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

A busca de sintomáticos respiratórios de tuberculose na prática e perspectiva do agente comunitário de saúde nos distritos sanitários de Natal

The objective of this work - which is characterized analyze the search for symptomatic tuberculosis in practice and perspective of the Community Health Agent (ACS) in the districts of Natal. Methods: This is a cross-sectional study. The study population was 646 professionals, and conducted a probabilistic random sampling, stratified by districts. The data were collected from one instrument to collect data based on Primary Care Assesment Toll (PCAT) and analyzed by descriptive statistics. The sample consisted of ACS was 87% female. Among the study participants 58% completed high school and 120 months of exercise training (95% CI 111.9 to 129.5) on average. 90% were USF. The average follow-up of cases found were 2 cases of TB since the beginning of the career of the ACS and the last three years the average is presented in a case accompanied. The ACS received satisfactory ratings on the bond of trust with the user, so as access to homes in the community. The ACS reported for denying the fear of being positive result was the biggest reason for not performing the sputum. All units have a professional that responds to the Tuberculosis Control Program. Regarding the structural capacity of primary care settings for the diagnosis of TB, we observed satisfactory levels in different districts of pots for sputum collection, however, a point that deserves attention from managers is lack of materials for packaging sputum. Fear of positive result was one of the reasons for the refusal of sputum collection, followed by alcoholism. With regard to TB suspects, all responded that ACS always suspect when the user has TB coughs, but in all districts were noticed at low delivery of requests for applications for smear. BSR in TB control, is characterized in practice as a complex action goes beyond technical expertise and contact with the family that breaks with the Cartesian. The BSR is part of the ACS can perform them from the daily visits. We conclude that the ACS is difficult to achieve. This practice should not be the privilege of this actor, but the entire team of primary care. We must rethink the practices of TB care, seeing the health surveillance while aegis of the working process of primary care teams for early diagnosis and thereby reduce TB in communities

A pessoa idosa com doença crônica não transmissível atendida em serviços de média complexidade na cidade de Natal/RN

The demographic and epidemiological transition process caused by a declining in birth rates and in mortality, also changes occurred in morbidity and mortality is represented by the increasing of the aging population and the raising of chronic diseases. These diseases are characterized by multiple etiologies, risk factors, long latency period, a prolonged evolution, non-infectious origin and it has association with functional impairment and disability. Thus, elderly with chronic non-communicable disease has priority because they belong to a vulnerable group to get affection of comorbidities in aging, with increased demand and spending on health services. This study is aimed to analyse the understanding of elderly people with chronic non comunicable disease in the medium complexity service as a contribution to the improvement of health care in the city of Natal / RN. This is a descriptive and exploratory study with a quantitative approach, carried out at the Specialized Center for Elderly Health Care and at the Pescadores Hospital. The population was composed of 4,180 persons with a sample of 124 elderly aged above 60 years, attended in these medium complexity services. The instrument, a structured form, adapted from a questionnaire for monitoring risk and protective factors for chronic disease of the Ministry of Health. To collect data was was used the interview form containing demographic data, habits, health status and health care services. The results were processed using the Statistical Package for Social Science, version 18.0, analyzed by simple statistics. It was found that most seniors were female, predominantly between 70 and 74 years old, married, with a brown skin tone and Catholic religion, more than half had incomplete basic education, family income between one to two minimum wages and living with their families. Regarding the interviewers lifestyle, 94.4%, of them ate chicken and 97.6%, fruits, it was observed a reduction in smoking, alcoholism habits and physical activity according to the increasing age, 58.1 and 18.5% had insomnia18,5 % used sleeping pills. The elderly (51.6%) reported using services in times of sickness, seeking primary care at first (30.6%), 52% did not receive referral and was looking for free demand (38.7%). The most reported morbidity was hypertension, followed by musculoskeletal disorders. Regarding the difficulties in seeking health services, the delay in treatment and the waiting line were the most cited by the elderly. Almost all of them reported no activities to promote health in these services and those who received individual counseling on chronic diseases. Almost always, the health professionals who care of them, were mostly doctors followed by nurses. Based on the results presented, it is considered that the health services of medium complexity must undergone a more continuous dialogue with other attention level and focus on actions of health promotion and prevention. It is also recommended the necessity for qualified professionals to delivery health care to elderly and the implementation of protocols by a multidisciplinary health team, intending to provide better and continous care for the elderly with chronic diseases. The healthcare professionals who served them, were mostly physicians, followed by nurses. Through the results presented, it is considered that the medium complexity healthcare services need to perform a more continuous dialogue with the other levels of attention focusing attention to the health promotion and prevention actions. It is also recommended the necessity for qualified professionals to delivery healthcare for the elderly, in addition, a protocol implementation for the multidisciplinary health care team, to provide better care, and also the care continuity to elderly with chronic diseases

Análise da adesão ao tratamento e da qualidade de vida de pessoas com úlcera venosa

The therapeutic adherence is still a big problem among people with venous ulcers (VU) because the treatment is long, expensive and demand changes in lifestyle. In this context, this study aims to examine treatment adherence and quality of life (QOL) of people with VU assisted at primary health care. This is an analytical, cross-sectional study with a quantitative approach to treatment and data analysis. The study had the scenario 13 Family Health Units and 02 Units Mixed of Natal. The target population consisted of 44 persons with UV indicated by the teams of the Family Health Strategy between February and April 2014. Three instruments were used: an instrument to characterize the sociodemographic, health and care aspects, the Multidimensional Scale of Adherence Therapy composed of the dimensions: healthy lifestyle, compressive therapy and neurovascular monitoring and the Charing Cross Venous Ulcer Questionnaire (CCVUQ) that evaluates QOL in persons with VU composed by the domains: Total Score, Social Interaction, Domestic Activities, Aesthetics and Emotional State. The study was approved by the Ethics Committee in Research of the Federal University of Rio Grande do Norte, CAAE: 07556312.0.0000.5537. The data concerning the sociodemographic characteristics showed that there was a predominance of females (65.9%), age range as of 60 years (59.1%) and income of up to 1 minimum wage (81.8%). With the characterization of health, it was evident that most people reported chronic diseases (63.6%), sleep more than 6 hours (81.8%), present pain (81.8%), denying alcoholism (86 4%) and smoking (77.3%) and showed a number greater than or equal to 1 (77.3%) recurrences. Concerning the therapeutic adherence was found that in the dimension compressive therapy there poor adherence. No associations between the domains of adherence and sociodemographic and health variables were found. Was observed, however, better adherence among individuals without pain and with higher schooling. When analyzed the averages of the dimensions of therapeutic adherence with the care characteristics there was statistical significance between: adherence to compression therapy and guidance for use of compressive therapy (p = 0.002) and guidance for regular exercise (p = 0.026). Considering the mean of total score of CCVUQ (mean 51.47, SD 18.33) it is observed that the overall QOL of respondents has approximate value of the median of the scale (50). The mean of the domain Social Interaction (mean 44.23, SD 21.38) and Domestic Activities (mean 45.70, SD 23.21) were those who reported better QOL. There were weak correlations but significant between adherence to healthy lifestyle and Domains Total Score (p = 0.012), social interaction (p-value = 0.048), Aesthetics (p-value = 0.025) and Emotional State (0.017) of CCVUQ. From the data analysis it is concluded that among people with UV, there poor adherence to compressive therapy. Furthermore, we found no statistically significant association between treatment adherence and sociodemographic and health characteristics. It is added that there was a correlation between the healthy lifestyle dimension and domains CCVUQ

O Macrogênero drama Norte-Riograndense: uma análise de gênero e de discurso sob a perspectiva da linguística sistêmico-funcional

The focus of this qualiquantitative research is the phenomenon we are denominating Drama-of-Rio-Grande-do-Norte, which contemplates short verse texts from the oral tradition, sung and presented on stage by women in communities on the south coast of the northeastern Brazilian State, Rio Grande do Norte. This tradition harkens to the medieval romance of the Iberian Peninsula (CASCUDO, 2001; GURGEL, 1999; GALVÃO, 1993; MAGALHÃES, 1973; ROMERO,1977). The objective of this research is to: identify what characterizes the genre Drama of Rio Grande do Norte; situate this genre within a systemization of genres from the oral tradition in Rio Grande do Norte; investigate the interpersonal relationships of power and solidarity through the role of the women in the discourse, how they see themselves and others, pointing out which elements of the world they evaluate and to identify representations of the feminine in the discourse. The theory of Genre and Register of Martin and Rose (2008) and Generic Structure Potential of Hasan (1989, 1996), which has as a base the Systemic Functional Linguistics of Halliday and Matthiessen (2004), Eggins (1994) among others, offers a theoretical framework for the characterization of the genre through the identification of stages and phases configuring its typology the individual schematic structure and its topology its relation to other phenomena in the oral tradition. Other groupings were mapped of the ‗Macrogenre , from the model of Martin and Rose (2008) as a continuum on two axis: between the poles of how the genre circulates orally x in writing, and recited/individually x staged/collectively; as well as mapping the samples with relation to power using the same model, but with the poles of individual voice x collective voice on an axis between increased power and diminished power. Eleven texts described as Narratives and one Anecdote were selected for the analysis of Attitudes, and Negotiations of power. Through the quantification of semantic discursive resources in the discourse systems of Appraisal (MARTIN; WHITE, 2005) and of Negotiation (MARTIN; ROSE, 2007), as well as reflections about humor (EGGINS; SLADE, 1997) we identified the Attitudes and the Negotiations of interpersonal roles. The quantification is based on the theories of Corpus Linguistics (BERBER SARDINHA, 2010), using WordSmith Tools 5.0 (SCOTT, 2010). Our results show that the Drama-of-Rio-Grande-do-Norte is characterized as a Macrogenre in the Community of Oral Stories, in the Family of Street Theatre/Games, composed of five genre types: Narratives, Praise, Complaints, Anecdotes, and Exemplum. The Macrogenre is characterized by its being circulated orally, staged collectively and the texts analyzed configure in differing degrees of power between men and woman. In synthesis we observe that through humor, the Drama-of-Rio-Grande-do-Norte functions to offer a space for women to voice, comment, judge and orient about social conditions in their communities, such as alcoholism, domestic violence, inequalities before the law etc., as well as circulating positive appreciations of rural/coastal culture and judgments about the behavior of members of the speech community, the role of women being to establish and reinforce norms. We anticipate possible benefits of the addition of the genre analyzed in literacy projects in the schools of Rio Grande do Norte

Hipossalivação e seus fatores de risco em idosos funcionalmente independentes e não institucionalizados

The aim of this study was to investigate the risk factors related to hyposalivation among non-institutionalized independently living elderly people, living in Natal-RN, Brazil. The study was a control-case type and the data collection was accomplished by carrying a questionnaire, oral examination and a non-stimulated and stimulated sialometry. The cases were identified by values of salivary flow rate <0,1mL/min and stimulated ≤ 0,5 mL/min, and the controls were by observing the values of sialometry that were bigger than the previously defined parameters. Age and gender were used as pairing variables. The data were analyzed using X2 (α = 0,05) and odds ratio. The sample was composed of 98,1% female and 1,9% male, with mean age 68. There was not association between hyposalivation and the following studied variables: income, schooling, profession, dwelling conditions, domiciliary density, illness, number of teeth and use of prothesis. However, a link was found between hyposalivation and smoking frequency in the passet (OR=5,14), indicating that, referring to elderly people, the tabagism frequency habit was a risk factor to the studied condition. Therefore, refering to non-institutionalized independently elderly people, economic-social-demographic conditions, general and bucal health, diet and habits such as alcoholism have been not risk factors to hyposalivation. However, people that have been smoking have more risk to have the studied conditions