Haplotype 46/1 (GGCC) consists of a set of genetic variations distributed along chromosome 9p.24.... more Haplotype 46/1 (GGCC) consists of a set of genetic variations distributed along chromosome 9p.24.1, which extend from the Janus Kinase 2 gene to Insulin like 4. Marked by four jointly inherited variants (rs3780367, rs10974944, rs12343867, and rs1159782), this haplotype has a strong association with the development of BCR-ABL1-negative myeloproliferative neoplasms (MPNs) because it precedes the acquisition of the JAK2V617F variant, a common genetic alteration in individuals with these hematological malignancies. It is also described as one of the factors that increases the risk of familial MPNs by more than five times, 46/1 is associated with events related to inflammatory dysregulation, splenomegaly, splanchnic vein thrombosis, Budd–Chiari syndrome, increases in RBC count, platelets, leukocytes, hematocrit, and hemoglobin, which are characteristic of MPNs, as well as other findings that are still being elucidated and which are of great interest for the etiopathological understanding...
Os benzodiazepínicos são medicamentos que atuam como depressores do Sistema Nervoso Central, poss... more Os benzodiazepínicos são medicamentos que atuam como depressores do Sistema Nervoso Central, possuem ação anticonvulsivante, relaxante muscular, sedativa e hipnótica. Há anos estes fármacos são receitados de forma massiva, mas sem os cuidados posológicos indicados, o que leva ao uso indiscriminado do mesmo, resultando em exposição a riscos toxicológicos. Dessa maneira, o presente artigo discute, por meio de uma revisão bibliográfica integrativa, o uso indiscriminado de benzodiazepínicos e a contribuição do farmacêutico para um uso racional. O estudo foi do tipo descritivo-observacional, possuindo como metodologia a revisão de literatura integrativa. Foram selecionadas como base de dados a Biblioteca Virtual de Saúde, Biblioteca Eletrônica Científica Online e Google Acadêmico. 18 artigos foram relevantes para a pesquisa, onde percebeu-se que a administração destes medicamentos é feita majoritariamente por idosos e mulheres, relativo a questões sociais e que grande parte dos casos de ...
The JAK2V617F variant constitutes a genetic alteration of higher frequency in BCR/ABL1 negative c... more The JAK2V617F variant constitutes a genetic alteration of higher frequency in BCR/ABL1 negative chronic myeloproliferative neoplasms, which is caused by a substitution of a G ˃ T at position 1849 and results in the substitution of valine with phenylalanine at codon 617 of the polypeptide chain. Clinical, morphological and molecular genetic features define the diagnosis criteria of polycythemia vera, essential thrombocythemia and primary myelofibrosis. Currently, JAK2V617F is associated with clonal hematopoiesis, genomic instability, dysregulations in hemostasis and immune response. JAK2V617F clones induce an inflammatory immune response and lead to a process of immunothrombosis. Recent research has shown great interest in trying to understand the mechanisms associated with JAK2V617F signaling and activation of cellular and molecular responses that progressively contribute to the development of inflammatory and vascular conditions in association with chronic myeloproliferative neopla...
Haplotype 46/1 (GGCC) consists of a set of genetic variations distributed along chromosome 9p.24.... more Haplotype 46/1 (GGCC) consists of a set of genetic variations distributed along chromosome 9p.24.1, which extend from the Janus Kinase 2 gene to Insulin like 4. Marked by four jointly inherited variants (rs3780367, rs10974944, rs12343867, and rs1159782), this haplotype has a strong association with the development of BCR-ABL1-negative myeloproliferative neoplasms (MPNs) because it precedes the acquisition of the JAK2V617F variant, a common genetic alteration in individuals with these hematological malignancies. It is also described as one of the factors that increases the risk of familial MPNs by more than five times, 46/1 is associated with events related to inflammatory dysregulation, splenomegaly, splanchnic vein thrombosis, Budd–Chiari syndrome, increases in RBC count, platelets, leukocytes, hematocrit, and hemoglobin, which are characteristic of MPNs, as well as other findings that are still being elucidated and which are of great interest for the etiopathological understanding...
Os benzodiazepínicos são medicamentos que atuam como depressores do Sistema Nervoso Central, poss... more Os benzodiazepínicos são medicamentos que atuam como depressores do Sistema Nervoso Central, possuem ação anticonvulsivante, relaxante muscular, sedativa e hipnótica. Há anos estes fármacos são receitados de forma massiva, mas sem os cuidados posológicos indicados, o que leva ao uso indiscriminado do mesmo, resultando em exposição a riscos toxicológicos. Dessa maneira, o presente artigo discute, por meio de uma revisão bibliográfica integrativa, o uso indiscriminado de benzodiazepínicos e a contribuição do farmacêutico para um uso racional. O estudo foi do tipo descritivo-observacional, possuindo como metodologia a revisão de literatura integrativa. Foram selecionadas como base de dados a Biblioteca Virtual de Saúde, Biblioteca Eletrônica Científica Online e Google Acadêmico. 18 artigos foram relevantes para a pesquisa, onde percebeu-se que a administração destes medicamentos é feita majoritariamente por idosos e mulheres, relativo a questões sociais e que grande parte dos casos de ...
The JAK2V617F variant constitutes a genetic alteration of higher frequency in BCR/ABL1 negative c... more The JAK2V617F variant constitutes a genetic alteration of higher frequency in BCR/ABL1 negative chronic myeloproliferative neoplasms, which is caused by a substitution of a G ˃ T at position 1849 and results in the substitution of valine with phenylalanine at codon 617 of the polypeptide chain. Clinical, morphological and molecular genetic features define the diagnosis criteria of polycythemia vera, essential thrombocythemia and primary myelofibrosis. Currently, JAK2V617F is associated with clonal hematopoiesis, genomic instability, dysregulations in hemostasis and immune response. JAK2V617F clones induce an inflammatory immune response and lead to a process of immunothrombosis. Recent research has shown great interest in trying to understand the mechanisms associated with JAK2V617F signaling and activation of cellular and molecular responses that progressively contribute to the development of inflammatory and vascular conditions in association with chronic myeloproliferative neopla...
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