885 resultados para Enzyme replacement therapy


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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Pós-graduação em Enfermagem (mestrado profissional) - FMB

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Pós-graduação em Enfermagem (mestrado profissional) - FMB

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OBJETIVO: Foi avaliar a frequência e os fatores de risco de quedas em mulheres na pós-menopausa. MÉTODOS: Estudo clínico, transversal, envolvendo 358 mulheres (idade entre 45 e 65 anos e amenorreia >12 meses) com tempo de pós-menopausa <10 anos. Os critérios de exclusão foram: doença neurológica ou músculo esquelético, vestibulopatias, hipertensão arterial não controlada, hipotensão postural, déficit visual sem correção, uso de medicamentos (sedativos e hipnóticos). A queda foi definida como mudança de posição inesperada, não intencional, que faz com que o indivíduo permaneça em nível inferior à posição inicial. Foram analisados o histórico de quedas (últimos 24 meses) e as características clínicas, antropométricas (índice de massa corpórea (IMC) e circunferência da cintura (CC)) e densidade mineral óssea. Na comparação segundo grupo de mulheres com e sem histórico de queda, foi empregado o Teste do Qui-quadrado ou Exato de Fisher e regressão logística com cálculo do odds ratio (OR). RESULTADOS: Entre as mulheres incluídas, 48,0% (172/358) referiram queda, com fratura em 17,4% (30/172). A queda ocorreu dentro de casa em 58,7% (101/172). A média de idade foi 55,7±6,5 anos, tempo de menopausa de 5,8±3,5anos, IMC 28,3±4,6 kg/m² e CC 89,0±11,4 cm. Foi observada maior frequência de tabagismo e diabetes entre as mulheres com histórico de quedas quando comparadas àquelas sem queda, de 25,6 versus 16,1% e 12,8 versus 5,9%, respectivamente (p<0,05). Na análise multivariada em função das variáveis clínicas influentes, o risco de queda aumentou com o tabagismo atual (OR 1,93; IC95% 1,01-3,71). Demais variáveis clínicas e antropométricas não influenciaram no risco de queda. CONCLUSÕES: Em mulheres na pós-menopausa inicial houve expressiva frequência de quedas. O tabagismo foi indicador clínico de risco para queda. Com o reconhecimento de fatores determinantes para queda, medidas preventivas são importantes, como a orientação de abolir o tabagismo.

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The experience of menopause is increasingly present, and demand strategies to improve the quality of life of women during this period. This research aimed to evaluate the quality of life for women in the climacteric phase, with or without the use of hormone replacement therapy (HRT). This is a longitudinal epidemiological study of a sample of 99 women per group. It was evaluated the sociodemographic, clinical and behavioral characteristics. It was used the Menopause Rating Scale (MRS) and the Medical Outcomes Study 36-item Short-Form Health Survey (SF-36). For data analysis, it was used the Student t test, chi-square and Tukey. HRT users had an average age of 50.76 ± 3.63 years, and nonusers of 48.95 ± 6,27anos (p = 0.01). It was identified a higher frequency of moderate climacteric symptoms of mild intensity. The social aspects evidenced scores below 50 for the two groups. There were differences between groups with respect to the components of the SF-36 and MRS to general health, functional capacity, lower capacity, depression, insomnia and vasomotor phenomena.

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The objective of this study was to evaluate the quality of life (QL) of a group of menopausal women in the presence or absence of hormone replacement therapy (HRT). It consists of a cross-sectional analytical study involving women from the School Health Center - Unity Village Farmers' and Town Railway on the city of Botucatu. Participants were divided into two related groups of studies: run HRT and do not realize. We used the SF 36 and QRS, and a questionnaire to characterize the study population. No differences were seen when comparing the groups with regard to age, age at menarche and menopause. It was observed that 92% were white women and who have studied up to primary education (p = 0.0209), and those who had a partner (p = 0.0055), were the most reported changes in QL. The most frequent comorbidities were hypertension and diabetes, which is significantly more important in women without HRT. The account of the lower of QL was expressed by 28% of the sample, and the population obtained in MRS score more negative (p, 0.05). The correlation of the eight components of the SF36 and the MRS, with the presence or absence of TRH showed no significant differences. The concept of quality of life and evaluation of it is subjective and individual. However they can notice changes in QL, evidenced by instruments. One can see that menopause is not necessarily accompanied by changes in QL, however, when expressed, tend to be perceived more negatively. Despite the lower level of social and low education and women interviewed have QL as good. There is a need for studies to improve a more real relationship between HRT and QL

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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This review will focus on long-term outcomes after acute kidney injury (AKI). Surviving AKI patients have a higher late mortality compared with those admitted without AKI. Recent studies have claimed that long-term mortality in patients after AKI varied from 15% to 74% and older age, presence of previous co-morbidities, and the incomplete recovery of renal function have been identified as risk factors for reduced survival. AKI is also associated with progression to chronic kidney (CKD) disease and the decline of renal function at hospital discharge and the number and severity of AKI episodes have been associated with progression to CKD. IN the most studies, recovery of renal function is defined as non-dependence on renal replacement therapy which is probably too simplistic and it is expected in 60-70% of survivors by 90 days. Further studies are needed to explore the long-term prognosis of AKI patients.

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Peritoneal dialysis (PD) should be considered a suitable method of renal replacement therapy in acute kidney injury (AKI) patients. This study is the largest cohort providing patient characteristics, clinical practice, patterns and their relationship to outcomes in a developing country. Its objective was to describe the main determinants of patient and technique survival, including trends over time of PD treatment in AKI patients. This was a Brazilian prospective cohort study in which all adult AKI patients on PD were studied from January/2004 to January/2014. For comparison purposes, patients were divided into 2 groups according to the year of treatment: 2004-2008 and 2009-2014. Patient survival and technique failure (TF) were analyzed using the competing risk model of Fine and Gray. A total of 301 patients were included, 51 were transferred to hemodialysis (16.9%) during the study period. The main cause of TF was mechanical complication (47%) followed by peritonitis (41.2%). There was change in TF during the study period: compared to 2004-2008, patients treated at 2009-2014 had relative risk (RR) reduction of 0.86 (95% CI 0.77-0.96) and three independent risk factors were identified: period of treatment at 2009 and 2014, sepsis and age>65 years. There were 180 deaths (59.8%) during the study. Death was the leading cause of dropout (77.9% of all cases) mainly by sepsis (58.3%), followed cardiovascular disease (36.1%). The overall patient survival was 41% at 30 days. Patient survival improved along study periods: compared to 2004-2008, patients treated at 2009-2014 had a RR reduction of 0.87 (95% CI 0.79-0.98). The independent risk factors for mortality were sepsis, age>70 years, ATN-ISS > 0.65 and positive fluid balance. As conclusion, we observed an improvement in patient survival and TF along the years even after correction for several confounders and using a competing risk approach.