100 resultados para Genetic Predisposition To Disease
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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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The objective of this study was to estimate genetic parameters for milk yield at 244 days and lactation length in graded buffalo cows at the El Cangre Cattle Genetic Enterprise. Data were gathered from 2575 lactations, 1377 buffalo cows, 37 milking units and between 2002-2009 calving years. It was employed the Restricted Maximum Likelihood method (REML) for estimating (co) variance components with multi trait model. Average of milk yield at 244 days and lactation length were 864 kg and 240 days, respectively. Heritability was 0.15 for milk yield and 0.13 for lactation length. Genetic correlation between these traits was 0.63. It was concluded that it is necessary to intensify selection and to increase control of the information of the genetic herds to obtain high precision in the estimates and therefore, obtain bigger genetic progress in of this species in our country.
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Knowing the genetic parameters of productive and reproductive traits in milking buffaloes is essential for planning and implementing of a program genetic selection. In Brazil, this information is still scarce. The objective of this study was to verify the existence of genetic variability in milk yield of buffaloes and their constituents, and reproductive traits for the possibility of application of the selection. A total of 9,318 lactations records from 3,061 cows were used to estimate heritabilities for milk yield (MY), fat percentage (%F), protein percentage (%P), length of lactation (LL), age of first calving (AFC) and calving interval (CI) and the genetic correlations among traits MY, %F and %P. The (co) variance components were estimated using multiple-trait analysis by Bayesian inference method, applying an animal model, through Gibbs sampling. The model included the fixed effects of contemporary groups (herd-year and calving season), number of milking (2 levels), and age of cow at calving as (co) variable (quadratic and linear effect). The additive genetic, permanent environmental, and residual effects were included as random effects in the model. Estimated heritability values for MY, % F, % P, LL, AFC and CI were 0.24, 0.34, 0.40, 0.09, 0.16 and 0.05, respectively. The genetic correlation estimates among MY and % F, MY and % P and % F and % P were -0.29, -0.18 and 0.25, respectively. The production of milk and its constituents showed enough genetic variation to respond to a selection program. Negative estimates of genetic correlations between milk production and its components suggest that selection entails a reduction in the other.
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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BACKGROUND: Acne vulgaris has an important genetic predisposition, as well as keratosis pilaris. Clinical observations suggest that patients with keratosis pilaris have less frequent or less severe acne breakouts; however, we found no studies on this regard OBJECTIVE: To determine if the presence of keratosis pilaris is associated with lower prevalence and severity of acne. METHODS: A cross-sectional study was conducted with dermatology outpatients aged between 14 and 35 years. We evaluated history and clinical grade of acne, demographic variables, history of atopy, smoking, and use of hormonal contraceptives. Two groups were defined by the presence or absence of moderate to severe keratosis pilaris on the arms and were compared by bivariate analysis and by conditional multiple logistic regression. RESULTS: We included 158 patients (66% women), with a median age of 23 +/- 11 years. Twenty-six percent of them had keratosis pilaris, which was associated with a history of atopy (odds ratio [OR]=2.80 [1.36 to 5.75]; p<0.01). Acne was present in 66% of subjects, and was related to family history of acne (OR=5.75 [2.47 to 13.37]; p<0.01). In bivariate and multivariate analysis, the group with keratosis pilaris had a less frequent history of acne (OR=0.32 [0.14 to 0.70]; p<0.01). CONCLUSION: The presence of moderate to severe keratosis pilaris on the arms was associated with lower prevalence of acne vulgaris and lower severity of facial lesions in adolescents and young adults.
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Helicobacter pylori (H. pylori) infection is the most common bacterial infection worldwide. Persistent infection of the gastric mucosa leads to inflammatory processes and may remain silent for decades or progress causing more severe diseases, such as gastric adenocarcinoma. The clinical consequences of H. pylori infection are determined by multiple factors, including host genetic predisposition, gene regulation, environmental factors and heterogeneity of H. pylori virulence factors. After decades of studies of this successful relationship between pathogen and human host, various mechanisms have been elucidated. In this review, we have made an introduction on H. pylori infection and its virulence factors, and focused mainly on modulation of host immune response triggered by bacteria, changes in the pattern of gene expression in H. pylori-infected gastric mucosa, with activation of gene transcription involved in defense mechanisms, inflammatory and immunological response, cell proliferation and apoptosis. We also highlighted the role of bacteria eradication on gene expression levels. In addition, we addressed the recent involvement of different microRNAs in precancerous lesions, gastric cancer, and inflammatory processes induced by bacteria. New discoveries in this field may allow a better understanding of the role of major factors involved in the pathogenic mechanisms of H. pylori. (C) 2014 Baishideng Publishing Group Co., Limited. All rights reserved.
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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Clinical outcomes of periodontal therapy are not influenced by the ATC/TTC haplotype in the IL8 gene
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Introduction: Preterm Labor (PTL) and Preterm Premature Rupture of Membranes (PPROM) cause severe complications for both mother and fetus. Among the risk factors associated with preterm labor and PPROM, genetic predisposition has been gaining importance. However, the association between polymorphic genes and the pathogenesis of PTL and PPROM remains elusive. A better understanding of the genetic mechanisms underlying these adverse pregnancy outcomes may enable the identification of high risk patients and allow new approaches to minimize the deleterious effects of prematurity. Aim: To determine the association between maternal IL-6 polymorphism gene and the occurrence of PTL and PPROM. Patients and Methods: The study included 109 patients with prior history of PL and/or PPROM that delivered prematurely at the Obstetrical Unit Care of Botucatu Medical School, UNESP between 2003 and 2012. The control group consisted of 68 patients that delivered at term, matched to the case group by age, ethnicity, and sex of the newborn. Oral swabs (Cath-AllTM – Epicentre Biotechnologies) were collected for analysis of genetic polymorphisms by PCR. Statistical tests were performed to compare genotype, clinical and socio-demographic data from the groups. A p-value of <0.05 was considered significant. Results: The sociodemographic characteristics in both groups were homogeneously distributed. The frequency of the polymorphic allele C, associated with less production of IL-6, and therefore thought to be protective against PTL and PPROM, was 32,5% in the study group and 30,9% in the control group, without statistically significant differences. Conclusion: Considering the sample size included in this study, the frequency of the mutated allele is similar in pregnant women who delivered at term and gestational complications as PTL and PPROM
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P-glycoprotein is an adenosine triphosphate (ATP)-driven drug efflux carrier responsible for transport of xenobiotics and multiple classes of drugs, many usually use in veterinary medicine. Encoded by MDR1 gene, also referred to as ABCB1, located on chromosome 14, is expressed in many tissues with secretory or excretory functions, such as liver, kidney and intestine, where it limits drug absorption from the gut and promotes drug excretion into the bile and urine of their substrates. In 2001, a 4 base pair gene deletion mutation in the canine MDR1 gene was identified as MDR1-1▲, ABCB1-1▲, MDR1 MDR1 nt 230 (del4) and associated with an non-functional Pglycoprotein. The clinical correlation is the (hyper) sensitivity of certain dogs breeds, mostly collies, to a few classes of drugs such as anticancer drugs (doxorubicin, vincristine, vinblastine), immunosuppressants (cyclosporine), antiparasitic drugs (ivermectin, moxidectin), steroids hormones (aldosterone, cortisol, dexamethasone), antimicrobial agents (tetracycline, doxycycline, levofloxacin, ketoconazole, itraconazole), analgesics (morphine, methadone), antidiarrheals (loperamide), antiepileptic agents (phenothiazine), cardiac drugs (digoxin, diltiazem, verapamil, talinolol) and others. Dogs with homozygous MDR1 nt 230 (del4) MDR1 mutations (MDR1 - / -) have a higher predisposition to intoxication with substrates of P-gp than heterozygous (MDR1 + / -) and these are more likely than dogs homozygous nonmutant (MDR1 +/ +). After the identification of nt230 (del4) mutation, several molecular techniques have been developed for identification of mutant animals as a diagnostic method. The importance of molecular diagnosis is, after the identification of mutant animals, establish treatment protocols safe, exclude this animals from reproduction (genetic selection program) and investigating the history of adverse drugs reactions... (Complete abstract click electronic access below)
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The practice of regular physical activity has been considered a protective factor against the degenerative processes of the body, acting as a promoter of health, especially for risk groups such as obese and resistant groups exercise adherence as among the intellectually disabled (ID) . This study involved the administration of a training protocol and the physical parameters of longitudinal health in a subject about 43 years, intellectually deficient, hypertensive, obese and with a strong predisposition to develop diabetes and heart disease. The main objective of long-term program was to reduce body weight and normalize blood pressure (BP) after the student's physical activity and preferentially interfere with BP values at rest (ie before the daily schedule). The other objective was to improve general physical fitness. The protocol involved four meetings per week lasting one hour, in addition to participation in the program PROEFA (twice a week with sessions of one hour each), totaling 57 sessions spread over five months. The evaluation protocol included in each session the following tests: blood pressure measurements and heart rate, and amount of physical activity recorded via pedometer. Tests applied before and after the training included: anthropometric assessment, agility test, flexibility test, test drive through vertical and horizontal jumps and endurance to the test bench. The mass (kg) and BMI corresponded to the initial values of 127.7 kg and 42.05 kg m-2, and 5 months after 113.2 kg and 37.48 kg m-2, respectively. The waist-hip ratio was close to 1 after the intervention and this value corresponded to 0.98. For the test of agility (shuttle run) was not found improvement in performance. To test the values of the horizontal jump in pre-test were 52 cm and 56 cm post-test, vertical jump has been improved and...(Complete abstract click electronic access below)
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Molar-incisor hypomineralisation is a qualitative defect of dental tissue of systemic origin affecting one or more permanent first molars and sometimes the permanent incisors as well. There are still no conclusive data on the aetiology of this hypomineralisation, however, systemic factors such as respiratory diseases and prenatal and perinatal complications are regarded as possible causes. The objective is to present three clinical cases of twins, one Monozygotic and two Dizygotic Twins with molar-incisor hypomineralisation, showing evidence of its manifestation as well as clinical the characteristics and aetiological factors involved. The clinical findings involving twins suggest that ameloblasts are specifically affected in their developmental phase, which includes a number of factors. Although prenatal and perinatal complications are not decisive in the development of molar-incisor hypomineralization, it is suggested a possible genetic susceptibility to the disease. Prospective observational studies using a population sample containing data on the last three months of gestation to the eruption of permanent teeth are needed to confirm the causeeffect relationships.