ABSTRACT Objective: To identify the salivary metabolites profile of Mucopolysaccharidosis (MPS) types I, II, IV, and VI patients. Material and Methods: The participants were asked to refrain from eating and drinking for one hour before sampling, performed between 7:30 and 9:00 a.m. Samples were centrif...
Abstract Mucopolysaccharidosis (MPS) are a group of rare genetic inherited diseases with a progressive course due to the accumulation of glycosaminoglycans resulting in anatomic abnormalities and organ dysfunction, including the respiratory, cardiovascular, skeletal, and neurological systems that can inc...
Mucopolysaccharidoses correspond to the set of congenital defects of metabolism in which there is a déficit for the processing of glycosaminoglycans, at the moment the risks of complications in the respiratory tract and neurological associated with abnormal deposits of intermediate metabolites of metabo...
INTRODUCTION: Mucopolysacrydasis (MPS) is a group of diseases that consist of enzymatic deficiencies and are characterized by the lysosomal accumulation of glycosaminoglycans (GAG). The majority of patients with MPS during the course of their disease will require anesthesia for diagnostic procedures or s...
Cardiomiopatía Dilatada/diagnóstico por imagen,
Mucopolisacaridosis/diagnóstico,
Mucopolisacaridosis/complicaciones,
Terapia de Reemplazo Enzimático/métodos,
Trasplante de Células Madre Hematopoyéticas/métodos,
Cardiomegalia/complicaciones,
Hidrocefalia/complicaciones,
Insuficiencia Cardíaca/tratamiento farmacológico,
Ecocardiografía/métodos,
Radiografía Torácica/métodos,
Electrocardiografía/métodos
Os indivíduos com doenças genéticas raras podem apresentar alterações no sistema
nervoso e/ou musculoesquelético, inclusive comprometimento cognitivo, distúrbios
neuropsicomotores, más formações craniofaciais e alterações oclusais e dentárias.
Posição alterada dos dentes na arcada, altera�...
Abstract Mucopolysaccharidosis (MPS) is a group of rare and inherited metabolic disorders caused by the accumulation of macromolecule glycosaminoglycans inside lysosomes. Affected individuals may have dental and craniofacial tissue alterations, facilitating the development of several oral diseases. Obje...
Mucopolisacaridosis es una rara enfermedad que afecta al metabolismo de los mucopolisacaridos debida a la ausencia o deficiencia de las enzimas encargadas de su síntesis lo que produce depósitos de aminoglucósidos en casi todos los tejidos del organismo. De acuerdo a la enzima faltante se clasifican l...
Abstract Objective: To assess the functional independence of a group of patients with mucopolysaccharidosis using the Functional Independence Measure as a tool that accomplishes this purpose. Methods: This is a cross-sectional study of patients with mucopolysaccharidosis. Our data was collected between...
Cognición/fisiología,
Estado Funcional,
Mucopolisacaridosis/fisiopatología,
Estatura,
Peso Corporal,
Intervalos de Confianza,
Estudios Transversales,
Locomoción,
Limitación de la Movilidad,
Mucopolisacaridosis I/fisiopatología,
Mucopolisacaridosis II/fisiopatología,
Mucopolisacaridosis VI/fisiopatología,
Autocuidado
As doenças genéticas raras são consideradas eventos patológicos de origem genética de baixa ocorrência e com ampla diversidade de sinais e sintomas. Geralmente, indivíduos acometidos com doenças raras apresentam alterações musculares, esqueléticas e do sistema nervoso central. Muitas manifesta...
