RESUMO
Patients with mucopolysaccharidosis type VI (MPS VI) present with a wide range of disease severity and clinical manifestations, with significant functional impairment and shortened lifespan. Enzyme replacement therapy (ERT) with galsulfase has been shown to improve clinical and biochemical parameters including patient survival, quality of life and growth. The present study is a resurvey of 34 Brazilian MPS VI patients with rapidly progressive disease (classical phenotype) who initiated ERT with galsulfase under five years of age and had been on ERT until data collection in 2019, with few exceptions (n = 4 patients who died before 2019). Anthropometric measures, urinary glycosaminoglycans, and data regarding cardiac, orthopedic, neurologic, sleep apnea, hearing and ophthalmologic outcomes were filled in by specialists. Pubertal development, clinical complications, hospitalizations, and surgeries were also assessed. In this resurvey study, treatment with galsulfase has shown to be safe and well tolerated in MPS VI patients who initiated ERT under the age of 5 years and who have been undergoing ERT for approximately 10 years. Mortality rate suggests that early initiation of ERT may have a positive impact on patients' survival, improving but not preventing disease progression and death. MPS VI patients on ERT also showed improved growth velocity and the pubertal development was normal in all surviving patients. Follow-up data on pneumonia and hospitalization suggest that early ERT may have a protective effect against major respiratory complications. Cardiac valve disease progressed since their prior evaluation and spinal cord compression was observed in a large number of patients, suggesting that these disease complications were not modified by ERT.
Assuntos
Cognição/efeitos dos fármacos , Terapia de Reposição de Enzimas , Mucopolissacaridose VI/terapia , N-Acetilgalactosamina-4-Sulfatase/genética , Adolescente , Brasil/epidemiologia , Criança , Pré-Escolar , Feminino , Glicosaminoglicanos/urina , Humanos , Masculino , Mucopolissacaridose VI/enzimologia , Mucopolissacaridose VI/patologia , Mucopolissacaridose VI/urina , N-Acetilgalactosamina-4-Sulfatase/uso terapêutico , Fenótipo , Qualidade de Vida , Proteínas Recombinantes/genética , Proteínas Recombinantes/uso terapêutico , Índice de Gravidade de DoençaRESUMO
We present here a new and alternative method that uses a Fluorescence Plate Reader in a different approach, not to study protein-protein interactions, but to evaluate the efficiency of the protein bioconjugation to quantum dots (QDs). The method is based on the QDs' native fluorescence and was successfully tested by employing two different QDs-proteins conjugation methodologies, one by promoting covalent binding and other by inducing adsorption processes. For testing, we used bioconjugates between carboxyl coated CdTe QDs and bovine serum albumin, concanavalin A lectin and anti-A antibody. Flow cytometry and fluorescence spectroscopy studies corroborated the results found by the Fluorescence Plate Reader assay. This kind of analysis is important because poor bioconjugation efficiency leads to unsuccessful applications of the fluorescent bioconjugates. We believe that our method presents the possibility of performing semi-quantitative and simultaneous analysis of different samples with accuracy taking the advantage of the high sensitivity of optical based measurements.
Assuntos
Pontos Quânticos , Albumina Sérica/química , Compostos de Cádmio/química , Citometria de Fluxo , Espectrometria de Fluorescência , Telúrio/químicaRESUMO
O reconhecimento e a conduta das patologias requer rotina e embasamento científico dos profissionais da área de saúde. Os autores discutem a conduta frente aos nódulos de subcutâneo baseados no relato de caso de um paciente cujo diagnóstico näo foi realizado por falta de encaminhamento ao estudo anátomo-patológico. Discutem-se os aspectos clínicos, fisiopatológicos e possibilidades terapêuticas na neurofibromatose (Doença de Von Recklinghausen), revisando-se a literatura
