Navegando por Autor "PINTO, Pablo Diego do Carmo"

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Acesso aberto (Open Access)
Biologia molecular aplicada à hanseníase: estudo de parâmetros genéticos e epigenéticos em uma amostra do estado do Pará
(Universidade Federal do Pará, 2016-09-02) PINTO, Pablo Diego do Carmo; SANTOS, Ândrea Kely Campos Ribeiro dos; http://lattes.cnpq.br/3899534338451625
Leprosy is caused by Mycobacterium leprae and patients can be grouped in Paucibacillary and Multibacillary. Alternatively, according by Ridley-Jopling (1966), using immune-hystogical criteria, grouped in two distinct pole: (i) Tuberculóide (TT); and (ii) lepromatous (LL), and your intermediaries. Independently these classification, the disease can be affected by molecules that modulates immune response, like genes that encode these molecules, and by small RNA (micro-RNA), wich regulated these genes, thus these study can improve the knowledge about the mechanism of response to infectious process, as well as enable the identification of new possibles biomarkers to assist diagnosis in leprosy. The objective of this study was to investigate eight INDEL polymorphisms on genes CYP19A1, NFKβ1, IL1α, CASP8, UGT1A1, PAR1, CYP2E1, and IL4, to identify possible susceptibility markers of leprosy and evaluate the influence of genetic ancestry on disease risk. Besides was performed the first genome wide miRNA profiling of Leprosy by next generation sequencing (NGS), assessing and describing the expression standard in leprosy. Our study shows that the NFKβ1, CASP8, PAR1, IL4 and CYP19A1 genes are possible markers for the susceptibility to development of leprosy and the severe clinical form MB. Moreover, after correcting for population structure within an admixture population, the results show that different levels of ethnic group composition can generate different OR rates for leprosy susceptibility. The differential expression profile from tissue samples reveal 67 miRNAs differentially expression, with 43 down and 24 upregulated and from blood sample were found a total of 10 miRNAs differentially expression with 9 down and one upregulated. Moreover was performed in silico target analysis and detect the genes (IL1β, IL6, IL8, IL12, TLR2, TLR4, IL17RB, IFNGR1, TGFBR1, NFκβ, família SMAD, STAT3, CASP8, CYP19A1, BCL-2, in others) involved on pathological of leprosy. Lastly, was showed for the first time the genome wide microRNA of leprosy.
Acesso aberto (Open Access)
CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS)
(Universidade Federal do Pará, 2016-06) EL HUSNY, Antonette Souto; MORAES, Milene Raiol de; AMADOR, Marcos Antônio Trindade; SANTOS, André Maurício Ribeiro dos; MONTAGNINI, Andre Luis; BARBOSA, Maria Silvanira Ribeiro; SILVA, Artur Luiz da Costa da; ASSUMPÇÃO, Paulo Pimentel de; ISHAK, Geraldo; SANTOS, Sidney Emanuel Batista dos; PINTO, Pablo Diego do Carmo; CRUZ, Aline Maria Pereira; SANTOS, Ândrea Kely Campos Ribeiro dos
Gastric cancer is considered to be the fifth highest incident tumor worldwide and the third leading cause of cancer deaths. Developing regions report a higher number of sporadic cases, but there are only a few local studies related to hereditary cases of gastric cancer in Brazil to confirm this fact. CDH1 germline mutations have been described both in familial and sporadic cases, but there is only one recent molecular description of individuals from Brazil. In this study we performed Next Generation Sequencing (NGS) to assess CDH1 germline mutations in individuals who match the clinical criteria for Hereditary Diffuse Gastric Cancer (HDGC), or who exhibit very early diagnosis of gastric cancer. Among five probands we detected CDH1 germline mutations in two cases (40%). The mutation c.1023T > G was found in a HDGC family and the mutation c.1849G > A, which is nearly exclusive to African populations, was found in an early-onset case of gastric adenocarcinoma. The mutations described highlight the existence of gastric cancer cases caused by CDH1 germline mutations in northern Brazil, although such information is frequently ignored due to the existence of a large number of environmental factors locally. Our report represent the first CDH1 mutations in HDGC described from Brazil by an NGS platform.