908 resultados para X-linked Mental Retardation
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Universidade Estadual de Campinas . Faculdade de Educação Física
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Universidade Estadual de Campinas. Faculdade de Educação Física
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Background : In tropical countries, losses caused by bovine tick Rhipicephalus (Boophilus) microplus infestation have a tremendous economic impact on cattle production systems. Genetic variation between Bos taurus and Bos indicus to tick resistance and molecular biology tools might allow for the identification of molecular markers linked to resistance traits that could be used as an auxiliary tool in selection programs. The objective of this work was to identify QTL associated with tick resistance/susceptibility in a bovine F2 population derived from the Gyr (Bos indicus) x Holstein (Bos taurus) cross. Results: Through a whole genome scan with microsatellite markers, we were able to map six genomic regions associated with bovine tick resistance. For most QTL, we have found that depending on the tick evaluation season (dry and rainy) different sets of genes could be involved in the resistance mechanism. We identified dry season specific QTL on BTA 2 and 10, rainy season specific QTL on BTA 5, 11 and 27. We also found a highly significant genome wide QTL for both dry and rainy seasons in the central region of BTA 23. Conclusions: The experimental F2 population derived from Gyr x Holstein cross successfully allowed the identification of six highly significant QTL associated with tick resistance in cattle. QTL located on BTA 23 might be related with the bovine histocompatibility complex. Further investigation of these QTL will help to isolate candidate genes involved with tick resistance in cattle.
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Strawberries represent the main source of ellagic acid derivatives in the Brazilian diet, corresponding to more than 50% of all phenolic compounds found in the fruit. There is a particular interest in the determination of the ellagic acid content in fruits because of possible chemopreventive benefits. In the present study, the potential health benefits of purified ellagitannins from strawberries were evaluated in relation to the antiproliferative activity and in vitro inhibition of alpha-amylase, alpha-glucosidase, and angiotensin I-converting enzyme (ACE) relevant for potential management of hyperglycemia and hypertension. Therefore, a comparison among ellagic acid, purified ellagitannins, and a strawberry extract was done to evaluate the possible synergistic effects of phenolics. In relation to the antiproliferative activity, it was observed that ellagic acid had the highest percentage inhibition of cell proliferation. The strawberry extract had lower efficacy in inhibiting the cell proliferation, indicating that in the case of this fruit there is no synergism. Purified ellagitannins had high alpha-amylase and ACE inhibitory activities. However, these compounds had low alpha-glucosidase inhibitory activity. These results suggested that the ellagitannins and ellagic acid have good potential for the management of hyperglycemia and hypertension linked to type 2 diabetes. However, further studies with animal and human models are needed to advance the in vitro assay-based biochemical rationale from this study.
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The effect of thermal treatment on phenolic compounds and type 2 diabetes functionality linked to alpha-glucosidase and alpha-amylase inhibition and hypertension relevant angiotensin I-converting enzyme (ACE) inhibition were investigated in selected bean (Phaseolus vulgaris L,) cultivars from Peru and Brazil using in vitro models. Thermal processing by autoclaving decreased the total phenolic content in all cultivars, whereas the 1,1-diphenyl-2-picrylhydrazyl radical scavenging activity-linked antioxidant activity increased among Peruvian cultivars, alpha-Amylase and alpha-glucosidase inhibitory activities were reduced significantly after heat treatment (73-94% and 8-52%, respectively), whereas ACE inhibitory activity was enhanced (9-15%). Specific phenolic acids such as chlorogenic and caffeic acid increased moderately following thermal treatment (2-16% and 5-35%, respectively). No correlation was found between phenolic contents and functionality associated to antidiabetes and antihypertension potential, indicating that non phenolic compounds may be involved. Thermally processed bean cultivars are interesting sources of phenolic acids linked to high antioxidant activity and show potential for hypertension prevention.
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Few marine hybrid zones have been studied extensively, the major exception being the hybrid zone between the mussels Mytilus edulis and M. galloprovincialis in southwestern Europe. Here, we focus on two less studied hybrid zones that also involve Mytilus spp.; M. edulis and M. trossulus are sympatric and hybridize on both western and eastern coasts of the Atlantic Ocean. We review the dynamics of hybridization in these two hybrid zones and evaluate the role of local adaptation for maintaining species boundaries. In Scandinavia, hybridization and gene introgression is so extensive that no individuals with pure M. trossulus genotypes have been found. However, M. trossulus alleles are maintained at high frequencies in the extremely low salinity Baltic Sea for some allozyme genes. A synthesis of reciprocal transplantation experiments between different salinity regimes shows that unlinked Gpi and Pgm alleles change frequency following transplantation, such that post-transplantation allelic composition resembles native populations found in the same salinity. These experiments provide strong evidence for salinity adaptation at Gpi and Pgm (or genes linked to them). In the Canadian Maritimes, pure M. edulis and M. trossulus individuals are abundant, and limited data suggest that M. edulis predominates in low salinity and sheltered conditions, whereas M. trossulus are more abundant on the wave-exposed open coasts. We suggest that these conflicting patterns of species segregation are, in part, caused by local adaptation of Scandinavian M. trossulus to the extremely low salinity Baltic Sea environment.
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Plant performance is, at least partly, linked to the location of roots with respect to soil structure features and the micro-environment surrounding roots. Measurements of root distributions from intact samples, using optical microscopy and field tracings have been partially successful but are imprecise and labour-intensive. Theoretically, X-ray computed micro-tomography represents an ideal solution for non-invasive imaging of plant roots and soil structure. However, before it becomes fast enough and affordable or easily accessible, there is still a need for a diagnostic tool to investigate root/soil interplay. Here, a method for detection of undisturbed plant roots and their immediate physical environment is presented. X-ray absorption and phase contrast imaging are combined to produce projection images of soil sections from which root distributions and soil structure can be analyzed. The clarity of roots on the X-ray film is sufficient to allow manual tracing on an acetate sheet fixed over the film. In its current version, the method suffers limitations mainly related to (i) the degree of subjectivity associated with manual tracing and (ii) the difficulty of separating live and dead roots. The method represents a simple and relatively inexpensive way to detect and quantify roots from intact samples and has scope for further improvements. In this paper, the main steps of the method, sampling, image acquisition and image processing are documented. The potential use of the method in an agronomic perspective is illustrated using surface and sub-surface soil samples from a controlled wheat trial. Quantitative characterization of root attributes, e.g. radius, length density, branching intensity and the complex interplay between roots and soil structure, is presented and discussed.
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Crack cocaine-dependent individuals (CCDI) present abnormalities in both social adjustment and decision making, but few studies have examined this association. This study investigated cognitive and social performance of 30 subjects (CCDI x controls); CCDI were abstinent for 2 weeks. We used the Social Adjustment Scale (SAS), Wisconsin Card Sorting Test (WCST), and Iowa Gambling Task (IGT). Disadvantageous choices on the IGT were associated with higher levels of social dysfunction in CCDI, suggesting the ecological validity of the IGT. Social dysfunction and decision making may be linked to the same underlying prefrontal dysfunction, but the nature of this association should be further investigated. (Am J Addict 2010;00: 1-9).
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Introduction. Sexual satisfaction is linked to life satisfaction, and erectile dysfunction (ED) may lead to an impaired quality of life (QOL). Aim. Our goal was to evaluate the QOL among Brazilian patients with ED, before and after three kinds of treatment. Methods. Men aged 25-55 years, with a diagnosis of psychogenic or mixed ED, according to the Classification of Mental and Behavioral Disorders of the International Classification of Diseases, 10th edition, and the Standard Practice in Sexual Medicine, were randomly assigned to three treatment groups: counseling, sildenafil, and sildenafil plus counseling. At baseline each group had 40 patients. Sildenafil was provided in 50 mg that could be adjusted to 100 mg. The patients could initially take one to two tablets per week and the entire treatment lasted for 3 months. Counseling was provided in group sessions that took place once a week. They were evaluated at baseline and after 3 months of treatment with the Male Sexual Quotient (MSQ) and the Sexual Health Inventory for Men (SHIM). Main Outcome Measures. The correlation between the patients` MSQ score and scores on the SHIM. Results. One hundred seventeen patients were enrolled. The three groups were similar according to age, marital status, mean time of ED, and ED severity and etiology. At baseline, MSQ and SHIM total scores were not different among the three groups. MSQ scores increased from 41.2 +/- 15.3, 38.7 +/- 18.0, and 46.8 +/- 17.0 to 48.5 +/- 15.3, 63.8 +/- 21.6, and 70.0 +/- 17.3 after counseling, sildenafil, and sildenafil plus counseling, respectively (P < 0.05). SHIM scores also increased significantly (9.6 +/- 4.1, 9.7 +/- 4.1, and 10.2 +/- 3.9 to 12.1 +/- 3.9, 16.7 +/- 5.6, and 17.7 +/- 4.5 after counseling, sildenafil, and sildenafil plus counseling, respectively) (P < 0.05). There were no serious adverse events related to sildenafil, and no patient was withdrawn from the study because of an adverse event. Conclusions. The three treatments were significantly efficient, and the best treatment was sildenafil associated with counseling.
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Variations in jaw bone neurovascularisation must be identified to decrease the potential risk for haemorrhages and neural disturbances during surgical procedures such as implant placement and orthognatic surgeries. The aim of this study is to characterise additional mental foramina (AMF) through cone beam computed tomography (CBCT) images, by describing their frequency, size, location and direction of their associated bony canals, as well as to assess their corresponding ipsilateral and contralateral mental foramina (MF). CBCT images from 285 patients were analysed. Prevalence of AMF was 9.4%. From 0 to 2 AMF were observed, with two bilateral cases. Two cases of unilateral absence of MF were registered. Patients presenting AMF did not differ significantly from those without AMF regarding gender, age or ethnicity. Diameters of AMF and their corresponding ipsilateral and contralateral MF were 1.9 mm (+/- 0.7 mm), 3.8 mm (+/- 0.6 mm) and 4.1 mm (+/- 0.6 mm), respectively. Ratios between diameters of AMF and corresponding ipsilateral MF ranged between 0.24 and 0.99. Location of AMF was variable, with most cases located posteriorly, posterior-inferiorly, posterior-superiorly or anterior-superiorly to their respective MF. Significant anatomical variability regarding neurovascularisation was observed among patients and CBCT examinations presented as a valuable tool for individually assessing these anatomical features.
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The tendency to dizygotic (DZ) twinning is inherited in both humans and sheep, and a fecundity gene in sheep (FecB) maps to sheep chromosome 6, syntenic with human 4q21-25. Our aim was to see whether a gene predisposing to human DZ twinning mapped to this region. DNA was collected from 169 pairs and 17 sets of 3 sisters (trios) from Australia and New Zealand who had each had spontaneous DZ twins, mostly before the age of 35, and from a replication sample of 111 families (92 affected sister pairs) from The Netherlands. Exclusion mapping was carried out after typing 26 markers on chromosome 4, of which 8 spanned the region Likely to contain the human homologue of the sheep FecB gene. We used nonparametric affected sib pair methods for linkage analysis [ASPEX 2.2, Hinds and Risch, 1999]. Complete exclusion of linkage (lod < -2) of a gene conferring a relative risk for sibs as low as 1.5 ((s) > 1.5) was obtained for all but the p terminus region on chromosome 4. Exclusion in the syntenic region was stronger, down to lambda (s) = 1.3. We concluded that if there is a gene influencing DZ twinning on chromosome 4, its effect must be minor. (C) 2001 Wiley-Liss, Inc.
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Novel alternating copolymers comprising biscalix[4]arene-p-phenylene ethynylene and m-phenylene ethynylene units (CALIX-m-PPE) were synthesized using the Sonogashira-Hagihara cross-coupling polymerization. Good isolated yields (60-80%) were achieved for the polymers that show M-n ranging from 1.4 x 10(4) to 5.1 x 10(4) gmol(-1) (gel permeation chromatography analysis), depending on specific polymerization conditions. The structural analysis of CALIX-m-PPE was performed by H-1, C-13, C-13-H-1 heteronuclear single quantum correlation (HSQC), C-13-H-1 heteronuclear multiple bond correlation (HMBC), correlation spectroscopy (COSY), and nuclear overhauser effect spectroscopy (NOESY) in addition to Fourier transform-Infrared spectroscopy and microanalysis allowing its full characterization. Depending on the reaction setup, variable amounts (16-45%) of diyne units were found in polymers although their photophysical properties are essentially the same. It is demonstrated that CALIX-m-PPE does not form ground-or excited-state interchain interactions owing to the highly crowded environment of the main-chain imparted by both calix[4]arene side units which behave as insulators inhibiting main-chain pi-pi staking. It was also found that the luminescent properties of CALIX-m-PPE are markedly different from those of an all-p-linked phenylene ethynylene copolymer (CALIX-p-PPE) previously reported. The unexpected appearance of a low-energy emission band at 426 nm, in addition to the locally excited-state emission (365 nm), together with a quite low fluorescence quantum yield (Phi = 0.02) and a double-exponential decay dynamics led to the formulation of an intramolecular exciplex as the new emissive species.
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El problema que enfrenta la institucionalidad estatal argentina es que existe un serio déficit de información no solamente en el momento de evaluar un resultado, sino ya al momento de diseñar la política. Las estadísticas oficiales de hechos vitales, salud y educación son difundidas en el mejor de los casos con un año de atraso. La información de indicadores de salud por su nivel de desagregación no permite conocer las realidades locales. Es posible constatar la falta de información sobre las medidas tomadas para asegurar el cumplimiento de las obligaciones del Estado en lo relativo a políticas y programas de salud mental. Del mismo modo que los organismos internacionales determinan los deficits de los sistemas de atención a la salud mental a través de las brechas de tratamiento y aun cuando no se dispone de estimaciones precisas se habla de brechas de información, que expresarían la distancia entre la información necesaria y la efectivamente disponible (OPS, 2009). Desde el mes de diciembre de 2007 se conforma la Mesa de Trabajo Permanente en Salud Mental y Derechos Humanos, con el objeto de instalar en agenda la necesidad de contar con una legislación que brinde el marco normativo para la transformación del sector. En los meses de octubre y noviembre de 2010 se aprobaron sendas leyes de salud mental en la Provincia de Córdoba y a nivel nacional. Ambas proponen la transformación progresiva en los sistemas de atención a los problemas de salud mental de la población. Desde la Mesa de Trabajo Permanente en Salud Mental y Derechos Humanos se afirma que la legislación es un marco necesario pero no suficiente, en tanto se constata que las princiales violaciones a los derechos humanos se producen en situaciones concretas. El presente proyecto nace de la necesidad de contar con un sistema de información que permita conocer la transformación de los servicios de salud mental en la provincia de Córdoba a partir de la sanción de la ley 9848 de Salud Mental en el mes de octubre de 2010. Una vez logrado este objetivo legislativo, se pretende monitorear la gestión con la formulación de los siguientes interrogantes: ¿a través de qué indicadores medir, evaluar y monitorear si la producción de los servicios de salud mental se lleva adelante desde la perspectiva del enfoque de derechos sancionada en el marco normativo vigente?; ¿cuáles son los indicadores que desde dicha perspectiva los organismos estatales de producción de servicios deben elaborar para el compromiso de acción y la rendición de cuentas frente a la ciudadanía? ¿cuáles son los indicadores que la ciudadanía debe reclamar a los fines de monitorear el cumplimiento de dichos compromisos? La puesta en marcha del Observatorio de Salud Mental y Derechos Humanos permitirá analizar las políticas y programas de salud mental desde la perspectiva de los derechos humanos y avanzar en el monitoreo de la producción de los servicios de salud mental. Objetivo General: analizar y hacer visible el cumplimiento de los objetivos sancionados en la ley 9848 de Salud Mental a través de la observación, el monitoreo y la incidencia en las políticas de salud mental de la provincia de Córdoba. Metodología: la construcción de indicadores de derechos humanos para la salud mental. El Observatorio de Salud Mental y Derechos Humanos pretende dar cuenta de las transformaciones que van a ocurrir a partir de la sanción de la ley 9848. Los resultados esperados están ligados a la producción y difusión de información sistematizada sobre las transformaciones en salud mental, a la vigilancia y el análisis del efecto/impacto de las políticas e incidir en las decisiones. El Observatorio pretende reconocer e integrar la información disponible y proponer indicadores que den cuenta de la situación inicial al momento de la implementación de los marcos normativos y permitir el monitoreo de las transformaciones emergentes. This project stems from the need for an information system designed to show the transformation of mental health services in the province of Cordoba after the enactment of the Mental Health Act 9848 in October 2010. Once achieved this legislative objective is to monitor the management with the formulation of the following questions: through which indicators to measure, evaluate and monitor whether the production of mental health services are carried forward from the perspective of rights-based approach enacted in two laws?, What are the indicators from that perspective the production agencies should develop services for the commitment to action and accountability to the public? What are the indicators that the public should demand that the purpose of monitoring compliance with these commitments? The launch of the Centre for Mental Health and Human Rights will review the policies and mental health programs from the perspective of human rights and progress in monitoring the production of mental health services. General Objective: to analyze and highlight the achievement of the objectives sanctioned by the Mental Health Act 9848 through the observation, monitoring and impact on mental health policy in the province of Cordoba. Methodology: building human rights indicators for mental health Mental Observatory Health and Human Rights aims to account for the changes that will occur after the enactment of Law 9848. The expected results are linked to production and dissemination of systematic information about changes in mental health, surveillance and analysis of the effect / impact and influence policy decisions. The Centre aims to recognize and integrate the available information and propose indicators that account for the initial situation at the time of implementation of regulatory frameworks and allow monitoring of change emerging.