MAGDA MARIA SALES CARNEIRO SAMPAIO
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Pediatria, Faculdade de Medicina - Docente
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina - Líder
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina - Líder
153 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 153
conferenceObject Novel Mutations in MVK Associated with Hyperimmunoglobulinemia D with Periodic Fever Syndrome Phenotype(2014) VASCONCELOS, D. Moraes; FUJIHIRA, E.; OLIVEIRA, J. B.; JESUS, A. A.; SILVA, C.; CASTRO, A. P. M.; DORNA, M. B.; WATANABE, L.; PONTILLO, A.; CHUFFI-BARROS, N.; JACOB, C. M. A.; CARNEIRO-SAMPAIO, M. M. S.; DUARTE, A. J.conferenceObject The Extended Clinical Phenotype of 36 Patients with Chronic Mucocutaneous Candidiasis Due to Gain-of-Function Mutations in STAT1(2014) FREDE, N.; DEPNER, M.; RAABE, J.; DOFFINGER, R.; GKRANIA-KLOTSAS, E.; KUMARARATNE, D.; ATKINSON, T. P.; SCHROEDER, H. W.; NIEHUES, T.; DUECKERS, G.; PUCK, J.; EISENSTEIN, E. M.; STRAY-PEDERSEN, A.; BAUMANN, U.; SCHMIDT, R. E.; FRANCO, J. L.; ORREGO, J. C.; BEN-SHOSHAN, M.; MCCUSKER, C.; JACOB, C. M.; CARNEIRO-SAMPAIO, M.; DEVLIN, L. A.; EDGAR, J. D.; HENDERSON, P.; DYRSO, T.; SENEVIRATNE, S. L.; WANDERS, J.; STAUSS, H.; MEYTS, I.; MOENS, L.; JESENAK, M.; GRIMBACHER, B.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- Age-related transcriptional modules and TF-miRNA-mRNA interactions in neonatal and infant human thymus(2020) BERTONHA, Fernanda Bernardi; BANDO, Silvia Yumi; FERREIRA, Leandro Rodrigues; CHACCUR, Paulo; VINHAS, Christiana; ZERBINI, Maria Claudia Nogueira; CARNEIRO-SAMPAIO, Magda Maria; MOREIRA-FILHO, Carlos AlbertoThe human thymus suffers a transient neonatal involution, recovers and then starts a process of decline between the 1st and 2nd years of life. Age-related morphological changes in thymus were extensively investigated, but the genomic mechanisms underlying this process remain largely unknown. Through Weighted Gene Co-expression Network Analysis (WGCNA) and TF-miRNA-mRNA integrative analysis we studied the transcriptome of neonate and infant thymic tissues grouped by age: 0-30 days (A); 31 days-6 months (B); 7-12 months (C); 13-18 months (D); 19-31 months (E). Age-related transcriptional modules, hubs and high gene significance (HGS) genes were identified, as well as TF-miRNA-hub/HGS co-expression correlations. Three transcriptional modules were correlated with A and/or E groups. Hubs were mostly related to cellular/metabolic processes; few were differentially expressed (DE) or related to T-cell development. Inversely, HGS genes in groups A and E were mostly DE. In A (neonate) one third of the hyper-expressed HGS genes were related to T-cell development, against one-twentieth in E, what may correlate with the early neonatal depletion and recovery of thymic T-cell populations. This genomic mechanism is tightly regulated by TF-miRNA-hub/HGS interactions that differentially govern cellular and molecular processes involved in the functioning of the neonate thymus and in the beginning of thymic decline.
- TLR-2 and TLR-4 mediated responses in monocytes from preterm and term newborns are distinct from those of adults(2012) SILVEIRA-LESSA, A. L.; QUINELLO, C.; CIANCIARULLO, M. A.; CECCON, M. E. J. R.; CARNEIRO-SAMPAIO, M.; PALMEIRA, P.
- Microbiological profile in chronic granutomatous disease patients in a single Brazilian primary immunodeficiencies center(2021) OLIVEIRA, Aimee Filippini Bifulco; PASTORINO, Antonio Carlos; DORNA, Mayra de Barros; CASTRO, Ana Paula Beltran Moschione; PEGLER, Jose Roberto Mendes; MORGENSTERN, Beni; CARNEIRO-SAMPAIO, Magda Maria SalesBackground: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Infections of the lungs, skin, lymph nodes, and liver are the hallmark of CGD with frequent initial manifestations of the disease. The aim of the present study was to describe the sites of infections and their causative agents in 38 CGD pediatric patients. Methods: This was a retrospective single-center cohort study comprising CGD patients, and followed for over last 40 years at the Allergy and Immunology Unit of a tertiary hospital in Sao Paulo, Brazil. Sites of infections and their causative agents were described. Results: A total of 38 patients were included (36 males and 2 females). Median age at the onset of symptoms was 45 days (7 days-7 years) and that at the time of diagnosis was 23 months (1 month-12 years); 31.6% of the parents reported death of relatives during childhood and 21% (8 cases) had another mate family member with CDG. The most common infections were pneumonia (81.6%), skin infections (50.0%), adenitis (42.1%), and liver abscess (23.7%). In all, 188 cultures were positive (85.6% for bacteria and 14.4% for fungi). The most prevalent bacterial agents were Staphylococcus sp. (12.4%), Staphylococcus aureus (11.2%), and Klebsiella pneumoniae (9.3%). Aspergillus sp. and Candida sp. were 56% and 22.2% of the isolated fungi, respectively. Mycobacterium tuberculosis was isolated in 5.6% and Mycobacterium bovis in 0.9% (only in 1 patient) of cultures. Conclusion: Staphylococcus sp., Staphylococcus aureus, and Aspergillus sp. were the most frequent agents in this cohort. M. tuberculosis should be considered in endemic areas. Detection of infectious agents drives to find adequate treatment and benefits the evolution of patients with CGD. (C) 2021 Codon Publications.
- 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 TRISOMY 21-DRIVEN GENE EXPRESSION DYSREGULATION IN HUMAN THYMUS: CONVERGING GENOMIC AND EPIGENOMIC MECHANISMS(2016) MOREIRA-FILHO, Carlos Alberto; BANDO, Silvia Yumi; BERTONHA, Fernanda Bernardi; SILVA, Filipi Nascimento; COSTA, Luciano da Fontoura; FEREIRA, Leandro Rodrigues; CARNEIRO-SAMPAIO, Magda- IPEX syndrome with Dent's disease manifestations - Case Report(2013) KOSTIC, Dusan; BRASIL, Saulo Couto; JACOB, Cristina Miuki Abe; SAMPAIO, Magda Carneiro; KOCH, Vera Hermina KalikaObjective: IPEX syndrome, a hereditary (X-linked) immune dysregulation with autoimmune polyendocrinopathy and enteropathy, as the basic manifestations, presents a rare and severe disease. The objective of this case report is to highlight the pleomorphism of the syndrome. Methods: The authors report the case of a male infant, with a family history of three male siblings affected by IPEX syndrome. The patients’ medical records were reviewed in order to describe the case of the youngest one. Results: During the follow-up of the youngest of three siblings, who presented eczema and intestinal manifestation, without compromised pancreatic and thyroid function, different from other two siblings, it was noticed the pattern of Dent’s disease. We registered hypophosphatemia, hypercalciuria, glycosuria, low molecular weight proteinuria and ultrasound revealed second stage bilateral nephrocalcinosis. In this child there was no apparent glomerular involvement, as it was seen in the eldest sibling. Conclusion: Dent’s disease is an X-linked renal proximal tubulopathy associated with mutations in the chloride channel gene CLCN5 (Xp11.22), which is next to FOXP3 gene on the X chromosome (Xp11.23-q13.3). It seems that in this sibling mutations occurred inexons of both of these genes. This case is to remind on pleomorphic potential of mutations that occur near the coding regions of the FOXP3 gene.
- A model for preservation of thymocyte-depleted thymus(2023) DIAS, A. S.; DAMACENO-RODRIGUES, N. R.; GIMENEZ, T. M.; OLIVEIRA, P. M.; ZERBINI, M. C.; CARNEIRO-SAMPAIO, M.; FILHO, V. Odone; JATENE, M. B.; VASCONCELOS, D. M.; ROCHA, V.; NOVAK, E. M.DiGeorge syndrome is a disorder caused by a microdeletion on the long arm of chromosome 22. Approximately 1% of patients diagnosed with DiGeorge syndrome may have an absence of a functional thymus, which characterizes the complete form of the syndrome. These patients require urgent treatment to reconstitute T cell immunity. Thymus transplantation is a promising investigational procedure for reconstitution of thymic function in infants with congenital athymia. Here, we demonstrate a possible optimization of the preparation of thymus slices for transplantation through prior depletion of thymocytes and leukocyte cell lineages followed by cryopreservation with cryoprotective media (5% dextran FP 40, 5% Me2SO, and 5% FBS) while preserving tissue architecture. Thymus fragments were stored in liquid nitrogen at -196 & DEG;C for 30 days or one year. The tissue architecture of the fragments was preserved, including the distinction between medullary thymic epithelial cells (TECs), cortical TECs, and Hassall bodies. Moreover, depleted thymus fragments cryopreserved for one year were recolonized by intrathymic injections of 3 x 106 thymocytes per mL, demonstrating the capability of these fragments to support T cell development. Thus, this technique opens up the possibility of freezing and storing large volumes of thymus tissue for immediate transplantation into patients with DiGeorge syndrome or atypical (Omenn-like) phenotype.