Zoroaster, the founder of Zoroastrianism), the herald of that important text that intended to bring the German language to its highest perfection , clumping together, and leading to a prophetic-poetic climax consonant with the meaning of the Earth , Nietzsche s key ideas about the rectification of the most fatal of errors and about the death of God . An elaborate investigation has been pursued after the reasons and manners of the building up of Nietzsche s Zarathustra mirroring its Iranian namesake (sections 1.1 to 1.6), and a survey of the works of Nietzsche has suggested unquestionable relations with the Zoroastrian tradition, mostly through the Jewish, Greek or Christian repercussions of this tradition. These relations have been put in context, in many framings (sections 2.1 to 2.3.2), in the ambit of the most fatal of errors - the - creation of morals in the very occasion of its transposition to metaphysics (Ecce Homo, Why I am a destiny , 3). Through an evaluation of the possible circumstances and repercussions of the death of God , the relations between Nietzsche s writings and Zoroastrian tradition have been investigated (sections 3.1 to 3.7), allowing the understanding of this event as an essential component, and tragic outcome, of the rectification of the most fatal of errors

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The lost of phase relationship between rhythms and behaviour can, and often do, undesirable consequences. The purpose os study was to ascertain the effect of circadian desynchronization in T22 about metabolism of wistar rats. The subjects consisted of 24 animals separated in two groups: control (n=12) T24 with 8 weeks of aged and experimental group (n=12) T22, also with 8 weeks of aged. Both the groups were subject to register of locomotor actitivity, body temperature, body weight and food intake in all the experiment. And more, both the groups were subject to food deprivation, running in treadmill and forced swimming. The results show rhythm of locomotor activity and body temperature desynchronized. Dont exist diference in body weight between both the groups (T24 = 386,75±40,78g e T22 380,83±44,28g) . However, the food intake was different between the phases, light and dark, in intergroup and intragroup. The body temperature was not different in food deprivation. The same ocurred for running in treadmill and forced swimming. Since similar alterations occur in shift workers, it is proposed that the experimental paradigm presented in this manuscript is a useful model of shift work. That is, alterations in activity/rest cycles and consummatory behavior can affect the health of organism

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The use of analogies in high school is often useful for chemistry teaching, either on textbooks or by teachers in the classroom.This use is justified by the large number of abstract concepts that rules this course. Analogies are conceptualized by several authors, which converge on the idea that these are tools that seek a way to elucidate an unknown concept by comparing it to a familiar one, relating their similar and dissimilar features. An analysis on a survey of analogies found in high school chemistry textbooks and chemical equilibrium studies is performed in order to verify whether they are leading to misconceptions for their use by students and/or for their use by teachers in the classroom, or whether they promote a learning facilitation

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Conselho Nacional de Desenvolvimento Científico e Tecnológico - CNPq

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The study of chemical reactions is among the most important contents to the understanding of Chemistry discipline in basic education. However, there are still few studies about chemical reactions as a complex system because, generally, this content is presented in textbooks, taught and even researched in a fragmented form. The thesis here presented aims to investigate, identify and characterize the mistakes and learning difficulties of the students about chemical reactions as a complex system, using for that purpose the analysis of the answers of 126 exams of candidates for the bachelor’s degree in Chemistry Teaching on the entrance exam for the Federal University of Rio Grande do Norte (UFRN). The mistakes and learning difficulties about the parameters ΔG°, Kp, Ea and of the calculation of the amount of substance in a chemical reaction have been identified, as well as the levels of development of the ability to interpret the chemical reaction as a system. The main theoretical source of this study is structured based on the mistakes and learning difficulties (NÚÑEZ, RAMALHO, 2012), of the chemical reactions as complex systems (NÚÑEZ, 1994; RESHETOVA, 1988; SANDERSON, 1968). As methodology, it was prioritized the analysis of the answers to the exams and the interview with the teachers. The results showed typical mistakes in the study of this subject, especially low levels and skill development. No student was able to integrate the different aspects in the systemic understanding of the chemical reaction. From the interviews with Chemistry teachers from High School, it was determined the reasons the teachers assign to those mistakes and learning difficulties. The interviews revealed that the teachers do not work in the perspective of integration of the contents which leads the students to present difficulties and make mistakes related to the content previously mentioned. The study presents a proposal for the organization of the contents of Chemistry discipline for High School as a possibility of a dialectic systemic integration of contents, understanding that this systematic vision, leads to important contributions to the development of the theoretical thinking of the students. We can mention as one of the conclusions of this study, the fact that the non-systemic organization of contents do not favor this kind of thinking in students.