439 resultados para Esclerosis tuberosa


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BACKGROUND Human endogenous retroviruses (HERVs) are repetitive sequences derived from ancestral germ-line infections by exogenous retroviruses and different HERV families have been integrated in the genome. HERV-Fc1 in chromosome X has been previously associated with multiple sclerosis (MS) in Northern European populations. Additionally, HERV-Fc1 RNA levels of expression have been found increased in plasma of MS patients with active disease. Considering the North-South latitude gradient in MS prevalence, we aimed to evaluate the role of HERV-Fc1on MS risk in three independent Spanish cohorts. METHODS A single nucleotide polymorphism near HERV-Fc1, rs391745, was genotyped by Taqman chemistry in a total of 2473 MS patients and 3031 ethnically matched controls, consecutively recruited from: Northern (569 patients and 980 controls), Central (883 patients and 692 controls) and Southern (1021 patients and 1359 controls) Spain. Our results were pooled in a meta-analysis with previously published data. RESULTS Significant associations of the HERV-Fc1 polymorphism with MS were observed in two Spanish cohorts and the combined meta-analysis with previous data yielded a significant association [rs391745 C-allele carriers: pM-H = 0.0005; ORM-H (95% CI) = 1.27 (1.11-1.45)]. Concordantly to previous findings, when the analysis was restricted to relapsing remitting and secondary progressive MS samples, a slight enhancement in the strength of the association was observed [pM-H = 0.0003, ORM-H (95% CI) = 1.32 (1.14-1.53)]. CONCLUSION Association of the HERV-Fc1 polymorphism rs391745 with bout-onset MS susceptibility was confirmed in Southern European cohorts.

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BACKGROUND Multiple Sclerosis (MS) is an autoimmune demyelinating disease that occurs more frequently in women than in men. Multiple Sclerosis Associated Retrovirus (MSRV) is a member of HERV-W, a multicopy human endogenous retroviral family repeatedly implicated in MS pathogenesis. MSRV envelope protein is elevated in the serum of MS patients and induces inflammation and demyelination but, in spite of this pathogenic potential, its exact genomic origin and mechanism of generation are unknown. A possible link between the HERV-W copy on chromosome Xq22.3, that contains an almost complete open reading frame, and the gender differential prevalence in MS has been suggested. RESULTS MSRV transcription levels were higher in MS patients than in controls (U-Mann-Whitney; p = 0.004). Also, they were associated with the clinical forms (Spearman; p = 0.0003) and with the Multiple Sclerosis Severity Score (MSSS) (Spearman; p = 0.016). By mapping a 3 kb region in Xq22.3, including the HERV-W locus, we identified three polymorphisms: rs6622139 (T/C), rs6622140 (G/A) and rs1290413 (G/A). After genotyping 3127 individuals (1669 patients and 1458 controls) from two different Spanish cohorts, we found that in women rs6622139 T/C was associated with MS susceptibility: [χ2; p = 0.004; OR (95% CI) = 0.50 (0.31-0.81)] and severity, since CC women presented lower MSSS scores than CT (U-Mann-Whitney; p = 0.039) or TT patients (U-Mann-Whitney; p = 0.031). Concordantly with the susceptibility conferred in women, rs6622139*T was associated with higher MSRV expression (U-Mann-Whitney; p = 0.003). CONCLUSIONS Our present work supports the hypothesis of a direct involvement of HERV-W/MSRV in MS pathogenesis, identifying a genetic marker on chromosome X that could be one of the causes underlying the gender differences in MS.

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BACKGROUND A considerable percentage of multiple sclerosis patients have attentional impairment, but understanding its neurophysiological basis remains a challenge. The Attention Network Test allows 3 attentional networks to be studied. Previous behavioural studies using this test have shown that the alerting network is impaired in multiple sclerosis. The aim of this study was to identify neurophysiological indexes of the attention impairment in relapsing-remitting multiple sclerosis patients using this test. RESULTS After general slowing had been removed in patients group to isolate the effects of each condition, some behavioral differences between them were obtained. About Contingent Negative Variation, a statistically significant decrement were found in the amplitude for Central and Spatial Cue Conditions for patient group (p<0.05). ANOVAs showed for the patient group a significant latency delay for P1 and N1 components (p<0.05) and a decrease of P3 amplitude for congruent and incongruent stimuli (p<0.01). With regard to correlation analysis, PASAT-3s and SDMT showed significant correlations with behavioral measures of the Attention Network Test (p<0.01) and an ERP parameter (CNV amplitude). CONCLUSIONS Behavioral data are highly correlated with the neuropsychological scores and show that the alerting and orienting mechanisms in the patient group were impaired. Reduced amplitude for the Contingent Negative Variation in the patient group suggests that this component could be a physiological marker related to the alerting and orienting impairment in relapsing-remitting multiple sclerosis. P1 and N1 delayed latencies are evidence of the demyelination process that causes impairment in the first steps of the visual sensory processing. Lastly, P3 amplitude shows a general decrease for the pathological group probably indexing a more central impairment. These results suggest that the Attention Network Test give evidence of multiple levels of attention impairment, which could help in the assessment and treatment of relapsing-remitting multiple sclerosis patients.

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BACKGROUND Multiple sclerosis (MS) is a neurodegenerative, autoimmune disease of the central nervous system. Genome-wide association studies (GWAS) have identified over hundred polymorphisms with modest individual effects in MS susceptibility and they have confirmed the main individual effect of the Major Histocompatibility Complex. Additional risk loci with immunologically relevant genes were found significantly overrepresented. Nonetheless, it is accepted that most of the genetic architecture underlying susceptibility to the disease remains to be defined. Candidate association studies of the leukocyte immunoglobulin-like receptor LILRA3 gene in MS have been repeatedly reported with inconsistent results. OBJECTIVES In an attempt to shed some light on these controversial findings, a combined analysis was performed including the previously published datasets and three newly genotyped cohorts. Both wild-type and deleted LILRA3 alleles were discriminated in a single-tube PCR amplification and the resulting products were visualized by their different electrophoretic mobilities. RESULTS AND CONCLUSION Overall, this meta-analysis involved 3200 MS patients and 3069 matched healthy controls and it did not evidence significant association of the LILRA3 deletion [carriers of LILRA3 deletion: p = 0.25, OR (95% CI) = 1.07 (0.95-1.19)], even after stratification by gender and the HLA-DRB1*15:01 risk allele.

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OBJECTIVES We aimed to investigate potential associations between human leukocyte antigen (HLA) class I and class II alleles and the development of anaphylactic/anaphylactoid reactions in patients with multiple sclerosis (MS) treated with natalizumab. METHODS HLA class I and II genotyping was performed in patients with MS who experienced anaphylactic/anaphylactoid reactions and in patients who did not develop infusion-related allergic reactions following natalizumab administration. RESULTS A total of 119 patients with MS from 3 different cohorts were included in the study: 54 with natalizumab-related anaphylactic/anaphylactoid reactions and 65 without allergic reactions. HLA-DRB1*13 and HLA-DRB1*14 alleles were significantly increased in patients who developed anaphylactic/anaphylactoid reactions (p M-H = 3 × 10(-7); odds ratio [OR]M-H = 8.96, 95% confidence interval [CI] = 3.40-23.64), with a positive predictive value (PPV) of 82%. In contrast, the HLA-DRB1*15 allele was significantly more represented in patients who did not develop anaphylactic/anaphylactoid reactions to natalizumab (p M-H = 6 × 10(-4); ORM-H = 0.2, 95% CI = 0.08-0.50), with a PPV of 81%. CONCLUSIONS HLA-DRB1 genotyping before natalizumab treatment may help neurologists to identify patients with MS at risk for developing serious systemic hypersensitivity reactions associated with natalizumab administration.

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Influence of different tropical fruits on biological and behavioral aspects of the Mediterranean fruit fly Ceratitis capitata (Wiedemann) (Diptera, Tephritidae). Studies on Ceratitis capitata, a world fruit pest, can aid the implementation of control programs by determining the plants with higher vulnerability to attacks and plants able to sustain their population in areas of fly distribution. The objective of the present study was to evaluate the influence of eight tropical fruits on the following biological and behavioral parameters of C. capitata: emergence percentage, life cycle duration, adult size, egg production, longevity, fecundity, egg viability, and oviposition acceptance. The fruits tested were: acerola (Malpighia glabra L.), cashew (Anacardium occidentale L.), star fruit (Averrhoa carambola L.), guava (Psidium guajava L.), soursop (Annona muricata L.), yellow mombin (Spondias mombin L.), Malay apple (Syzygium malaccense L.), and umbu (Spondias tuberosa L.). The biological parameters were obtained by rearing the recently hatched larvae on each of the fruit kinds. Acceptance of fruits for oviposition experiment was assessed using no-choice tests, as couples were exposed to two pieces of the same fruit. The best performances were obtained with guava, soursop, and star fruit. Larvae reared on cashew and acerola fruits had regular performances. No adults emerged from yellow mombin, Malay apple, or umbu. Fruit species did not affect adult longevity, female fecundity, or egg viability. Guava, soursop, and acerola were preferred for oviposition, followed by star fruit, Malay apple, cashew, and yellow mombin. Oviposition did not occur on umbu. In general, fruits with better larval development were also more accepted for oviposition.

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Species of Gorybia Pascoe (Coleoptera, Cerambycidae, Piezocerini) occurring in Bolivia. The genus Gorybia (Cerambycinae, Piezocerini) consists of 45 described species with seven species recorded from Bolivia. Nine new species are described herein from Bolivia: G. abnormalis sp. nov.; G. alveolata sp. nov.; G. asyka sp. nov.; G. florida sp. nov.; G. inarmata sp. nov.; G. longithorax sp. nov.; G. guenda sp. nov.; G. tuberosa sp. nov. and G. wappesi sp. nov. A key to the species now known to occur in Bolivia is included.

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Studies from some semi-arid regions of the world have shown the beneficial effect of trees in silvopastoral systems, by promoting the formation of resource islands and increasing the sustainability of the system. No data are available in this respect for tree species of common occurrence in semi-arid Northeastern Brazil. In the present study, conducted in the summer of 1996, three tree species (Zyziphus joazeiro, Spondias tuberosa and Prosopis juliflora: ) found within Cenchrus ciliaris pastures were selected to evaluate differences on herbaceous understory and soil chemical characteristics between samples taken under the tree canopy and in open grass areas. Transects extending from the tree trunk to open grass areas were established, and soil (0-15 cm) and herbaceous understory (standing live biomass in 1 m² plots) samples were taken at 0, 25, 50, 100, 150 and 200% of the average canopy radius (average radius was 6.6 ± 0.5, 4.5 ± 0.5, and 5.3 ± 0.8 m for Z. joazeiro, P. juliflora, and S. tuberosa , respectively). Higher levels of soil C, N, P, Ca, Mg, K, and Na were found under the canopies of Z. joazeiro and P. juliflora: trees, as compared to open grass areas. Only soil Mg organic P were higher under the canopies of S. tuberosa trees, as compared to open grass areas. Herbaceous understory biomass was significantly lower under the canopy of S. tuberosa and P. juliflora trees (107 and 96 g m-2, respectively) relatively to open grass areas (145 and 194 g m-2). No herbaceous biomass differences were found between Z. joazeiro canopies and open grass areas (107 and 87 g m-2, respectively). Among the three tree species studied, Z. joazeiro was the one that presented the greatest potential for use in a silvopastoral system at the study site, since it had a larger nutrient stock in the soil without negatively affecting herbaceous understory biomass, relatively to open grass areas.

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Hoy en día la apariencia física juega un papel muy importante en nuestra sociedad, siendo considerado por muchos como un instrumento básico para alcanzar el éxito social y laboral. Sin embargo, el concepto de imagen corporal, a veces confundido con el de apariencia física, es un término que significa el sentimiento que cada persona tiene en relación a su propio cuerpo. Por ello, cualquier alteración en esta imagen influye en la autoestima de las personas comportando un gran impacto psicológico y emocional y colocando a la persona en una situación de crisis con una alta vulnerabilidad psicológica. Entre las diversas causas que pueden ocasionar dicha alteración, destacan la cirugía, las incapacidades y un amplio abanico de enfermedades degenerativas. Si bien todas tienen su importancia, en el siguiente trabajo se han querido destacar aquellas enfermedades consideradas como “raras” debido a su baja prevalencia y por tanto, con gran desconocimiento por parte de la sociedad. Además, otra de las características de estas enfermedades es que más que alterar el aspecto físico, lo que se produce es una separación entre el cuerpo y la mente, provocando sentimientos de gran incertidumbre debido al desconocimiento acerca de cuál será el siguiente aspecto de su vida que se verá cambiado debido a su enfermedad. De todas ellas, es la esclerosis lateral amiotrófica o ELA la escogida como motivo principal de estudio; es una enfermedad neurodegenerativa minoritaria, poco conocida, de causa desconocida y que actualmente no tiene cura por lo que genera a los pacientes y a las familias sentimientos de soledad, desamparo y exclusión social y económica. La enfermedad evoluciona rápidamente provocando parálisis generalizada y afectando por tanto, a la movilidad, al habla, la deglución, la respiración y al grado de dependencia; por lo tanto, el paciente necesitará un cuidador las 24 horas del día. Por el contrario, los sentidos y la capacidad cognitiva no se ven afectados de modo que el paciente es consciente en todo momento de la evolución de su enfermedad y de la pérdida progresiva de sus funciones.

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Com o objetivo de avaliar a influência da adição de Ni na solução nutritiva de Hoagland & Arnon sobre o crescimento e a nutrição mineral de mudas de umbuzeiro, realizou-se este trabalho. O delineamento experimental utilizado foi o inteiramente casualizado, com quatro repetições e seis doses de Ni (0; 0,0005; 0,05; 0,1; 0,5 e 1,0 mmol L-1). Observou-se que o Ni, em pequenas concentrações, estimula o crescimento de mudas de umbuzeiro em solução nutritiva; para o cultivo destas em solução nutritiva de Hoagland & Arnon, recomenda-se a adição de 0,03 mmol L-1 de Ni.

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Se presenta el tratamiento nomenclatural del genero Cuphea (Lythraceae) en el Paraguay, que reúne el nombre correcto para las 28 especies reconocidas y su correspondiente sinonimia. Para la mayoría de taxones que se mencionan en el texto se ha revisado su tipificación. Se tipifican por primera vez el subgénero Lytrocuphea Koehne y las secciones Brachyandra Koehne y Enatiocuphea Koehne y se lectotipifican C. tuberosa Cham. & Schltdl., C. inaequalifolia Koehne. C. punctulata Koehne, además de varios sinónimos. Se proponen las siguientes combinaciones nomenclaturales: C. corisperma subsp. hexasperma (Koehne) Duré & Molero. C. racemosa subsp. longiflora (Koehne) Duré & Molero y C. racemosa var. ramosior (Koehne ) Duré & Molero. Desde el punto de vista corológico se citan por primera vez para el Paraguay C. micrahtha Humb., Bonpl. & Kunth. Cuphea rusbyi Lourteig y C. sessilifoila Mart. Se incluyen también algunos comentarios taxonómicos sobre táxones críticos como C. corisperma Koehne, C. hassleri Koehne y C. racemosa (L. f.) Sprengel , entre otros.

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Las obturaciones dentales de amalgama constituyen la fuente principal de exposición permanente de bajo nivel al vapor de mercurio (Hg°) y al mercurio inorgánico (Hg(II)) para la población general. La dosis de mercurio absorbido procedente de la amalgama es de 2.7 ¿g/día/persona para una cantidad promedio de 7.4 obturaciones. Si esta cantidad consistiera enteramente en mercurio inorgánico (Hg(II)), estaría muy por debajo de la cifra de 15 ¿g/día para una persona de 65 kg que la OMS considera como ingesta tolerable de mercurio inorgánico. En el caso de una exposición permanente a la misma cantidad, pero de vapor de mercurio (Hg0), se obtendría una concentración de 0.18 mg/m3 que puede compararse con la concentración de referencia de la EPA de 0.3 mg/m3 o con el nivel de riesgo mínimo de la ATSDR de 0.2 mg/m3. Varios estudios clínicos longitudinales y aleatorizados han evaluado la relación entre la concentración urinaria de mercurio y la exposición al mercurio procedente de las obturaciones dentales de amalgama en niños, particularmente vulnerables al Hg0, así como los posibles efectos neurológicos de tal exposición. La concentración promedio de mercurio en orina en los niños tratados con amalgama, con un promedio de 18,7 superficies obturadas, aumentó hasta un pico de 3.2 ¿g/L a los 2 años de iniciado el tratamiento y a los 7 años de seguimiento había descendido hasta los niveles basales y no se detectó ninguna alteración en las distintas exploraciones de monitorización neuropsicológica. De la misma manera, diversas investigaciones epidemiológicas no han aportado ninguna evidencia del papel de la amalgama en la posible causa o exacerbación de trastornos degenerativos como la esclerosis lateral amiotrófica, la enfermedad de Alzheimer, la esclerosis múltiple o el Parkinson. La extracción de las obturaciones de amalgama produce un aumento transitorio de los niveles de mercurio en sangre inmediatamente después de extraer las obturaciones de amalgama, pero de pequeña magnitud y que se normaliza a los 100 días, por lo que el efecto del dique de goma tiene una relevancia toxicológica menor. La conclusión de esta revisión es que la amalgama dental continúa siendo un excelente material de obturación.

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O objetivo deste trabalho foi avaliar o crescimento e os sintomas visuais de deficiência de macronutrientes em mudas de umbuzeiro, Spondias tuberosa, cultivadas em solução nutritiva completa e com omissão individual de N, P, K, Ca, Mg e S. As ausências de Ca, N, Mg e K provocaram redução do crescimento das mudas. A omissão de macronutrientes provocou alterações morfológicas características da deficiência nutricional. Observa-se maior exigência em N, K, Ca e Mg na fase inicial de crescimento e a redução na massa de matéria seca total segue a ordem: Ca > N > K > Mg > S > P.

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O objetivo deste trabalho foi avaliar formulações de doces, em massa de umbu verde e maduro, quanto às características físico-químicas e físicas, e quanto à aceitação pelos consumidores residentes no Rio de Janeiro. Quatro formulações de doces foram processadas para polpa de umbu verde: F1, 0,3% de goma xantana; F2, 5% de xarope de glicose e 0,3% de goma xantana; F3, 0,5% de amido modificado; F4, 5% de xarope de glicose e 0,5% de amido modificado; e quatro formulações para polpa de umbu maduro: F1, apenas correção de pH; F2, 0,5% de pectina; F3, 0,3% de goma xantana; F4, 5% de xarope de glicose e 0,5% de amido modificado. Foram avaliadas as seguintes características físico-químicas e físicas: sólidos solúveis, acidez titulável, pH, açúcares redutores e não redutores, atividade de água, cor, firmeza e adesividade. Cinqüenta e seis consumidores avaliaram as formulações, por meio de escala hedônica estruturada de nove pontos. As formulações F2 apresentaram maior firmeza. Os consumidores atribuíram notas superiores a seis na escala utilizada, para todas as formulações, o que indica aceitação dos produtos.

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O objetivo deste trabalho foi avaliar a distribuição da variabilidade genética do umbuzeiro (Spondias tuberosa), no Semi-Árido brasileiro, por meio de marcadores AFLP, para subsidiar estratégias de prospecção e conservação da espécie. Foram analisados 68 indivíduos de umbuzeiro de 15 ecorregiões, pelo dendrograma UPGMA e pela dispersão em escala multidimensional (MDS), com o coeficiente de Jaccard de 141 bandas polimórficas de AFLP. A análise da variância molecular foi realizada pela decomposição total entre e dentro das regiões ecogeográficas. O dendrograma apresentou valor cofenético de 0,96, e o gráfico MDS apresentou 0,25 para a falta de ajustamento. A variabilidade genética do umbuzeiro foi estimada em 0,3138, o que indica grande variação entre os grupos de indivíduos. Agrupamentos específicos foram observados em seis regiões ecogeográficas, enquanto nas demais regiões observaram-se pares entre alguns indivíduos, sem formação de agrupamentos específicos por local de amostragem, o que indica que a variabilidade genética do umbuzeironão está uniformemente distribuída no Semi-Árido. Sugerem-se estratégias para o estabelecimento de maior número de áreas para conservação in situ ou amostragens de menor número de indivíduos, em várias unidades de paisagens, para conservação ex situ da variabilidade genética do umbuzeiro.