MARCILIA SIERRO GRASSI
Projetos de Pesquisa
Unidades Organizacionais
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
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conferenceObject TCR V beta Repertoire Diversity in Healthy Individuals of Different Age Groups(2013) ARANTES, J. M.; SANTOS, Nathalia Moreira; GRASSI, Marcilia Sierro; TANNURI, Ana Cristina Aoun; GUILHERME, Luisa; CARNEIRO-SAMPAIO, Magda- Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center(2022) GRASSI, Marcilia Sierro; MONTENEGRO, Marilia; ZANARDO, Evelin Aline; PASTORINO, Antonio Carlos; DORNA, Mayra Barros; KIM, Chong; JATENE, Marcelo; MIURA, Nana; KULIKOWSKI, Leslie; CARNEIRO-SAMPAIO, MagdaBackground: Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and to start the treatment, allowing the inclusion of patients in society and reducing the financial cost of such diseases. Objective: The initial proposal of this study was cytogenetic screening for the detection of the 22q11.2 deletion syndrome in consecutive newborns and infants with congenital heart disease using the multiplex ligation-dependent probe amplification (MLPA) technique. Therefore, throughout our research, other genomic alterations were identified in these cardiac patients. Thus, our objective was extended to investigate these other cytogenetic alterations. Methods: We investigated 118 neonates with congenital heart diseases born consecutively during one year using the MLPA technique. Results: The MLPA technique allowed the detection of 22q11.2DS in 10/118 patients (8.5%). Other genomic alterations were also identified in 6/118 patients (5%): 1p36 del, 8p23 del (2 cases), 7q dup, 12 dup and 8q24 dup. Conclusion: This study highlights the relevance of detecting genomic alterations that are present in newborns and infants with congenital cardiac diseases using cytogenomic tools.
conferenceObject Detection of 22q11.2 Deletion in Infants with Congenital Heart Disease (Preliminary Data)(2013) CARNEIRO-SAMPAIO, M.; GRASSI, M. Sierro; KULIKOWSKI, L. Domenici; JACOB, C. Miuki Abe; DUTRA, R. Lelis; MIURA, N.; CECCON, M. E. Jurfest Rivero; KREBS, V. L. Jornada; CARVALHO, W. Brunow; JATENE, M.conferenceObject Complete Transcriptional Network Driven-View of Thymic Hypofunction in Down Syndrome(2014) MOREIRA-FILHO, Carlos Alberto; BANDO, Silvia Yumi; BERTONHA, Fernanda Bernardi; FEREIRA, Leandro Rodrigues; SILVA, Filipi Nascimento; COSTA, Luciano da Fontoura; GRASSI, Marcilia Sierro; CARNEIRO-SAMPAIO, Magda- Cardiopatias Congênitas como um Sinal de Alerta para o Diagnóstico da Deleção do 22q11.2(2014) GRASSI, Marcilia S.; JACOB, Cristina M. A.; KULIKOWSKI, Leslie D.; PASTORINO, Antonio C.; DUTRA, Roberta L.; MIURA, Nana; JATENE, Marcelo B.; PEGLER, Stephanie P.; KIM, Chong A.; CARNEIRO-SAMPAIO, MagdaBackground: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M: F = 1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results: CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Conclusion: Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.
conferenceObject RESTRICTED AND SKEWED TCR VB REPERTOIRE IN CHROMOSOME 22Q11.2 DELETION(2012) ARANTES, J. M.; GRASSI, M. S.; SANTOS, N. M.; GUILHERME, L.; KULIKOWSKI, L. D.; DUTRA, R. L.; WATANABE, L. A.; JACOB, C. M. A.; ZAGO, C. A.; CARNEIRO-SAMPAIO, M.Introduction: Chromosome 22q11 deletion is the most common human deletion and is found in the majority of patients with DiGeorge and velo-cardio-facial syndromes. Many patients have a mild to moderate immunodeficiency, and most have cardiac anomaly. Objective: To evaluate TCR repertoire diversity in infants with 22q11.2 deletion identified at FMUSP ward for congenital heart diseases. Methods: TCR Vβ variable chain repertoire was analyzed by the TCRBV CDR3 lenght spectratyping technique, and repertoire diversity was quantified utilizing the complexity score (CS), that represents the sum of the number of peaks for each one of the 24 BV families. 22q11.2 deletion was detected utilizing multiplex ligation-dependent probe amplification. First case report: A 9-month-old boy was identified in a survey among infants with complex congenital heart anomalies. He was born from non-consanguineous parents, weighing 2845g and presenting microcephaly, micrognathia, ocular hypertelorism and low set left ear, renal involvement, left atrial isomerism and pulmonary atresia. He also had hypocalcemia and hypoplasticthymus. He has lymphopenia=3,800 cells/mm3 (CD3=1,454 cells/mm3, CD4=888cells/mm3, CD8=537cells/mm3), thrombocytopenia=55,000, IgG+=1,285mg/dL, IgM=123mg/dL, IgA=132mg/dL. Results: The patient presented CS=49, in contrast with 2 healthy age-matched male infants with 127 and 135. Four young healthy adults presented CS between 165 and 178. The patient presented mostly olygoclonal distribution and even absence of TCRBV families, while healthy donors exhibited mainly polyclonal non-Gaussian distributions. Conclusions: The evaluation of new cases as well as the follow-up the patients will demonstrate if the repertoire diversity correlates with clinical severity.conferenceObject Is prematurity associated with neonatal mortality in severe isolated congenital diaphragmatic hernia after fetal tracheal occlusion?(2013) RUANO, Rodrigo; SILVA, Marcos; GRASSI, Marcilia; CECCON, Maria; TANNURI, Uenis; ZUGAIB, MarceloOBJECTIVE: Fetoscopic tracheal occlusion (FETO) has been indicated for severe isolated CDH. However, this fetal intervention is related with prematurity (mean gestational age at delivery 35 weeks). In this study, we sought to evaluate if prematurity was associated with mortality after FETO. STUDY DESIGN: This is a prospective cohort study of 35 fetuses with severe isolatedCDHthat underwent FETO between 26-30 weeks. Preterm birth (<37 weeks) and extreme preterm birth (<32 weeks) were analyzed according to neonatal mortality using Fisher exact test. Other variables were also evaluated such as the lung-to-head ratio (LHR) prior to FETO, gestational age at FETO, duration of tracheal occlusion and duration of the procedure using t-test and Man-Whitney U test. RESULTS: Survival rate after FETO was 54.3%. Mean gestational age at delivery was 35.9±2.4 weeks in survivors and 34.9±2.8 weeks in those that died (p=0.28). Preterm birth and extreme preterm birth were not associated with mortality (p= 0.51 and p=0.34, respectively). The only variable associated with mortality was the LHR prior to FETO (0.73±0.02 vs. 0.84±0.09; p<0.01). CONCLUSION: In the present cohort of fetuses with severe CDH that underwent FETO, preterm birth and extreme preterm birth were not associated with mortality. The LHR prior to FETO can be used to predict outcome after tracheal occlusion performed between 26-30 weeks.conferenceObject Restricted T-Cell Repertoire in Four Immunedysregulation Polyendocrinopathy X-Linked (IPEX) Infants(2014) ARANTES, Jerusa; MOREIRA, Nathalia; WATANABE, Leticia; GRASSI, Marcilia Sierro; JACOB, Cristina Miuki Abe; GUILHERME, Luisa; CARNEIRO-SAMPAIO, Magda M. SalesconferenceObject Safety Of Yellow Fever Vaccine And Other Live Attenuated Vaccines In Pediatric Patients With DiGeorge Syndrome(2020) SOUZA, Mayara Lorena de; DORNA, Mayra de Barros; HENRIQUES, Gabriela Araujo Toscano; VIEIRA, Pedro Henrique Meireles; GRASSI, Marcilia Sierro; CASTRO, Ana Paula Beltran Moschione; PASTORINO, Antonio Carlos; CARNEIRO-SAMPAIO, MagdaconferenceObject 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.