RAISSA CARNEIRO REZENDE
Índice h a partir de 2011
3
Projetos de Pesquisa
Unidades Organizacionais
LIM/25 - Laboratório de Endocrinologia Celular e Molecular, Hospital das Clínicas, Faculdade de Medicina
12 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 12
- Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature(2022) ANDRADE, Nathalia Liberatoscioli Menezes; FUNARI, Mariana Ferreira de Assis; MALAQUIAS, Alexsandra Christianne; COLLETT-SOLBERG, Paulo Ferrez; GOMES, Nathalia L. R. A.; SCALCO, Renata; DANTAS, Naiara Castelo Branco; REZENDE, Raissa C.; TIBURCIO, Angelica M. F. P.; SOUZA, Micheline A. R.; FREIRE, Bruna L.; V, Ana C. Krepischi; LONGUI, Carlos Alberto; LERARIO, Antonio Marcondes; ARNHOLD, Ivo J. P.; JORGE, Alexander A. L.; VASQUES, Gabriela AndradeObjectiveMost children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS). This study aimed to determine the diagnostic yield of a multigene analysis in children classified as ISS. Design and methodsWe selected 102 children with ISS and performed the genetic analysis as part of the initial investigation. We developed customized targeted panel sequencing, including all genes already implicated in the isolated short-stature phenotype. Rare and deleterious single nucleotide or copy number variants were assessed by bioinformatic tools. ResultsWe identified 20 heterozygous pathogenic (P) or likely pathogenic (LP) genetic variants in 17 of 102 patients (diagnostic yield = 16.7%). Three patients had more than one P/LP genetic alteration. Most of the findings were in genes associated with the growth plate differentiation: IHH (n = 4), SHOX (n = 3), FGFR3 (n = 2), NPR2 (n = 2), ACAN (n = 2), and COL2A1 (n = 1) or involved in the RAS/MAPK pathway: NF1 (n = 2), PTPN11 (n = 1), CBL (n = 1), and BRAF (n = 1). None of these patients had clinical findings to guide a candidate gene approach. The diagnostic yield was higher among children with severe short stature (35% vs 12.2% for height SDS <= or > -3; P = 0.034). The genetic diagnosis had an impact on clinical management for four children. ConclusionA multigene sequencing approach can determine the genetic etiology of short stature in up to one in six children with ISS, removing the term idiopathic from their clinical classification.
- Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study(2022) DANTAS, Naiara C. B.; FUNARI, Mariana F. A.; VASQUES, Gabriela A.; ANDRADE, Nathalia L. M.; REZENDE, Raissa C.; BRITO, Vinicius; SCALCO, Renata C.; ARNHOLD, Ivo J. P.; MENDONCA, Berenice B.; JORGE, Alexander A. L.Introduction: Isolated SHOX haploinsufficiency is a common monogenic cause of short stature. Few studies compare untreated and rhGH-treated patients up to adult height (AH). Our study highlights a growth pattern from childhood to AH in patients with SHOX haploinsufficiency and analyzes the real-world effectiveness of rhGH alone or plus GnRH analog (GnRHa). Methods: Forty-seven patients (18 untreated and 29 rhGH-treated) with SHOX haploinsufficiency were included in a longitudinal retrospective study. Adult height was attained in 13 untreated and 18 rhGH-treated (rhGH alone [n = 8] or plus GnRHa [n = 10]) patients. Results: The untreated group decreased height SDS from baseline to AH (-0.8 [-1.1; -0.4]), with an increase in the prevalence of short stature from 31% to 77%. Conversely, the rhGH-treated group had an improvement in height SDS from baseline to AH (0.6 [0.2; 0.6]; p < 0.001), with a reduction in the prevalence of short stature (from 61% to 28%). AH in the rhGH-treated patients was 1 SD (6.3 cm) taller than in untreated ones. Regarding the use of GnRHa, the subgroups (rhGH alone or plus GnRHa) attained similar AH, despite the higher prevalence of pubertal patients and worse AH prediction at the start of rhGH treatment in patients who used combined therapy. Conclusion: The use of rhGH treatment improves AH in patients with SHOX haploinsufficiency, preventing the loss of height potential during puberty. In peripubertal patients, the addition of GnRHa to rhGH allows AH attainment similar to the AH of patients who start rhGH alone in the prepubertal age. (C) 2022 S. Karger AG, Basel
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 IDENTIFICATION OF NEW GENETIC MODIFIERS OF THE PHENOTYPE IN SHOX HAPLOINSUFFICIENCY(2023) DANTAS, N. C. B.; FUNARI, M. F.; ANDRADE, N. L. M.; REZENDE, R. C.; CELLIN, L. P.; LERARIO, A. M.; NISHI, M. Y.; MENDONCA, B. B.; JORGE, A. De Lima- Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders(2024) REZENDE, Raissa Carneiro; ANDRADE, Nathalia Liberatoscioli Menezes de; DANTAS, Naiara Castelo Branco; CELLIN, Laurana de Polli; KREPISCHI, Ana Cristina Victorino; LERARIO, Antonio Marcondes; JORGE, Alexander Augusto de LimaObjective To evaluate the presence of multiple genetic diagnoses in syndromic growth disorders. Study design We carried out a cross-sectional study to evaluate 115 patients with syndromic tall (n = 24) or short stature (n = 91) of unknown cause from a tertiary referral center for growth disorders. Exome sequencing was performed to assess germline single nucleotide, InDel, and copy number variants. All variants were classified according to ACMG/AMP guidelines. The main outcome measured was the frequency of multiple genetic diagnoses in a cohort of children with syndromic growth disorders. Results The total diagnostic yield of the cohort was 54.8% (63/115). Six patients had multiple genetic diagnoses (tall stature group = 2; short stature group = 4). The proportion of multiple diagnoses within total cases was 5.2% (6/ 115), and within solved cases was 9.5% (6/63). No characteristics were significantly more frequent when compared with patients with single or multiple genetic findings. Among patients with multiple diagnoses, 3 had syndromes with overlapping clinical features, and the others had syndromes with distinct phenotypes. Conclusion Recognition of multiple genetic diagnoses as a possibility in complex cases of syndromic growth disorders opens a new perspective on treatment and genetic counseling for affected patients, defying the medical common sense of trying to fit all findings into one diagnosis. (J Pediatr 2024;265:113841)
conferenceObject Characterization of puberty development in a large cohort of patients with Noonan syndrome with molecular diagnosis(2021) REZENDE, Raissa; JORGE, Alexander; NORONHA, Renata; KESELMAN, Ana; ANDRADE, Nathalia; DANTAS, Naiara; BERTOLA, Debora; MALAQUIAS, AlexsandraconferenceObject Girls with short statute and Xp22;Yq11 translocation: should a prophylactic gonadectomy be recommended ?(2023) DANTAS, Naiara C. B.; FUNARI, Mariana F. A.; ANDRADE, Nathalia L. M.; REZENDE, Raissa C.; CELLIN, Laurana P.; CRISOSTOMO, Lindiane G.; SCALCO, Renata C.; JORGE, Alexander A. L.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.