Introduction: Chronic obstructive pulmonary disease (COPD) is a chronic disease that causes illness and death over the whole world. There are a little available data about COPD patients in Vietnam and how the disease affects their health related quality of life (HRQL). Aim: The aim of this study was to examine HRQL among patients with COPD in Ho Chi Minh City, Vietnam, and investigate differences in HRQL between men and women with COPD. Method: This was a descriptive study with a cross-sectional design. The method was quantitative by using a questionnaire. The study was performed at the respiratory department at Cho Ray Hospital in Ho Chi Minh City, Vietnam. The sampling was made through a consecutive sample. The questionnaire was based on Short Form 36 (SF-36) which is a widely used questionnaire to measure HRQL. The answers from the questionnaires were turned into a scale where 0 represent the lowest possible HRQL and 100 represent the highest possible HRQL. Results: The results showed that patients with COPD have a low HRQL. Mean value for HRQL in the total group of respondents was 22.42.The result also showed that women suffering from COPD have a significant lower HRQL than men concerning total HRQL (P-value= 0.04), general health (P-value= 0.02) and pain (P-value= 0.05). Conclusion: Patients suffering from COPD in Ho Chi Minh City have a low score of HRQL. Better routines and knowledge about the symptoms and caring for these patients are needed. Keywords: Chronic Obstructive Pulmonary Disease, Health related quality of life, Vietnam, SF-36

Measurement invariance (MI) is a prerequisite to conduct valid comparisons of Health-related quality of life (HRQOL) measures across distinct populations. This research investigated the performance of estimation methods for testing MI hypotheses in complex survey data using a simulation study, and demonstrates the application of these methods for a HRQOL measure. Four forms of MI were tested using confirmatory factory analysis. The simulation study showed that the maximum likelihood method for small sample size and low intraclass correlation (ICC) performed best, whereas the pseudomaximum likelihood with weights and clustering effects performed better for large sample sizes with high ICC to test configural invariance. Both methods performed similarly to test other forms of MI. In the numeric example, MI of one HRQOL measure in the Canadian Community Health Survey was investigated and established for Aboriginal and non-Aboriginal populations with chronic conditions, indicating that they had similar conceptualizations of quality of life.

Complementary and alternative medication (CAM) use during menopause is a growing public and women's health issue. The use of CAMs is increasing and evidence of CAM use in the general population suggests that women in the menopausal age range are more likely to use CAMs. In the context of menopause, preliminary research has indicated that women are using a number of CAMs to address symptoms. In a study of American women aged 45 to 65 years, 22% of women used CAMs during menopause, specifically herbal or naturopathic remedies (13%), relaxation techniques (9%) and dietary soy supplements (7%). Fourteen percent (14%) of women strongly agreed with the proposition that approaches such as nutrition and vitamins were better than hormones (Newton et al., 2002). The term 'menopause' is a concept of varying perceptions and perspectives. From the biological perspective, menopause is constant, however from the individual perspective, menopause is a unique experience shaped by cultural, emotional, psychological and physical characteristics. Symptoms commonly cited during menopause include hot flushes, night sweats palpitations, irregular menses and muscle and bone pain. The use of CAMs during menopause has the potential to address current symptoms and promote long term health and wellness. The reviewed literature indicated that while a preliminary understanding of CAM use during menopause is evident, further research is needed to clarify and contextualise current prevalence rates and types used. In addition, an understanding of the reasons and factors that influence women to use CAMs during this transition is crucial to understanding women's menopausal experience. This project aimed to explore the prevalence of CAM use during menopause and to identify the reasons that influence women to use these therapies during the transition. To address this question, a two phase study was designed to incorporate both quantitative and qualitative research methods. For Phase 1, a secondary data analysis was undertaken on a dataset that explored women's menopausal experiences and therapies used to address symptoms and for phase 2, focus groups were used to explore women's personal experiences and perceptions of CAM use during menopause. The secondary data analysis was undertaken on a population based sample of 886 women aged 47-67 years. Women were randomly selected from the electoral roll on the basis of gender, age and postcode, which were selected to ensure representation of urban and rural and varying socioeconomic status. From this analysis, the findings indicated that 80% of women used at least one type of CAM with therapeutic techniques (activities such as walking and swimming) the most commonly used (83.0%), followed by nutrition (66.8%), phytoestrogens (55.8%), herbal therapies (41.3%) and CAM medications (25.1%). Women who used CAMs were more likely to experience anxiety and vasomotor (hot flushes and night sweats) symptoms, have higher education levels, be low to middle income earners, be aged under 55 years, be previous users of hormone therapy (HT) and have participated in self breast examinations. CAM users were 40 to 90% less likely to be currently using HT or to smoke more than 20 cigarettes per day. The results of the secondary data analysis indicated the prevalence and factors associated with CAM use, however the factors that influence women to use CAMs during the menopause were unclear. A series of three focus groups and two telephone interviews were undertaken with a group of 15 women, who were current users of CAMs, aged 47-67 years and fluent in English. Women were recruited through an advertisement placed in a newsletter distributed by a large metropolitan hospital; a flyer displayed on noticeboards of libraries and shopping centres; and a media release through the local community newspaper and on a state wide radio station. Analysis of the transcripts indicated that a number of factors interact to influence a woman's decision to use CAMs. Influences included relationships with family, friends and health practitioners, effects of symptoms, information on CAMs and menopause, current menopause research, personal perceptions of health, wellness and effectiveness of CAM therapies to alleviate symptoms. Taken together, the results of the Phase 1 and 2 combined with the literature indicated that women were using multiple forms of CAMs. A post hoc analysis was undertaken and the CAM questions analysed in Phase 1 were critiqued within this new knowledge of CAM use. As a consequence, CAMs were redefined into four groups to enhance current understandings. After reclassification, the use of at least one CAM was 71.6%, with the most commonly used dietary phytoestrogens (60.0%), followed by dietary supplements (47.0%), herbal therapies (35.9%) and phytoestrogen supplements (33.0%). Sociodemographic, health and symptom characteristics were further profiled against the redefined categories of dietary phytoestrogens, dietary supplements, herbal therapies, phytoestrogen supplements and users of multiple CAMs. The consistency of associations varied according to the CAM category with no significant association present across all four CAM categories. This post hoc analysis clarified CAM categorisation and highlighted the high prevalence of women who were using multiple forms of CAMs. Additionally, multivariable analysis validated and confirmed the results of Phase 1 as similar profiles of a CAM user were found. This research has identified the prevalence of CAM use during menopause in Queensland women and has begun to elucidate the reasons that influence women to use these therapies during this transition. The utilisation of both quantitative and qualitative methods has provided a comprehensive and holistic depiction of women's use of CAMs during menopause. The results and conclusions drawn from this research have highlighted areas that need addressing within the research and health service domain. For future research, development of a comprehensive CAM survey instrument is required and clarification of the definition of CAMs is also needed. Multiple definitions are currently used to describe CAM use, creating confusion in classifying types of CAMs and comparing prevalence rates between studies. With regard to health service recommendations, there is a need for increased access to information on menopause and alternative therapies for women. Open, active and participatory relationships between health practitioners and menopausal women are essential and health practitioners need to be aware women are using a variety of CAMs during the menopause and are likely to continue to do so even if health practitioner support is not apparent.

Bakgrund och syfte: ME/CFS påverkar i hög grad aktivitetsförmågan, med många olika kroppsliga symptom. Även små ansträngningar kan ge kraftig försämring. För fungerande vardag krävs planering och prioritering av aktiviteter, vilket förutsätter att den drabbade vet vilken ansträngning som åtgår och vad som är viktigast. I detta arbete undersöks hur ME/CFS-drabbade upplever förmågan att utföra vardagsaktiviteter, hur viktiga aktiviteterna är, i vilken grad uppgifter bortprioriteras av hälsoskäl samt hur hälsorelaterad livskvalitet skattas. Metod: Enkätundersökningen besvarades av 32 respondenter (16-76 år) med diagnostiserad ME/CFS. Aktivitetskompetens och värdering skattades med Min Mening och hälsorelaterad livskvalitet med SF-36. Det frågades också om aktiviteten bortprioriteras av hälsoskäl. Sämsta och bästa läge kunde anges för att återge eventuell variation i förmåga. Resultat: Aktivitetskompetensen skattas lågt (28 - 35 av 100) och värdering av aktiviteter ligger betydligt högre (61). Hälsorelaterad livskvalitet redovisas för åtta områden, där fysisk rollförmåga är särskilt låg (2 av 100). Vitalitet (10), fysisk funktion (24) och allmän hälsa (25) skattas också lågt. Slutsats: Personer med ME/CFS kan uppleva mycket stora begränsningar i vardagliga aktiviteter vilket kan leda till låg aktivitet och delaktighet. De värderar aktivitet högt och sjukdomen leder därför till ofrivillig isolering som måste motverkas av kunnig sjukvårdspersonal med kompetens inom energibesparande tekniker. / Background and purpose: ME/CFS widely affects occupational competence, with many various physical symptoms. Even small efforts can cause severe deterioration. To achieve a functioning everyday life, planning and prioritization is crucial, and the individual must know what effort is needed for each activity and what matters most. This thesis examines how people with ME/CFS experience their ability to perform everyday activities, the value of activities, if activities are avoided for health reasons, and how health-related quality of life is assessed. Method: The survey was answered by 32 ME/CFS-diagnosed respondents (16-76 years). Occupational competence and the value of occupations were assessed by Occupational Self Assessment (OSA), and health-related quality of life by SF-36. It was also asked if respondents refrained from activity for health reasons. The respondents were able to specify worst and best case to reflect fluctuations. Results: Occupational competence is assessed low (28-35 out of 100) and the value of activities is assessed considerably higher (61). Health-related quality of life is reported for eight subscales, where physical ability to exercise roles is particularly low (2 out of 100). Vitality (10), Physical Functioning (24) and General Health (25) are also scored low. Conclusion: People with ME / CFS can experience very high limitations in everyday activities, which can lead to low degree of activity and participation. They value activity high and the disease therefore leads to involuntary isolation that must be counteracted by proficient healthcare professionals with expertise in energy-saving technologies.

Made available in DSpace on 2015-12-06T23:03:14Z (GMT). No. of bitstreams: 0 Previous issue date: 2004 / A ginecomastia incide em ate 60 por cento dos adolescentes, causando dor e transtornos na auto-imagem do paciente, levando a problemas de ordem emocional e fisica (COLOMBO-BENKMAN, 1999), que podem ser revertidos com o tratamento. Este trabalho avaliou o tratamento cirurgico da ginecomastia el sua interferencia, na, qualidade de vida e auto-estima) do paciente. Casuistica: Foram incluidos 33 pacientes de 18 a 50 anos, com ginecomastia de 2 a 21 anos de evolucao, de etiologia puberal na maioria 90,1 por cento). Metodo: Foi feita adenectomia conforme a classificacao de Letterman & Schuster (1969). Os dados do infra e 90º pos-operatorio (PO) foram avaliados. Os pacientes responderam no pre e PO de seis meses as versoes brasileiras dos questionarios de Rosenberg para auto-estima e Short-Form 36 para qualidade de vida. Resultados: Houve melhora estatisticamente significante para os dominios Estado Geral de Saúde, Capacidade Funcional, Aspectos Sociais, Vitalidade e Saúde Mental. Conclusao: O emprego dos questionarios de Rosenberg-EPM e Short-Form 36 permitiu demonstrar que o tratamento cirurgico da ginecomastia promoveu mudancas positivas na qualidade de vida e na auto-estima dos pacientes / Gynecomastia has above a 60% incidence in adolescents, leading to pain and self-image disturbs, with emotional and physical problems (COLOMBO-BENKMAN, 1999), that can be solved with the threatening. This study has evaluated the patients’ self-esteem and health related quality of life before and after the surgical treatment of gynecomastia. Sample: 33 patients within 18 to 50 years old were included, with confirmed gynecomastia from 2 to 21 years of evolution, puberal etiology was the main cause (90.1%). Methods: There were performed adenectomy regarding Letterman & Schurter’s (1969) classification. Before and six month post-operatory (PO) data was evaluated. The patients answered at these moments to the brazilian versions of the Rosenberg self-esteem and Short Form-36 questionnaires. Results:There were improve, statisticaly significant, to Short Form-36 General Health State, Functional Capacity, Social Aspects, Vitality and Mental Health. Conclusion: Using the Rosenberg ́s and Short-Form 36 question naires could demonstrate increase to the quality of life and self-esteem due to the gynecomastia surgical treatment. / BV UNIFESP: Teses e dissertações

Introdução: As doenças de Gaucher (DG), Fabry (DF) e Mucopolissacaridoses (MPS) constituem-se nos tipos mais frequentes de doenças lisossômicas (DL) tratados por terapia de reposição enzimática (TRE). No Brasil, até o presente momento, não há dados de avaliação da qualidade de vida de pacientes com DL, nem instrumento específico validado paratanto. Objetivo: Avaliar a qualidade de vida (QV) de uma amostra de pacientes brasileiros com DG, DF e MPS por meio da aplicação do questionário SF-36. Método: Estudo transversal observacional. O SF-36 é composto por 8 domínios: capacidade funcional, aspecto físico, dor e estado geral de saúde; vitalidade, aspecto social e saúde mental. O questionário foi aplicado, em uma consulta de rotina no ano de 2008, aos pacientes atendidos no ambulatório de DL do Serviço de Genética Médica do Hospital de Clínicas de Porto Alegre, Brasil (SGM/HCPA), com idade igual ou superior a 12 anos e com habilidade cognitiva para preenchimento do mesmo. Resultados: Quarenta e quatro pacientes foram incluídos no estudo (DG= 21, DF=14, MPS= 9; média de idade=27,5±13,7 anos; sexo masculino=27), sendo que 34 (77,2%) estavam em TRE. Considerando a amostra total de pacientes tratados, houve diferença significativa em relação aos domínios capacidade funcional (p=0,036) e estado geral de saúde (p=0,030), sugestiva de melhor QV na DG. Doença de Gaucher: quinze pacientes estavam recebendo TRE com imiglucerase (DG tipo I= 14; DG tipo III= 1; μ tratamento= 8,5±2,5 anos). O domínio com maior pontuação foi saúde mental (μ= 77,3±9,7 para o grupo com TRE, e 72,0±10,8, para o grupo sem TRE); o domínio com menor pontuação foi vitalidade (μ= 67,7±19,9) para o grupo com TRE, e aspectos emocionais (μ= 38,8±44,7) para o grupo sem TRE. A comparação dos pacientes com e sem TRE mostrou que os mesmos diferem somente no domínio “dor” (p= 0,036), cujo escore foi maior entre os pacientes tratados. Doença de Fabry: oito pacientes estavam recebendo TRE com alfagalsidase e 4 com betalgasidase (μ tratamento= 3,5±2,2 anos). Considerando somente os pacientes do sexo masculino (n=10, todos em TRE), o domínio que apresentou maior pontuação foi aspectos emocionais (μ= 66,6±39,4) e o que apresentou menor pontuação foi aspectos físicos (μ= 45,0±40,0. Não foi encontrada diferença estatisticamente significativa entre os grupos recebendo alfagalsidase ou betalgasidase. Para os indivíduos do sexo feminino (n=4, dois em TRE), o domínio que apresentou maior pontuação foi aspectos sociais (μ= 89,8±6,0) e o que apresentou menor pontuação foi estado geral de saúde (μ= 62,2±27,4). Mucopolissacaridoses: nove pacientes foram incluídos (MPS I=3; MPS II=2 MPSIV A= 2, MPS VI=2), sendo que 7 estavam em TRE (MPS I=3; MPS II=2, MPS VI=2; μ tratamento= 4,2 ±2,3 anos). Considerando os pacientes em TRE, a média de pontuação dos domínios variou de 71,4±45,7 (aspectos físicos) a 44,1±21,7 (dor), sendo que em 4 domínios a média foi superior a 60..Entre os pacientes sem TRE, o domínio que apresentou maior pontuação foi aspectos sociais (média= 93,5±6,25) e o que apresentou menor pontuação foi vitalidade (média= 37,5±17,5), sendo que em 5 domínios a média foi superior a 60. Discussão/Conclusão: Embora os nossos achados sejam limitados pelo tamanho amostral, eles sugerem a TRE com imiglucerase tem efeito benéfico na dor apresentada pelos pacientes com DG, e que estes pacientes apresentam melhor QV quando comparados aos pacientes com DF e MPS. Em relação à DF, os escores obtidos foram maiores nas heterozigotas, o que pode ser explicado pela doença ser ligada ao X. Parece existir diferenças tipo-específicas na QV de pacientes com MPS. Estudos adicionais devem ser realizados para confirmar estes achados. / Introduction: Gaucher (GD) and Fabry (FD) disease and mucopolysaccharidosis are the most frequent types of lysosomal storage diseases (LSD) treatable with enzyme replacement therapy (ERT). In Brazil, no data are currently available about the quality of life (QoL) of patients with LSD. Objective: To evaluate QoL in a sample of Brazilian patients with GD, FD and MPS using the SF-36 survey. Method: Observational cross-sectional study. The SF-36 survey was administered to cognitively able patients 12 years or older, who were seen in the Medical Genetics Service of Hospital de Clínicas de Porto Alegre, (SGM/HCPA), Porto Alegre, Brazil. Results: Forty-four patients were included (GD = 21; FD = 14; MPS = 9); mean age was 27.5 ± 13.7 years; and 34 (77.2%) were receiving ERT. The analysis of patients receiving ERT revealed a statistically significant difference in the physical function (p = 0.036) and general health (p = 0.030) domains; results suggests that QoL is better in GD. The comparison of patients with GD on ERT (n= 15) and naïve to ERT (n = 6) revealed differences only in the bodily pain domain (p = 0.036). In the analysis of patients with FD, no significant differences were found in SF-36 scores between male patients receiving agalsidase alpha (n = 7) or agalsidase beta (n = 3); heterozygous women had higher scores than hemizygous individuals. In the group of patients with MPS receiving ERT (MPS I = 3; MPS II = 2; MPS VI = 2), mean domain scores ranged from 71.4 ± 48.7 (role-physical) to 44.1 ± 23.4 (bodily pain), whereas in the group of patients not receiving ERT (MPS IV A = 2), scores ranged from 37.5 ± 24.7 (vitality) to 93.7 ± 8.8 (social functioning). Discussion and Conclusion: Although limited because of the small number of patients included, findings suggest that patients with GD receiving ERT have a better QoL than patients with FD or MPS, and that ERT with imiglucerase has a beneficial effect on pain for patients with GD. In the group of patients with FD, scores were higher in heterozygous women, which may be explained by the fact that FD is an X-linked disorder. There seem to be type-specific QoL differences in the group of patients with MPS. Further studies should be conducted to confirm our findings.

Cardivascular diseases are still the major cause of mortality and morbidity in developped countries. From the available demographic datas ageing of population connected with increased number of patients is evident. These cardiovascular patients are treated conservative, interventional and surgical way. In the theoretical part of this work characteristics and patophysiology of ageing is described regarding particular body systems. Then there are mentioned individual diseases of heart which are currently being treated in a surgical way. It mainly deals with ischemic heart disease, disease of aortic, mitral and tricuspid valve and supraventricular arrythmia. There is also a desrciption of pre-operative preparation, course of the surgery and early postoperative period as well as pharmacological and interventionist therapy. Attention is paid to the differences in surgical care about seniors ? determination of operation risk, pre-operative course, operative course and postoperative rehabilitation. Quality of life is also mentioned as the important aspect while evaluating the success rate of treatment of the particular disease. The work gives information about its definition, possibilities of its observing and evaluation during the postoperative period. Last but not least social issues of senior patients are mentioned in the work as well. The research part is focused on the evaluation of the patients´ state during the pre-operative, perioperative and postoperative period. Particular associated diseases, data from the surgery and postoperative complications are also recorded. The research part then deals with the confirmation of individual hypothesis which were performed through the questionnaires before and one year after the surgery. It was answered by 310 patients.

Introdução: As doenças de Gaucher (DG), Fabry (DF) e Mucopolissacaridoses (MPS) constituem-se nos tipos mais frequentes de doenças lisossômicas (DL) tratados por terapia de reposição enzimática (TRE). No Brasil, até o presente momento, não há dados de avaliação da qualidade de vida de pacientes com DL, nem instrumento específico validado paratanto. Objetivo: Avaliar a qualidade de vida (QV) de uma amostra de pacientes brasileiros com DG, DF e MPS por meio da aplicação do questionário SF-36. Método: Estudo transversal observacional. O SF-36 é composto por 8 domínios: capacidade funcional, aspecto físico, dor e estado geral de saúde; vitalidade, aspecto social e saúde mental. O questionário foi aplicado, em uma consulta de rotina no ano de 2008, aos pacientes atendidos no ambulatório de DL do Serviço de Genética Médica do Hospital de Clínicas de Porto Alegre, Brasil (SGM/HCPA), com idade igual ou superior a 12 anos e com habilidade cognitiva para preenchimento do mesmo. Resultados: Quarenta e quatro pacientes foram incluídos no estudo (DG= 21, DF=14, MPS= 9; média de idade=27,5±13,7 anos; sexo masculino=27), sendo que 34 (77,2%) estavam em TRE. Considerando a amostra total de pacientes tratados, houve diferença significativa em relação aos domínios capacidade funcional (p=0,036) e estado geral de saúde (p=0,030), sugestiva de melhor QV na DG. Doença de Gaucher: quinze pacientes estavam recebendo TRE com imiglucerase (DG tipo I= 14; DG tipo III= 1; μ tratamento= 8,5±2,5 anos). O domínio com maior pontuação foi saúde mental (μ= 77,3±9,7 para o grupo com TRE, e 72,0±10,8, para o grupo sem TRE); o domínio com menor pontuação foi vitalidade (μ= 67,7±19,9) para o grupo com TRE, e aspectos emocionais (μ= 38,8±44,7) para o grupo sem TRE. A comparação dos pacientes com e sem TRE mostrou que os mesmos diferem somente no domínio “dor” (p= 0,036), cujo escore foi maior entre os pacientes tratados. Doença de Fabry: oito pacientes estavam recebendo TRE com alfagalsidase e 4 com betalgasidase (μ tratamento= 3,5±2,2 anos). Considerando somente os pacientes do sexo masculino (n=10, todos em TRE), o domínio que apresentou maior pontuação foi aspectos emocionais (μ= 66,6±39,4) e o que apresentou menor pontuação foi aspectos físicos (μ= 45,0±40,0. Não foi encontrada diferença estatisticamente significativa entre os grupos recebendo alfagalsidase ou betalgasidase. Para os indivíduos do sexo feminino (n=4, dois em TRE), o domínio que apresentou maior pontuação foi aspectos sociais (μ= 89,8±6,0) e o que apresentou menor pontuação foi estado geral de saúde (μ= 62,2±27,4). Mucopolissacaridoses: nove pacientes foram incluídos (MPS I=3; MPS II=2 MPSIV A= 2, MPS VI=2), sendo que 7 estavam em TRE (MPS I=3; MPS II=2, MPS VI=2; μ tratamento= 4,2 ±2,3 anos). Considerando os pacientes em TRE, a média de pontuação dos domínios variou de 71,4±45,7 (aspectos físicos) a 44,1±21,7 (dor), sendo que em 4 domínios a média foi superior a 60..Entre os pacientes sem TRE, o domínio que apresentou maior pontuação foi aspectos sociais (média= 93,5±6,25) e o que apresentou menor pontuação foi vitalidade (média= 37,5±17,5), sendo que em 5 domínios a média foi superior a 60. Discussão/Conclusão: Embora os nossos achados sejam limitados pelo tamanho amostral, eles sugerem a TRE com imiglucerase tem efeito benéfico na dor apresentada pelos pacientes com DG, e que estes pacientes apresentam melhor QV quando comparados aos pacientes com DF e MPS. Em relação à DF, os escores obtidos foram maiores nas heterozigotas, o que pode ser explicado pela doença ser ligada ao X. Parece existir diferenças tipo-específicas na QV de pacientes com MPS. Estudos adicionais devem ser realizados para confirmar estes achados. / Introduction: Gaucher (GD) and Fabry (FD) disease and mucopolysaccharidosis are the most frequent types of lysosomal storage diseases (LSD) treatable with enzyme replacement therapy (ERT). In Brazil, no data are currently available about the quality of life (QoL) of patients with LSD. Objective: To evaluate QoL in a sample of Brazilian patients with GD, FD and MPS using the SF-36 survey. Method: Observational cross-sectional study. The SF-36 survey was administered to cognitively able patients 12 years or older, who were seen in the Medical Genetics Service of Hospital de Clínicas de Porto Alegre, (SGM/HCPA), Porto Alegre, Brazil. Results: Forty-four patients were included (GD = 21; FD = 14; MPS = 9); mean age was 27.5 ± 13.7 years; and 34 (77.2%) were receiving ERT. The analysis of patients receiving ERT revealed a statistically significant difference in the physical function (p = 0.036) and general health (p = 0.030) domains; results suggests that QoL is better in GD. The comparison of patients with GD on ERT (n= 15) and naïve to ERT (n = 6) revealed differences only in the bodily pain domain (p = 0.036). In the analysis of patients with FD, no significant differences were found in SF-36 scores between male patients receiving agalsidase alpha (n = 7) or agalsidase beta (n = 3); heterozygous women had higher scores than hemizygous individuals. In the group of patients with MPS receiving ERT (MPS I = 3; MPS II = 2; MPS VI = 2), mean domain scores ranged from 71.4 ± 48.7 (role-physical) to 44.1 ± 23.4 (bodily pain), whereas in the group of patients not receiving ERT (MPS IV A = 2), scores ranged from 37.5 ± 24.7 (vitality) to 93.7 ± 8.8 (social functioning). Discussion and Conclusion: Although limited because of the small number of patients included, findings suggest that patients with GD receiving ERT have a better QoL than patients with FD or MPS, and that ERT with imiglucerase has a beneficial effect on pain for patients with GD. In the group of patients with FD, scores were higher in heterozygous women, which may be explained by the fact that FD is an X-linked disorder. There seem to be type-specific QoL differences in the group of patients with MPS. Further studies should be conducted to confirm our findings.

Orientador: Marilisa Berti de Azevedo Barros / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas / Made available in DSpace on 2018-08-10T14:41:14Z (GMT). No. of bitstreams: 1 Lima_MargarethGuimaraes_M.pdf: 2056906 bytes, checksum: 13b1d46ec5a5b5af98aded6bf9f1c90b (MD5) Previous issue date: 2008 / Resumo: O processo de envelhecimento está acontecendo de maneira rápida, principalmente nos países em desenvolvimento. Esse processo gera vários desafios para a saúde pública, entre eles, melhorar a qualidade dos anos de vida conquistados (WHO, 2005). Este estudo teve como objetivo analisar a qualidade de vida relacionada à saúde (QVRS) de idosos e avaliar a influência de fatores demográficos e socioeconômicos e o impacto de doenças crônicas sobre as várias dimensões da qualidade de vida. A pesquisa utilizou dados do Inquérito Multicêntrico de Saúde no Estado de São Paulo, ISA-SP e o instrumento usado para medir a QVRS foi o Medical Outcomes Study 36-Item Short-Form Health Survey (SF-36). É um estudo transversal de base populacional, com amostra de conglomerados, estratificada e em múltiplos estágios. Foram analisados 1958 idosos com 60 anos ou mais, residentes em 4 áreas do Estado de São Paulo. A QVRS dos idosos estudados apresentou-se em melhores condições nos domínios: aspectos emocionais (86,1), sociais (85,9) e físicos (81,2) e as piores condições foram encontradas em vitalidade (64,4), saúde mental (69,9) e estado geral de saúde (70,1). Segundo determinantes demográficos e socioeconômicos, a QVRS revelou-se em piores condições nos idosos do sexo feminino; naqueles com idade mais avançada; com menores rendas; com menor nível de escolaridade e nos idosos da religião evangélica, comparados aos da religião católica, principalmente nos domínios capacidade funcional e aspectos físicos. Segundo doenças crônicas, encontrou-se que as condições que exercem maior influência na QVRS dos idosos são: acidente vascular cerebral, depressão/ansiedade e osteoporose, principalmente nos domínios dor e estado geral de saúde. Apresentar maior número de doenças crônicas também é fator de pior situação de qualidade de vida, principalmente a presença de três ou mais, em que os domínios de capacidade funcional, dor, estado geral de saúde e vitalidade foram os mais prejudicados. Os resultados sugerem que programas relacionados à saúde do idoso considerem a abordagem multidimensonal da qualidade de vida e priorizem as atenções voltadas para os subgrupos mais vulneráveis / Abstract: A longer aging process is occurring rapidly, especially in developing countries. This process generates a number of challenges to public health, including improving the quality of the additional years of life. The aim of the present study was to analyze health-related quality of life (HRQOL) among elderly individuals and assess the influence of demographic and socioeconomic factors as well as the impact of chronic illness on different quality of life dimensions. The research used data from the Multi-Centric Health Inquiry in the state of Sao Paulo (Brazil) and the instrument used to measure HRQOL was the Medical Outcomes Study 36-Item Short-Form Health Survey (SF-36). A population-based cross-sectional study was carried out in multiple stages on a stratified sample determined by clusters. 1958 elderly individuals were analyzed. Subjects were aged 60 years or more and residents in four areas of the state of Sao Paulo. HRQOL of these elderly individuals scored better in the following SF-36 domains: role-emotional (86.1), social functioning (85.9) and role-physical (81.2), whereas the worst scores were found in vitality (64.4), mental health (69.9) and general health (70.1). According to demographic and socioeconomic determinants, HRQOL was worse among women, individuals at more advanced ages; those with lower incomes; those with low levels of schooling; and those who practiced evangelist religions when compared to those who followed the catholic religion, especially in the physical functioning and role-physical domains. Regarding chronic illness, the following conditions were found to exercise a greater influence on HRQOL among the elderly: vascular cerebral accident (stroke), depression/anxiety and osteoporosis, especially in the bodily pain and general health domains. Having a higher number of chronic illnesses was also a factor for a worse quality of life, especially the presence of three illnesses or more; the physical functioning, bodily pain, general health and vitality domains were the most affected. The results suggest that programs addressing elderly health should consider a multi-dimensional approach to quality of life and prioritize actions directed at more vulnerable subgroups / Mestrado / Epidemiologia / Mestre em Saude Coletiva

Introdução: As doenças de Gaucher (DG), Fabry (DF) e Mucopolissacaridoses (MPS) constituem-se nos tipos mais frequentes de doenças lisossômicas (DL) tratados por terapia de reposição enzimática (TRE). No Brasil, até o presente momento, não há dados de avaliação da qualidade de vida de pacientes com DL, nem instrumento específico validado paratanto. Objetivo: Avaliar a qualidade de vida (QV) de uma amostra de pacientes brasileiros com DG, DF e MPS por meio da aplicação do questionário SF-36. Método: Estudo transversal observacional. O SF-36 é composto por 8 domínios: capacidade funcional, aspecto físico, dor e estado geral de saúde; vitalidade, aspecto social e saúde mental. O questionário foi aplicado, em uma consulta de rotina no ano de 2008, aos pacientes atendidos no ambulatório de DL do Serviço de Genética Médica do Hospital de Clínicas de Porto Alegre, Brasil (SGM/HCPA), com idade igual ou superior a 12 anos e com habilidade cognitiva para preenchimento do mesmo. Resultados: Quarenta e quatro pacientes foram incluídos no estudo (DG= 21, DF=14, MPS= 9; média de idade=27,5±13,7 anos; sexo masculino=27), sendo que 34 (77,2%) estavam em TRE. Considerando a amostra total de pacientes tratados, houve diferença significativa em relação aos domínios capacidade funcional (p=0,036) e estado geral de saúde (p=0,030), sugestiva de melhor QV na DG. Doença de Gaucher: quinze pacientes estavam recebendo TRE com imiglucerase (DG tipo I= 14; DG tipo III= 1; μ tratamento= 8,5±2,5 anos). O domínio com maior pontuação foi saúde mental (μ= 77,3±9,7 para o grupo com TRE, e 72,0±10,8, para o grupo sem TRE); o domínio com menor pontuação foi vitalidade (μ= 67,7±19,9) para o grupo com TRE, e aspectos emocionais (μ= 38,8±44,7) para o grupo sem TRE. A comparação dos pacientes com e sem TRE mostrou que os mesmos diferem somente no domínio “dor” (p= 0,036), cujo escore foi maior entre os pacientes tratados. Doença de Fabry: oito pacientes estavam recebendo TRE com alfagalsidase e 4 com betalgasidase (μ tratamento= 3,5±2,2 anos). Considerando somente os pacientes do sexo masculino (n=10, todos em TRE), o domínio que apresentou maior pontuação foi aspectos emocionais (μ= 66,6±39,4) e o que apresentou menor pontuação foi aspectos físicos (μ= 45,0±40,0. Não foi encontrada diferença estatisticamente significativa entre os grupos recebendo alfagalsidase ou betalgasidase. Para os indivíduos do sexo feminino (n=4, dois em TRE), o domínio que apresentou maior pontuação foi aspectos sociais (μ= 89,8±6,0) e o que apresentou menor pontuação foi estado geral de saúde (μ= 62,2±27,4). Mucopolissacaridoses: nove pacientes foram incluídos (MPS I=3; MPS II=2 MPSIV A= 2, MPS VI=2), sendo que 7 estavam em TRE (MPS I=3; MPS II=2, MPS VI=2; μ tratamento= 4,2 ±2,3 anos). Considerando os pacientes em TRE, a média de pontuação dos domínios variou de 71,4±45,7 (aspectos físicos) a 44,1±21,7 (dor), sendo que em 4 domínios a média foi superior a 60..Entre os pacientes sem TRE, o domínio que apresentou maior pontuação foi aspectos sociais (média= 93,5±6,25) e o que apresentou menor pontuação foi vitalidade (média= 37,5±17,5), sendo que em 5 domínios a média foi superior a 60. Discussão/Conclusão: Embora os nossos achados sejam limitados pelo tamanho amostral, eles sugerem a TRE com imiglucerase tem efeito benéfico na dor apresentada pelos pacientes com DG, e que estes pacientes apresentam melhor QV quando comparados aos pacientes com DF e MPS. Em relação à DF, os escores obtidos foram maiores nas heterozigotas, o que pode ser explicado pela doença ser ligada ao X. Parece existir diferenças tipo-específicas na QV de pacientes com MPS. Estudos adicionais devem ser realizados para confirmar estes achados. / Introduction: Gaucher (GD) and Fabry (FD) disease and mucopolysaccharidosis are the most frequent types of lysosomal storage diseases (LSD) treatable with enzyme replacement therapy (ERT). In Brazil, no data are currently available about the quality of life (QoL) of patients with LSD. Objective: To evaluate QoL in a sample of Brazilian patients with GD, FD and MPS using the SF-36 survey. Method: Observational cross-sectional study. The SF-36 survey was administered to cognitively able patients 12 years or older, who were seen in the Medical Genetics Service of Hospital de Clínicas de Porto Alegre, (SGM/HCPA), Porto Alegre, Brazil. Results: Forty-four patients were included (GD = 21; FD = 14; MPS = 9); mean age was 27.5 ± 13.7 years; and 34 (77.2%) were receiving ERT. The analysis of patients receiving ERT revealed a statistically significant difference in the physical function (p = 0.036) and general health (p = 0.030) domains; results suggests that QoL is better in GD. The comparison of patients with GD on ERT (n= 15) and naïve to ERT (n = 6) revealed differences only in the bodily pain domain (p = 0.036). In the analysis of patients with FD, no significant differences were found in SF-36 scores between male patients receiving agalsidase alpha (n = 7) or agalsidase beta (n = 3); heterozygous women had higher scores than hemizygous individuals. In the group of patients with MPS receiving ERT (MPS I = 3; MPS II = 2; MPS VI = 2), mean domain scores ranged from 71.4 ± 48.7 (role-physical) to 44.1 ± 23.4 (bodily pain), whereas in the group of patients not receiving ERT (MPS IV A = 2), scores ranged from 37.5 ± 24.7 (vitality) to 93.7 ± 8.8 (social functioning). Discussion and Conclusion: Although limited because of the small number of patients included, findings suggest that patients with GD receiving ERT have a better QoL than patients with FD or MPS, and that ERT with imiglucerase has a beneficial effect on pain for patients with GD. In the group of patients with FD, scores were higher in heterozygous women, which may be explained by the fact that FD is an X-linked disorder. There seem to be type-specific QoL differences in the group of patients with MPS. Further studies should be conducted to confirm our findings.