SILVIA YUMI BANDO TAKAHARA
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Pediatria, Faculdade de Medicina
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
3 resultados
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- Methods for Gene Co-expression Network Visualization and Analysis(2022) MOREIRA-FILHO, C. A.; BANDO, S. Y.; BERTONHA, F. B.; SILVA, F. N.; COSTA, L. D. F.Gene network analysis is an important tool for studying the changes in steady states that characterize cell functional properties, the genome-environment interplay, and the health-disease transitions. Moreover, gene co-expression and protein–protein interaction (PPI) data can be integrated with clinical, histopathological, and imaging information – a current practice in systems biology – leading, for instance, to the identification of unique and common drivers for disease conditions. In this chapter the fundamentals for gene co-expression network construction, visualization, and analysis are revised, emphasizing its scale-free nature, the measures that express its most relevant topological features, and methods for network validation. © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2014, 2022.
- Transcriptomics of Neonatal and Infant Human Thymus(2022) MOREIRA-FILHO, C. A.; BANDO, S. Y.; BERTONHA, F. B.; CARNEIRO-SAMPAIO, M.Genomic studies on human thymic development, growth, and involution are crucially demanded for understanding the processes of immunosenescence and inflammaging. Age-related thymus decline is mainly associated with adaptative immune system malfunction, leading to autoimmunity and ineffective responses to infections. Thymic explants obtained at cardiac surgery constitute an asset for transcriptomic studies of human thymus at critical stages of organ growth and initial decline. This chapter deals with the interpretation of whole thymic tissue transcriptomic datasets using modular transcriptional analysis techniques and integrative mRNA–miRNA–transcription factor (TF) co-expression analysis. © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2014, 2022.
- Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations(2022) CARNEIRO-SAMPAIO, Magda; JESUS, Adriana Almeida de; BANDO, Silvia Yumi; MOREIRA-FILHO, Carlos AlbertoIn this article we revised the literature on Inborn Errors of Immunity (IEI) keeping our focus on those diseases presenting with intrauterine or perinatal clinical manifestations. We opted to describe our findings according to the IEI categories established by the International Union of Immunological Societies, predominantly addressing the immunological features of each condition or group of diseases. The main finding is that such precocious manifestations are largely concentrated in the group of primary immune regulatory disorders (PIRDs) and not in the group of classical immunodeficiencies. The IEI categories with higher number of immunological manifestations in utero or in perinatal period are: (i) diseases of immune dysregulation (HLH, IPEX and other Tregopathies, autosomal recessive ALPS with complete lack of FAS protein expression) and (ii) autoinflammatory diseases (NOMID/CINCA, DIRA and some interferonopathies, such as Aicardi-Goutieres syndrome, AGS, and USP18 deficiency). Regarding the other IEI categories, some patients with Omenn syndrome (an atypical form of SCID), and a few X-linked CGD patients present with clinical manifestations at birth associated to immune dysregulation. The most frequent clinical features were hydrops fetalis, intrauterine growth retardation leading to fetal loss, stillbirths, and prematurity, as in HLH and IPEX. Additionally, pseudo-TORCH syndrome was observed in AGS and in USP18 deficiency. The main goal of our review was to contribute to increasing the medical awareness of IEI with intrauterine and perinatal onset, which has obvious implications for diagnosis, treatment, and genetic counseling.