997 resultados para COMMON POLYMORPHISMS


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Dissertação apresentada para a obtenção do Grau de Mestre em Genética Molecular e Biomedicina, pela Universidade Nova de Lisboa, Faculdade de Ciências e Tecnologia

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In order to evaluate Callithrix jacchus as an animal model for mansoni schistosomiasis, a group of 10 male animals were once percutaneously exposed to 250 cercariae of the Schistosoma mansoni SLM (São Lourenço da Mata) strain. Animals were periodically bled for measuring serum level of enzymes and proteins and for blood cell counting. When comparing pre-infection to post-infection values, a significant increase was found for alkaline phosphatase at 15 to 120 days p.i., differential counts of eosinophil at 45 and 60 days, and total protein and global eosinophil counts at 120 days. No Schistosoma mansoni eggs were found in stools. Adult worms of small size were recovered from five animals. At day 120, the number of Schistosoma mansoni eggs/g of tissue was 0-289.7 (liver), 0-30.1 (large intestine) and 0-171.4 (small intestine). These findings lead us to classify Callithrix jacchus as a non-permissive host to the SLM strain of Schistosoma mansoni.

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INTRODUCTION: The present study investigated the association between mannose-binding lectin (MBL) gene polymorphism and serum levels with infection by HIV-1. METHODS: Blood samples (5mL) were collected from 97 HIV-1-infected individuals resident in Belém, State of Pará, Brazil, who attended the Special Outpatient Unit for Infections and Parasitic Diseases (URE-DIPE). CD4+ T-lymphocyte count and plasma viral load were quantified. A 349bp fragment of exon 1 of the MBL was amplified via PCR, using genomic DNA extracted from controls and HIV-1-infected individuals, following established protocols. MBL plasma levels of the patients were quantified using an enzyme immunoassay kit. RESULTS: Two alleles were observed: MBL*O, with a frequency of 26.3% in HIV-1-infected individuals; and the wild allele MBL*A (73.7%). Similar frequencies were observed in the control group (p > 0.05). Genotype frequencies were distributed according to the Hardy-Weinberg equilibrium in both groups. Mean MBL plasma levels varied by genotype, with statistically significant differences between the AA and AO (p < 0.0001), and AA and OO (p < 0.001) genotypes, but not AO and OO (p = 0.17). Additionally, CD4+ T-lymphocytes and plasma viral load levels did not differ significantly by genotype (p > 0.05). CONCLUSIONS: The results of this study do not support the hypothesis that MBL gene polymorphism or low plasma MBL concentrations might have a direct influence on HIV-1 infection, although a broader study involving a large number of patients is needed.

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INTRODUCTION: This study evaluated the degree of disability, pain levels, muscle strength, and electromyographic function (RMS) in individuals with leprosy. METHODS: We assessed 29 individuals with leprosy showing common peroneal nerve damage and grade 1 or 2 disability who were referred for physiotherapeutic treatment, as well as a control group of 19 healthy participants without leprosy. All subjects underwent analyses of degree of disability, electromyographic tests, voluntary muscle force, and the Visual Analog Pain Scale. RESULTS: McNemar's test found higher levels of grade 2 of disability (Δ = 75.9%; p = 0.0001) among individuals with leprosy. The Mann-Whitney test showed greater pain levels (Δ = 5.0; p = 0.0001) in patients with leprosy who had less extension strength in the right and left extensor hallucis longus muscles (Δ = 1.28, p = 0.0001; Δ = 1.55, p = 0.0001, respectively) and dorsiflexion of the right and left feet (Δ = 1.24, p = 0.0001; Δ = 1.45, p = 0.0001, respectively) than control subjects. The Kruskal-Wallis test showed that the RMS score for dorsiflexion of the right (Δ = 181.66 m·s-2, p = 0.001) and left (Δ = 102.57m·s-2, p = 0.002) feet was lower in patients with leprosy than in control subjects, but intragroup comparisons showed no difference. CONCLUSIONS: Leprosy had a negative influence on all of the study variables, indicating the need for immediate physiotherapeutic intervention in individuals with leprosy. This investigation opens perspectives for future studies that analyze leprosy treatment with physical therapeutic intervention.

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We report a severe case of diarrhea in a 62-year-old female HIV-negative patient from whom Giardia lamblia and Isospora belli were isolated. Because unusual and opportunistic infections should be considered as criteria for further analysis of immunological status, laboratory investigations led to a diagnosis of common variable immunodeficiency (CVID). This is the first reported case of isosporiasis in a patient with CVID and illustrates the importance of being aware of a possible link, particularly in relation to primary immunodeficiency.

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INTRODUCTION: The present study investigated the prevalence of two single-nucleotide polymorphisms (SNPs) in the Toll-like receptor 3 (TLR3) gene in patients infected with hepatitis B virus (HBV) and hepatitis C virus (HCV). METHODS: Samples collected from HCV (n = 74) and HBV (n = 35) carriers were subjected to quantitative real-time PCR (qPCR) to detect the presence of the SNPs rs5743305 and rs3775291 in TLR3 and to measure the following biomarkers: alanine aminotransferase (ALT), aspartate aminotransferase (AST), gamma-glutamyl transpeptidase (GGT), and prothrombin time (PT). A healthy control group was investigated and consisted of 299 HCV- and HBV-seronegative individuals. RESULTS: No significant differences in allele, genotype and haplotype frequencies were observed between the investigated groups, and no association was observed between the polymorphisms and histopathological results. Nevertheless, genotypes TA/AA (rs5743305) and GG (rs3775291) appear to be associated with higher levels of ALT (p<0.01), AST (p<0.05) and PT (p<0.05). In addition, genotypes TT (rs5743305; p<0.05) and GG (rs3775291; p<0.05) were associated with higher GGT levels. CONCLUSIONS: This genetic analysis revealed the absence of an association between the polymorphisms investigated and susceptibility to HBV and HCV infection; however, these polymorphisms might be associated with a greater degree of biliary damage during the course of HCV infection.

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This paper presents part of a study aimed at finding a suitable, yet cost-effective, surface finish for a steel structure subject to the car washing environment and corrosive chemicals. The initial, life cycle and average equivalent annual (AEAC) costs for surface finishing methods were calculated for a steel structure using the LCCC algorithm developed by American Galvanizers Association (AGA). The cost study consisted of 45 common surface finish systems including: hot-dip galvanization (HDG), metallization, acrylic, alkyd and epoxy as well as duplex coatings such as epoxy zinc and inorganic zinc (IOZ). The results show that initial, life cycle and AEAC costs for hot dip galvanization are the lowest among all the other methods, followed by coal tar epoxy painting. The annual average cost of HDG for this structure was estimated about €0.22/m2, while the other cost-effective alternatives were: IOZ, polyurea, epoxy waterborne and IOZ/epoxy duplex coating.

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The purpose of this study is to evaluate in vitro the color stability of composite resins when exposed to beverages with high coloring contents from the Amazon region. 240 samples from four different composite brands (Natural Look, Z350, 4Seasons and Opallis) of hue A3 were fabricated using an acrylic matrix. The samples were stored in distilled water at 37ºC for 24 hours. The initial color (T0) was registered using a Canon EOS Rebel XTi 10 mp camera, and then the samples were divided into four groups (n=15): G1 (coffee), G2 (açaí juice), G3 (energetic guaraná) and G4 (control - distilled water). The samples were exposed to solutions of DES (6hs) and RE (18hs) and placed in a double boiler under constant agitation, at 37ºC for 30 days. The samples were immersed in the coloring solutions for 15 minutes daily. After 7, 15 and 30 days, new photographic registers were made (T1, T2 and T3). The images were analyzed using Corel PHOTO-PAINT 12 software to identify the colors through the HSB system. The Kruskal-Wallis and t tests (p<0.05) demonstrated significant differences in color (hue, saturation and brightness). The results revealed that none of the tested composites showed color stability when exposed to coloring solutions, and that the Amazon region beverages (açaí juice and energetic guaraná) showed to be less coloring than coffee.

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Compelling biological and epidemiological evidences point to a key role of genetic variants of the TERT and TERC genes in cancer development. We analyzed the genetic variability of these two gene regions using samples of 2,267 multiple myeloma (MM) cases and 2,796 healthy controls. We found that a TERT variant, rs2242652, is associated with reduced MM susceptibility (OR?=?0.81; 95% CI: 0.72-0.92; p?=?0.001). In addition we measured the leukocyte telomere length (LTL) in a subgroup of 140 cases who were chemotherapy-free at the time of blood donation and 468 controls, and found that MM patients had longer telomeres compared to controls (OR?=?1.19; 95% CI: 0.63-2.24; ptrend ?=?0.01 comparing the quartile with the longest LTL versus the shortest LTL). Our data suggest the hypothesis of decreased disease risk by genetic variants that reduce the efficiency of the telomerase complex. This reduced efficiency leads to shorter telomere ends, which in turn may also be a marker of decreased MM risk.

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Aim: To determine the common symptoms in current soft contact lens (CL) wearers and theirassociation with other factors among Nepalese population.Methods: All the current CL wearers who started to wear soft CL in Nepal Eye Hospital between July 2007 and June 2012 were invited for the participation. Frequency of the ten most common symptoms, divided into never, occasionally, frequently and consistent were recorded. Association between degree of symptoms with other factors, e.g. age, gender, profession, cigarette smoking, ethnicity, level of education and duration and wearing modality of CL wear were analyzed.Results: Out of 129 subjects participated in this study, 67% were female; the mean age of the subjects was 23.9 ± 4.3 years. Ninety seven percent of them had at least one symptom occasionally or frequently or consistently. Discomfort was found in 88.4% of the total subjects.Other common symptoms were foreign body sensation in 73.6%, redness in 65.9%, reduced wearing time in 63.6% and dryness in 62.8%. Symptoms were found occasionally in the majority of subjects. Degree of symptoms was not associated with age, gender, profession, education status, ethnicity of subjects and duration or modality of lens wear (p > 0.05) but was positively associated with passive cigarette smoking (p < 0.001).Conclusion: Almost all of the Nepalese soft CL wearers had some types of symptoms at least occasionally. Discomfort was the most common symptom. Degree of symptoms was associated with the passive smoking but not with other factors like age, sex, profession and duration of lens wear.

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OBJECTIVE: Common mental disorders (CMD) have a high impact on interpersonal relationships and quality of life and are potential underlying causes for the development of more serious disorders. Medical students have been indicated as a risk population for the development of CMD. The aim of this study was to determine the frequency of CMD in undergraduate medical students and to identify related factors. METHODS: A cross-sectional study was performed in a sample population of medical students. CMD was identified according to the 20-item Self-Report Questionnaire. RESULTS: Two hundred and twenty-three students completed the questionnaire. The overall prevalence of CMD was 29.6% and its presence was independently associated with sleep disorders, not owning a car, not working and sedentary lifestyle. CONCLUSIONS: These findings indicate a high prevalence of CMD in the sample studied and are important for supporting actions to prevent mental disorders in future doctors and for reflecting on the curricula currently in use in medical schools.

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Transforming growth factor beta (TGF-ß) plays an important role in carcinogenesis. Two polymorphisms in the TGF-ß1 gene (-509C/T and 869T/C) were described to influence susceptibility to gastric and breast cancers. The 869T/C polymorphism was also associated with overall survival in breast cancer patients. In the present study, we investigated the relevance of these TGF-ß1 polymorphism in glioma risk and prognosis. A case-control study that included 114 glioma patients and 138 cancer-free controls was performed. Single nucleotide polymorphisms (SNPs) were evaluated by polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP). Univariate and multivariate logistic regression analyses were used to calculate odds ratio (OR) and 95 % confidence intervals (95 % CI). The influence of TGF-ß1 -509C/T and 869T/C polymorphisms on glioma patient survival was evaluated by a Cox regression model adjusted for patients' age and sex and represented in Kaplan-Meier curves. Our results demonstrated that TGF-ß1 gene polymorphisms -509C/T and 869T/C are not significantly associated with glioma risk. Survival analyses showed that the homozygous -509TT genotype associates with longer overall survival of glioblastoma (GBM) patients when compared with patients carrying CC + CT genotypes (OR, 2.41; 95 % CI, 1.06-5.50; p = 0.036). In addition, the homozygous 869CC genotype is associated with increased overall survival of GBM patients when compared with 869TT + TC genotypes (OR, 2.62; 95 % CI, 1.11-6.17; p = 0.027). In conclusion, this study suggests that TGF-ß1 -509C/T and 869T/C polymorphisms are not significantly associated with risk for developing gliomas but may be relevant prognostic biomarkers in GBM patients.

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OBJECTIVE: To assess the risk factors, lipid and apolipoprotein profile, hemostasis variables, and polymorphisms of the apolipoprotein AI-CIII gene in early coronary artery disease (CAD). METHODS: Case-control study with 112 patients in each group controlled by sex and age. After clinical evaluation and nutritional instruction, blood samples were collected for biochemical assays and genetic study. RESULTS: Familial history of early CAD (64 vs 39%), arterial hypertension (69 vs 36%), diabetes mellitus (25 vs 3%), and previous smoking (71 vs 46%) were more prevalent in the case group (p<0.001). Hypertension and diabetes were independent risk factors. Early CAD was characterized by higher serum levels of total cholesterol (235 ± 6 vs 209 ± 4 mg/dL), of LDL-c (154 ± 5 vs 135 ± 4 mg/dL), triglycerides (205 ± 12 vs 143 ± 9 mg/dL), and apolipoprotein B (129 ± 3 vs 105 ± 3 mg/dL), and lower serum levels of HDL-c (40 ± 1 vs 46 ± 1 mg/dL) and apolipoprotein AI (134 ± 2 vs 146 ± 2mg/dL) [p<0.01], in addition to an elevation in fibrinogen and D-dimer (p<0.02). The simultaneous presence of the rare alleles of the APO AI-CIII genes in early CAD are associated with hypertriglyceridemia (p=0.03). CONCLUSION: Of the classical risk factors, hypertension and diabetes mellitus were independently associated with early CAD. In addition to an unfavorable lipid profile, an increase in the thrombotic risk was identified in this population. An additive effect of the APO AI-CIII genes was observed in triglyceride levels.

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OBJECTIVE: To assess whether the intima-media thickness of the common carotid artery of patients with coronary artery disease is greater than that of individuals without that disease. METHODS: Case-control prospective study of prevalence assessing the thickness of the intima and media layers of 29 patients with coronary artery disease and 29 individuals without that disease by using ultrasonography of the carotid arteries. Diabetic patients and those with peripheral artery and cerebral vasculopathies were excluded from the study. RESULTS: The mean age was 51±7.5 years. Fifty-five per cent of the patients were males. Acute myocardial infarction was present in 62%; cardiac catheterization in 72%; saphenous bypass in 5%; and coronary angioplasty in 24%. The intima-media thickness of the common carotid artery in case patients and in control patients was, respectively, 0.81±0.25 mm and 0.62±0.18 mm (P=0.001). CONCLUSION: Intima-media thickness of the common carotid artery was significantly greater in patients with coronary artery disease.