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, AlexanderconferenceObject 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.- Case report: Insulinomatosis: description of four sporadic cases and review of the literature(2024) JR, Delmar Muniz Lourenco; CORREA-GIANNELLA, Maria Lucia; SIQUEIRA, Sheila Aparecida Coelho; NERY, Marcia; RIBEIRO, Flavio Galvao; QUEDAS, Elizangela Pereira de Souza; ROCHA, Manoel de Souza; NASCIMENTO, Ramon Marcelino do; PEREIRA, Maria Adelaide AlbergariaThe best-known etiologies of hyperinsulinemic hypoglycemia are insulinoma, non-insulinoma pancreatogenous hypoglycemic syndrome, autoimmune processes, and factitious hypoglycemia. In 2009, a disease not associated with classic genetic syndromes and characterized by the presence of multiple pancreatic lesions was described and named insulinomatosis. We present the clinical and pathologic features of four patients with the diagnosis of insulinomatosis, aggregated new clinical data, reviewed extensively the literature, and illustrated the nature and evolution of this recently recognized disease. One of our patients had isolated (without fasting hypoglycemia) postprandial hypoglycemia, an occurrence not previously reported in the literature. Furthermore, we reported the second case presenting malignant disease. All of them had persistent/recurrent hypoglycemia after the first surgery even with pathology confirming the presence of a positive insulin neuroendocrine tumor. In the literature review, 27 sporadic insulinomatosis cases were compiled. All of them had episodes of fasting hypoglycemia except one of our patients. Only two patients had malignant disease, and one of them was from our series. The suspicion of insulinomatosis can be raised before surgery in patients without genetic syndromes, with multiple tumors in the topographic investigation and in those who had persistent or recurrent hypoglycemia after surgical removal of one or more tumors. The definitive diagnosis is established by histology and immunohistochemistry and requires examination of the ""macroscopically normal pancreas."" Our case series reinforces the marked predominance in women, the high frequency of recurrent hypoglycemia, and consequently, a definitive poor response to the usual surgical treatment.