CAROLINE DE GOUVEIA BUFF PASSONE
Projetos de Pesquisa
Unidades Organizacionais
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina
7 resultados
Resultados de Busca
Agora exibindo 1 - 7 de 7
- Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families(2017) SANTANA, L. S.; CAETANO, L. A.; COSTA-RIQUETTO, A. D.; QUEDAS, E. P. S.; NERY, M.; COLLETT-SOLBERG, P.; BOGUSZEWSKI, M. C. S.; VENDRAMINI, M. F.; CRISOSTOMO, L. G.; FLOH, F. O.; ZARABIA, Z. I.; KOHARA, S. K.; GUASTAPAGLIA, L.; PASSONE, C. G. B.; SEWAYBRICKER, L. E.; JORGE, A. A. L.; TELES, M. G.Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. GCK-MODY and HNF1A-MODY are the prevalent subtypes. Currently, there is growing concern regarding the correct interpretation of molecular genetic findings. The American College of Medical Genetics and Genomics (ACMG) updated guidelines to interpret and classify molecular variants. This study aimed to determine the prevalence of MODY (GCK/HNF1A) in a large cohort of Brazilian families, to report variants related to phenotype, and to classify them according to ACMG guidelines. One hundred and nine probands were investigated, 45% with clinical suspicion of GCK-MODY and 55% with suspicion of HNF1A-MODY. Twenty-five different variants were identified in GCK gene (30 probands61% of ositivity), and 7 variants in HNF1A (10 probands17% of positivity). Fourteen of them werenovel (12GCK/2HNF1A). ACMG guidelines were able to classify a large portion of variants as athogenic (36%GCK/86%HNF1A) and likely pathogenic (44%GCK/14%HNF1A), with 16% (5/32) as uncertain significance. This allows us to determine the pathogenicity classification more efficiently, and also reinforces the suspected associations with the phenotype among novel variants.
- Translation and validation of diabetes self-management profile (DSMP) into Brazilian Portuguese language: first instrument to assess type 1 diabetes self-management in a pediatric population(2017) PASSONE, Caroline Gouveia Buff; ESTEVES, Lygia Spassapan Oliveira; SAVOLDELLI, Roberta Dias; HARRIS, Michael A.; DAMIANI, Durval; MANNA, Thais DellaObjective: To translate and validate the instrument Diabetes Self-Management Profile (DSMP)-Conventional and Flexible Regimens into Brazilian Portuguese language in order to evaluate the quality of diabetes self-management in children and adolescents with type 1 diabetes and their caregivers. Methods: DSMP was submitted to forward and back translation method and validated in a group of type 1 diabetes youths between 6 and 18 years (n = 102), and their families. Analysis of DSMP internal consistency, intra and interobserver reliability and concurrent correlation with HbA1c were done. Results: DSMP total scores demonstrated adequate internal consistency (Cronbach's alpha = 0.79), 3-month test-retest reliability (rho = 0.53; p < 0.001), inter-interviewer agreement (rho = 0.55; p < 0.001). DSMP total score was significantly correlated to HbA1c (rho = -0.54, p < 0.001). Conclusion: DSMP-translated version is a reliable and valid tool to assess diabetes self-management.
conferenceObject THE BEHAVIOR OF VITAMIN D IN PRADER-WILLI SYNDROME(2017) POZETTI, Priscila; MULLER, Marina C.; PASSONE, Caroline B.; ITO, Simone S.; MENEZES, Hamilton; COMINATO, Louise; FRANCO, Ruth R.; DAMIANI, DurvalconferenceObject THE CHOICE OF SOCIAL SEX IN PATIENTS WITH ATYPICAL GENITALIA(2017) TEIXEIRA, Tathiana L.; MARTIN, Selma R. C. San; CESPEDES, Wendy J.; ITO, Simone S.; FERREIRA, Marianna R.; SANNICOLA, Bruna; STEINMETZ, Leandra; COMINATO, Louise; ROCHA, Ruth; PASSONE, Caroline; FILHO, Hamilton C. M.; DAMIANI, DurvalconferenceObject OVOTESTICULAR DSD: PATIENTS FROM THE CHILDREN'S INSTITUTE OF SAO PAULO/BRAZIL (HCFMUSP)(2017) MARTIN, Selma R. C. San; TEIXEIRA, Tathiana L.; FERREIRA, Marianna R.; BRIGATTI, Nathalia L.; CESPEDES, Wendy J.; ASSIS, Luisa H.; ARAUJO, Mariana B.; STEINMETZ, Leandra; FRANCO, Ruth R.; COMINATO, Louise; PASSONE, Caroline; DAMIANI, DurvalconferenceObject TYPE 1 DIABETES, POLYENDOCRINOPATHY AND SJOGREN SYNDROME: A RARE ASSOCIATION IN CHILDREN(2017) SEMER, Beatriz; ARAUJO, Mariana B.; ASSIS, Luisa H.; TEIXEIRA, Tathiana L.; SANNICOLA, Bruna; CESPEDES, Wendy J.; PINHEIRO, Claudia T. C.; PASSONE, Caroline B.; MANNA, Thais Della; DAMIANI, DurvalconferenceObject X-LINKED ADRENOLEUKODYSTROPHY - A GENERAL PICTURE OF THE PATIENTS OF INSTITUTO DA CRIANCA DO HCFMUSP(2017) SEMER, Beatriz; MARTIN, Selma R. C. San; QUEIROZ, Edjane S.; RACHID, Ludmilla R. O.; ITO, Simone S.; PASSONE, Caroline B.; COMINATO, Louise; FRANCO, Ruth R.; STEINMETZ, Leandra; FILHO, Hamilton C. M.; DAMIANI, Durval