Navegando por Palavras-chave "Maroteaux-Lamy syndrome"
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- ItemSomente MetadadadosClinical and biochemical study of 28 patients with mucopolysaccharidosis type VI(Blackwell Munksgaard, 2004-09-01) Azevedo, ACMM; Schwartz, IV; Kalakun, L.; Brustolin, S.; Burin, M. G.; Beheregaray, APC; Leistner, S.; Giugliani, C.; Rosa, M.; Barrios, P.; Marinho, D.; Esteves, P.; Valadares, E.; Boy, R.; Horovitz, D.; Mabe, P.; Silva, LCS da; Souza, ICN de; Ribeiro, M.; Martins, A. M.; Palhares, D.; Kim, C. A.; Giugliani, R.; Hosp Clin Porto Alegre; UFRGS; Universidade Federal de Minas Gerais (UFMG); Universidade do Estado do Rio de Janeiro (UERJ); Fiocruz MS; INTA; Fed Univ Para; Universidade Federal do Rio de Janeiro (UFRJ); Universidade Federal de São Paulo (UNIFESP); Fed Univ Mato Grosso do Sol; Universidade de São Paulo (USP)This paper presents data collected by a Brazilian center in a multinational multicenter observational study of patients with mucopolysaccharidosis type VI (MPS VI), aiming at determining the epidemiological, clinical, and biochemical profile of these patients. Twenty-eight south-American patients with MPS VI were evaluated through medical interview, physical exam, echocardiogram, electrocardiogram, ophthalmologic evaluation, quantification of glycosaminoglycans (GAGs) in urine, and measurement of the activity of N-acetylgalactosamine-4-sulfatase (ARSB) in leukocytes. 92.9% of patients were Brazilian. Mean age at diagnosis and at evaluation was 48.4 months and 97.1 months, respectively. 88% of patients had onset of symptomatology before the age of 36 months. Consanguinity was reported by 27% of the families. Mean weight and height at birth were 3.481 kg and 51.3 cm, respectively. the most frequently reported clinical manifestations were short stature, corneal clouding, coarse facial features, joint contractures, and claw hands. All patients presented with echocardiogram changes as well as corneal clouding. Mean ARSB activity in leukocytes was 5.4 nmoles/h/mg protein (reference values: 72-174), and urinary excretion of GAGs was on average 7.9 times higher than normal. the number of clinical manifestations did not show a significant correlation with the levels of urinary GAGs nor with the ARSB activity. Also, no significant correlation was found between the levels of urinary GAGs and the ARSB activity. It was concluded that MPS VI has high morbidity and that, when compared with data published in the literature, patients in our study were diagnosed later and presented with a higher frequency of cardiological findings.
- ItemSomente MetadadadosExpert recommendations for the laboratory diagnosis of MPS VI(Elsevier B.V., 2012-05-01) Wood, T.; Bodamer, O. A.; Burin, M. G.; D'Almeida, V. [UNIFESP]; Fietz, M.; Giugliani, R.; Hawley, S. M.; Hendriksz, C. J.; Hwu, W. L.; Ketteridge, D.; Lukacs, Z.; Mendelsohn, N. J.; Miller, N.; Pasquali, M.; Schenone, A.; Schoonderwoerd, K.; Winchester, B.; Harmatz, P.; Greenwood Genet Ctr; Univ Miami; Hosp Clin Porto Alegre; Universidade Federal de São Paulo (UNIFESP); Women & Childrens Hosp; Univ Fed Rio Grande do Sul; BioMarin Pharmaceut Inc; Birmingham Childrens Hosp NHS Fdn Trust; Natl Taiwan Univ Hosp; Dept Pediat; Inst Clin Chem; Childrens Hosp & Clin Minnesota; Univ Utah; Fdn Estudio Enfermedades Neurometab FESEN; Erasmus MC; UCL Inst Child Hlth; Childrens Hosp OaklandMucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B, ASB). This enzyme is required for the degradation of dermatan sulfate. in its absence, dermatan sulfate accumulates in cells and is excreted in large quantities in urine. Specific therapeutic intervention is available; however, accurate and timely diagnosis is crucial for maximal benefit. To better understand the current practices for diagnosis and to establish diagnostic guidelines, an international MPS VI laboratory diagnostics scientific summit was held in February of 2011 in Miami, Florida. the various steps in the diagnosis of MPS VI were discussed including urinary glycosaminoglycan (uGAG) analysis, enzyme activity analysis, and molecular analysis. the following conclusions were reached. Dilute urine samples pose a significant problem for uGAG analysis and MPS VI patients can be missed by quantitative uGAG testing alone as dermatan sulfate may not always be excreted in large quantities. Enzyme activity analysis is universally acknowledged as a key component of diagnosis; however, several caveats must be considered and the appropriate use of reference enzymes is essential. Molecular analysis supports enzyme activity test results and is essential for carrier testing, subsequent genetic counseling, and prenatal testing. Overall the expert panel recommends caution in the use of uGAG screening alone to rule out or confirm the diagnosis of MPS VI and acknowledges enzyme activity analysis as a critical component of diagnosis. Measurement of another sulfatase enzyme to exclude multiple sulfatase deficiency was recommended prior to the initiation of therapy. When feasible, the use of molecular testing as part of the diagnosis is encouraged. A diagnostic algorithm for MPS VI is provided. (C) 2012 Elsevier Inc. All rights reserved.
- ItemSomente MetadadadosFindings in the anterior segment on ultrasound biomicroscopy in Maroteaux-Lamy syndrome(Lippincott Williams & Wilkins, 2001-04-01) Casanova, FHC; Adan, CBD; Allemann, N.; Freitas, D. de; Universidade Federal de São Paulo (UNIFESP)Purpose. Maroteaux-Lamy syndrome is one of the mucopolysaccharidoses caused by enzyme deficiency (arylsulfatase B) that leads to incomplete degradation and storage of dermatan sulfate. We report a case of mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) with corneal involvement and introduce ultrasound biomicroscopy (UBM) as an examination with which to follow disease progression in relation to deposition in cornea, angle, and iris, Methods. We describe a Ii-year-old boy with a clinical and laboratorial diagnosis of MPS VI who developed increasing bilateral corneal opacification and decreased visual acuity. He underwent two seriate UBM (50-MHz transducer) evaluations. Results. UBM examination showed diffuse and homogeneous stromal hyper-reflective deposit in both eyes and an increase in peripheral corneal thickness throughout time. Conclusion. High-frequency ultrasound documentation of corneal deposit and anterior segment involvement in a patient with Maroteaux-Lamy syndrome is unique, and follow-up revealed thickening of the corneal periphery, which may be related to the progression of the disease (continuous mucopolysaccharide deposits in corneal stroma). UBM was used to locate and document the deposit, as well as to accompany the deposit's evolution, characterizing corneal changes and angle structure involvement.
- ItemAcesso aberto (Open Access)Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment(Sociedade Brasileira de Genética, 2010-01-01) Giugliani, Roberto; Federhen, Andressa; Munoz Rojas, Maria Verônica; Vieira, Taiane; Artigalás, Osvaldo; Lapagesse Pinto, Louise; Azevedo, Ana Cecília; Acosta, Angelina; Bonfim, Carmen; Lourenço, Charles Marques; Chong Ae, Kim; Horovitz, Dafne; Bonfim, Denize; Norato, Denise; Marinho, Diane; Palhares, Durval; Santos, Emerson Santana; Ribeiro, Erlane; Valadares, Eugênia; Guarany, Fábio; Lucca, Gisele Rosone De; Pimentel, Helena; Souza, Isabel Neves de; Corrêa Neto, Jordão [UNIFESP]; Fraga, José Carlos; Goes, José Eduardo; Cabral, José Maria; Simionato, José; Llerena Junior, Juan; Jardim, Laura; Giuliani, Liane; Silva, Luiz Carlos Santana da; Santos, Mara L.; Moreira, Maria Angela; Kerstenetzky, Marcelo; Ribeiro, Márcia; Ruas, Nicole; Barrios, Patricia; Aranda, Paulo; Honjo, Rachel; Boy, Raquel; Costa, Ronaldo; Souza, Carolina; Alcantara, Flavio F.; Avilla, Silvio Gilberto A.; Fagondes, Simone; Martins, Ana Maria [UNIFESP]; Rede MPS Brasil; Hospital de Clínicas de Porto Alegre Serviço de Genética Médica; Grupo Hospitalar Conceição; Universidade Federal da Bahia; Universidade Federal do Paraná Hospital das Clínicas; Universidade de São Paulo (USP); Fundação Oswaldo Cruz Instituto Fernandes Figueira; Universidade de Brasília Hospital Universitário; Pontifícia Universidade Católica; Hospital de Clínicas de Porto Alegre Serviço de Oftalmologia; Universidade Federal do Mato Grosso do Sul; Universidade Estadual de Ciências da Saúde; Hospital Geral Albert Sabin; Universidade Federal de Minas Gerais Escola de Medicina; Hospital de Clínicas de Porto Alegre Serviço de Fisiatria e Reabilitação; Universidade Federal do Rio Grande do Su Faculdade de Medicina; Universidade Federal do Amazonas; Hospital Infantil; Universidade Federal do Mato Grosso do Sul Departamento de Pediatria; Hospital Infantil Pequeno Príncipe; Hospital de Clínicas Unidade de Fisiologia Pulmonar; Hospital da Restauração; Universidade Federal do Rio de Janeiro Instituto Martagão Gesteira; Hospital de Clínicas de Porto Alegre Serviço de Cardiologia; Hospital Evangélico; Universidade Estadual do Rio de Janeiro; Hospital de Clínicas de Porto Alegre Serviço de Anestesiologia e Medicina Perioperativa; Sociedade Brasileira de Patologia Clínica Medicina Laboratorial; Associação Brasileira de Cirurgia Pediátrica; Sociedade Brasileira de Pneumologia e Tisiologia; Universidade Federal de São Paulo (UNIFESP)Mucopolysaccharidoses (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, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.