Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE

Background. Gaucher Disease (GD) is a hereditary lysosomal storage disorder characterized by the accumulation of glucosylceramide, mainly in the cells of the reticuloendothelial system, due to a deficiency of the enzyme acid β-glucosidase (GBA). Diagnosis is usually based on measurement of GBA activity in peripheral leukocytes. The purpose of this study was to evaluate the ability of screening for GBA and chitotriosidase activity using Dried Blood Spots on Filter Paper (DBS-FP) to identify individuals at high risk for GD in high-risk populations such as that of Tabuleiro do Norte, a small town in Northeastern Brazil. Methods. Between June 1, 2007 and May 31, 2008, 740 consented residents and descendants of traditional families from Tabuleiro do Norte were submitted to screening with DBS-FP. Subjects with GBA activity <2.19 nmol/h/mL were referred to analysis of GBA and chitotriosidase activity in peripheral leukocytes and in plasma, respectively. Subjects at highest risk for GD (GBA activity in peripheral leukocytes <5.6 nmol/h/mg protein) were submitted to molecular analysis to confirm diagnosis. Results. Screening with DBS-FP identified 135 subjects (18.2%) with GBA activity <2.19 nmol/h/mL, 131 of whom remained in the study. In 10 of these (7.6%), GBA activity in leukocytes was 2.6 5.5 nmol/h/mg protein. Subsequent molecular analysis confirmed 6 cases of heterozygosity and 4 normals for GD. Conclusion. DBS-FP assay was shown to be an effective initial GD screening strategy for high-prevalence populations in developing regions. Diagnosis could not be established from GBA activity in leukocytes alone, but required confirmation with molecular analysis

Consanguinidade e efeito fundador da mutação G377S da doença de Gaucher em população de Tabuleiro do Norte – Ceará – Brasil

Gaucher’s disease (GD) is caused by a β-glucocerebrosidase deficiency, leading to the accumulation of glucocerebroside in the reticuloendothelial system. The prevalence of GD in Tabuleiro do Norte (TN) (1:4000) is the highest in Brazil. The purpose of this study was to present evidence of consanguinity and founder effect for the G377S mutation (c.1246G>A) among GD patients in TN based on enzyme, molecular and genealogical studies. Between March 2009 and December 2010, 131 subjects at risk for GD (GC in dried blood ≤2.19 nmol/h/ml) and 5 confirmed GD patients from the same community were submitted for molecular analysis to characterize the genetic profile of the population. Based on the enzymatic and molecular analysis, the subjects were classified into three categories: affected (n=5), carrier (n=20) and non-carrier (n=111). All carriers were (G377S/wt). Affected subjects were homozygous (G377S/G377S). The identification of a single mutation in carriers and homozygotes from different generations, the history of the community and the genealogy study suggest that the high prevalence of GD in this population may be due to a combination of consanguinity and founder effect for the G377S mutation

Prevalência da infecção por Chlamydia Trachomatis em mulheres atendidas no Programa de rastreamento do câncer de colo do útero

Genital infection with Chlamydia trachomatis is now recognized as one of the most prevalent sexually transmitted infections (STDs). Despite major advances in laboratory diagnosis techniques, primarily the character of asymptomatic chlamydial infection in both men and in women constitutes the basis for the formation of reservoirs that perpetuate transmission and acquisition of this and other STDs. The asymptomatic in women favors the rise of infection to the upper genital tract, causing injuries that can result in infertility. An examination of population screening for early detection and treatment of asymptomatic infections is the key step in combating this major public health problem. The present study aimed to evaluate the prevalence of infection by C. trachomatis in sexually active women attended the screening program for cervical cancer of the uterus in health facilities in municipalities in different regions of the State of Rio Grande do Norte, and identify factors that may contribute to the spread of this pathogen and its relationship with the lesions of the uterine cervix. It is a cross-sectional study aimed at detecting the presence of genital tract infection by C. trachomatis either in isolated form or in association with human papilloma virus (HPV) infection in asymptomatic women. Were included in this study, a total sample of 1,134 women aged 13-76, mean 34.4 years, from March 2008 to September 2012. Specimens containing exfoliated cells of the epithelium of the uterine cervix were analyzed by examining Pap cytology for the detection of possible injuries, and the polymerase chain reaction (PCR) for detection of plasmid DNA from C. trachomatis and HPV. Infection with C. trachomatis was detected with overall prevalence rate of 8.1% in the isolated form and 2.8% in co-infection with HPV. The infection was detected in 7.4% of women with normal cytology 11.5% of those with atypical cells of undetermined significance (ASC-US) and 16.7% of those with low-grade squamous intraepithelial lesion (LSIL). We observed an association between C. trachomatis and incidence of low-grade squamous intraepithelial lesion (LSIL). The genital tract infection by C. trachomatis alone was associated with education level, ethnicity and parity, revealing that women with higher education, those of non-white ethnicity and those who had three or more pregnancies were more likely to acquire infection. Levels very close to statistical significance were observed for chronological age, age at first sexual intercourse and first pregnancy. There was no association with marital status, number of sexual partners. Co-infection with C. trachomatis and HPV was detected in 2.3% of women with normal cytology, who had 5.1% in ASC-US and 10.4% in those with LSIL. No association was found between infection C. trachomatis and increased risk of HPV infection, but women with simultaneous infection by both pathogens showed greater risk for LSIL. Co-infection was more prevalent among single women, who had in the first sexual intercourse under 18 years and those who had two or more sexual partners over a lifetime

Estrutura genética populacional de Lutjanus analis cioba e Lutjanus jocu dentão (Lutjanidae) ao longo do litoral brasileiro

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Níveis de homocisteína e desempenho cognitivo em uma amostra populacional de idosos da cidade do Natal-RN

The imprecision of the frontier that separates those cognitive deficits inherent to the human physiological aging process from those which represent the early signs of nervous system degenerative pathologies ,very prevalent among the elderly, has brought attention to the need of studies aiming to establish clinical and/or laboratorial criteria to allow this differentiation. Elderly people living in poor and developing countries are frequently exposed to precarious socioeconomic conditions which facilitate the development of an array of pathologies which have metabolic and nutritional dysfunctions as the established or proposed etiological agents. The levels of certain micronutrients, such as the vitamins B12 and B9 (folic acid), and of some intermediary metabolites, such as homocysteine are being thought of as etiological factors and/or as biological markers of a group of alterations which affect the normal functioning of the nervous system with important reflexes upon cognitive performance. This study aims to investigate the influence of homocysteine, B12 vitamin and folic acid levels on the cognitive performance of the low income elderly population. This transversal study took place in Natal, Rio Grande do Norte State, Brazil, and involved 205 dwelling elderly people, users of the Programa de Saúde da Família, a public healthcare program, maintained by the city s health authorities. A multidimensional questionnaire was used to assess the socio-demographic aspects and the overall health and nutrition conditions. The cognitive performance was measured by the use of the Portuguese version of the Mini Mental State Exam (MMSE). The serum levels of homocysteine, B12 vitamin and folic acid were determined by chemiluminescence. The association between the socio-demographic and serum levels of Hcy, B12 vitamin and folic acid was determined by multiple linear regression. Serum levels higher than 13.5 μmol/l, indicative of hyperhomocysteinemia (HHcy), were found on 25.4% of the sample, being more prevalent in men (p<0.05). Deficitary levels of folic acid (<5ng/mol) and of B12 vitamin (<193 pg/ml) were found on 3.9% and 10.2% of the sample respectively. A negative correlation was found between cognitive performance with both age and HHcy and a positive correlation was found between cognitive performance and schooling. The isolated HHcy R2 values were an explanation to only 4% of the variance of the MMSE scores. However, when associated with schooling and age, this model explains about 25% of this association

Prevalência e fatores associados da síndrome de Osgood-Schlatter em uma amostra populacional de adolescentes brasileiros

Osgood-Schlatter (O-S) syndrome, a pathology of the musculoskeletal system, exhibits high incidence in adolescence, a phase of accelerated bone growth. Detection of physiopathological mechanisms that may cause disorders and dysfunctions in bone growth must be taken into account when planning physical activities, in order to promote normal physiological growth patterns. The aim of this epidemiological investigation was to identify and analyze the relationships between sociodemographic, anthropometric and clinical aspects and O-S. A cross-sectional design was used, with a representative sample of 956 subjects: 474 (49.6%) males and 482 (50.4%) females. Age range varied between 12 and 15 years (mean = 13.7±1.04). We used a battery of tests, previously applied in a pilot study, which met the aims of the investigation. Descriptive statistics (frequency, mean and standard deviation) were used and the odds ratio was calculated from bivariate and multivariate logistic regression (p<0.05). A prevalence of 9.8% was found (n = 94 cases): 11% males and 8.3% females. Hierarchized multivariate analysis showed a significant association between regular physical activities (OR= 1.94; CI 95%, 1.22-3.10) and shortening of the rectus femoris muscle (OR= 7.15; CI 95%, 2.86-17.86). The results may serve as a basis for therapeutic and prophylactic measures, in addition to increasing our knowledge of this syndrome in Brazilian adolescents. This investigation used a multidisciplinary approach, involving elements of anatomy, nutrition, physical education and physical therapy to elucidate the object under study related to Osgood-Schlatter syndrome

Câncer do colo uterino: rastreamento, marcador biológico e polimorfismo genético

Existem fortes evidências de que os programas de rastreamento baseados em citologia resultaram em diminuição significativa da incidência e mortalidade por câncer do colo do útero, no entanto, um excesso substancial de tratamento de lesões intraepiteliais de baixo grau que dificilmente progrediriam para carcinoma cervical resulta da baixa especificidade do tradicional rastreio citológico. A detecção precoce das lesões através do rastreamento citológico e a avaliação do grau histológico em espécimes cervicais são fundamentais, entretanto não permitem identificar quais pacientes terão maior probabilidade de progressão para lesões de alto grau e carcinoma invasivo. A busca de potenciais marcadores de prognóstico; objetivando o entendimento da progressão das lesões intraepiteliais é de suma importância. Acredita-se que fatores imunoregulatórios, imunogenéticos e proteínas do ciclo celular estejam intimamente envolvidos no processo de carcinogênese. Considerando o exposto, a proposta do projeto foi inicialmente avaliar a eficácia da citologia oncológica no rastreamento do câncer cervical, foi investigado ainda o polimorfismo do gene do fator de transcrição FOXP3 e a expressão da proteína do ciclo celular P63 (P63) associados respectivamente a diagnóstico e prognóstico das lesões cervicais. Em um primeiro momento foi realizado estudo transversal que envolveu 3194 mulheres. As participantes foram submetidas à citologia e biópsia de colo dirigida por colposcopia e os resultados foram comparados para verificar-se a acurácia do teste de Papanicolaou na detecção de lesões intraepiteliais e câncer cervical. Posteriormente, realizou-se estudo comparativo do tipo observacional estratificado em três grupos: Grupo 1: 16 casos com diagnóstico histopatológico de metaplasia/cervicite, considerados normais, Grupo 2: 11 casos com lesão de baixo grau (LSIL) e Grupo 3: 15 casos com lesão de alto grau (HSIL) ou carcinoma epidermoide de colo. Um total de 42 participantes respondeu a um questionário epidemiológico padronizado sobre as características demográficas, hábitos pregressos, história reprodutiva e de comportamento sexual. Após exame colposcópico, foram coletados fragmentos de espécimes cervicais para a pesquisa da expressão proteica da P63 por imunohistoquímica. Amostras de sangue periférico foram coletadas para extração do DNA e detecção do polimorfismo do gene FOXP3. No primeiro estudo em que se avaliou a acurácia do teste de Papanicolaou, encontrou-se sensibilidade de 0,83, valor preditivo positivo (VPP) de 0,77 e especificidade de 0,23 no rastreamento das lesões cervicais e câncer de colo. viii Melhores resultados foram observados quando se avaliou a acurácia diagnóstica para lesões de alto grau e carcinoma com VPP de 0,99 e especificidade de 0,84.No estudo subsequente onde se comparou a expressão da proteína P63 observou-se maior número de núcleos marcados no grupo com lesões intraepiteliais de alto grau e câncer quando comparado ao grupo com biópsias negativas (p=0,0004). No último estudo pesquisou-se a associação do polimorfismo do gene FOXP3 com lesões intraepiteliais cervicais sendo evidenciada maior prevalência do genótipo heterozigoto, CT, no grupo com lesões de colo na histopatologia (p=0,027). Mulheres com lesões intraepiteliais de baixo ou alto grau e câncer de colo de útero apresentam maior expressão da proteína P63 e maior prevalência de genótipo heterozigoto do gene FOXP3 em comparação com as sem lesões cervicais. A associação da pesquisa da expressão da proteína e do polimorfismo do gene pode tornar os exames utilizados atualmente para a avaliação diagnóstica e prognóstica das lesões de colo uterino mais efetivos em detectar quais as mulheres com maior risco para progressão para câncer

Impacto da atividade física na qualidade de vida em mulheres de meia idade: estudo de base populacional

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Envelhecimento populacional: um diagnóstico dos idosos institucionalizados, em Natal/RN

The aging process lived by the Brazilian population concurred to the transformation in the family models, causing difficulties related to the elderly care on the Family environment, a fact that is one of the main reasons for their institutionalization. Facing this scenario, the need of investigating how the elderly lives on the long-term facilities (ILPI) has aroused. In this study, it has been conducted an analysis of the populational aging process, contrasting the Rio Grande do Norte to Brazil and the Northeast Region, between 1980 to 2010. Faced with the realization of this process, and the rising number of long-term facilities for the elderly (ILPI), it was needed to make a rescue of the abiding laws regarding elderly institutionalization, on the scope of Natal, which surged after the 1988 Federal Constitution, checking what were the impacts on the assistance of the institutionalized elderly. Lastly, it were investigated the possible determinants associated with the institutionalization, in Natal-RN, considering the aspects of the family structure, family relationship, economic, health and well being of the elderly. The results showed that Rio Grande do Norte, particularly Natal, follows the national scene, since between 1980 and 2000 its population passed the intermediate level in the process of population aging for, in 2010, to be considered elderly. Throughout this process, it was observed that Natal has been adapting to the federal legislation, through the creation of the municipal policy, City Council and other relevant standards for the elderly, promoting significant changes in ILPI.However, philanthropic institutions needs better resources for their maintenance. In research with the elderly, it was found that although the majority of the elderly have declared themselves satisfied with life, they had indicators of impairment of functional capacity and cognitive, isolated social behavior and depression, affecting the life quality of these elderly. These results reflect the need for greater investment of public power in the drafting, implementation and monitoring of public policies aimed at promoting changes that raise the level of life quality of this segment of the population

Estrutura genética populacional de Heliconius erato e Heliconius melpomene (Lepidoptera: Nymphalidae) em fragmentos de Mata Atlântica do Rio Grande do Norte

Extensive studies using molecular markers on butterflies have shown how a highly fragmented landscape may result in the reduction of gene flow among patches of habitat and, consequently, increase genetic differentiation among populations. However, little is known about Heliconius geographical structure and the effects of fragmentation on the connectivity of populations. Furthermore, findings on the effects of the population structure on the dynamics of mimicry evolution in Heliconius butterflies need to be tested in H. erato and H. melpomene specimens found in other locations other than Central and northern South Americas. For the present study, we had two motivations: (1) compare the population structure of H. erato and H. melpomene given the highly fragmented Brazil s Atlantic Forest habitat; and (2) studying population structure of co-mimics could give us insights into the dynamics of mimicry evolution. For this, we analysed the spatial structure and connectivity of eight populations of Heliconius butterflies, in a total of 137 H. erato specimens and 145 H. melpomene specimens, using nine microsatellites loci, 1144 AFLPs markers and 282 mitochondrial DNA sequences. In general, both species exhibited evidence of population subdivision but no isolation by distance indicating some extent of genetic differentiation among populations. Contrary to Kronforst & Gilbert s (2008) Costa Rican Heliconius, H. melpomene exhibited more genetic differentiation than H. erato based on nuclear markers. However, for mitochondrial DNA, H. erato populations showed more genetic differentiation than H. melpomene. Our results corroborate to other studies on Heliconius butterflies concerning the pronounced population subdivision and local genetic drift found in this genus. Nevertheless, the pattern of this differentiation varies significantly from the pattern found in studies conducted in Central America, where H. erato is generally more differentiated and structured than H. melpomene, based on nuclear markers. This different pattern may reflect different evolutionary histories of Heliconius species in Northeastern Brazil s Atlantic Forest

Biologia populacional comparada de duas espécies de heliconius (Lepidoptera: Nymphalidae) em um ambiente sazonal de floresta atlântica do nordeste brasileiro

Tropical environments often face strong seasonal variations in climate, such as alternate periods of dry and rain, that may often be important influence in the annual X the organisms lives. Here we assess how population dynamics of two butterfly species (Heliconius erato and Heliconius mepomene) respond to environmental and seasonal variations. A mark-release-recapture study carried out in an Atlantic forest reserve, 15 Km from Natal, Rio Grande do Norte, Brazil, for 3 years, during the dry and rainy season, with three visits weekly done. Information such as species, wing lenght, site of capture, pollen load and phenotype (number of spots) (in H. erato only) were noted for each capture. Seasonal variation exists in capture rates of the two species, with great capture rates during the rainy season. Despite finding differences in the mean density of individuals of the two species among the different collection areas, this difference was only significant between floodplain and central areas, and no influence of seasonality was observed in the mean density between the areas. Seasonality in wing size was only observed for H. erato, with larger wings during the rainy season. Females carried larger pollen loads than males both species, but species were similar. Only males differed seasonally, with larger pollen loads during the rainy season. The distribution of the number of wing spots did not vary between the dry and rainy seasons, and the number of spots in males and females was similar. Therefore, we conclude that there was a strong influence of seasonal variation in the population dynamic of the two Heliconius species, as well as in several aspects of their biology

Estrutura populacional e aspectos reprodutivos do Octopus insularis Cephalopodas: Octopodidae: implicações para o manejo da pesca de polvo no município de Rio de Fogo-RN

In northeastern Brazil, Octopus insularis is the most commercially important cephalopod species and its capture has been performed for several years by the lobster fishermen in the region. In order to obtain information about the reproductive biology, 1108 specimens were collected between November 2009 and September 2011 in the landings and fish markets of Rio do Fogo (RN). For each specimen the mantle length (CM) and total fresh weight (PT) were recorded. Gonads of 264 males and 295 females were examined macroscopically and histologically to assess sexual maturation and determine reproductive indices. Four reproductive stages were determined for males (immature, maturing, mature and post-mature) and females (immature, early maturing, late maturing and mature). The average of eggs recorded in the female s gonads was 93.820 and 39 was the average of spermatophores found in male Needham s complex. Spermathecae with sperm were found in females with 69 mm CM (immature). Males and females become sexually mature at 64.41 and 98.50 mm of CM, respectively. The weight at sexual maturity was 270 g for males and 630 g for females. The values of the size and weight at sexual maturity found in this study show that males mature at smaller sizes than females. For both sexes the maturation peaks occurred in February and November 2010 and also in September 2011. The periods of maximum reproductive activity lasted about 3 months and it seems to occur every 7 10 months. Only one spent female (stage V) was found and the number of mature females was low. Presumably, mature females migrate to deep waters with complex habitat to protect the offspring, indicating that fishery by snorkeling with maximum depth of 15 meters is not reaches this part of the stock. Finally, it is noticeable the importance of the establishment of management strategies for the exploitation of O. insularis different of the ones used for O. vulgaris, once the species have distinct biological features

Sobrevivência e tamanho populacional do Tiê-preto Tachyphonus Rufus (aves: thraupidae) em fragmento de restinga no extremo Norte da Mata Atlântica

For a long time, we believed in the pattern that tropical and south hemisphere species have high survival. Nowadays results began to contradict this pattern, indicating the need for further studies. Despite the advanced state of the study of bird population parameters, little is known about their variation throughout the year and the factors affecting them. Reproduction, for example, is one factor that may alter adult survival rates, because during this process the breeding pair allocates resources to maintain itself to maintain offspring, making itself more susceptible to diseases and predation. The aim of this study was to estimate survival and population size of a Central and South America passerine, Tachyphonus rufus (Boddaert, 1783), testing hypotheses about the factors that define these parameters. We performed data collection between Nov/2010 and ago/2012 in 12 ha plot, in a fragment of Atlantic Forest in northeastern Brazil. We used capture-mark-recapture methods to generate estimates using Closed Design Robust model in the program MARK. We generated Multi-state models to test some assumptions inherent to Closed Robust Design. The influence of co-variables (time, rain and reproductive cycle) and the effect of transient individuals were measured. Capture, recapture and apparent survival parameters were defined by reproductive cycle, while temporary dispersal was influence by rain. The estimates showed a higher apparent survival during the non-breeding period (92% ± 1%) than during breeding (40% ± 9%), revealing a cost of reproduction and suggesting a trade-off between surviving and reproducing. The low annual survival observed (34%) did not corroborate the pattern of high rates expected for a tropical bird. The largest population size was estimated to be 56 individuals in Nov/11, explained by high recruitment of juveniles, while the lowest observed in May/12: 10 individuals, probably as a result of massive influx of competitor species. Results from this study add to the growing literature on life history of Neotropical species. We encourage studies like this especially in Brazil, where there are few information, and suggest that covariates related to habitat quality and environmental changes should be tested, so that we can generate increasingly reliable models

Sobrevivência de adultos e estimativa populacional da guaracava-de-topete-uniforme elaenia cristata (aves: tyrannidae) em fragmento de mata atlântica no Nordeste do Brasil

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Acurácia do teste de labirinto no rastreamento de déficits cognitivos em idosos

This study intended to evaluate the maze test accuracy in cognitive deficit screening in elderly with or without neuropsychological pathology. The sample included 40 healthy young (18-25 years old; mean- 21 ± 1.6), 40 healthy old (60-77 years old; mean- 67 ± 5.1) and 18 patients with probable diagnosis of Alzheimer s disease initial stage (52-90 years old; mean- 78 ± 9.2). Data analysis was made using Anova with Tukey s post hoc, multiple linear regression analysis and ROC curve analysis. According to Tukey s test Alzheimer patients spent more time (46843 ± 37926 ms) to execute the test than healthy young (5482 ± 2873 ms; p= 0.0001) and elderly (17978 ± 13700; p= 0.0001); healthy young executed test n lower time (p= 0.035). According to the regression analysis of age, education level and cognitive performance of the three groups, the cognitive performance was the predictor of the execution time. When analyzing young and elderly only age was the predictor and the cognitive performance was the only factor to influence the test of old aged healthy and patients. The ROC curve analysis indicated 72% accuracy for young and elderly and 36% for healthy and elderly patients. The maze execution time represented a better balance between sensibility (75%) and the specificity (61%) was near 13575 ms, indicating that those subjects that execute the maze in a time higher to this value may show cognitive deficit related to the executive function. According to the results it is suggested that the maze test used in this study shows a good accuracy in the cognitive deficit tracking and may discriminate age changes