MARILIA MOREIRA MONTENEGRO
Projetos de Pesquisa
Unidades Organizacionais
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
5 resultados
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- Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p(2023) ALMEIDA, Vanessa T.; CHEHIMI, Samar N.; GASPARINI, Yanca; NASCIMENTO, Amom M.; CARVALHO, Gleyson F. S.; MONTENEGRO, Marilia M.; ZANARDO, Evelin Aline; DIAS, Alexandre T.; ASSUNCAO, Nilson A.; KIM, Chong A.; KULIKOWSKI, Leslie D.Introduction: Cri-du-chat syndrome is generally diagnosed when patients present a high-pitched cry at birth, microcephaly, ocular hypertelorism, and prominent nasal bridge. The karyotype is useful to confirm deletions in the short arm of chromosome 5 (5p-) greater than 10 Mb. In cases of smaller deletions, it is necessary to resort to other molecular techniques such as fluorescence in situ hybridization, multiplex ligation-dependent probe amplification (MLPA) or genomic array. Case Presentation: We report a family with an atypical deletion in 5p (mother and 2 children) and variable phenotypes compared with the literature. We applied a P064 MLPA kit to evaluate 5p- in the mother and the 2 children, and we used the Infinium CytoSNP-850K BeadChip genomic array to evaluate the siblings, an 11-year-old boy and a 13-year-old girl, to better define the 5p breakpoints. Both children presented a high-pitched cry at birth, but they did not present any of the typical physical features of 5p- syndrome. The MLPA technique with 5 probes for the 5p region revealed that the patients and their mother presented an atypical deletion with only 4 probes deleted (TERT_ex2, TERT_ex13, CLPTM1L, and IRX4). The genomic array performed in the siblings' samples revealed a 6.2-Mb terminal deletion in 5p15.33p15.32, which was likely inherited from their mother, who presented similar molecular features, seen in MLPA. Discussion: The sparing of the CTNND2 gene, which is associated with cerebral development, in both siblings may explain why these 2 patients had features such as better communication skills which most patients with larger 5p deletions usually do not present. In addition, both patients had smaller deletions than those found in patients with a typical 5p- phenotype. This report demonstrates the utility of genomic arrays as a diagnostic tool to better characterize atypical deletions in known syndromes such as 5p- syndrome, which will allow a better understanding of the genotype-phenotype correlations.
- Circulating sTREM-1 as a predictive biomarker of pediatric multisystemic inflammatory syndrome (MIS-C)(2023) GONCALVES, Guilherme S.; CORREA-SILVA, Simone; ZHENG, Yingying; AVELAR, Isabela; MONTENEGRO, Marilia M.; FERREIRA, Arthur E. F.; BAIN, Vera; FINK, Thais T.; SUGUITA, Priscila; ASTLEY, Camilla; LINDOSO, Livia; MARTINS, Fernanda; MATSUO, Olivia M.; FERREIRA, Juliana C. O. A.; FIRIGATO, Isabela; GONCALVES, Fernanda de Toledo; PEREIRA, Maria Fernanda B.; SILVA, Clovis Artur A. da; CARNEIRO-SAMPAIO, Magda; MARQUES, Heloisa H. S.; PALMEIRA, PatriciaThe exacerbation of the inflammatory response caused by SARS-CoV-2 in adults promotes the production of soluble mediators that could act as diagnostic and prognostic biomarkers for COVID-19. Among the potential biomarkers, the soluble triggering receptor expressed on myeloid cell-1 (sTREM-1) has been described as a predictor of inflammation severity. The aim was to evaluate sTREM-1 and cytokine serum concentrations in pediatric patients during the acute and convalescent phases of COVID-19. This was a prospective study that included 53 children/adolescents with acute COVID-19 (Acute-CoV group); 54 who recovered from COVID-19 (Post-CoV group) and 54 controls (Control group). Preexisting chronic conditions were present in the three groups, which were defined as follows: immunological diseases, neurological disorders, and renal and hepatic failures. The three groups were matched by age, sex, and similar preexisting chronic conditions. No differences in sTREM-1 levels were detected among the groups or when the groups were separately analyzed by preexisting chronic conditions. However, sTREM-1 analysis in the seven multisystemic inflammatory syndrome children (MIS-C) within the Acute-Cov group showed that sTREM-1 concentrations were higher in MIS-C vs non-MIS-C acute patients. Then, the receiver operating curve analysis (ROC) performed with MIS-C acute patients revealed a significant AUC of 0.870, and the sTREM-1 cutoff value of > 5781 pg/mL yielded a sensitivity of 71.4 % and a specificity of 91.3 % for disease severity, and patients with sTREM-1 levels above this cutoff presented an elevated risk for MIS-C development in 22.85-fold (OR = 22.85 [95 % CI 1.64-317.5], p = 0.02). The cytokine analyses in the acute phase revealed that IL-6, IL-8, and IL-10 concentrations were elevated regardless of whether the patient developed MIS-C, and those levels decreased in the convalescent phase, even when compared with controls. Spearman correlation analysis generated positive indexes between sTREM-1 and IL-12 and TNF-alpha concentrations, only within the Acute-CoV group. Our findings revealed that sTREM-1 in pediatric patients has good predictive accuracy as an early screening tool for surveillance of MIS-C cases, even in patients with chronic underlying conditions.
- Health-related quality of life and functionality in primary caregiver of surviving pediatric COVID-19(2023) MARTINS, Fernanda; GONCALVES, Fernanda T.; IMAMURA, Marta; BARBOZA, Daniela S.; MATHEUS, Denise; PEREIRA, Maria Fernanda B.; MARQUES, Heloisa H. S.; CORREA-SILVA, Simone; MONTENEGRO, Marilia M.; FINK, Thais T.; LINDOSO, Livia; BAIN, Vera; FERREIRA, Juliana C. O. A.; ASTLEY, Camilla; MATSUO, Olivia M.; SUGUITA, Priscila; TRINDADE, Vitor; PAULA, Camila S. Y.; LITVINOV, Nadia; PALMEIRA, Patricia; GUALANO, Bruno; DELGADO, Artur F.; CARNEIRO-SAMPAIO, Magda; FORSAIT, Silvana; ODONE-FILHO, Vicente; ANTONANGELO, Leila; BATTISTELLA, Linamara R.; SILVA, Clovis A.ObjectivesTo prospectively assess health-related quality of life (HRQoL), global functionality, and disability in primary caregivers of surviving children and adolescents after COVID-19. MethodsA longitudinal observational study was carried out on primary caregivers of surviving pediatric post-COVID-19 patients (n = 51) and subjects without COVID-19 (n = 60). EuroQol five-dimension five-level questionnaire (EQ-5D-5L) and 12-question WHO Disability Assessment Schedule 2.0 (WHODAS 2.0) were answered for both groups. The univariate regression analysis was carried out using SPSS (v 20) and significance was established at 5%. ResultsThe median duration between COVID-19 diagnosis in children and adolescents and longitudinal follow-up visits was 4.4 months (0.8-10.7). The median age of children and adolescents caregivers with laboratory-confirmed COVID-19 was similar to primary caregivers of subjects without laboratory-confirmed COVID-19 [43.2 (31.6-60.9) vs. 41.5 (21.6-54.8) years, p = 0.08], as well as similar female sex (p = 1.00), level of schooling (p = 0.11), social assistance program (p = 0.28), family income/month U$ (p = 0.25) and the number of household's members in the residence (p = 0.68). The frequency of slight to extreme problems (level & GE; 2) of the pain/discomfort domain according to EQ-5D-5L score was significantly higher in the former group [74% vs. 52.5%, p = 0.03, OR = 2.57 (1.14-5.96)]. The frequency of disability according to WHODAS 2.0 total score was similar to those without disability and unknown (p = 0.79); however, with a very high disability in both groups (72.5% and 78.3%). Further analysis of primary caregivers of children and adolescents with post-COVID-19 condition (PCC) [n = 12/51 (23%)] compared to those without PCC [n = 39/51(77%)] revealed no differences between demographic data, EQ-5D-5L and WHODAS 2.0 scores in both groups (p > 0.05). ConclusionWe longitudinally demonstrated that pain/discomfort were predominantly reported in approximately 75% of primary caregiver of COVID-19 patients, with high disability in approximately three-quarters of both caregiver groups. These data emphasized the prospective and systematic caregiver burden evaluation relevance of pediatric COVID-19.
- Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion(2023) MONTENEGRO, Marilia Moreira; CAMILOTTI, Debora; QUAIO, Caio Robledo D'Anglioli Costa; GASPARINI, Yanca; ZANARDO, Evelin Aline; RANGEL-SANTOS, Andreia; NOVO-FILHO, Gil Monteiro; FRANCISCO, Gleyson; LIRO, Lucas; NASCIMENTO, Amom; CHEHIMI, Samar Nasser; SOARES, Diogo Cordeiro Queiroz; KREPISCHI, Ana C. V.; GRASSI, Marcilia Sierro; HONJO, Rachel Sayuri; PALMEIRA, Patricia; KIM, Chong Ae; CARNEIRO-SAMPAIO, Magda Maria Sales; ROSENBERG, Carla; KULIKOWSKI, Leslie DomeniciObjective To report the effectiveness of early molecular diagnosis in the clinical management of rare diseases, presenting 8 patients with 8p23.1DS who have clinical features that overlap the phenotypic spectrum of 22q11.2DS. Study design This report is part of a previous study that aims to provide a precocious molecular diagnosis of the 22q11.2 deletion syndrome in 118 infants with congenital heart disease. To confirm the clinical diagnosis, patients underwent comparative genomic screening by the multiplex ligation-dependent probe amplification (MLPA) assay with the SALSA MLPA probemix kits P064-B2, P036-E1, P070-B2, P356-A1, and P250-B1. Subsequently, the patients performed the genomic microarray using the Infinium CytoSNP-850K BeadChip to confirm the deletion, determine the breakpoints of the deletion, and search for genomic copy number variations. Results MLPA performed with 3 different kits revealed the 8p23.1 typical deletion involving the PPP1R3B, MSRA, and GATA4 genes in the 5 patients. The array analysis was performed on these 5 patients and 3 other patients (8 patients) who also had clinical suspicion of 22q11 deletion (8 patients) allowed a precise definition of the breakpoints and excluded other genomic abnormalities. Conclusions Cytogenomic screening was efficient in establishing a differential diagnosis and ruling out the presence of other concomitant syndromes. The clinical picture of the 8p23.1 deletion syndrome is challenging; however, cytogenomic tools can provide an exact diagnosis and help to clarify the genotype-phenotype complexity of these patients. Our reports underline the importance of early diagnosis and clinical follow-up of microdeletion syndromes.
- Evaluation of pediatric diabetes mellitus after SARS-CoV-2 infection: A long-term prospective case series(2023) FINK, Thais T.; CANTON, Ana P. M.; PEREIRA, Maria Fernanda B.; BAIN, Vera; MATSUO, Olivia; ASTLEY, Camilla; MARQUES, Heloisa H. S.; CORREA-SILVA, Simone; MONTENEGRO, Marilia M.; PALMEIRA, Patricia; GARANITO, Marlene P.; DUARTE, Alberto J. S.; CARNEIRO-SAMPAIO, Magda; LATRONICO, Ana C.; SILVA, Clovis A.