963 resultados para Diseases in Twins


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Autism spectrum disorders are severe psychiatric diseases commonly identified in the population. They are diagnosed during childhood and the etiology has been much debated due to their variations and complexity. Onset is early and characterized as communication and social interaction disorders and as repetitive and stereotyped behavior. Austistic disorders may occur together with various genetic and chromosomal diseases. Several chromosomal regions and genes are implicated in the predisposition for these diseases, in particular those with products expressed in the central nervous system. There are reports of autistic and mentally handicapped patients with submicroscopic subtelomeric alterations at the distal end of the long arm of chromosome 2. Additionally, there is evidence that alterations at 2q37 cause brain malformations that result in the autistic phenotype. These alterations are very small and not identified by routine cytogenetics to which patients are normally submitted, which may result in an underestimation of the diagnosis. This study aimed at evaluating the 2q37 region in patients with autistic disorders. Twenty patients were studied utilizing the fluorescence in situ hybridization technique with a specific probe for 2q37. All of them were also studied by the GTC banding technique to identify possible chromosomal diseases. No alterations were observed in the 2q37 region of the individuals studied, and no patient presented chromosomal diseases. This result may be due to the small sample size analyzed. The introduction of routine analysis of the 2q37 region for patients with autistic disorders depends on further studies. ©FUNPEC-RP.

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The present study focuses on potential agents of chromoblastomycosis and other endemic diseases in the state of Paraná, Southern Brazil. Using a highly selective protocol for chaetothyrialean black yeasts and relatives, environmental samples from the living area of symptomatic patients were analysed. Additional strains were isolated from creosote-treated wood and hydrocarbon-polluted environments, as such polluted sites have been supposed to enhance black yeast prevalence. Isolates showed morphologies compatible with the traditional etiological agents of chromoblastomycosis, e.g. Fonsecaea pedrosoi and Phialophora verrucosa, and of agents of subcutaneous or systemic infections like Cladophialophora bantiana and Exophiala jeanselmei. Some agents of mild disease were indeed encountered. However, molecular analysis proved that most environmental strains differed from known etiologic agents of pronounced disease syndromes: they belonged to the same order, but mostly were undescribed species. Agents of chromoblastomycosis and systemic disease thus far are prevalent on the human host. The hydrocarbon-polluted environments yielded yet another spectrum of chaetothyrialean fungi. These observations are of great relevance because they allow us to distinguish between categories of opportunists, indicating possible differences in pathogenicity and virulence.

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Objectives. To assess the impact of chronic disease and the number of diseases on the various aspects of health-related quality of life (HROOL) among the elderly in Såo Paulo, Brazil. Methods. The SF-36® Health Survey was used to assess the impact of the most prevalent chronic diseases on HRQOL. A cross-sectional and population-based study was carried out with two-stage stratified cluster sampling. Data were obtained from a multicenter health survey administered through household interviews in several municipalities in the state of São Paulo. The study evaluated seven diseases - arthritis, back-pain, depression/anxiety, diabetes, hypertension, osteoporosis, and stroke - and their effects on quality of life. Results. Among the 1 958 elderly individuals (60 years of age or older), 13.6% reported not having any of the illnesses, whereas 45.7% presented three or more chronic conditions. The presence of any of the seven chronic illnesses studied had a significant effect on the scores of nearly all the SF-36® scales. HROOL achieved lower scores when related to depression/ anxiety, osteoporosis, and stroke. The higher the number of diseases, the greater the negative effect on the SF-36® dimensions. The presence of three or more diseases significantly affected HROOL in all areas. The bodily pain, general health, and vitality scales were the most affected by diseases. Conclusions. The study detected a high prevalence of chronic diseases among the elderly population and found that the degree of impact on HROOL depends on the type of disease. The results highlight the importance of preventing and controlling chronic diseases in order to reduce the number of comorbidities and lessen their impact on HROOL among the elderly.

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Sickle Cell Disease (SCD) is one of the most prevalent hematological diseases in the world. Despite the immense progress in molecular knowledge about SCD in last years few therapeutical sources are currently available. Nowadays the treatment is performed mainly with drugs such as hydroxyurea or other fetal hemoglobin inducers and chelating agents. This review summarizes current knowledge about the treatment and the advancements in drug design in order to discover more effective and safe drugs. Patient monitoring methods in SCD are also discussed. © 2011 Bentham Science Publishers Ltd.

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A total of 24 extracts from 14 plant species collected at the state of Minas Gerais, Brazil, and belonging to five botanical families (Annonaceae, Apocynaceae, Ochnaceae, Polygonaceae and Vitaceae) was screened for cytotoxicity in cultured Vero cells and for antiviral activity against human herpes virus type 1 (HSV-1), vaccinia virus (VACV) and murine encephalomyocarditis virus (EMCV). The highest cytotoxicity (CC 50 < 10 μg/mL) was observed for the ethanol extracts from Annona coriacea fruits and seeds. Extracts from Hancornia speciosa, Ouratea castaneafolia and O. semisrrata were the only ones that have shown activity against all the three viruses assayed. Extracts from Polygonum spectabile, Hancornia speciosa, Himatanthus phagedaenica, Ouratea spectabilis and O. semiserrata were the most active against HSV-1 (EC 50 < 50 mg/mL), with favorable SI values (8.0 to 10.0). Hancornia speciosa and Anaxagorea dolichocarpa were the most active against EMCV (EC 50 50 - 100 μg/mL), with reasonable SI values (5.2 to 6.1), while moderate to low activity (EC 50 > 100 μg/mL) was observed for Ouratea spectabilis and O. semiserrata. A total of 7 plant species, Ouratea semiserrata, O. spectabilis, O. castanaeafolia, Rollinia laurifolia, Cissus erosa, Polygonum spectabile, and Hancornia speciosa, were active against VACV, disclosing EC50 < 50 μg/mL and SI values ranging from 6.6 to 67.3. In total, 10 out of the 14 species were selected from a literature survey on plants used to treat viral diseases in Brazil; these species were responsible for 70% of the positive results.

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Abstract. Background: The high blood lipid levels and obesity are one of the main risk factors for cardiovascular diseases, and the atherosclerotic process begins in childhood. Some environmental factors are supposed to be involved in this relationship, such as dietary factors. This study aimed to investigate the relationship between dietary intake and blood lipids levels in overweight and obese schoolchildren. Methods. This is a cross-sectional study with 147 overweight and obese schoolchildren in Botucatu city, Brazil. The anthropometric measurements (body weight, height, body mass index, waist circumference and skinfolds), pubertal staging evaluation and biochemical tests were taken in all children. Three 24h-recall were applied in order to estimate the dietary intake and its relationship with blood lipid levels. The Student t test and multiple linear regression analysis were used for statistical analysis. Statistical significance was assessed at the level of 0.05. The data were processed in SAS software (version 9.1.3; SAS Institute). Results: At this study, 63% of children were obese (body mass index higher than 95§ssup§th§esup§ percentile) and 80% showed high body fat percentage. The percentage of children with abnormal total cholesterol and triglycerides was 12% and 10%, respectively, and 28% presented at least one abnormal lipid levels. The average values of anthropometric measurements were higher in children with elevated lipid levels. Total cholesterol levels were positively related to full-fat dairy products and triglycerides levels to saturated fat percentage. Conclusions: Saturated fat was positively associated with elevated lipid levels in overweight and obese schoolchildren. These results reinforce the importance of healthy dietary habits since childhood in order to reduce the risks of cardiovascular diseases in adulthood. © 2012 Rinaldi et al.; licensee BioMed Central Ltd.

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Epidemiological and experimental studies support the idea that helminth infections can induce a protective effect against the development of autoimmune and allergic diseases. In this study we characterized the immune response induced by Strongyloides venezuelensis infection in C57BL/6 mice and then evaluated the effect of a previous contact with this helminth in the outcome of type 1 diabetes. Animals were initially infected with 2000 L3 larvae from S. venezuelensis and euthanized 22. days later. An acute phase, identified by a high amount of eggs per gram of feces, was established between days 7 and 9 post-infection. Recovery from infection was associated with a Th2 polarized response characterized by a significant level of serum IgG1 specific antibodies and also a significant production of IL-5 and IL-10 by spleen cells stimulated with S. venezuelensis soluble antigen. Immunization with soluble S. venezuelensis antigen associated with complete Freund's adjuvant followed by infection with S. venezuelensis protected mice from diabetes development induced by streptozotocin. Protection was characterized by a higher body weight gain, lower glycemic levels, much less severe insulitis and preserved insulin production. Together, these results indicate that S. venezuelensis contributed to protect C57BL/6 mice against experimental diabetes induced by streptozotocin. © 2013 Elsevier Inc.

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Influenza exacts a heavy burden on the elderly, a segment of the population that is estimated to experience rapid growth in the near future. In the past decade most developed and several developing countries have recommended influenza vaccination for those > 65 years of age. The World Health Organization (WHO) set a goal of 75% influenza vaccination coverage among the elderly by 2010, but it was not achieved. In 2011, the Technical Advisory Group at the Pan American Health Organization, Regional Office of WHO for the Americas, reiterated the influenza vaccine recommendation for older adults. Relatively little information has been compiled on the immunological aspect of aging or on reducing its impact, information particularly relevant for clinicians and gerontologist with firsthand experience confronting its effects. To fill this data gap, in 2012 the Americas Health Foundation (Washington, D.C., United States) and the nonprofit, Fighting Infectious Diseases in Emerging Countries (Miami, Florida, United States), convened a panel of Latin American clinicians and gerontologists with expertise in influenza to discuss key issues and develop a consensus statement. The major recommendations were to improve influenza surveillance throughout Latin America so that its impact can be quantified; and to conduct laboratory confirmation of influenza for all patients who have flu-like symptoms and are frail, immunosuppressed, have comorbidities, are respiratory compromised, or have been admitted to a hospital. The panel also noted that: since evidence for antivirals in the elderly is unclear, their use should be handled on a case-by-case basis; despite decreased immunological response, influenza vaccination in older adults is still crucial; indirect immunization strategies should be encouraged; and traditional infection control measures are essential in long-term care facilities.

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Introduction Jatropha gossypifolia has been used quite extensively by traditional medicine for the treatment of several diseases in South America and Africa. This medicinal plant has therapeutic potential as a phytomedicine and therefore the establishment of innovative analytical methods to characterise their active components is crucial to the future development of a quality product. Objective To enhance the chromatographic resolution of HPLC-UV-diode-array detector (DAD) experiments applying chemometric tools. Methods Crude leave extracts from J. gossypifolia were analysed by HPLC-DAD. A chromatographic band deconvolution method was designed and applied using interval multivariate curve resolution by alternating least squares (MCR-ALS). Results The MCR-ALS method allowed the deconvolution from up to 117% more bands, compared with the original HPLC-DAD experiments, even in regions where the UV spectra showed high similarity. The method assisted in the dereplication of three C-glycosylflavones isomers: vitexin/isovitexin, orientin/homorientin and schaftoside/isoschaftoside. Conclusion The MCR-ALS method is shown to be a powerful tool to solve problems of chromatographic band overlapping from complex mixtures such as natural crude samples. Copyright © 2013 John Wiley & Sons, Ltd. Extracts from J. gossypifolia were analyzed by HPLC-DAD and, dereplicated applying MCR-ALS. The method assisted in the detection of three C-glycosylflavones isomers: vitexin/isovitexin, orientin/homorientin and schaftoside/isoschaftoside. The application of MCR-ALS allowed solving problems of chromatographic band overlapping from complex mixtures such as natural crude samples. Copyright © 2013 John Wiley & Sons, Ltd.

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Aims: The renin-angiotensin system (RAS) plays a major role in cardiovascular diseases in postmenopausal women, but little is known about its importance to lower urinary tract symptoms. In this study we have used the model of ovariectomized (OVX) estrogen-deficient rats to investigate the role of RAS in functional and molecular alterations in the urethra and bladder. Main methods: Responses to contractile and relaxant agents in isolated urethra and bladder, as well as cystometry were evaluated in 4-month OVX Sprague-Dawley rats. Angiotensin-converting enzyme activity and Western blotting for AT1/AT2 receptors were examined. Key findings: Cystometric evaluations in OVX rats showed increases in basal pressure, capacity and micturition frequency, as well as decreased voiding pressure. Angiotensin II and phenylephrine produced greater urethral contractions in OVX compared with Sham group. Carbachol-induced bladder contractions were significantly reduced in OVX group. Relaxations of urethra and bladder to sodium nitroprusside and BAY 41-2272 were unaffected by OVX. Angiotensin-converting enzyme activity was 2.6-fold greater (p < 0.05) in urethral tissue of OVX group, whereas enzyme activity in plasma and bladder remained unchanged. Expressions of AT1 and AT2 receptors in the urethra were markedly higher in OVX group. In bladder, AT1 receptors were not detected, whereas AT2 receptor expression was unchanged between groups. 17β-Estradiol replacement (0.1 mg/kg, weekly) or losartan (30 mg/kg/day) largely attenuated most of the alterations seen in OVX group. Significance: Prolonged estrogen deprivation leads to voiding dysfunction and urethral hypercontractility that are associated with increased ACE activity and up-regulation of angiotensin AT1/AT2 receptor in the urethral tissue. © 2013 Elsevier Inc. All rights reserved.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Climate change is a naturally occurring phenomenon in which the earth‘s climate goes through cycles of warming and cooling; these changes usually take place incrementally over millennia. Over the past century, there has been an anomalous increase in global temperature, giving rise to accelerated climate change. It is widely accepted that greenhouse gas emissions from human activities such as industries have contributed significantly to the increase in global temperatures. The existence and survival of all living organisms is predicated on the ability of the environment in which they live not only to provide conditions for their basic needs but also conditions suitable for growth and reproduction. Unabated climate change threatens the existence of biophysical and ecological systems on a planetary scale. The present study aims to examine the economic impact of climate change on health in Jamaica over the period 2011-2050. To this end, three disease conditions with known climate sensitivity and importance to Jamaican public health were modelled. These were: dengue fever, leptospirosis and gastroenteritis in children under age 5. Historical prevalence data on these diseases were obtained from the Ministry of Health Jamaica, the Caribbean Epidemiology Centre, the Climate Studies Group Mona, University of the West Indies Mona campus, and the Meteorological Service of Jamaica. Data obtained spanned a twelve-year period of 1995-2007. Monthly data were obtained for dengue and gastroenteritis, while for leptospirosis, the annual number of cases for 1995-2005 was utilized. The two SRES emission scenarios chosen were A2 and B2 using the European Centre Hamburg Model (ECHAM) global climate model to predict climate variables for these scenarios. A business as usual (BAU) scenario was developed using historical disease data for the period 2000-2009 (dengue fever and gastroenteritis) and 1995-2005 (leptospirosis) as the reference decades for the respective diseases. The BAU scenario examined the occurrence of the diseases in the absence of climate change. It assumed that the disease trend would remain unchanged over the projected period and the number of cases of disease for each decade would be the same as the reference decade. The model used in the present study utilized predictive empirical statistical modelling to extrapolate the climate/disease relationship in time, to estimate the number of climate change-related cases under future climate change scenarios. The study used a Poisson regression model that considered seasonality and lag effects to determine the best-fit model in relation to the diseases under consideration. Zhang and others (2008), in their review of climate change and the transmission of vector-borne diseases, found that: ―Besides climatic variables, few of them have included other factors that can affect the transmission of vector-borne disease….‖ (Zhang 2008) Water, sanitation and health expenditure are key determinants of health. In the draft of the second communication to IPCC, Jamaica noted the vulnerability of public health to climate change, including sanitation and access to water (MSJ/UNDP, 2009). Sanitation, which in its broadest context includes the removal of waste (excreta, solid, or other hazardous waste), is a predictor of vector-borne diseases (e.g. dengue fever), diarrhoeal diseases (such as gastroenteritis) and zoonoses (such as leptospirosis). In conceptualizing the model, an attempt was made to include non-climate predictors of these climate-sensitive diseases. The importance of sanitation and water access to the control of dengue, gastroenteritis and leptospirosis were included in the Poisson regression model. The Poisson regression model obtained was then used to predict the number of disease cases into the future (2011-2050) for each emission scenario. After projecting the number of cases, the cost associated with each scenario was calculated using four cost components. 1. Treatment cost morbidity estimate. The treatment cost for the number of cases was calculated using reference values found in the literature for each condition. The figures were derived from studies of the cost of treatment and represent ambulatory and non-fatal hospitalized care for dengue fever and gastroenteritis. Due to the paucity of published literature on the health care cost associated with leptospirosis, only the cost of diagnosis and antibiotic therapy were included in the calculation. 2. Mortality estimates. Mortality estimates are recorded as case fatality rates. Where local data were available, these were utilized. Where these were unavailable, appropriate reference values from the literature were used. 3. Productivity loss. Productivity loss was calculated using a human capital approach, by multiplying the expected number of productive days lost by the caregiver and/or the infected person, by GDP per capita per day (US$ 14) at 2008 GDP using 2008 US$ exchange rates. 4. No-option cost. The no-option cost refers to adaptation strategies for the control of dengue fever which are ongoing and already a part of the core functions of the Vector Control Division of the Ministry of Health, Jamaica. An estimated US$ 2.1 million is utilized each year in conducting activities to prevent the post-hurricane spread of vector borne diseases and diarrhoea. The cost includes public education, fogging, laboratory support, larvicidal activities and surveillance. This no-option cost was converted to per capita estimates, using population estimates for Jamaica up to 2050 obtained from the Statistical Institute of Jamaica (STATIN, 2006) and the assumption of one expected major hurricane per decade. During the decade 2000-2009, Jamaica had an average inflation of 10.4% (CIA Fact book, last updated May 2011). This average decadal inflation rate was applied to the no-option cost, which was inflated by 10% for each successive decade to adjust for changes in inflation over time.

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Human serum paraoxonase (PON1) is an esterase associated with high density lipoproteins (HDLs) in the plasma and may confer protection against coronary artery disease. Serum PON1 levels and activity vary widely among individuals and populations of different ethnic groups, such variations appearing to be related to two coding region polymorphisms (L55M and Q192R). Several independent studies have indicated that the polymorphism at codon 192 (the R form) is a significant risk factor for cardiovascular disease in some populations, although this association has not been confirmed in other populations. Given the possible associations of these mutations with heart diseases and the fact that little or nothing is known of their prevalence in Amerindian populations, we investigated the variability of both polymorphisms in ten Amazonian Indian tribes and compared the variation found with that of other Asian populations in which both polymorphisms have been investigated. The results show that the LR haplotype is the most frequent and the MR haplotype is absent in all Amerindians and Asian populations. We also found that South America Amerindians present the highest frequency of the PON1192*R allele (considered a significant risk factor for heart diseases in some populations) of all the Amerindian and Asian populations so far studied.

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Toxoplasmosis and neosporosis are parasitic diseases of global importance. The present study had the objective to determine the influence of age, sex and breed in the prevalence of antibodies against both diseases in dogs from Brotas city, São Paulo State, Brazil. Blood samples of 342 dogs were collected, and the age, sex and breed of each animal were recorded. The serological diagnosis for toxoplasmosis and neosporosis were performed using the immunofluorescent antibody test (IFAT). The Fischer's test was used to calculate the association probability of the variables, with a = 5%. For toxoplasmosis the prevalence of antibodies was 26.9% (CI 95% 22.4-31.8%), and for neosporosis 4.97% (CI 95% 3.1-7.8%). The statistical analysis revealed a higher risk of infection for T. gondii in dogs with more than five years.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)