72 resultados para Hemoglobin variants
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We report the prevalence of human papillomavirus type 16 (HPV-16) variants in women with cervical lesions from the Federal District, Central Brazil. We analyzed 34 HPV-16 samples, identifying the sequence variations of E6 and L1 genes and correlating variant frequency with disease status. The most prevalent HPV-16 variant was the European (50%), followed by Asian-American (41.2%), African-1 (5.9%), and African-2 (2.9%). European and non-European variants appeared in equal frequencies among the cytological types of lesions - atypical squamous or glandular cells of undetermined significance, cytological alterations suggesting HPV infection, cervical intraepithelial neoplasias, squamous cell carcinoma, and adenocarcinoma.
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Hemopressin (PVNFKFLSH), a novel bioactive peptide derived from the alpha1-chain of hemoglobin, was originally isolated from rat brain homogenates. Hemopressin causes hypotension in anesthetized rats and is metabolized in vivo and in vitro by endopeptidase 24.15 (EP24.15), neurolysin (EP24.16), and angiotensin-converting enzyme (ACE). Hemopressin also exerts an antinociceptive action in experimental inflammatory hyperalgesia induced by carrageenin or bradykinin via a mechanism that is independent of opioids. These findings suggest that this peptide may have important regulatory physiological actions in vivo.
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Mutations located in the 109-amino acid fragment of NS5B are typically associated with resistance to interferon (IFN) and ribavirin (RIB) and to new antiviral drugs. The prevalence of these mutations was examined in 69 drug-naïve individuals with hepatitis C virus (HCV) infections in Rio de Janeiro, Brazil. Mutations related to non-response to IFN/RIB were observed in all subtypes studied (1a, 1b, 2b, 3a and 4). The most common mutation was Q309R, present in all subtypes, except subtype 2b with frequency above 20%. D244N was detected only in subtype 3a and A333E was detected only in subtype 2b. We did not detect the S282T, S326G or T329I mutations in any of the samples analysed. Of note, the C316N mutation, previously related to a new non-nucleoside compound (HCV796 and AG-021541), was observed in only eight of 33 (24%) samples from subtype 1b. Site 316 was under positive selection in this HCV variant. Our data highlight the presence of previously described resistance mutations in HCV genotypes from drug-naïve patients.
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Plasmodium vivax radical cure requires the use of primaquine (PQ), a drug that induces haemolysis in glucose-6-phosphate dehydrogenase deficient (G6PDd) individuals, which further hampers malaria control efforts. The aim of this work was to study the G6PDd prevalence and variants in Latin America (LA) and the Caribbean region. A systematic search of the published literature was undertaken in August 2013. Bibliographies of manuscripts were also searched and additional references were identified. Low prevalence rates of G6PDd were documented in Argentina, Bolivia, Mexico, Peru and Uruguay, but studies from Curaçao, Ecuador, Jamaica, Saint Lucia, Suriname and Trinidad, as well as some surveys carried out in areas of Brazil, Colombia and Cuba, have shown a high prevalence (> 10%) of G6PDd. The G6PD A-202A mutation was the variant most broadly distributed across LA and was identified in 81.1% of the deficient individuals surveyed. G6PDd is a frequent phenomenon in LA, although certain Amerindian populations may not be affected, suggesting that PQ could be safely used in these specific populations. Population-wide use of PQ as part of malaria elimination strategies in LA cannot be supported unless a rapid, accurate and field-deployable G6PDd diagnostic test is made available.
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Objective: To assess the level of hemoglobin-Hb during pregnancy before and after fortification of flours with iron. Method: A cross-sectional study with data from 12,119 pregnant women attended at a public prenatal from five macro regions of Brazil. The sample was divided into two groups: Before-fortification (birth before June/2004) and After-fortification (last menstruation after June/2005). Hb curves were compared with national and international references. Polynomial regression models were built, with a significance level of 5%. Results: Although the higher levels of Hb in all gestational months after-fortification, the polynomial regression did not show the fortification effect (p=0.3). Curves in the two groups were above the references in the first trimester, with following decrease and stabilization at the end of pregnancy. Conclusion: Although the fortification effect was not confirmed, the study presents variation of Hb levels during pregnancy, which is important for assistencial practice and evaluation of public policies.
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Objective: To identify genetic counseling programs that do not encourage therapeutic abortion for individuals with hemoglobin disorders and/or for their relatives. Method: Systematic literature review of articles published from 2001 to 2012 that are located in the PubMed, LILACS, SciELO and SCOPUS databases using keywords in Portuguese, English and Spanish and that met the inclusion and exclusion criteria described on a standardized form. Results: A total of 409 articles were located, but only eight (1.9%) were selected for analysis. Conclusion: Although seldom mentioned in the literature, educational/preventive programs targeting hemoglobinopathies are feasible and allow the affected individuals to acquire knowledge on the consequences of this condition and their odds of transmitting it.
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The objective of this study was to obtain genetic marker information in the Gyr breed by analyzing bGH and Pit-1 gene polymorphisms and to verify their association with milk production traits. One sample including 40 Gyr bulls were genotyped at two bGH gene restriction sites (bGH- AluI and bGH-MspI) and at one restriction site in the Pit-1 gene (Pit-1 HinfI). The bGH-MspI(-) allele was favorable for fat milk percentage. The heterozigous Pit-1 HinfI (+/-) bulls were superior for fat milk production, in relation to homozigous Pit-1 HinfI (+/+). The Pit-1 and bGH genes are strong candidates in the dairy cattle QTL search, and zebuine populations are promising samples for this purpose.
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The objective of this work was to determine the inheritance of the long juvenile period trait in natural variants of the Doko, BR 9 (Savana), Davis, Embrapa 1 (IAS 5RC), and BR 16 soybean cultivars. Complete diallel crosses were made between the Doko and BR 16 cultivars and their variants. A 3:1 segregation ratio was observed in the F2 populations of the 'Doko' x Doko-18T, 'Doko' x Doko-Milionária, 'Davis' x São Carlos, and 'BR 9 (Savana)' x MABR92-836 (Savanão) crosses, indicating that the long juvenile period trait is controlled by a pair of recessive genes. The difference in late flowering between the Doko cultivar and both of its variants was caused by a recessive spontaneous mutation at the same genetic locus. However, the variants Doko-18T and Doko-Milionária are identical mutants that share a pair of genes that control the long juvenile period under short-day conditions. These mutants can be used in breeding programs to develop cultivars adapted to low-latitude tropical regions.
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Abstract Although digital angiography remains as the gold standard for imaging the celiac arterial trunk and hepatic arteries, multidetector computed tomography in association with digital images processing by software resources represents a useful tool particularly attractive for its non invasiveness. Knowledge of normal anatomy as well as of its variations is helpful in images interpretation and to address surgical planning on a case-by-case basis. The present essay illustrates several types of anatomical variations of celiac trunk, hepatic artery and its main branches, by means of digitally reconstructed computed tomography images, correlating their prevalence in the population with surgical implications.
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The aim of the present study was to evaluate the effect of first morning urinary volume (collected on three different non-consecutive days), fasting blood glucose (determined on the first and third days of urine collection), and glycosylated hemoglobin (determined on the first and third days of urine collection) on the albumin concentration in first morning urine samples collected on three different days. We found 3.6% asymptomatic bacteriuria in the urine samples; therefore, every urine sample must be tested to exclude infection. One hundred and fifty urine samples were provided by 50 IDDM patients aged 21.9 ± 7 (12-38) years with a disease duration of 6.8 ± 5.8 (0.4-31) years attending the Diabetes Clinic at the State University Hospital of Rio de Janeiro. There were no differences in albumin concentration (6.1 vs 5.8 vs 6.2 µg/ml; P = NS) or urinary volume (222.5 vs 210 vs 200 ml) between the three samples. In addition, there were no differences in fasting blood glucose (181.9 ± 93.6 vs 194.6 ± 104.7 mg%; P = NS) or glycosylated hemoglobin (HbA1)(8.4 ± 1.3 vs 8.8 ± 1.5%; P = NS) between the first and third blood samples. Six patients (group 1) had a mean urinary albumin concentration of more than 20 µg/ml for the three urine samples. This group was compared with the 44 patients (group 2) with a mean urinary albumin concentration for the three urine samples of less than 20 µg/ml. No difference was found between groups 1 and 2 in relation to fasting blood glucose (207.1 ± 71.7 vs 187.6 ± 84.6 mg/dl), HbA1 (8.1 ± 0.9 vs 8.6 ± 1.1%) or urinary volume [202 (48.3-435) vs 246 (77.3-683.3) ml]. Stepwise multiple regression analysis with albumin concentration of first morning urine samples as the dependent variable, and urinary volume, fasting blood glucose and glycosylated hemoglobin as independent variables, showed that only 12% (P = 0.01) of the albumin concentration could be accounted for by the independent effect of morning urine volume on the first day of urine collection. No urine samples showed a change in the cutoff level of 20 µg/ml of albumin concentration as the result of volume. Fasting blood glucose and glycosylated hemoglobin did not influence the urinary albumin concentration. Considerable variability in urinary albumin concentration was found in the three morning urine samples with a mean intraindividual coefficient variation of 56%. In conclusion, in the present study, urinary volume had a minimal, though not constant, effect on first morning urinary albumin concentration. Day-to-day metabolic and clinical control of IDDM patients, except probably for ketoacidosis, should not contraindicate microalbuminuria screening in first morning urine samples
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HIV-1 variability may have an important impact on transmission and pathogenicity. Better characterization of the HIV epidemic in Brazil is necessary for the development of vaccine trials in this country. We analyzed sera from 108 HIV-1-infected volunteers from São Paulo City to determine serotype and reactivity for V3 motifs of HIV in this population, and the relationship to transmission mode. We concluded that the HIV-1 B serotype is frequent among heterosexually infected women, even in the absence of anal sex, and that two major V3 motifs, GPGR and GWGR, had similar prevalence among women (48% and 52%, respectively) and men (56% and 44%, respectively). We also observed an equal distribution of these strains regardless of their CD4+ T cell counts, clinical status, and mode of transmission. Even though V3 serology for HIV-1 subtyping is an inexpensive tool for use in developing countries, additional methods, such as heteroduplex mobility assay and direct DNA sequencing, should be included to determine HIV-1 genetic diversity.
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We have investigated the relationship between fetal hemoglobin (HbF) levels and metabolic control in subjects with insulin-dependent (N = 79) and non-insulin-dependent diabetes mellitus (N = 242). HbF and hemoglobin A1c (HbA1c) levels were increased in subjects with type 1 and type 2 diabetes as compared to levels in nondiabetic individuals (P<0.0001), and were significantly higher in type 1 than in type 2 diabetes subjects. Lower levels of HbA1c and HbF were observed in type 2 diabetes subjects treated by diet, intermediate levels in those treated with oral hypoglycemic agents, and higher levels in those treated with insulin. HbF and HbA1c levels were correlated in type 1 diabetes (R2 = 0.57, P<0.0001) and type 2 diabetes (R2 = 0.58, P<0.0001) subjects. Following intense treatment, twelve diabetic patients showed significant improvement both in HbA1c and HbF values. We conclude that increased HbF levels reflect poor metabolic control in subjects with diabetes mellitus.
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Fetal hemoglobin was measured in HIV1/2 patients under treatment with combined therapy (zidovudine and a protease inhibitor). A total of 143 patients and 103 normal individuals were investigated by the quantitative method of Betke and the semi-quantitative acid elution method of Kleihauer. In the normal person, hemoglobin F makes up less than 1% and an increase higher than 1.5% was observed in 21.4% of HIV patients by the method of Betke and in 24.8% of HIV-infected patients by the method of Kleihauer. The quantitative biochemical method of Betke showed that the populations were significantly different (two-tailed Mann-Whitney test). The reason for this hemoglobin F increase might be ascribed to the effect of zidovudine or to direct viral action on gamma chain expression. The finding of a higher F cell frequency indicated by the method of Kleihauer rather suggests that there is an increased F cell clone proliferation rather than an increase in hemoglobin F level in every cell.
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Hereditary persistence of fetal hemoglobin is an uncommon, benign disorder in which the expression of gamma-globin genes persists into adult life. Several point mutations have been associated with the increased gamma-globin gene promoter activity. We evaluated the -195 (C->G) mutation by a functional in vitro assay based on the luciferase reporter gene system. The results indicated that the increased promoter activity observed in vivo could not be reproduced in vitro under the conditions employed, suggesting that other factors may be involved in the overexpression of the gamma-globin gene containing the -195 (C->G) mutation. Furthermore, this is the first time that the -195 (C->G) mutation of the Agamma-globin gene has been evaluated by in vitro gene expression.
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Nitric oxide (NO)-synthase is present in diaphragm, phrenic nerve and vascular smooth muscle. It has been shown that the NO precursor L-arginine (L-Arg) at the presynaptic level increases the amplitude of muscular contraction (AMC) and induces tetanic fade when the muscle is indirectly stimulated at low and high frequencies, respectively. However, the precursor in muscle reduces AMC and maximal tetanic fade when the preparations are stimulated directly. In the present study the importance of NO synthesized in different tissues for the L-Arg-induced neuromuscular effects was investigated. Hemoglobin (50 nM) did not produce any neuromuscular effect, but antagonized the increase in AMC and tetanic fade induced by L-Arg (9.4 mM) in rat phrenic nerve-diaphragm preparations. D-Arg (9.4 mM) did not produce any effect when preparations were stimulated indirectly at low or high frequency. Hemoglobin did not inhibit the decrease of AMC or the reduction in maximal tetanic tension induced by L-Arg in preparations previously paralyzed with d-tubocurarine and directly stimulated. Since only the presynaptic effects induced by L-Arg were antagonized by hemoglobin, the present results suggest that NO synthesized in muscle acts on nerve and skeletal muscle. Nevertheless, NO produced in nerve and vascular smooth muscle does not seem to act on skeletal muscle.