Diagnóstico molecular da talassemia ALFA+ (DELEÇÃO -3.7) em indivíduos com microcitose e/ou hipocromia

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Polimorfismos de nucleotídeo único (SNPS) dos genes PPARy2, lipase lipoproteica, receptor de LDL, apolipoproteina C3, e adiponectina podem modular o perfil lipídico de pacientes com a síndrome de Berardinelli-Seip

A Síndrome de Berardinelli-Seip (SBS) é um distúrbio raro do metabolismo dos lipídios, caracterizada pela ausência quase total de tecido adiposo subcutâneo, hipertrigliceridemia, hipoleptinemia e diabetes insulino resistente ou lipoatrófico. Sua etiologia envolve implicações hipotalâmicas, alterações nos receptores de insulina e mutações nos genes AGPAT2, Gng3lg, CAV1 e PTRF. O tecido adiposo secreta diversas substâncias, tais como: leptina, resistina, adiponectina, esteróides, TNF , IL-6, PAI-1, angiotensinogênio, IGF-1. Muitas delas estão associadas ao diabetes mellitus tipo 2, obesidade e hipertensão. Os PPARs são fatores transcricionais pertencentes à superfamília de receptores nucleares ligantes ativados. Sabe-se que o PPAR , é importante para o metabolismo lipídico e glicídico e que o ligante natural do PPAR é derivado do ácido graxo. Nesse sentido, foram avaliados 24 pacientes portadores da SBS, provenientes do Estado do Rio Grande do Norte, com a mediana das idades de 18,5 anos (0,55 a 47 a), sendo 9 (37,5 %) do gênero masculino e 15 (62,5 %) do gênero feminino. Quanto ao grupo étnico, foram classificados em caucasóides (brancos) 21 (87,5 %) e negróides 3 (12,5 %) pacientes. Foram feitas avaliações clínico-endocrinológica, bioquímica, hormonal, molecular e o estudo dos polimorfismos Adiponectina ADIPOQ, PPARγ2 Pro12Ala, LPL-PvuII, APOC3-SstI e LDLR-AvaII em portadores da SBS. Nesta população nós não encontramos nenhuma associação de parâmetros lipídicos e glicídicos com os polimorfismos LPL-PvuII, APOC3-SstI e LDLR-AvaII. Porém, observamos associação entre Adiponectina ADIPOQ e PPARγ2 Pro12Ala e níveis lipídicos mais elevados, sugerindo um papel biológico para estes fatores, indicando estudos mais aprofundados

Biodistribuição do fitato de sódio marcado com tecnécio-99m em ratos esplenectomizados

O baço, como maior órgão linfóide do corpo humano, desempenha funções imunológicas relevantes, tais como depuração de bactérias da corrente sangüínea, produção de anticorpos e interação com a função hepática. A esplenectomia tem sido evitada sempre que possível, mas quando realizada pode provocar uma série de efeitos indesejáveis. O radiofármaco 99mTc-fitato é usado no diagnóstico de doenças, especialmente no fígado, através de exames de imagem, na dependência de sua biodistribuição. Algumas drogas e intervenções cirúrgicas podem interferir na biodistribuição de radiofármacos e inexistem na literatura dados sobre efeitos da esplenectomia no metabolismo do 99mTc-fitato. O objetivo do trabalho foi avaliar se a esplenectomia interfere na biodistribuição hepática do 99mTc-fitato e na função do fígado em ratos Wistar. Sob anestesia e técnica asséptica, os animais do grupo SP (n=6) foram esplenectomizados. No grupo C (controle; n=6) os animais não foram operados. Após 15 dias de observação, foi injetado de 0,1ml de 99mTc-fitato via plexo orbital (0,66MBq) em todos os animais. Após 30 minutos, foram retiradas amostras hepáticas para determinação do percentual de radioatividade/grama (% ATI/g), usando-se contador gama Wizard Perkin-Elmer. Realizou-se dosagem sérica de ALT, AST e LDH, e leucometria. Estatística pelo teste t, com significância de p>0,05. Observou-se diferença significativa (p=0,034) comparando-se o %ATI/g no fígado dos ratos esplenectomizados (0,990,2) com os controles (0,400,2). ALT, AST e LDH tiveram dosagens significativamente menores e houve leucocitose nos esplenectomizados (p=0,01), comparando-se com os controles. Concluiu-se que, em ratos, a esplenectomia provavelmente provocou alteração na captação de 99mTc-fitato pelo fígado, coincidindo com alterações na função hepática. A realização deste estudo teve caráter multidisciplinar, envolvendo pesquisadores de diversas áreas como Medicina Nuclear, Cirurgia, Análises Clínicas e Estatística. Este aspecto preencheu os requisitos da multidisciplinaridade do Programa de Pós-graduação em Ciências da Saúde

Avaliação da incontinência urinária de esforço em mulheres na pós-menopausa com e sem queixa de perda urinária através da aplicação do pad-test de 1 hora

Stress urinary incontinence (SUI) is defined as "involuntary loss of urine" due to several processes that alter the ability of the bladder to hold urine properly, regarded as a social and hygienic problem that adversely affects quality of life. In postmenopausal women, IU is associated with atrophy and weakness of the pelvic floor muscles. The objective this study was investigate, using the onehour pad test, stress urinary leakage (SUI), evaluate and compare their results in postmenopausal and premenopausal women. The survey was characterized as a cross-sectional study. The study consisted of 60 postmenopausal women were divided into GIU - consisting of 34 volunteers complaining of involuntary loss of urine during stress - and GSIU - consisting of 26 volunteers without complaints of loss of urine during stress, and 15 women, during the premenopausal (GPM), and ovulatory with normal menstrual cycle. All volunteers were evaluated clinically, subjected to one-hour pad test, after the biochemical evaluation of blood and sex hormones. Statistical analysis was performed by descriptive analysis, ANOVA, Turkey´s post-test and Pearson correlation. The results showed that 100% of postmenopausal patients had involuntary loss of urine during one hour pad test (GIU: 4.0 g; GSIU: 4.5 g). GPM remained continent after an hour pad test (GPM: 0.4 g). In addition, Pearson showed a strong correlation between urine loss with time since menopause (r = 0.8, p <0.01) and body mass index - BMI (r = 0.7; p = 0.01). These data suggest that the one-hour pad test is a useful test to assess and quantify urinary leakage, including those volunteers who had no previous complaint of SUI

Large scale laboratory cultures of Ankistrodesmus gracilis (Reisch) Korsikov (Chlorophyta) and Diaphanosoma biergei Korinek, 1981 (Cladocera)

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

Doença cardiovascular em mulheres com histórico de pré-eclâmpsia e seguimento no sistema único de saúde

The aim of the present study was to analyze cardiovascular risk of women with a history of preeclampsia, as well as its follow-upin the National Health System.This is a cross-sectional quantitative research conducted at the Januário Cicco Maternity School. The study population was composed of 573 women selected from a databank belonging to the Women s Health Research Group of the Gynecology Department at Universidade Federal do Rio Grande do Norte, with a history of preeclampsia, and normotensives who gave birth at this institution five years before. The final sample consisted of 147 women, 64 in the group with a history of PE and 83 normotensives. Data were collected on a questionnaire containing the following: sociodemographic aspects, anthropometric measures, life habits, personal and family history of pregnancy-induced hypertension, family history of cardiovascular diseases and frequency of measuring current blood pressure levels. In relation to the association between cardiovascular risk and altered blood pressure (≥130x85 mmHg), the likelihood of exhibiting the latter condition was significantly higher in women with a history of preeclampsia (CI 95% 4.12-38.92), the overweight and obese (CI 95% 1.70-20.75), and in those with a family historyof CVD and personal history of PIH (CI 95% 0.78-47.07 and CI 95% 3.20-25.39) respectively. Likewise, the probability of having altered blood pressure was higher in women with fasting glycemia ≥100mg/dL (CI 95% 2.09-24.73), as well as in those with triglycerides ≥150mg/dl (CI 95% 1.72-9.66). After fitting the logistic model, diagnosis previous preeclampsia and altered triglycerides remained as explanatory variables.The women with a history of preeclampsia five years before exhibited altered blood pressure levels, clinical and laboratory manifestations suggestive of elevated risk for cardiovascular disease, as well as family and personal history of hypertension. There is no differential treatment or adequate outpatient follow-up for this population in basic health care units

Leukocytes respiratory burst and lysozyme level in pacu (Piaractus mesopotamicus Holmberg, 1887)

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Population growth and development of two species of Cladocera, Moina micrura and Diaphanosoma birgei, in laboratory

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Isolation and characterization of Flavobacterium columnare (Bernardet et al. 2002) from four tropical fish species in Brazil

Flavobacterium columnare é o agente etiológico da columnariose em peixes de água doce, ocasionando enfermidade na pele e nas brânquias, provocando freqüentemente um grande número de mortalidade. O objetivo deste estudo foi o isolamento e a caracterização de Flavobacterium columnare em peixes tropicais no Brasil. Piracanjuba (Brycon orbignyanus), pacu (Piaractus mesopotamicus), tambaqui (Colossoma macropomum) e cascudo (Hypostomus plecostomus) foram examinados externamente com relação a sinais característicos de columnariose, como manchas acinzentadas na cabeça, região dorsal e pedúnculo caudal dos peixes. A amostragem compreendeu a coleta de 50 exemplares de peixes, representando as quatro diferentes espécies escolhidas para este estudo. Amostras para o isolamento foram obtidas através de raspado com swab estéril das lesões e do rim dos peixes clinicamente diagnosticados como acometidos por columnarios e imediatamente semeados em meios de culturas artificiais (líquido e sólido) próprios para o estudo de Flavobacterium segundo Carlson e Pacha (1968). No meio líquido, houve o desenvolvimento de microrganismos que observados em gota pendente apresentaram a forma de bacilos finos, longos, móveis por deslizamento. Através da coloração de Gram, apresentaram morfologia de bacilos finos, Gram negativos, agrupados em colunas. em meio sólido, as colônias eram pequenas, cinza-amareladas, com borda em forma de raiz. No total, foram obtidos quatro isolamentos: 01 cepa de Brycon orbignyanus; 01 cepa de Piaractus mesopotamicus; 01 cepa de Colossoma macropomum; e 01 cepa de Hypostomus plecostomus. A caracterização bioquímica das amostras, como absorção do vermelho Congo, produção de flexirrubina, produção de H2S e redução do nitrato, sugere que os isolamentos poderiam ser classificados como Flavobacterium columnare.

Tratamento de fístulas enterocutâneas através de sistema a vácuo com alta pressão e dieta oral normal

Enterocutaneous fistulas are associated with prolonged hospital stay, high morbidity/mortality, and increase in hospital costs. This study aims to describe the use of a vacuum system and normal oral diet in dealing with this problem. Methods: Seventy-four consecutive patients with recent and defined external postoperative fistulas were analyzed. Abdominal imaging was used to exclude abscess and distal obstruction. The fistula tract was sealed with Foley catheter, connected to a negative pressure flask, changed daily for 5, 10 or 15 days, as necessary. Normal oral diet was permitted. Results: No patient died. Serum albumin and transferrin showed significantly higher levels at the end of treatment than at the beginning. The moderate and low-output fistulas had the best results (97% closed). Forty-eight (65%) fistulas closed after five days, 16(22%) after 10 days and 4(5%) after 15 days. Treatment failed in 6(8%) patients, who subsequently underwent surgery. Only one patient with low-output did not close her fistula. The cost of the treatment was US$ 41.75/day and it was considered cost effective. Conclusions: The vacuum system demonstrated good results in the treatment of fistulas. It included simplicity, low cost, short hospital stay, absence of skin breakdown, normal eating, good nutrition and activity patterns

Segurança e eficácia da tibolona na transição menopausal: um ensaio clínico randomizado, duplo-cego e controlado com placebo

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Consequências da colectomia associada à hepatectomia no metabolismo hepático e na forma e função de hemácias em ratos

This study investigated the influence of partial colectomy associated with hepatectomy on the biodistribution of the 99mTc-phytate, on metabolic parameters, as well as labeling and morphology of red blood cells. Wistar rats were distributed into three groups (each with 6), nominated as colectomy, colectomy+hepatectomy and sham. In the 30th postoperative day all rats were injected with 99mTc-phytate 0.1mL i.v. (radioactivity 0.66 MBq). After 15 minutes, liver sample was harvested and weighed. Percentage radioactivity per gram of tissue (%ATI/g) was determined using an automatic gamma-counter. Serum AST, ALT, alkaline phosphatase and red blood cells labeling were determined. The liver %ATI/g and red blood cells labeling were lower in colectomy and colectomy+hepatectomy rats than in sham rats (p <0.05), and no difference was detected comparing the colectomy and colectomy+hepatectomy groups. Red blood cells morphology did not differ among groups. Serum levels of AST, ALT and alkaline fosfatase were significantly higher in colectomy+hepatectomy than in colectomy rats (p<0.001). Hepatectomy associated with colectomy lowered the uptake of radiopharmaceutical in liver and in red blood cells in rats, coinciding with changes in liver enzymatic activity

Análise das mutações C282Y e H63D no gene da proteína HFE em pacientes com hiperferritinemia

Hereditary Hemochromatosis (HH) is a genetic disease caused by high iron absorption and deposition in several organs. This accumulation results in clinical disturbances such as cirrhosis, arthritis, cardiopathies, diabetes, sexual disorders and skin darkening. The H63D and C282Y mutations are well defined in the hemochromatosis etiology. The aim of this paper was that of identifying the H63D and C282Y genetical mutations in the hemochromatosis gene and the frequency assessment of these mutations in the HFE protein gene in patients with hyperferritin which are sent to the DNA Center laboratory in Natal, state of Rio Grande do Norte. This paper also evaluates the HH H63D and C282Y gene mutations genotype correlation with the serum ferritin concentration, glucose, alanine aminotransferasis, aspartato aminotransferasis, gama glutamil transferasis and with the clinical complications and also the interrelation with life habits including alcoholism and iron overload. The biochemical dosages and molecule analyses are done respectively by the enzymatic method and PCR with enzymatic restriction. Out of the 183 patients investigated, 51,4% showed no mutation and 48,6% showed some type of mutation: 5,0% were C282Y heterozygous mutation; 1,1%, C282Y homozygous mutation; 31%, H63D heterozygous mutation; 8,7%, H63D homozygous mutation; and 3,3%, heterozygous for the mutation in both genes. As to gender, we observed a greater percentage of cases with molecular alteration in men in relation to women in the two evaluated mutations. The individuals with negative results showed clinical and lab signs which indicate hemochromatosis that other genes could be involved in the iron metabolism. Due to the high prevalence of hemochromatosis and taking into account that hemochromatosis is considered a public health matter, its gravity being preventable and the loss treatment toxicity, the early genetic diagnosis is indicated, especially in patients with high ferritin, and this way it avoids serious clinical manifestations and increases patients' life expectation. Our findings show the importance of doing such genetic studies in individuals suspected of hereditary hemochromatosis due to the high incidence of such a hereditary disease in our region

FERRITINA: intervalos de referência para adultos no Estado do Rio Grande do Norte

Ferritin is a protein composed of heavy and light chains, non-covalently linked and which accommodates, in its core, thousands of atoms of iron. Furthermore, this protein represents the stock of iron in the body and it is characterized as an acute marker and predictor of diseases, such as iron deficiency anemia, hereditary hemochromatosis and others. Considering the variability of reference values and the analytical methods currently available, the aim of this work was to propose 95% confidence intervals for adults in the State of Rio Grande do Norte, Brazil, after determining the average concentration of serum ferritin for both sexes, beyond its correlation with the age. We analyzed 385 blood samples, collected by venipuncture from individuals residing in the State, after 12-14 hours of fast. The populational sample had 169 men and 216 women between 18-59 years old, which filled a questionnaire on socioeconomic, food habits and accounts about previous and current diseases. The sample collections were itinerant and the results of erythrogram, fasting glucose, alanine aminotransferase, aspartate aminotransferase, γ-glutamyl transferase, urea, creatinine, leukocyte count and platelets, beyond C-reactive protein, were issued to each participant, so that, after selection of the apparently healthy individuals, the dosage of serum ferritin was carried out. Statistical analysis was performed using the softwares SPSS 11.0 Windows version, Epi Info 3.3.2 and Graf instant pad (version 3.02), and the random population sample was single (finite population), for which the test of linear correlation and diagram of dispersion were also made. After selection of individuals and determination of serum ferritin, the most discrepant outliers were disregarded (N = 358, Men = 154/Women = 207) and the average value determined for the masculine sex individuals was 167,18 ng / dL; for the feminine sex individuals, the average value obtained was 81,55 ng / dL. Moreover, we found that 25% of men had values < 90,30 ng / dL; 50% ≤ 156,25 ng / dL and 75% ≤ 229,00 ng / dL. In the group of women, 25% had values < 38,80 ng / dL; 50% ≤ 65,00 ng / dL and 75% ≤ 119,00 ng / dL. Through the correlation coefficient (r = 0,23 with p = 0,003), it is possible to suggest the existence of positive linear correlation between age and serum ferritin for men. The correlation coefficient for women (r = 0,16 with p = 0,025) also confirms the existence of positive linear correlation between serum ferritin and age. Considering the analysis carried out and specific methods corroborating with the proposed benchmarks, we concluded that the average value found for men is higher than that found for women. Furthermore, this scenario rises with age for both sexes, and the 95% confidence intervals obtained were 74 ng/dL ≤ μ ≤ 89 ng/dL and 152ng/dL ≤ μ ≤183ng/dL for the feminine and masculine sex individuals respectively

Diagnóstico molecular da talassemia ALFA em indivíduos com microcitose e/ou hipocromia

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior