ELISANGELA PEREIRA DE SOUZA QUEDAS
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
LIM/25 - Laboratório de Endocrinologia Celular e Molecular, Hospital das Clínicas, Faculdade de Medicina
LIM/25 - Laboratório de Endocrinologia Celular e Molecular, Hospital das Clínicas, Faculdade de Medicina
6 resultados
Resultados de Busca
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conferenceObject Genetic evaluation in children with self-limited pubertal delay discloses new candidate genes(2023) REZENDE, Raissa; SCHAFER, Evan; KAISINGER, Lena; HE, Wen; ANDRADE, Nathalia; DANTAS, Naiara; CELLIN, Laurana; QUEDAS, Elisangela; PERRY, John; HOWARD, Sasha; LATRONICO, Ana Claudia; CHAN, Yee-Ming; JORGE, AlexanderconferenceObject Several new candidate genes for self-limited delayed puberty revealed by whole exome sequencing(2023) REZENDE, Raissa; SCHAFER, Evan; KAISINGER, Lena; DANTAS, Naiara; ANDRADE, Nathalia; CELLIN, Laurana; QUEDAS, Elisangela; HE, Wen; PERRY, John; XAVIER, Ana Claudia Latronico; HOWARD, Sasha; CHAN, Yee-Ming; JORGE, Alexander- Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome(2019) MALAQUIAS, Alexsandra C.; NORONHA, Renata M.; SOUZA, Thaiana T. O.; HOMMA, Thais K.; FUNARI, Mariana F. A.; YAMAMOTO, Guilherme L.; SILVA, Fernanda Viana; MORAES, Michelle B.; HONJO, Rachel S.; KIM, Chong A.; NESI-FRANCA, Suzana; CARVALHO, Julienne A. R.; QUEDAS, Elisangela P. S.; BERTOLA, Debora R.; JORGE, Alexander A. L.Objectives: The aim of this study was to evaluate the response to recombinant human growth hormone (rhGH) treatment in patients with Noonan syndrome (NS). Materials and Methods: Forty-two patients (35 PTPN11+) were treated with rhGH, and 17 were followed-up until adult height. The outcomes were changes in growth velocity (GV) and height standard deviation scores (SDS) for normal (height-CDC SDS) and Noonan standards (height-NS SDS). Results: The pretreatment chronological age was 10.3 +/- 3.5 years. Height-CDC SDS and height-NS SDS were -3.1 +/- 0.7 and -0.5 +/- 0.6, respectively. PTPN11+ patients had a better growth response than PTPN11- patients. GV SDS increased from -1.2 +/- 1.8 to 3.1 +/- 2.8 after the first year of therapy in PTPN11+ patients, and from -1.9 +/- 2.6 to -0.1 +/- 2.6 in PTPN11- patients. The gain in height-CDC SDS during the first year was higher in PTPN11+ than PTPN11- (0.6 +/- 0.4 vs. 0.1 +/- 0.2, p = 0.008). Similarly, the gain was observed in height-NS SDS (0.6 +/- 0.3 vs. 0.2 +/- 0.2, respectively, p < 0.001). Among the patients that reached adult height (n = 17), AH-CDC SDS and AH-NS SDS were -2.1 +/- 0.7 and 0.7 +/- 0.8, respectively. The total increase in height SDS was 1.3 +/- 0.7 and 1.5 +/- 0.6 for normal and NS standards, respectively. Conclusions: This study supports the advantage of rhGH therapy on adult height in PTPN11+ patients. In comparison, PTPN11- patients showed a poor response to rhGH. However, this PTPN11- group was small, preventing an adequate comparison among different genotypes and no guarantee of response to therapy in genes besides PTPN11. (C) 2019 S. Karger AG, Basel
conferenceObject COMPLETE GROWTH HORMONE GENE (GH1) DELETION IDENTIFIED BY WHOLE EXOME SEQUENCING (WES) DURING THE INVESTIGATION OF SHORT STATURE(2023) CELLIN, L. P.; REZENDE, R. C.; SOUZA, V; ANDRADE, N. L. M.; DANTAS, N. C. B.; QUEDAS, E. P. S.; LERARIO, A. M.; JORGE, A. De Lima- Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys(2022) REZENDE, Raissa C.; NORONHA, Renata Maria; KESELMAN, Ana; QUEDAS, Elisangela P. S.; DANTAS, Naiara C. B.; ANDRADE, Nathalia L. M.; BERTOLA, Debora R.; MALAQUIAS, Alexsandra C.; JORGE, Alexander A. L.Introduction: Pubertal delay is described as one of the clinical features in Noonan syndrome (NS) and it may be one of the factors causing short adult height in those patients. The present study aimed at characterizing pubertal development in NS and identifying pubertal delay predictors. Methods: We analyzed 133 individuals with a molecular diagnosis of NS and clinical puberty evaluation. We characterized delayed puberty as pubertal onset after 12 years in girls and 13.5 years in boys, according to parameters of the Brazilian population. To investigate its predictors, we correlated the age at onset of puberty with several characteristics and genotype in a multilevel regression model. For comprehending pubertal development in NS, we assessed age and anthropometric measures at each Tanner stage and adult age. Results: The mean age at puberty onset for girls was 11.9 +/- 1.9 years and for boys, 12.5 +/- 1.7 years, significantly later than the Brazilian population (p = 0.025; p < 0.001). Girls (49.1%) presented delayed puberty more frequently than boys (27.9%, p = 0.031). Body mass index standard deviation scores (SDS) and insulin growth factor 1 SDS at puberty onset significantly predicted later puberty entry. Height gain from the onset of puberty to adult height was lower in children with pubertal delay. Conclusion: Pubertal delay is characteristically found in children with NS, more frequently in females. The low weight of patients with NS could modulate the age of puberty, just as the increase in overweight/obesity in the general population has shown an effect on reducing the age of onset of puberty.
conferenceObject A prospective genetic analysis of children with idiopathic short stature (ISS) using whole-exome sequencing (WES): first results(2023) CELLIN, Laurana P.; ANDRADE, Nathalia L. M.; REZENDE, Raissa C.; SOUZA, Vinicius de; DANTAS, Naiara C. B.; QUEDAS, Elisangela P. S.; FUNARI, Mariana F. A.; VASQUES, Gabriela A.; SCALCO, Renata C.; MALAQUIAS, Alexsandra A. C.; JORGE, Alexander A. L.