RESUMO
BACKGROUND: Fabry disease is associated with cardiomyopathy, early-onset stroke, and progressive renal failure, and other features. No markers predict multisystemic disease progression. The hypothesis of the current study is to assess a clinically relevant marker for Fabry disease using polymorphic genotyping of a marker that has been shown to be involved in interrelated cardiac, vascular, and renal abnormalities in patients not affected by Fabry disease. The paraoxonase (PON1) polymorphisms, Leu55Met and Gln192Arg, modulate intima-medial artery thickening, prognosis of cardiovascular stroke, and renal failure in other diseases. METHODS: PON1 polymorphisms were ascertained. The Mainz Severity Score Index (MSSI) for Fabry disease was calculated. Local Institutional Review Board approval was received. RESULTS: 104 patients (58 female) and 46 controls (23 female) were evaluated. There was a significant difference (p = 0.04) in PON55LL (42.3%) among patients as compared to controls (21.7%) but none in PON192 genotypes. PON55 variant (MM) was correlated with severe MSSI renal sub-scores (p < 0.001) also when age-adjusted but not with cardiac, neurological, or general sub-scores. PON55LL genotype, correlated with higher PON1 activity, had lowest α-galactosidase-A activity (n = 45). CONCLUSION: There was no combined effect of PON55-PON192 polymorphisms. PON55LL was more common among patients. PON55MM genotype was correlated with non-mild renal sub-scores. However, sample size needs to be enlarged.
Assuntos
Arildialquilfosfatase/genética , Doença de Fabry/enzimologia , Doença de Fabry/genética , Nefropatias/enzimologia , Nefropatias/genética , Polimorfismo Genético/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Estudos de Coortes , Doença de Fabry/diagnóstico , Feminino , Marcadores Genéticos/genética , Humanos , Nefropatias/diagnóstico , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
Although the costs of dengue illness to patients and households have been extensively studied in endemic populations, international travelers have not been the focus of costing studies. As globalization and human travel activities intensify, travelers are increasingly at risk for emerging and reemerging infectious diseases, such as dengue. This exploratory study aims to investigate the impact and out-of-pocket costs of dengue illness among travelers. We conducted a prospective study in adult travelers with laboratory-confirmed dengue and recruited patients at travel medicine clinics in eight different countries from December 2013 to December 2015. Using a structured questionnaire, we collected information on patients and their health-care utilization and out-of-pocket expenditures, as well as income and other financial losses they incurred because of dengue illness. A total of 90 patients participated in the study, most of whom traveled for tourism (74%) and visited countries in Asia (82%). Although 22% reported hospitalization and 32% receiving ambulatory care while traveling, these percentages were higher at 39% and 71%, respectively, after returning home. The out-of-pocket direct and indirect costs of dengue illness were US$421 (SD 744) and US$571 (SD 1,913) per episode, respectively, averaging to a total out-of-pocket cost of US$992 (SD 2,052) per episode. The study findings suggest that international travelers incur important direct and indirect costs because of dengue-related illness. This study is the first to date to investigate the impact and out-of-pocket costs of travel-related dengue illness from the patient's perspective and paves the way for future economic burden studies in this population.