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Aim: To evaluate the frequency and prognostic impact of DNA methyltransferase 3A (DNMT3A) gene mutation on response to induction therapy in newly diagnosed acute myeloid leukemia patients. Study Design: Cross-sectional descriptive study. Place and Duration: Hematology units of Suez Canal and Ain Shams schools of Medicine, Egypt. Between September 2016 and July 2017. Methodology: The study enrolled forty patients (male: female ratio was 1; mean age was 52.4 ± 19.4 years) with newly diagnosed de novo AML before starting induction therapy. DNMT3A mutations were detected using dye terminator sequencing technique for the second part of DNMT3A, encompassing the PHD and methyltransferase domains and representing exons 11 till the last exon 23. Hematological, cytogenetic studies and DNMT3A mutation results were compared to the patients’ hematological response to induction therapy. Results: Fourteen patients (35%) of the study participants had DNMT3A mutations while 65% had the wild type. Approximately 49.5% of mutations occurred in exon 23, the most common mutations were (R882C and R882H mutations; 28.5% and 21%, respectively). Out of 14 patients with DNMT3A mutation, 9 patients had incomplete remission and only 5 achieved complete remission with no statistically significant association. Odds ratio of the response to induction therapy according to DNMT3A mutation status was 1.32 times higher to show incomplete remission than in wild-DNMT3A patients. Conclusion: DNMT3A mutation has high prevalence in AML Egyptian patients with non-statistically significant difference between mutated DNMT3A and wild type when related to the impact on remission rates after induction therapy.
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Abstract Objectives: To assess the level of fecal calprotectin in preterm neonates with feeding intolerance, as well as to evaluate it as a marker of feeding intolerance and to determine a cut-off level of fecal calprotectin in feeding intolerance. Methods: Analytical, multicenter, case-control study, which was carried out in neonatal intensive care units in Egypt, in a period from August 1, 2014 to March 1, 2015 on 52 preterm neonates. Neonates were classified into two groups; a study group including 26 neonates who met inclusion criteria and a control group including 26 neonates for comparison. Results: Fecal calprotectin levels ranged from 3.9 µg/g to 971.8 µg/g, and there was a significant increase in fecal calprotectin in the study group when compared to the control group (334.3 ± 236.6 µg/g vs. 42.0 ± 38.2 µg/g, respectively) with moderate inverse significant correlation between fecal calprotectin and birth weight. Furthermore, there was moderate, significant correlation between fecal calprotectin and duration of breastfeeding range. On the other hand, there was no correlation between fecal calprotectin and post-natal age, gestational age, or volume of feeding. A cut-off at the 67.0 µg/g level, with 100.0% sensitivity and 76.9% specificity, was considered. Conclusion: Fecal calprotectin level increased significantly in neonates with feeding intolerance; it can be used to detect early cases with necrotizing enterocolitis in neonates, but this subject still needs more investigations on more patients.
Resumo Objetivos Avaliar o nível de calprotectina fecal em neonatos prematuros com intolerância alimentar, além de avaliá-lo como um indicador de intolerância alimentar e determinar um nível de corte da calprotectina fecal na intolerância alimentar. Métodos Estudo caso-controle analítico, feito em um multicentro de unidades de terapia intensiva neonatais no Egito, de 1° de agosto de 2014 a 1° de março de 2015, com 52 neonatos prematuros. Os neonatos foram classificados em dois grupos; um grupo de estudo incluindo 26 neonatos que atenderam aos critérios de inclusão e um grupo de controle incluindo 26 neonatos para comparação. Resultados Os níveis de calprotectina fecal variaram de 3,9 µg/g a 971,8 µg/g e houve um aumento significativo da calprotectina fecal no grupo de estudo quando comparado com o grupo de controle (334,3 ± 236,6 µg/g em comparação com 42,0 ± 38,2 µg/g, respectivamente) com correlação inversa, moderada e significativa entre a calprotectina fecal e o peso ao nascer. Adicionalmente, houve correlação moderada significativa entre a calprotectina fecal e a duração do intervalo de amamentação. Por outro lado, não houve correlação entre a calprotectina fecal e a idade pós-natal, a idade gestacional ou o volume de amamentação. Foi considerado um corte nos níveis de 67,0 µg/g; com sensibilidade de 100,0% e especificidade de 76,9%. Conclusão O nível de calprotectina fecal aumentou significativamente em neonatos com intolerância alimentar e podemos usá-lo para detectar casos precoces com enterocolite necrosante em neonatos, porém ainda são necessárias mais investigações em mais pacientes.’.