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1.
BMC Med Genomics ; 15(1): 171, 2022 08 05.
Artigo em Inglês | MEDLINE | ID: mdl-35932035

RESUMO

BACKGROUND: Acute lymphoblastic leukemia is the most prevailing pediatric hematologic malignancy, and various factors such as environmental exposures and genetic variation affect ALL susceptibility and patients outcome. According to genome-wide association studies, several single nucleotide polymorphisms (SNPs) in IKZF1 (rs4132601) and CDKN2A (rs3731249 and rs3731217) genes are associated with ALL susceptibility. Hereupon, this study aimed to discover the association between these SNPs and the risk of childhood ALL among a sample of the Iranian population. METHODS: A total of fifty children with ALL were included in this case-control study, along with an additional fifty healthy children, matched for age and gender. High-resolution melting (HRM) analysis was employed to genotyping rs4132601, rs3731249, and rs3731217. RESULTS: In the patient group, the CT genotype and T allele frequency of rs3731249 were significantly greater than controls (p = 0.01 and p = 0.005, respectively). Moreover, the positive association of CT and dominant model (CT + TT) genotypes and T allele at rs3731249 with the risk of ALL was confirmed (OR = 9.56, OR = 10.76 and OR = 11.00, respectively). There was no significant relation between rs4132601 (IKZF1), rs3731217 (CDKN2A), and childhood ALL. CONCLUSION: The present study indicates that CT genotype and T allele at rs3731249 (CDKN2A) can significantly increase the risk of ALL among children.


Assuntos
Inibidor p16 de Quinase Dependente de Ciclina , Estudo de Associação Genômica Ampla , Fator de Transcrição Ikaros , Leucemia-Linfoma Linfoblástico de Células Precursoras , Estudos de Casos e Controles , Criança , Inibidor p16 de Quinase Dependente de Ciclina/genética , Predisposição Genética para Doença , Genótipo , Humanos , Fator de Transcrição Ikaros/genética , Irã (Geográfico) , Polimorfismo de Nucleotídeo Único , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética
2.
BMC Res Notes ; 15(1): 46, 2022 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-35164849

RESUMO

OBJECTIVE: Acute lymphoblastic leukemia (ALL) is one of the most common cancers in children for which the exact pathogenesis is not yet known. Single-nucleotide variants (SNVs) in different DNA repair genes are reported to be associated with ALL risk. This study aimed to determine the association between XRCC1 (rs1799782) and NBN (rs1805794, rs709816) SNVs and childhood ALL risk in a sample of the Iranian population. Fifty children with ALL and 50 age- and sex-matched healthy children were included in this case-control study. Genotyping of the mentioned SNVs was done by high-resolution melting (HRM) analysis. RESULTS: The prevalence of all three SNVs in XRCC1 and NBN genes did not differ between the patient and control groups, and these polymorphisms were not associated with childhood ALL risk (P > 0.05). HRM was a practical method for the detection of SNVs in XRCC1 and NBN genes. We found no significant association between XRCC1 (rs1799782) and NBN (rs1805794, rs709816) SNVs and childhood ALL risk.


Assuntos
Proteínas de Ciclo Celular/genética , Predisposição Genética para Doença , Proteínas Nucleares/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras , Proteína 1 Complementadora Cruzada de Reparo de Raio-X/genética , Estudos de Casos e Controles , Criança , Reparo do DNA/genética , Proteínas de Ligação a DNA/genética , Genótipo , Humanos , Irã (Geográfico) , Polimorfismo de Nucleotídeo Único , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética
3.
Transfus Apher Sci ; 60(5): 103188, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34144875

RESUMO

OBJECTIVES AND BACKGROUND: In December 2019, the first case of COVID-19 was reported in Wuhan, China. Its causative virus, is a novel strain of RNA viruses with high mortality rate. There is no definitive treatment, but among available approaches the use of recovered patients' plasma containing specific antibodies can enhance the immune response against coronavirus. However, the dearth of eligible donors and also ABO incompatibility in plasma transfusion, have limited this therapeutic method. Therefore, it is highly desirable to introduce a simple procedure that allows efficient reduction or even removal of natural ABO antibodies. Accordingly, we aimed to evaluate a RBC-mediated adsorption technique that reduces the titer of the mentioned antibodies in plasma. METHODS/MATERIALS: This experimental study was conducted in Kerman University of Medical Sciences, Kerman, Iran. The pre- and post-incubation antibody titers of 168 plasma samples were determined. For incubation, each plasma sample was exposed (60 min) to different percentages of RBCs at room temperature or 4 °C. RESULTS: The results evidenced that both the concentration of RBCs and temperature had significant decreasing effects on antibody titer (P < 0.001) and all concentrations significantly reduced titer. Compared to RT, 4 °C further reduced the antibody titer. Overall, the best incubation condition for reducing antibody titer in all blood groups was 4 °C and 2% RBCs concentration. CONCLUSION: The presented adsorption procedure is able to produce universal plasma (we call it Ubiquitous Convalescent Plasma) with a non-immunogenic level of ABO mismatch antibodies which can be used for COVID-19 patients with any type of blood group with desirable simplicity, feasibility, and efficacy.


Assuntos
COVID-19/terapia , Técnicas de Imunoadsorção , Isoanticorpos/sangue , Plasma , SARS-CoV-2 , Sistema ABO de Grupos Sanguíneos/imunologia , Adsorção , Antígenos de Grupos Sanguíneos , COVID-19/sangue , Temperatura Baixa , Convalescença , Contagem de Eritrócitos , Eritrócitos/imunologia , Humanos , Imunização Passiva/métodos , Isoanticorpos/imunologia , Soroterapia para COVID-19
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