Navegando por Autor "STEINER, Carlos Eduardo"

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Acesso aberto (Open Access)
Diagnosis and management of classica homocystinuria in Brazil: a summary of 72 late-diagnosed patients
(Latin American Society Inborn Errors and Neonatal Screening, 2019-02) POLONI, Soraia; HOSS, Giovana Regina Weber; SPERB-LUDWIG, Fernanda; BORSATTO, Taciane; RODOVALHO-DORIQUI, Maria Juliana; LEÃO, Emília Katiane Embiruçu de Araújo; BOA-SORTE, Ney Cristian Amaral; LOURENÇO, Charles Marques; AE KIM, Chong; ROCHA, Hélio Fernandes da; RIBEIRO, Márcia Goncalves; STEINER, Carlos Eduardo; MORENO, Carolina Araujo; BERNARDI, Pricila; VALADARES, Eugênia Ribeiro; ARTIGALÁS, Osvaldo Alfonso Pinto; CARVALHO, Gerson da Silva; WANDERLEY, Hector Yuri Conti; SILVA, Luiz Carlos Santana da; SCHWARTZ, Ida Vanessa Doederlein; SOUZA, Carolina Fischinger Moura de; D'ALMEIDA, Vânia; BLOM, Henk J.
This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Southeast, n = 37; Northeast, n = 8; North, n = 1; and Midwest, n = 1). Parental consanguinity was reported in 42% of families. Ocular manifestations were the earliest detected symptom (53% of cases), the main reason for diagnostic suspicion (63% of cases), and the most prevalent manifestation at diagnosis (67% of cases). Pyridoxine responsiveness was observed in 14% of patients. Only 22% of nonresponsive patients on treatment had total homocysteine levels <100 mmol/L. Most commonly used treatment strategies were pyridoxine (93% of patients), folic acid (90%), betaine (74%), vitamin B12 (27%), and low-methionine diet + metabolic formula (17%). Most patients diagnosed with HCU in Brazil are late diagnosed, express a severe phenotype, and poor metabolic control. Milder forms of HCU are likely underrepresented due to underdiagnosis.
Acesso aberto (Open Access)
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
(2014) DORNELLES, Alicia Dorneles; PINTO, Louise Lapagesse de Carmargo; PAULA, Ana Carolina de; STEINER, Carlos Eduardo; LOURENÇO, Charles Marques; KIM, Chong Ae; HOROVITZ, Dafne Dain Gandelman; RIBEIRO, Erlane Marques; VALADARES, Eugênia Ribeiro; GOULART, Isabela; SOUZA, Isabel Cristina Neves de; NERI, João Ivanildo da Costa Ferreira; SILVA, Luiz Carlos Santana da; SILVA, Luiz Roberto; RIBEIRO, Márcia Gonçalves; OLIVEIRA SOBRINHO, Ruy Pires de; GIUGLIANI, Roberto; SCHWARTZ, Ida Vanessa Doederlein
Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alpha-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires completed by attending physicians at the time of diagnosis (T1; n = 34) and at a median time of 2.5 years later (T2; n = 24/34). The 24 patients for whom data were available at T2 were allocated into groups: A, no ERT (9 patients; median age at T1 = 36 months; 6 with severe phenotype); B, on ERT (15 patients; median age at T1 = 33 months; 4 with severe phenotype). For all variables in which there was no between-group difference at baseline, a delta of ≥ ± 20% was considered clinically relevant. The following clinically relevant differences were identified in group B in T2: lower rates of mortality and reported hospitalization for respiratory infection; lower frequency of hepatosplenomegaly; increased reported rates of obstructive sleep apnea syndrome and hearing loss; and stabilization of gibbus deformity. These changes could be due to the effect of ERT or of other therapies which have also been found more frequently in group B. Our findings suggest MPS I patients on ERT also receive a better overall care. ERT may have a positive effect on respiratory morbidity and overall mortality in patients with MPS I. Additional studies focusing on these outcomes and on other therapies should be performed.