ELIANA GARZON
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
2 resultados
Resultados de Busca
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- Modeling of post-traumatic epilepsy and experimental research aimed at its prevention(2021) MOSINI, A. C.; CALIO, M. L.; FORESTI, M. L.; VALERIANO, R. P. S.; GARZON, E.; MELLO, L. E.Research on the prevention of post-traumatic epilepsy (PTE) has seen remarkable advances regarding its physiopathology in recent years. From the search for biomarkers that might be used to indicate individual susceptibility to the development of new animal models and the investigation of new drugs, a great deal of knowledge has been amassed. Various groups have concentrated efforts in generating new animal models of traumatic brain injury (TBI) in an attempt to provide the means to further produce knowledge on the subject. Here we forward the hypothesis that restricting the search of biomarkers and of new drugs to prevent PTE by using only a limited set of TBI models might hamper the understanding of this relevant and yet not preventable medical condition.
- MECP2-related conditions in males: A systematic literature review and 8 additional cases(2021) INUZUKA, Luciana Midori; GUERRA-PEIXE, Matheus; MACEDO-SOUZA, Lucia Ines; PEDREIRA, Christiane Cobas; GURGEL-GIANNETTI, Juliana; MONTEIRO, Fabiola Paoli; RAMOS, Luiza; COSTA, Larissa Athayde; CRIPPA, Ana Chrystina de Souza; LOURENCO, Charles Marques; PACHITO, Daniela Viana; SUKYS-CLAUDINO, Lucia; GASPAR, Leonardo Salvador; ANTONIUK, Sergio Antonio; DUTRA, Luis Paulo de Souza; DINIZ, Sabrina Stephanie Lana; PIRES, Rafaelle Batistella; GARZON, Eliana; KOK, FernandoObjective: To present a cohort of 8 males and perform a systematic review of all published cases with a single copy of MECP2 carrying a pathogenic variant. Methods: We reviewed medical records of males with a single copy of MECP2 carrying a pathogenic variant. We searched in Medline (Pubmed) and Embase to collect all articles which included well characterized males with a single copy of MECP2 carrying a pathogenic or likely pathogenic variant in MECP2 (1999-2020). Results: The literature search yielded a total of 3,185 publications, of which 58 were included in our systematic review. We were able to collect information on 27 published patients with severe neonatal encephalopathy, 47 individuals with isolated or familial mental retardation X-linked 13 (XLMR13), as well as 24 individuals with isolated or familial Pyramidal signs, parkinsonism, and macroorchidism (PPM-X). In our cohort, we met eight individuals aged 4 to 19-year-old at the last evaluation. Three MECP2- associated phenotypes were seen in male carriers of a single copy of the gene: severe neonatal encephalopathy (n = 5); X-linked intellectual deficiency 13 (n = 2); and pyramidal signs, parkinsonism, and macroorchidism (PPM-X) (n = 1). Two novel de novo variants [p.(Gly252Argfs*7) and p.(Tyr132Cys)] were detected. Conclusion: In males, the MECP2 pathogenic variants can be associated with different phenotypes, including neonatal severe encephalopathy, intellectual deficiency, or late-onset parkinsonism and spasticity. The typical RS phenotype is not expected in males, except in those with Klinefelter syndrome or somatic mosaicism for MECP2.