Polimorfismos do gene MSX1 e a fenda labio e/ou palatina não-sindrômica

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

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

Custo-efetividade da terapia compressiva no processo de cicatrização de úlceras venosas

Analytical study of therapeutic nonrandomized intervention type, intra-group controlled, with the aim of analyzing the cost-effectiveness of compression therapy with manipulated Unna boot in relation to conventional therapy in the healing of venous ulcers (VU) of patients treated in ambulatory clinic. The study population was composed by patients with VU treated by angiologists in Surgical Clinic Ambulatory of the Onofre Lopes University Hospital (HUOL) with a sample of 18 patients. It obtained the assent of the HUOL Ethics in Research Committee (Protocol 276/09). Data collection was performed over a period of four months by the own master's student and 34 nursing students, through the application of the research instrument in the admission of patients to the study and in the ten subsequent evaluations, performed at the time of changing Unna boot, weekly, for a maximum period of 10 weeks. The data were analyzed with SPSS 15.0 software, using descriptive and inferential statistics, and presented as tables, charts and graphs. Among those surveyed, prevailed: females, mean age 57.6 years, low education and income levels, most retired, unemployed or off work, with the standing position more than six hours per day and up to eight hours daily of domestic or occupational activities. In health status profile of respondents there were predominantly sleep, rest and inadequate elevation of the lower limbs, no smoking and/or alcohol use, presence of hypertension and no use of drugs. Most presented the first VU for over 10 years, recurrences, present VU for more than five years, involvement of left leg, in malleolar and / or distal leg region, mild edema, hyperpigmentation, lipodermatosclerosis, telangiectasies, reticular and varicose veins, mild pain, serous exudate in moderate quantity, small lesions (up to 50cm2), with predominance of granulation tissue and / or epithelialization and demarcated, elevated and irregular borders, with crusts and macerated. Most patients reported that in the 10 weeks prior to admission, made bandages at home and / or Basic Health Unit and / or ambulatory, with nursing aides or technicians, daily, and on weekends or holidays, performed by patients themselves, using healing ointment on the lesion, being observed granulation / epithelialization and increase in VU prevalent in the 10 weeks of traditional treatment. After follow up with manipulated Unna boot, was observed a decrease of lesions in all study patients, with complete healing in 27.8% of those between 1 and 5 weeks of treatment, with satisfactory evolution of the lesions, pain and ankle and calf circumferences, and unsatisfactory development of the borders of ulcers, edema, sleep, rest and elevation of the lower limbs, especially in more chronic patients. Furthermore, patients who achieved total healing and exhibited the greatest percentage reduction of lesions had a higher number of wound healing factors (ρ = 0.01 and ρ = 0.027, respectively). The manipulated Unna boot showed better results in those patients with shorter duration of injury, leading them to a satisfactory outcome within a short period of treatment. After the cost-effectiveness analysis, we conclude that the manipulated Unna boot is more effective than conventional therapy in the healing process of VU and is more cost-effective in patients with shorter lesions (ρ = 0.001), shorter treatment (ρ = 0.000) and greater number of wound healing factors (ρ = 0.005).

Hipertensão arterial e fatores de risco em servidores atendidos pelo departamento de assistência da Universidade Federal do Rio Grande do Norte

Systemic arterial hypertension is a multifactorial disease that contributes to the country´s high cardiovascular morbi-mortality rates. Considering that hypertension affects individuals in their most productive age while facing work and living risk factors, it is important to investigate its occurrence and predisposing factors in different occupational segments. The objective of this study was to identify the prevalence of hypertension among workers attended to in a medical service of a public university, their hypertension levels, the risk factors present, and their knowledge of the factors that influence the arterial pressure. The epidemiologic study was conducted in the Health Department of the Federal University of Rio Grande do Norte with 102 workers that sought care in the medical clinic during the months of March to May 2009. Data were collected by means of a questionnaire and measurements of systolic and diastolic arterial pressure (SAP and DAP) that were classified in stages according to the Brazilian Society of Hypertension and the degree of risk for cardiovascular events according to the criteria of the Brazilian Society for Cardiology. Data were analyzed using descriptive statistics. The workers were, on average, 54 years of age; the majority (67%) was male and had primary or middle educational level; they worked mainly in supplemental units and deanship offices conducting different functions such as security guards, administrative assistants, health auxiliaries and constructions workers; 48 (47%) of the workers identified themselves as hypertensive for 8 years on average, with the majority executing hard labor and administrative functions. Among the workers with hypertension, the number of the pressure levels classified as pre-hypertensive, stage I and II were: (12% in the SAP and 20% in the DAP); (16% in the SAP and 9% in the DAP); and (15% in the SAP and 5% in the DAP), respectively. The workers that did not identify themselves as hypertensive presented classifications with greater frequencies were: normal (16% in the SAP and 30% in the DAP); and pre-hypertensive (21% in the SAP and 16% in the DAP). The risk factors identified in more than 50% of the workers were: tobacco smoking, alcohol consumption and indices of being overweight, although physical activities are also present. Of the 48 workers diagnosed as hypertensive, those that had 5 risk factors present and limitrophic pressure levels (12%), in stage I hypertension (16%) and stage II hypertension (15¨%) were categorized as being in high risk for vascular events. The number of workers that indicated they had knowledge of the factors that influence their hypertension was less than 39% for each factor. It is concluded that there is a high prevalence of systemic arterial hypertension in the university workers, even amongst those already under treatment. They constitute a population at risk considering their age group, their work functions, and their inadequate life habits. Health care of these hypertensive workers that seek attention in the Health Department is an important aspect of the internal workers health policy in the institution. Educational interventions are recommended for the improvement of quality of life and of work in these workers

Integridade tissular de pacientes com úlceras venosas: um estudo baseado na Classificação dos Resultados de Enfermagem

The venous ulcer is an epidemiological problem of high prevalence, causing disability and dependence. Assess the tissue impairment level of patients with venous lesions, within a nursing referential, is relevant for the implementation of a directed assistance to specific clientele. Thus, this work aims to characterize the health status regarding the integrity the lower limbs skin of patients with venous ulcers, according to the of tissue integrity outcome indicators from the Nursing Outcomes Classification. A cross-sectional study conducted in a university hospital in Natal - Rio Grande do Norte. The sample consisted of 50 participants, selected through consecutive sampling. Data collection occurred through a interview and physical examination form and a operational definitions tool for indicators of the nursing Tissue Integrity outcome directed to patients with venous ulcer, applied from February to June 2012. Data analysis was done by descriptive statistics and nonparametric tests (Spearman, Kruskal-Wallis and Mann-Whitney tests). The project was approved by the Research Ethics Committee with protocol 608/11 and Presentation Certificate to Ethical Consideration No. 0038.0.294.000-11. The results were presented using three scientific articles derivatives of research. It was found that the indicators show moderate impairment, light and not impaired, as the median. The respondents had an average of 59.72 years, 66% female, 50% were retired, 60% with a partner, 44% had arterial hypertension, 26% allergies, 20% diabetes mellitus, 96% were sedentary, 14% drank alcohol and 6% were smokers. There was a statistically significant correlation of low intensity between age and hydration (p=0.032; rs=-0.304) and skin desquamation (p=0.026; rs=-0.316), family income and necrosis (p=0.012; rs=-0.353); Ankle Brachial Index and tissue perfusion (p=0,044; rs=-0,329); Diabetes Mellitus and texture (p=0.015) and tissue perfusion (p=0.026); allergy and texture (p=0.034), physical activity and hydration (p=0.034), smoking and thickness (p=0.018), and alcohol consumption and exudate (p=0.045). We conclude that the patients had light to moderate impairment, indicating a good state of health on the integrity of the skin of the lower limbs, according to the indicators of the outcome of tissue integrity Classification Nursing Outcomes valued in the present study. It is believed that the evaluation of impairment tissue using a self-nursing system and its relation with socioeconomic, clinical and risk factors are unique tools in the care planning and in the wound healing

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

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