DIOGO CORDEIRO DE QUEIROZ SOARES
Projetos de Pesquisa
Unidades Organizacionais
LIM/03 - Laboratório de Medicina Laboratorial, Hospital das Clínicas, Faculdade de Medicina
6 resultados
Resultados de Busca
Agora exibindo 1 - 6 de 6
conferenceObject Next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in 22q11.2 deletion syndrome patients(2019) DANTAS, A. G.; NUNES, N.; KIM, C. A.; SOARES, D. C. Q.; MELONI, V. A.; BELANGERO, S. I.; CARVALHEIRA, G. G.; MELARAGNO, M. I.conferenceObject Investigation of copy number variations as possible genetic modifiers in patients with the 22q11.2 deletion syndrome(2023) NUNES, Beatriz Carvalho; ZAMARIOLLI, Malu; DANTAS, Anelisa Gollo; SOARES, Diogo Cordeiro Queiroz; KIM, Chong Ae; MELARAGNO, Maria Isabel- Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings(2016) FRANCO, J. F.; SOARES, D. C.; TORRES, L. C.; LEAL, G. N.; CUNHA, M. T.; HONJO, R. S.; BERTOLA, D. R.; KIM, C. A.Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive multisystem lysosomal storage disorder, which is characterized by the deficiency of the enzyme arylsulfatase B encoded by the ARSB gene. Treatment of this disease with enzyme-replacement therapy (ERT) improves the clinical status of and generates hope for MPS VI patients. However, only few reports on patients with MPS VI treated before 5 years of age have been published. Thus, the objective of this study was to compare the clinical parameters of two sisters affected by MPS VI who started ERT at different ages (9 years and 1 year 5 months, respectively) and to determine the most relevant clinical impacts of early treatment after 85 months of evaluation. The treatment was well tolerated by both siblings. ERT in the younger sibling resulted in increased growth, an improved 6-minute walk test, less coarse face, slower progression of cardiac valve disease, and the absence of compressive myelopathy compared to that in her older sister. On the other hand, the older sibling had typical MPS VI phenotypic features before the commencement of ERT. Corneal clouding, clawed hands, and progressive skeletal changes were observed in both siblings despite the treatment. Both siblings displayed reduced frequencies of upper respiratory infections and apnea indices. This study emphasizes that early diagnosis and treatment of MPS VI are critical for a better disease outcome and to enhance the quality of life for these patients.
conferenceObject Investigation of indel variants in candidate-gene panel for 22q11.2 deletion syndrome(2020) NUNES, N.; DANTAS, A. G.; ZAMARIOLLI, M.; SOARES, D. C. Q.; SANTOS, L. C. dos; MELONI, V. A.; BELANGERO, S. I.; GIL-DA-SILVA-LOPES, V. L.; KIM, C. A.; MELARAGNO, M. I.conferenceObject Differential cytogenomic diagnosis in five patients with 8p23.1 deletion suggesting 22q11.2 deletion syndrome(2018) ZANARDO, E. A.; MONTENEGRO, M. M.; SOARES, D. C. Q.; GRASSI, M. S.; NOVO-FILHO, G. M.; MADIA, F. A. R.; NASCIMENTO, A. M.; CHEHIMI, S. N.; DAMASCENO, J. G.; HONJO, R. S.; CARNEIRO-SAMPAIO, M. M.; KIM, C. A.; KULIKOWSKI, L. D.conferenceObject Phenotypic heterogeneity in 22q11.2 deletion syndrome: CNVs as genetic modifiers for congenital heart disease in a Brazilian cohort(2020) ZAMARIOLLI, M.; DANTAS, A. G.; NUNES, N.; MOYSES-OLIVEIRA, M.; SGARDIOLI, I. C.; SOARES, D. C. Q.; GIL-DA-SILVA-LOPES, V. L.; KIM, C. A.; MELARAGNO, M. I.