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   Table of Contents - Current issue
Coverpage
July-September 2019
Volume 44 | Issue 3
Page Nos. 157-194

Online since Thursday, December 5, 2019

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ORIGINAL ARTICLES  

Study of N-acetyl transferase 2 single-gene polymorphism (rs1799931) in patients with acute myeloid leukemia p. 157
Muhammad T AbdelGhafar, Alzahraa A Allam, Sara Darwish, Ghada M Al-Ashmawy, Kareman A Eshra, Rowida R Ibrahim
DOI:10.4103/ejh.ejh_20_19  
Background The genetic background has emerged as a risk factor for acute myeloid leukemia (AML) progression. N-acetyl transferase 2 (NAT2), as an enzyme, plays a pivotal role in detoxifying the carcinogenic compounds. The NAT2 gene is highly polymorphic and is found to be associated with the process of tumorigenesis and the progression of many cancers. Objective This was a case–control study adopted to explore the possible association of NAT2 gene polymorphism rs1799931 (G857A) with the susceptibility of AML progression in the Egyptian cohort. Patients and methods This study was performed during the period spanning from February 2017 to December 2018 on 60 AML cases and 80 controls. NAT2 gene rs1799931 (G857A) polymorphism was genotyped by real-time PCR technique. The NAT2 genotype and allele distributions between the cases and controls were compared by χ2-test. Association strength between NAT2 gene single-gene polymorphism (rs1799931) and AML susceptibility was expressed by odds ratios (ORs) and 95% confidence intervals (CIs) and adjusted to the confounding variables. Results The NAT2 rs1799931 genotypes’ and alleles’ distribution frequencies were significantly different between AML cases and controls (P<0.05). The GG genotype and G allele frequencies were significantly higher than those of the AA genotype (P=0.027) and A allele (P=0.003) in AML cases if compared with the controls. GG genotype presents a higher susceptibility to AML than the AA genotype (OR: 3.765; 95% CI: 1.167–12.15), and the G allele exhibited 2.365-folds increased adjusted risk for AML if compared with the A allele (OR: 2.365; 95% CI: 1.344–4.163). Conclusion NAT2 gene rs1799931 (G857A) is associated with increased susceptibility to AML in the Egyptian population with the GG genotype and G allele carrying a higher risk for AML. Further studies should be performed to verify the present results.
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The role of human monocyte-expressing markers (CD163 and MR/CD206) in pediatric sepsis p. 163
Eman NasrEldin, Khalid Ahmed
DOI:10.4103/ejh.ejh_24_19  
Background The diagnosis of pediatric sepsis requires sensitive biomarkers to start effective prompt treatment. We evaluated the significance of the haptoglobin–hemoglobin receptor (CD163) and the mannose receptor (MR/CD206) expression and their soluble serum levels as early diagnostic markers for pediatric sepsis. Patients and methods This prospective study investigated 50 pediatric patients suspected of having sepsis and 50 age-matched healthy control children. Detection of monocyte expression of CD163 and MR was analyzed by flow cytometric technique, and the soluble serum levels of CD163 and MR were determined by enzyme-linked immunosorbent assay. The diagnostic values of the monocytes’ related markers were assessed using the area under the receiver operating characteristic (AUROC) curve. Results The monocyte expression of CD163 and MR/CD206 and their serum levels were significantly higher in the septic patients than in the controls. We show that the sensitivity of sMR to predict sepsis exceeded that of either C-reactive protein or procalcitonin (area under the curve= 0.98, 0.86, and 0.82, respectively). sMR had higher area under the curve than soluble macrophage-related protein 163 [0.93; 95% confidence interval (CI): 0.79–0.98] followed by monocyte-bound CD163 expression (0.77; 95% CI: 0.61–0.93) and then MR/CD206 (0.68; 95% CI: 0.56–0.90). Conclusion The study supports the important significance of the monocyte/macrophage-related markers for prediction of sepsis in children and highlights the potential diagnostic use of their soluble forms as new pediatric sepsis biomarkers.
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Single nucleotide polymorphism in FCƔRIIa and FCƔRIIIa and its association with the incidence of childhood primary immune thrombocytopenia p. 168
Rabab A Mohamed, Dalia S Morgan, Manal M Anwar, Noha A Doudar
DOI:10.4103/ejh.ejh_7_18  
Introduction Immune thrombocytopenia purpura (ITP) is characterized by severe autoimmune destruction of platelets. Genetic factors play an important role in its pathogenesis. The objective of this study is to investigate the association of FCƔRIIa and FCƔRIIIa gene polymorphism with childhood ITP regarding the severity and response. Patients and methods A total of 55 pediatric patients with ITP and 55 age-matched and sex-matched healthy controls were enrolled in the study to detect the association between the polymorphisms and ITP. Genotyping of FCƔRIIa was performed using PCR-restriction fragment length polymorphism, and genotyping of FCƔRIIIa was performed via TaqMan 5’-allelic discrimination technique. Results Distribution of FCƔRIIa single nucleotide polymorphism (SNP) alleles revealed that the allele frequency distribution for children with ITP was 56.4 and 43.6% for H and R alleles, respectively, with no statistically significant differences when compared with control (P=0.891). The frequency distribution of FCƔRIIa genotypes of patients with ITP showed no statistically significant differences when compared with control (χ2=10.3, P=0.005). Regarding FCƔRIIIa SNP genotypes, the heterozygous mutant VF genotype was statistically higher in patient group compared with healthy control. Conclusion There is a role of heterozygous VF genotype and FCƔRIIIa V/F SNP in the pathogenesis of childhood ITP. No association between the development of ITP and FCƔRIIa gene polymorphism was found. Both FCƔRIIa R/H and FCƔRIIIa V/F are not related to severity of ITP or response to treatment.
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X-ray cross-complement 1 gene polymorphisms (Arg399Gln and Arg194Trp) in patients with acute myeloid leukemia p. 175
Metwaly I Mortada, Ahmed H El-Sebaie, Doaa A Aladle, Maha E Elzaafarany, Lotfy A.N Mahmoud
DOI:10.4103/ejh.ejh_22_19  
Background Acute myeloid leukemia (AML) is a clonal disorder characterized by acquisition of somatic mutations in hematopoietic progenitors leading to disruption of differentiation. X-ray cross-complement 1 (XRCC1) gene is a key component of the base excision repair pathway that may be involved in the repair of SS-DNA breaks. Polymorphisms in DNA repair genes may affect the DNA repair capacity and modulate cancer susceptibility by means of gene–environment interactions. This study aimed to evaluate the association between XRCC1 gene polymorphisms and the risk of development of AML and their impact on patients’ outcome. Materials and methods This study was conducted on 92 adult patients with AML of different FAB subtypes before induction of chemotherapy. They were selected from the Oncology Center Mansoura University, Egypt. Ninety-two healthy individuals served as a control group. Results The data obtained after the XRCC1 gene polymorphism study revealed that the Trp194Trp genotype and Trp allele showed higher frequency in AML cases compared with the control group. In addition, they were associated with a significant high risk of AML development within healthy participants (P=0.04). No significant differences were found in rs1799782 and rs25487 genotypes and alleles between cases and controls. Also, there was significant difference in overall survival in cases with XRCC1 Trp194Arg genotypes (P=0.048) and cases with Trp194Arg+ Trp194Trp (P=0.023) when compared with those with the Arg194Arg genotype. Conclusion Individuals with mutant Trp194Trp allele had a higher risk to develop AML and that the Trp194Arg+Trp194Trp genotype could predict poor prognosis in AML patients. This suggests XRCC1 polymorphism to be a novel target for new effective therapies of AML.
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Prognostic value of red cell distribution width, platelet parameters, and the hematological scoring system in neonatal sepsis p. 183
Suzan O Mousa, Asmaa N Moustafa, Hend M Aly
DOI:10.4103/ejh.ejh_12_19  
Purpose Neonatal sepsis has wide variations of clinical presentations, which may not reflect the severity of the disease. Our objective was to investigate the prognostic value of the hematological scoring system (HSS), red cell distribution width (RDW), mean platelet volume (MPV), and platelet distribution width (PDW) in neonatal sepsis at the time of admission to the neonatal ICU. Patients and methods The study included two groups: the neonatal sepsis group which included 64 neonates with neonatal sepsis and the control group which included 60 neonates with sex, gestational, and postnatal ages matched with the previous group. RDW, MPV, and PDW were measured for all included neonates. Score for Neonatal Acute Physiology-II score and HSS were determined for the sepsis group within 12 h of admission to the neonatal ICU. Results RDW, MPV, and PDW were significantly higher in the sepsis group than the control group (P<0.0001). RDW, MPV, PDW, and HSS were not significantly different between neonates with culture-proven sepsis and those with probable sepsis (P>0.05). But on comparing their levels in survivors with the nonsurvivors, all of them were significantly higher in the nonsurvivors (P<0.05), except for HSS (P=0.4). RDW was the most sensitive hematological marker studied to predict mortality, as RDW and Score for Neonatal Acute Physiology-II score more than or equal to 40 had the same sensitivity of 77.8%, followed by MPV (61.1%), and then PDW (50%). Meanwhile, the MPV was the most specific (88.1%). Receiver operating characteristic curve analysis for HSS was not of statistical significance (P>0.05). Conclusion RDW is the most sensitive hematological marker to predict mortality in neonatal sepsis, followed by MPV and PDW. HSS is still a diagnostic rather than a prognostic score.
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CASE REPORTS Top

Immune thrombocytopenic purpura and tuberculosis: a rare association with management implications p. 190
Cherumkuzhiyil Abdulla Mansoor
DOI:10.4103/ejh.ejh_8_19  
Immune thrombocytopenia is a rare hematological manifestation associated with tuberculosis (TB). A 68-year-old postmenopausal woman was admitted to our hospital with fever and headache for 3 months and lower limb petechial rash since 1 day. She was evaluated and diagnosed to have central nervous system TB. She also had isolated thrombocytopenia and elevated platelet-associated IgG antibodies with a normal bone marrow study. Steroids combined with anti-TB drugs corrected thrombocytopenia and cured TB. We describe a rare hematological manifestation associated with TB and its management to make the readers aware of such unusual presentations of TB.
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A case of hemoglobin J-Meerut detected from Gujarat, India p. 193
Anand K.G.S Wahengbam, Khushbu Kumari, Kallur N Saraswathy, Benrithung Murry
DOI:10.4103/ejh.ejh_13_19  
A 19-year-old man who participated in the thalassemia screening program was found to have a normal hematological parameter with a slightly elevated mean corpuscular hemoglobin concentration (MCHC) and RDW (CV). The high-performance liquid chromatography also shows normal hemoglobin (Hb) F and Hb A2, but falls within the α-thalassemia trait and became suspected in the presence of a Hb variant. Hb electrophoresis was performed and molecular characterization was done with Sanger sequencing, and then identified the variant as Hb J-Meerut. Proper identification of such variant Hb could avoid mismanagement of diabetic patients as it is earlier reported to show a falsely lower level of HbA1c than expected.
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