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Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
Giugliani,Roberto; Federhen,Andressa; Muñoz Rojas,Maria Verônica; Vieira,Taiane; Artigalás,Osvaldo; Lapagesse Pinto,Louise; Azevedo,Ana CecíliaMucopolysaccharidoses (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, treat...
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recome...
Giugliani,Roberto; Federhen,Andressa; Muñoz Rojas,Maria Verónica; Vieira,Taiane Alves; Artigalás,Osvaldo; Pinto,Louise Lapagesse CarmargoAs mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela deficiência de enzimas lisossômicas específicas que afetam o catabolismo de glicosaminoglicanos (GAG). O acúmulo de GAG em vários órgãos e tecidos nos pacientes afetados pelas MPS resulta em uma série de sinais e sintomas, integrantes de um quadro clínico multissistêmico que compromete ossos e articulações, vias respiratórias, sistema cardi...
Nucleolar Organizer Region (NORs) in pseudocarcinomatous hyperplasia and squamo...
Altemani,Albina Messias de Almeida Milani; Crespo,Agrício; Cardinalli,lzilda Aparecida; Norato,DeniseCounts of nucleolar regions (NORs) demonstrated by a silver staining technique in paraffin sections, have been used to distinguish benign from malignant lesions. AgNORs were studied in 24 biopsies from oral cavity (5 cases of normal oral mucosa, 5 of pseudocarcinomatous hyperplasia and 14 of squamous cell carcinoma, subdivided according to degree of differentiation: 5 grade 1, 5 grade 2 and 4 grade 3) to find w...