11 documents found, page 1 of 2
Oxidative stress assessment by glutathione peroxidase activity and glutathione ...
Oliveira-Silva,José Araújo de; Yamamoto,Joyce Umbelino Pinto; Oliveira,Renata Bernardes de; Monteiro,Vaneisse Cristina LimaAbstract We assessed levels of plasma selenium (Se), selenoproteins and their change after Se supplementation in patients with mucopolysaccharidosis (MPS) types I, II and VI. This was done in a retrospective study of the medical records of 30 patients with MPS I (n=13), MPS II (n=9) and MPS VI (n=8) who were being treated with enzyme replacement therapy. As part of routine nutritional monitoring, Se levels were...
CASE SERIES OF PATIENTS UNDER BIWEEKLY TREATMENT WITH LARONIDASE: A REPORT OF A...
Kyosen,Sandra Obikawa; Toma,Leny; Nader,Helena Bonciani; Braga,Marion Coting; Pereira,Vanessa Gonçalves; Canossa,Sueli; Pesquero,João BoscoABSTRACT Objective: To report the stabilization of urinary glycosaminoglicans (GAG) excretion and clinical improvements in patients with mucopolysaccharidosis type I (MPS I) under an alternative dose regimen of laronidase of 1.2 mg/kg every other week. Methods: We participated in a dose-optimization trial for laronidase in MPS-I patients using four alternative regimens: 0.58 mg/kg every week, 1.2 mg/kg every tw...
Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role
Jesus,Patricia Moraes Resende de; Martins,Ana Maria; Chiacchio,Nilton Di; Aranda,Carolina SanchezAbstract: Fabry disease is a rare lysosomal storage disorder, inherited in an X-linked manner. It is characterized by the deficiency of the enzyme alpha-galactosidase, leading to a buildup of glycosphingolipids in the cells. Angiokeratoma is one of the cutaneous manifestations of this condition, and it helps making the diagnosis. The typical site involves the genital area in men and lumbosacral, buttocks and tr...
Ordem de palavras e polaridade: inversão nominal negativa com algum / alguno e ...
Martins,Ana MariaEste trabalho trata do contraste interpretativo que resulta da colocação pré-nominal ou pós-nominal do quantificador indefinido algum (e.g. alguma coisa vs. coisa alguma) e procura explicar, numa perspetiva formal, diacrónica e comparativa, a relação entre ordem de palavras e polaridade (i.e., a oposição positivo/negativo). A análise proposta explora a hipótese de paralelismo estrutural entre frases e expressõe...
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Lat...
Giugliani,Roberto; Villarreal,Martha Luz Solano; Valdez,C. Araceli Arellano; Hawilou,Antonieta Mahfoud; Guelbert,Norberto; Garzón,Luz Norela CorreaThis review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely...
Revisão sistemática das escalas utilizadas para avaliação funcional na doença d...
Savegnago,Alana Karla; Silva,Rosângela Maria da; Jonhston,Cíntia; Martins,Ana Maria; Melo,Ana Paula L. de; Carvalho,Werther Brunow deOBJETIVO: Identificar as escalas utilizadas para avaliação funcional na doença de Pompe (DP) e descrever seu nível de evidência e recomendação. FONTES DE DADOS: Revisão sistemática sobre as escalas de avaliação funcional na DP. Pesquisa realizada nos bancos de dados Medline, Lilacs, Registro Cochrane de Ensaios Controlados Central (CCTR) e SciELO com artigos (exceto artigos de revisão) publicados entre 2000 e 2...
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...
Menkes disease: case report of an uncommon presentation with white matter lesions
Santos,Lúcia Maria Guimarães; Teixeira,Carla da Silva; Vilanova,Luiz Celso Pereira; Micheletti,Cecilia; Mendes,Carmem Silvia Curiati; Borri,Maria LuciaMenkes disease is a rare X-linked disorder related to a defect in the copper metabolism. According to the current literature, the most frequent neuroimaging findings are cortical atrophy, chronic subdural effusion or hygroma, and vascular abnormalities. White matter lesions may be present before other features of the disease and may evolve into atrophy. We hereby report a case of Menkes disease with typical his...
Screening for inborn errors of metabolism among newborns with metabolic disturb...
Oliveira,Allan Chiaratti de; Santos,Amélia Miyashiro Nunes dos; Martins,Ana Maria; D'Almeida,VâniaCONTEXT: Inborn Errors of Metabolism are hereditary affections resulting from incompetence in enzymatic reactions of intermediary metabolism. At present, several hundred hereditary metabolic disturbances are known, many of which correspond to severe life-threatening disorders. OBJECTIVE: The early detection of carriers has motivated the screening for these disturbances among newborns at the Neonatal Unit of Hos...