Howard Lopes Ribeiro Junior

Polymorphisms of DNA repair genes are related to the pathogenesis of myelodysplastic syndrome

Some studies show that alterations in DNA repair genes polymorphisms are associated with the pathogenesis and susceptibility of Myelodysplastic Syndrome (MDS). We genotyped 60 MDS patients for six DNA repair gene polymorphisms: BRCA1 rs4793191, BRCA2 rs9567623, RAD51 rs1801320, XRCC5 rs3835, XRCC6 rs2267437 and LIG4 rs1805388. The G/C heterozygote genotype of rs1801320 polymorphism was associated with a decreased chance of developing MDS (p = 0.05). Additionally, the G/G homozygous genotype was associated with the presence of one cytopenia in whole blood. The genotype C/G and CG + GG of the rs2267437 polymorphism was associated with normal karyotype (p = 0.010) and bone marrow cellularity normocellular + hypercellular (p = 0.023). We found that the A/G heterozygous genotype of the rs3835 polymorphism is associated with decreased chance of developing MDS (p < 0.001). These results support the importance of RAD51, XRCC5 and XRCC6 genes polymorphisms in the maintenance of genomic stability promoting a better understanding of the genesis and etiology of MDS. Copyright

Proteins related to the spindle and checkpoint mitotic emphasize the different pathogenesis of hypoplastic MDS

Some studies show that alterations in expression of proteins related to mitotic spindle (AURORAS KINASE A and B) and mitotic checkpoint (CDC20 and MAD2L1) are involved in chromosomal instability and tumor progression in various solid and hematologic malignancies. This study aimed to evaluate these genes in MDS patients. The cytogenetics analysis was carried out by G-banding, AURKA and AURKB amplification was performed using FISH, and AURKA, AURKB, CDC20 and MAD2L1 gene expression was performed by qRT-PCR in 61 samples of bone marrow from MDS patients. AURKA gene amplification was observed in 10% of the cases, which also showed higher expression levels than the control group (p=0.038). Patients with normo/hypercellular BM presented significantly higher expression levels than hypocellular BM patients, but normo and hypercellular BM groups did not differ. After logistic regression analysis, our results showed that HIGH expression levels were associated with increased risk of developing normo/hypercellular MDS. It also indicated that age is associated with AURKA, CDC20 and MAD2L1 HIGH expression levels. The distinct expression of hypocellular patients emphasizes the prognostic importance of cellularity to MDS. The amplification/high expression of AURKA suggests that the increased expression of this gene may be related to the pathogenesis of disease.

Prognostic importance of Aurora Kinases and mitotic spindle genes transcript levels in Myelodysplastic syndrome

Myelodysplastic syndrome (MDS) are a heterogeneous group of clonal disease characterized by insufficiency of bone marrow, increase of apoptosis and increased risk of acute leukemia progression. Proteins related to the mitotic spindle (AURKA, AURKB, TPX2), to the mitotic checkpoint (MAD2, CDC20) and the regulation of the cell cycle (p21) are directly related to chromosomal stability and tumor development. This study aimed to evaluate the mRNA expression levels of these genes in 101 MDS patients using a real-time PCR methodology. We identified that CDC20 expression are increased in patients with dysmegakaryopoiesis (p=0.024), thrombocytopenia (p=0.000) and high-risk patients (p=0.014, 0.018) MAD2 expression are decreased in patients with 2 or 3 cytopenias (p=0.000) and neutrophil below 800/mm3. TPX2 is also overexpressed in patients presenting dysmegakaryopoiesis (p=0.009). A decrease in AURKA and AURKB expression were observed in patients with altered karyotype (p=0.000), who presented dysplasia in 3 lineages (p=0.000; 0.017) and hemoglobin inferior to 8g/dL (p=0.024). The expression of AURKA, AURKB and MAD2 (p=0.000; 0.001; 0.025) were decreased in patients with hypoplastic MDS, associated with high frequency of chromosomal alterations and high mortality rate. This study reaffirms the importance of aurora kinases and mitotic spindle genes to the pathogenesis and clinical evolution of MDS.

New polymorphisms of Xeroderma Pigmentosum DNA repair genes in myelodysplastic syndrome

The association between Xeroderma Pigmentosum DNA repair genes (XPA rs1800975, XPC rs2228000, XPD rs1799793 and XPF rs1800067) polymorphisms and myelodysplastic syndrome (MDS) have not been reported. To assess the functional role between these polymorphisms and MDS, we evaluated 189 samples stratified in two groups: 95 bone marrow samples from MDS patients and 94 from healthy elderly volunteers used as controls. Genotypes for all polymorphisms were identified in DNA samples in an allelic discrimination experiment by real-time polymerase chain reaction (qPCR). We also studied the mRNA expression of XPA and XPC genes to evaluate if its polymorphisms were functional in 53 RNAm MDS patients by qPCR methodologies. To the rs2228000 polymorphism, the CT and TT polymorphic genotype were associated with increased odds ratio (OR) of more profound cytopenia (hemoglobin and neutrophils count). To the rs1799793 polymorphism, we found that the GG homozygous wild-type genotype was associated with a decreased chance of developing MDS. We observed low expression of XPA in younger patients, in hypoplastic MDS and patients with abnormal karyotype when presented AG or AA polymorphic genotypes. We also found that there was a statistically significant interaction between the presence of micromegakaryocyte on down regulation of XPC regarding the CT heterozygous genotype of the rs1800975 polymorphism. Our results suggest that new functional polymorphisms of Xeroderma Pigmentosum DNA repair genes in MDS are related to its pathogenesis and prognosis.

Abordagem Prática de Bioinformática em Evento Acadêmico-Científico na Cidade de Fortaleza-Ce

O objetivo deste estudo foi aplicar e avaliar conteudos teoricos-praticos de Bioinformatica para estudantes participantes do Curso Introducao a Bioinformatica: Da Teoria a Pratica, inserido na programacao da IX Semana da Biologia na Universidade Estadual do Ceara, no ano de 2010. A abordagem teorica consistiu de uma apresentacao de conceitos historicos, basicos e especificos dos atuais avancos das pesquisas envolvidas as areas da biologia Molecular. A pratica de “Construcao de uma Filogenia Molecular in Silico ” foi elaborada para tornar funcional os conceitos apresentados na pratica anterior, com a utilizacao do banco de dados do National Center for Biotechnology Information , NCBI, e sua ferramenta de alinhamento de sequencias, o BLASTp ( Basic Local Alignment Search Tool Protein-Protein.) Os resultados positivos obtidos com a aplicacao da aula teorica de Introducao a Bioinformatica e das atividades praticas foram destacados com as caracterizacoes das filogenias moleculares das sequencias hipoteticas propostas para a execucao dos alinhamentos e pelas falas dos alunos anteriormente citados. Estas atividades foram vistas como essenciais para que os alunos pudessem vivenciar o passo a passo para uma melhor compreensao da emergente area das ciencias da vida: a Bioinformatica.

The Irritating Effects Of Exposure To Formaldehyde In User Students Of The Human Anatomy Laboratory

Formaldehyde (FA) is commonly used in cadaver fixation for years. FA vapors are released during the dissection process and macroscopic study of preserved anatomical pieces, raising their concentration in the Anatomy laboratory, causing greater exposure for students and teachers. Therefore, the objective of this study was to investigate toxic reactions in 37 students, through a questionnaire, produced by exposure to FA used for preservation of cadaveric material used in Anatomy, Morphofunctional Department, Faculdades Integradas de Patos (FIP), Brazil. Of the 37 interviewees, 26 (70.3%) were affected by the unpleasant and irritating smell of FA, 10 (27%) had no problems, and 1 (2.7%) did not tolerate an irritation produced by FA, ​​not participating in the laboratory practical classes. Exposure to FA was followed by several symptoms: excessive lacrimation (54%), itchy eyes (48.5%), redness of the eyes (40.6%), coryza or congested nose (35.2%) and respiratory distress (29.7%), with persistent symptoms during the permanence in the laboratory for 32.5% of the students. All students wear a lab coat for individual protection. However, only 8% used mascara and did not wear glasses, increasing the risk of contamination. Medical schools should encourage the use of Personal Protective Equipment (PPE) for the manipulation of FA, ensuring the protection of students and teachers in the Anatomy laboratory. Besides finding alternatives for the replacement of FA in the conservation of corpses.

PERFIL DE PACIENTES COM TRANSTORNOS MENTAIS ATENDIDOS NO CENTRO DE ATENÇÃO PSICOSSOCIAL DO MUNICÍPIO DE CANDEIAS - BAHIA

Objetivo: Descrever o conjunto de caracteristicas clinicas e sociodemograficas dos usuarios do Centro de Atencao Psicossocial (CAPS II) do municipio de Candeias, na Bahia. Material e Metodos: A populacao do estudo constituiu-se de 71 usuarios de ambos os sexos, cadastrados no servico, no periodo de janeiro de 2013 a dezembro de 2014. Utilizou-se formulario proprio para a coleta de dados secundarios contidos nos prontuarios analisados. As variaveis pesquisadas formam o perfil dos pacientes com transtornos mentais do municipio, tendo como caracteristicas sociodemograficas investigadas: idade, sexo, etnia, escolaridade, religiao, naturalidade e aspectos clinicos a partir dos diagnosticos apresentados de acordo com a Classificacao Internacional de Doencas (CID-10), o uso de medicacoes e as terapias frequentadas pelos usuarios. Resultados: Na presente pesquisa, foram caracterizados 71 pacientes diagnosticados com doenca mental, acerca de aspectos sociodemograficos, clinicos e terapeuticos, assistidos no CAPS II de Candeias. Conclusao: A populacao usuaria do CAPS II da cidade de Candeias, estado da Bahia, e composta predominantemente de pacientes do sexo feminino, com idade media na faixa de 30 a 39 anos, seguidores da religiao catolica, com etnia predominante de pardos, com ensino fundamental completo, com naturalidade da cidade de Candeias e diagnosticados predominantemente com patologias mentais relacionadas ao CID F20 – F29 correspondente da esquizofrenia, transtornos esquizotipicos e transtornos delirantes para ambos os sexos. DESCRITORES Saude Mental. Servicos de Saude Mental. Sistemas Computadorizados de Registros Medicos. Saude Publica.

Aspectos toxicológicos da exposição ocupacional a parafina em ciências morfológicas

Paraffin is a petroleum-derived with high purity, causing occupational exposure among workers in the morphological science area. The aim of this study was to review the literature on occupational exposure to paraffin workers in this field. We conducted a literature review through the databases SciELO, LILACS, Bireme, Science direct and Google scholar, in which were selected classical and recent studies relevant to the subject discussion. It was found that papers on occupational exposure to paraffin are scarce, however this hydrocarbon cause nasal irritation,

Auto-exame das mamas como fator de prevenção ao câncer: uma abordagem com estudantes de uma escola pública da cidade de São Francisco do Conde - Bahia

Auto-exame das mamas como fator de prevencao ao câncer: uma abordagem com estudantes de uma escola publica da cidade de Sao Francisco do Conde - Bahia