Estudo genético-clínico de mucopolissariodoses no estado do Ceará

As mucopolissacaridoses (MPS) são doenças genéticas raras decorrente da deficiência de enzimas lisossomais envolvidas no catabolismo de glicosaminoglicanos, resultando em um amplo espectro de manifestações clínicas, progressivas e multissistêmicas, exigindo tratamento por uma equipe multidisciplinar. Embora o Nordeste brasileiro seja uma região com grande taxa de consangüinidade e um efeito fundador envolvendo MPS, não há estudos caracterizando os pacientes dessa região. Nosso objetivo foi determinar o perfil epidemiológico, clínico e genético de casos não publicados com MPS provenientes do Ceará, identificando as diferenças entre outros estudos com MPS e possíveis problemas a serem enfrentados para a realização do diagnóstico precoce. O estudo foi seccional, descritivo, com amostra de pacientes com MPS em acompanhamento no Hospital Infantil Albert Sabin e Hospital Geral Cesar Cals no período de 2006-2013. Os dados foram obtidos a partir da avaliação clínica, revisão de prontuários médicos e entrevista com os pacientes e/ou familiares realizadas pelo investigador principal. Cinquenta e três pacientes foram incluídos no estudo (36 do sexo masculino), sendo 6 MPS I, 17 MPS II, 7 MPS III (3 MPSIII-A, 3 MPS III-B, 1 MPS III-C), 7 MPS IV-A, 16 de MPS VI. O óbito ocorreu em 16 casos (3 MPS I, MPS II 6, 1 MPS IIIA , IIIB 1MPS , 1 MPS IV , 4 MPS VI). A amostra foi composta principalmente por crianças. Houve elevada taxa de consangüinidade e recorrência familiar. Os tipos mais comuns foram MPS II e MPS VI. Exceto para macrossomia em MPS II, os dados de nascimento indicam que não houve risco para desenvolvimento de viii complicações perinatais. Os sintomas iniciaram em crianças com menos de 2 anos. As manifestações clínicas foram heterogêneas exceto para atraso no desenvolvimento neurológico em MPS III e manifestações esqueléticas em MPS IV. As principais características clínicas foram macrocefalia, baixa estatura, alterações odontológicas, respiratórias, cardíacas, hepatoesplenomegalia, hérnia umbilical, rigidez articular e anormalidades esqueléticas. A terapia de reposição enzimática foi instituída em 26 casos (4 MPS I, 10 MPS II, 12 MPS VI). Os problemas sócio-econômicos das famílias, o amplo espectro de sintomas e a gravidade da doença foram causas das dificuldades em realizar a avaliação periódica pela equipe multidisciplinar, além de exames complementares de maior custo para determinar as complicações da doença. Este foi o maior estudo transversal sobre MPS no Nordeste do Brasil. Em contraste com a maior incidência de MPS I na maioria das populações ocidentais, houve maior incidência de MPS II e VI. As alterações respiratórias foram um dos principais contribuintes para a mortalidade precoce, exceto nos casos de MPS I, em que a cardiomiopatia foi prevalente. A menor expectativa de vida ocorreu em MPS I. O envolvimento cognitivo foi comum em casos graves e o maior número de órgãos envolvidos representou maior risco de morrer. Para o diagnóstico precoce, deve-se buscar indivíduos afetados em famílias em que há parentes com MPS, além do maior reconhecimento de sinais e sintomas de MPS por profissionais de saúde

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

Qualidade de vida do servidor da Universidade Federal do Rio Grande do Norte em condição crônica de saúde

The study aimed to analyze the influence of chronic health conditions (CHC) on quality of life (QOL) of UFRN servers assaulted by CHC. It is a descriptive and cross-sectional study with prospective data and quantitative approach, accomplished in the ambulatory clinic of the Department of Server Assistance (DSA) of the Pro-Rectory of Human Resources, during three months. The sample was composed by accessibility, totaling 215 people, being 153 active and 62 inactive servers, in chronic health condition. The data were collected through the application of the sociodemographic characterization, health, environmental and laboral form, the Medical Outcome Study 36-Item Short Form (SF-36). The study was evaluated by the HUOL Ethics Committee (CAAE no. 0046.0.294.000.10), obtaining assent. The results were analyzed in the SPSS 15.0 program through the descriptive and inferential statistics. It was identified servants predominantly male (59,1%), under 60 years old, married or in stable union, Catholics, brown color, living in the capital and residents in own home. Regarding labor issues, there was a predominance of active servers technical-administrative with intermediate and medium level positions and small proportion of docents. Among the CHC, the non-communicable diseases - NCDs (95.8%) had a higher frequency, followed by persistent mental disorders - PMDs (18.6%) and, finally, the continuous and structural physical deficiency - CSPD (16.9 %). The QOL of servers was considered good, with a mean score of 72.5 points in the total score, with the most affected domains: physical (59.1), general health (66.2), bodily pain (66.3) and functional aspects (72.0). The mental health dimension (76.5) had a better average than the physical dimension (68.0 points). It was found that the decrease in QOL scores is significant statistically related to higher number of CHC (ρ <0.001), with no statistical significance regarding the functional situation (p = 0.259). The administrative technicians of elementary, primary, secondary levels and docents had the worst QOL scores. After the correlation analysis of CHC with the domains and dimensions of the SF-36, there was statistically significant, negative and weak correlation of the domains: functional aspect (ρ = 0.002, r = -0.207), physical aspects (ρ = 0.007; r = -0.183), vitality (ρ = 0.002, r = -0.213), social function (ρ = 0.000, r = -0.313), emotional aspects (ρ = 0.000, r = -0.293), mental health (ρ = 0.000 , r = -0.238), physical health dimension (ρ = 0.002, r = -0.210) and mental health dimension (ρ = 0.000, r = -0.298). The presence of PMD isolated or together, contributed to a lower SF-36 scores, being the domains variation of mean significant, except for bodily pain, general health and physical aspects. By correlating the categories of CHC and QOL, there was a weak correlation (r ≤ -0.376) and significant (ρ ≤ 0.011), mainly related to the NCD, PMDs and NCD + PMD, affecting the mental health, social function, emotional aspects, vitality and functional aspect domains. Front of the results, it was concludes that the servers quality of life is influenced by the CHC. Thus, it was inferred that the presence of CHC causes a negative effect on quality of life, leading the active and inactive servers to exposure their overall life activities and work over the years, due to the morbidity affected, mainly related to NCDs and PMDs. Descriptors: Quality of life. Chronic disease. Occupational Health. Nursing

Efeito positivo da suplementação de zinco no crscimeto, GH, IGF-1 E IGFBP-3 em crianças eutróficas

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Microsatellite analysis of pacu broodstocks used in the stocking program of Paranapanema River, Brazil

O monitoramento da diversidade genética é fundamental em um programa de repovoamento. Avaliouse a diversidade genética de pacu Piaractus mesopotamicus (Holmberg, 1887) em duas estações de piscicultura em Andirá -Paraná, Brasil, utilizadas no programa de repovoamento do Rio Paranapanema. Foram amplificados seis loci microssatélite para avaliar 60 amostras de nadadeira. O estoque de reprodutores B apresentou maior número de alelos e heterozigose (alelos: 22 e H O: 0,628) que o estoque de reprodutores A (alelos: 21 e H O: 0,600). Alelos com baixos níveis de frequência foram observados nos dois estoques. Os coeficientes positivos de endogamia no locus Pme2 (estoque A: F IS = 0,30 e estoque B: F IS = 0,20), Pme5 (estoque B: F IS = 0,15), Pme14 (estoque A: F IS = 0,07) e Pme28 (estoque A: F IS = 0,24 e estoque B: F IS = 0,20), indicaram deficiência de heterozigotos. Foi detectada a presença de um alelo nulo no lócus Pme2. As estimativas negativas nos loci Pme4 (estoque A: F IS = -0,43 e estoque B: F IS= -0,37), Pme5 (estoque A: F IS = - 0,11), Pme14 (estoque B: F IS = - 0,15) e Pme32 (estoque A: F IS = - 0,93 e estoque B: F IS = - 0,60) foram indicativas de excesso de heterozigotos. Foi evidenciado desequilíbrio de ligação e riqueza alélica baixa só no estoque A. A diversidade genética de Nei foi alta nos dois estoques. A distância (0,085) e identidade (0,918) genética mostraram similaridade entre os estoques, o qual reflete uma possível origem comum. 6,05% da variância genética total foi devida a diferenças entre os estoques. Foi observado um recente efeito gargalo nos dois estoques. Os resultados indicaram uma alta diversidade genética nos estoques de reprodutores e baixa diferenciação genética entre eles, o que foi causado pelo manejo reprodutivo das pisciculturas, redução do tamanho populacional e intercâmbio genético entre as pisciculturas.

Projeto Prevenir: uma pesquisa acerca das mudanças no perfil das infecções por DST/AIDS, com a perspectiva de detectar pontos vulneráveis da prevenção

Rio Grande do Norte is among the Brazilian States where the tourism and sexual violence increasingly grow in the country, occupying 4th place in 2004. Associated to this fact, it comes the problematic one of the contamination of the women by Sexually Transmitted Disease (STD). Studies in Brazil have presented a considerable increase of the STDs, caused through lack of suitable protection in the sexual relationships. Due to the biological and psychosocial vulnerability, besides failures or inconsistencies in the condom use associated to the raised taxes of sexual activity with different partners, the STDs constitute the main risk of health. Many difficulties are found by the confrontation of this problem. In this context, this project had as aim to evaluate the vulnerability of this population of sexually active women in Natal-RN Ponta Negra neighbourhood to the infections by STDs, such as, Candida sp., Vaginoses Bacterial, Trichomonas Vaginalis and Chlamydia sp., arisen with the explosion of the sex market, showing a current statistical panorama. It was possible to detect vulnerable points in prevention through patient anamnesis, where the study it showed: high number of partners (8,3% with more than five), low age of first relationship and not the use of condoms (31,8% sometimes use and 45,8% had not used in the first relationship). Already consolidated by the preventive cytopathologic examination, these data were strengthened by high incidence of causing agents of STDs (58,6%). In this way, it is clear that the sexuality must to be thought on the context of the deep economic and socio-cultural transformations in which pass societies, and mainly the ones concerning to the sexuality exercise and to the sex market. With the profile change of the infections, new demands are placed in relation to the risk factors. Therefore, it can be concluded that the prevention vulnerable points detected as more important had been the deficiency in self-perception and wareness of the risk existence among the studied women

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

Osteopenia diabética e pós-menopausa: efeito metabólico do zinco na recuperação do volume ósseo trabecular

Diabetes mellitus has been associated with bone metabolism alterations, such as osteopenia and osteporosis. So, the search of new anabolic agents promote bone mass gain can be important to prevent osteoporosis. The aim of this study was evaluate zinc anabolic effect over bone in diabetic and post-menopausal osteopenic models. Diabetes was induced by STZ (45mg/Kg of body weight) administration and post-menopausal by bilateral ovariectomy. Adults female Wistar rats (n=65) were divided in 5 groups: control group (n=15), ovariectomized without (n=15) and with zinc supplementation (n=10) groups, diabetic and ovarioctomized without (n=15) and with zinc supplementation (n=10) groups. Studied periods had been untill 90 days. Diabetic condition was confirmed hiperglicemic state and alterations of state with polyuria, polyphagia, polydipsia and glucosuria. Histomorphometric analysis showed that zinc supplementation increased trabecular thickness and reduced trabecular distance significantly in diabetic groups with similar values to those showed in control group. Correlation analysis of histomorphometric parameters with serum glucose concentration showed that more time in hyperglycemia more bone damage, as well as, zinc supplementation contributed to prevent this damage. Elevated serum glucose caused hyperzincuria, phosphaturia and calciuria. Zinc supplementation promoted increased levels of calcium and phosphorous ions in 90th days diabetic group. No alteration was observed by ovariectomy in mineral (Ca, P and Zn) serum and urine concentrations. Total serum Alkaline Phosphatase activity increased in diabetic groups, supplemented or not, compared with control group. However, Tartarate-Resistant Acid Phosphatase, magnesium and serum zinc did not altered in studied groups. Serum albumin was reduced only in diabetic groups. Serum creatinine was unaltered. These results support the hypotesis that zinc can be used to prevent and treat diabetic and post-menopausal osteopenia

Influência do tratamento com ácido lipoico sobre o metabolismo ósseo e perfil antioxidante de mulheres na perimenopausa

Bone is a dynamic tissue that is in constant process of remodeling in response to mechanical stress and hormonal changes. This study aimed to understand the relationship between the biochemical changes, which women in the menopausal transition are subject to, and how the use of an alternative therapy with lipoic acid (LA) could influence these changes. The study of double-blind, was carried out in perimenopausal women that underwent a three month treatment with 600 mg of AL compared with another group that received placebo during the same period. This study showed that women had a waist circunference and body mass index above the values recommended by WHO (WC ≥ 80 cm; BMI > 25kg/m2). Associated with this, these women had increased concentrations of total cholesterol and triglycerides, and borderline LDL (Total Cholesterol > 200mg/dL; Triglycerides > 150mg/dL; LDL >130mg/dL). These changes were not affected by treatment with AL. There were no shifts in liver profile (ALT, AST and GGT), kidney profile (urea, creatinine, total protein and albumin), mineral profile (Total Calcium, Ionized Calcium, Phosphorus and Magnesium) as well in bone markers (osteocalcin, Total Alkaline Phosphatase and Tartrate Resistant Acid Phosphatase) after treatment with LA. The results of the oxidative profile showed that treatment with LA decreased GPx activity (p < 0,01), while for the TBARS, GSH and SOD activity there were no differences. With regard to SOD, this enzyme will submit to be high in the placebo group after 3 months of study (p<0,05). The expression of RANKL mRNA was reduced (p < 0,05) and of RANK increased (p <0.001), after treatment with LA, while the expression of IL-6 and TNF-ɑ genes were no changed. We conclude that women already in the perimenopause stage have changes in lipid profile and body composition that could induce shifts in oxidative and bone metabolism. However, LA treatment has provided an effective effect in the oxidative and bone profile since the earliest markers such as GPx activity and mRNA expression of RANKL, respectively, were reduced associated with no change in SOD activity. These results suggest a beneficial and protective effect of LA, indicating it potential as an alternative treatment to help the to prevent the complications associated with estrogen deficiency

Períodos de interferência das plantas daninhas na cultura da cana-de-açúcar: I - Tiririca

Com o objetivo de estudar períodos de interferência entre plantas daninhas e a cultura da cana-de-açúcar, foi instalado um experimento no município paulista de Pradópolis, numa área pertencente à usina São Martinho, onde a cana-deaçúcar foi plantada no mês de abril de 1995 e colhida quinze meses depois. As condições climáticas no estado de São Paulo após o plantio deste experimento (época normal de plantio da cana-de-açúcar no estado de São Paulo) são caracterizadas por deficiência hídrica e temperaturas amenas, sendo que o períodos chuvoso iniciou-se apenas quatro meses após o plantio. O resultados obtidos no experimento permitiram concluir que a cana-de-açúcar suportou um pequeno período de convivência inicial, de zero aos 41 dias após o plantio (DAP), sem sofrer interferência significativa de diminuição da produção. No entanto, o controle da tiririca por um período curto (dos aos 22 dias após o plantio da cana-de-açúcar foi suficiente para assegurar a produção.

Períodos de interferência das plantas daninhas na cultura da cana-de-açúcar: III - capim-braquiária (Brachiaria decumbens) e capim-colonião (Panicum maximum)

Um experimento foi conduzido em São João da Boa Vista-SP, com o objetivo de determinar o período anterior à interferência (PAI) e o período total de prevenção à interferência (PTPI) das plantas daninhas na cultura da cana-de-açúcar. A cana foi plantada em abril de 1995, na época de plantio caracterizada por maior deficiência hídrica. A comunidade infestante presente foi variada, sendo Brachiaria decumbens e Panicum maximum as espécies mais importantes. Essa comunidade tendeu a apresentar acúmulo crescente de matéria seca durante todo o período de avaliação e reduziu em até 40% a produtividade de colmos da cana-de-açúcar. A cultura conviveu com a comunidade infestante até 74 dias após o plantio, sem sofrer redução significativa na produtividade (PAI). O período mínimo de controle para garantir a produtividade foi de 127 DAP (PTPI). Dessa forma, o controle das plantas daninhas foi crítico no período compreendido entre 74 e 127 dias após o plantio.

Períodos de interferência das plantas daninhas na cultura da cana-de-açúcar: II - capim-braquiária (brachiaria decumbens)

Um experimento foi conduzido em Olímpia-SP, com o objetivo de avaliar os efeitos de períodos de convivência e controle das plantas daninhas na produtividade da cultura da cana-de-açúcar. A cana foi plantada em maio de 1995, sendo colhida 15 meses após; a cultura anterior havia sido pastagem de Brachiaria decumbens e, em conseqüência, esta espécie foi a principal planta daninha presente na área experimental. Essa época de plantio é caracterizada por grande deficiência hídrica; mesmo assim, a população de B. decumbens tendeu a apresentar acúmulo crescente de biomassa seca durante todo o período de avaliação. Esse comportamento proporcionou intensa interferência na cultura da cana-de-açúcar, ocasionando 82% de redução na produtividade de colmos. A cultura pôde conviver com a comunidade infestante até 89 dias após o plantio (DAP), sem sofrer redução significativa na produtividade. O período mínimo de controle, para assegurar a máxima produtividade, foi de 138 DAP. Dessa forma, o controle das plantas daninhas foi crítico no período compreendido entre 89 e 138 DAP.

Resposta de brócolis, couve-flor e repolho à adubação com boro em solo arenoso

Foram avaliados em condições de campo, em solo arenoso, com baixo teor de boro, os efeitos da adubação com cinco doses de boro (0; 2; 4; 6 e 8 kg ha-1 de B na forma de bórax) na produção de brócolis, couve-flor e repolho. O experimento obedeceu a um esquema fatorial com delineamento experimental de blocos ao acaso com três repetições. As adubações orgânica e química, inclusive o bórax, foram feitas no sulco antes do transplantio das mudas e a colheita foi feita entre 63 e 93 dias após o transplantio. A produtividade de brócolis variou de 16,9 a 20,5 t ha-1; a de couve-flor de 21,6 a 29,6 t ha-1 e a de repolho de 40,5 a 46,4 t ha-1. O aumento observado na produtividade de brócolis e de repolho foi linear e o efeito das doses de boro na produtividade de couve-flor foi quadrático, sendo necessários 5,1 kg ha-1 de B para atingir a produtividade máxima de 30 t ha-1. Brócolis e repolho mostraram-se menos sensíveis do que a couve-flor tanto à deficiência quanto ao excesso de boro. No caso da couve-flor, com a aplicação de 2 kg ha-1 ou de 6 kg ha-1 de B houve significativa perda de qualidade do produto.

Avaliação de efetividade do centro de reabilitação de adultos - CRA/NATAL/RN

Public services with an emphasis on rehabilitation treatment of disabled people, as established law, have aimed to ensure quality and equity assistance in a rehabilitation way to the segment highlighted. As for people with physical disabilities, the Unified Health System (hereby SUS) through the directive GM/ MS No. 818 of 2001, requires the creation of hierarchical and regionalized services networks at different levels of complexity to ensure appropriate assistance. This study whose title is Evaluation of effectiveness of the Adult Rehabilitation Center in Rn: elements for a discussion aimed to evaluate the effectiveness of rehabilitation services that institution, reference in the State of Rio Grande do Norte, has directed its patients, more specifically those who have had a stroke and therefore are disabled ones. From the standpoint of methodological conduction, it was prioritized a qualitative and empirical theoretical research which was carried out from the following courses: literature references with authors who are the themes pertaining to rehabilitation, inclusion, public policy evaluation, health policy and disability; documentary research through Regulation of Technical Procedures, files, records, informative booklets that were of great importance to the knowledge of the institution, as well as its functioning and dynamics of field research that was materialized with the managers, rehabilitation staff and Center s users, through the application of semi-structured interviews as a tool for data collection. The information obtained was analyzed from the critical analysis of discourse. As a result, it was identified some technical, administrative and financial difficulties which have obliterated the effectiveness of services provided, such as: lack of many professionals to meet existing demand, poor quality of equipment and the physical structure, limits on autonomy management as a result of dependence along with the SESAP/RN; besides the excessive bureaucratization in the administrative processes compromising Center s problem-solving needs. However, in the narratives of managers, rehabilitation staff of patients, despite the difficulties, treatment made by Centre has effectiveness to the extent that has been contributing even in a limited way to improve their quality of life