This is the first report to study BIRC6 gene in pediatric ALL. Our results suggested that BIRC6 gene expression could be considered as an adverse risk factor in childhood acute leukemia and, hence, could be used to guide therapeutic regimens.

In patients with end-stage renal disease (ESRD), hemorrhagic complications are commonly encountered due to abnormalities in primary hemostasis, in particular, platelet (PLT) dysfunction and impaired PLT-vessel wall interaction. The pathogenesis of altered PLT function is considered multifactorial. Dialysis procedures had a favorable impact on bleeding complications in uremic patients. We aimed to evaluate the effect of hemodialysis on PLT function in patients with ESRD on a regular hemodialysis program. This study was carried on 40 ESRD Egyptian patients undergoing regular hemodialysis. Twenty healthy subjects were studied as a control group. Samples were assayed for PLT function by PLT function analyzer-100 (PFA-100) before and after the hemodialysis session. Prolonged closure time (CT) was found in 90% of patients before hemodialysis session and returned to normal ranges after hemodialysis session in 22% of those patients. The CT was longer among patients before and after hemodialysis session compared to controls (p < 0.01 and p = 0.02, respectively), while it was shorter among patients after hemodialysis session compared to before hemodialysis session (p = 0.004). Hemoglobin (Hb) level and hematocrit (Hct) values were higher in control group compared to patient group before hemodialysis session (p < 0.01 and p = 0.001, respectively), patients after hemodialysis session (p < 0.01 and p = 0.02, respectively) and also in patients after hemodialysis compared to before hemodialysis session (p = 0.001 and p < 0.01, respectively). The percentage change in PLT count was positively correlated with that of Hb (p = 0.01). We concluded that PLT dysfunction is encountered in ESRD Egyptian patients, and hemodialysis has the ability to correct some part of these hemostatic disturbances.

ObjectiveTraditional prognostic factors have proved insufficient to account for heterogeneity in the clinical behavior of chronic lymphocytic leukemia (CLL). Cryptochrome-1 (CRY-1) is a circadian clock gene essential in maintaining the circadian rhythm and regulating cell proliferation. We evaluated CRY-1 gene expression in CLL and addressed its putative role as a prognostic indicator for the clinical course of CLL.Materials and MethodsA total of 100 CLL patients at diagnosis were studied for CRY-1 gene expression by real-time reverse-transcription polymerase chain reaction and were followed for assessment of time to first treatment (TFT).Results CRY-1 was expressed in 94% of the CLL patients at diagnosis. The median CRY-1 relative gene expression level (0.006) stratified patients into high and low expression groups. Forty of 100 (40%) CLL patients showed high CRY-1, 54/100 (54%) showed low CRY-1, and 6/100 (6%) had undetectable CRY-1 gene expression. High CRY-1 gene expression was concordant with CD38+, Zap-70+, and double CD38+Zap-70+ expression; unfavorable/intermediate cytogenetics; unmutated immunoglobulin heavy-chain variable-region gene; and diffuse marrow infiltration. The high CRY-1 gene expression patient group exhibited shorter TFT than the patients with low CRY-1 gene expression. A Cox proportional hazard regression model identified CRY-1 gene expression to be independently predictive for TFT.Conclusion CRY-1 is differentially expressed among CLL patients, stratifying them into low-risk and high-risk groups. CRY-1 gene expression could constitute a reliable prognostic indicator for CLL progression, complementing the role of standard well-established prognostic factors. CRY-1 gene expression could be employed as a prognostic indicator for disease progression during the initial prognostic work-up and follow-up for CLL patients.

Venous thromboembolism (VTE) is a common complication in cancer patients. Several genetic risk factors related to thrombophilia are known; however, their contributions to thrombotic tendency in cancer patients have conflicting results. We aimed to determine the prevalence of factor V Leiden (FVL), prothrombin (PTH) G20210A and methylene tetrahydrofolate reductase (MTHFR) C677T gene polymorphisms in Egyptian nonmetastatic cancer patients and their influence on thrombosis risk in those patients. Factor V Leiden, PTH G20210A and MTHFR C677T polymorphisms were detected in 40 cancer patients with VTE (group 1) and 40 cancer patients with no evidence of VTE (group 2) by PCR-based DNA analysis. Factor V and MTHFR mutations were higher in group 1 than in group 2 (factor V heterozygous mutation: 20 vs. 7.5%, homozygous mutation: 10 vs. 2.5%; MTHFR heterozygous mutation: 40 vs. 25%, homozygous mutation 5 vs. 0%, respectively) (P = 0.03). Mortality rate was higher in group 1 (75%) than in group 2 (25%; P < 0.001). No difference was found between those groups regarding PTH mutation (P = 1). Mortality rate was higher in the presence of homozygous and heterozygous factor V mutation (100 and 82%, respectively) compared to the wild type (41%) (P = 0.0006). Having any of the three studied gene mutations worsened the overall survival (P = 0.0003). Cox regression proved that both thrombosis and presence of factor V mutation are independent factors affecting survival in cancer patients (P < 0.001 and P = 0.01, respectively). In conclusion, there is an association between factor V and MTHFR mutations and risk of VTE in Egyptian cancer patients. Thrombosis and presence of factor V mutation are independent factors that influence survival in those patients.

Background Thalassemias are monogenetic hematologic disorders which are caused by faulty synthesis of one or more of the Hb chains which leads to imbalance in globin chains resulting in hemolysis and impaired erythropoiesis and chronic inflammatory condition. Visfatin is a pro-inflammatory adipocytokine which is mostly expressed in visceral adipose tissue and its testing may help in assessment of severity of the disease. Aim of the work This study aims at measuring serum visfatin level in Beta thalassemia patients and its possible correlation to disease severity (major andintermedia). Patients and methods Forty-one patients diagnosed as β-thalassemia (major, intermedia) and twenty age and sex-matched healthy individuals as the control group were tested for serum visfatin levels by enzyme-linked immunosorbent assay. Results Serum visfatin was higher in theß-thalassemia major(ß-TM) group than in the control group (P&lt;0.001). Serum visfatinand serum ferritin were higher inß-TM group than in ß-thalassemia intermediagroup (ß-TI)(p &lt; 0.001).Serum visfatin was found positively correlated with platelet count (P&lt; 0.001) in the ß-TM group.As per ROC curve analysis, measured serum visfatin level was found to discriminate ß-TM group from β-TI group and control group. Conclusion There is an association between serum visfatin and the degree of severity of β thalassemia disease. Recommendations Testing of the relationship between serum visfatin level and other vascular inflammatory markers in β-thalassemia disease (asadiponectin, resistin, intracellular adhesion molecule (ICAM)) to clarify the exact mechanism of the inflammatory process in the disease and its complications to alter the course of the disease.Also to study serum visfatin in complicated β-thalassemia patients to establish its possible role in cardiac, vascular, endocrine or any other complications and comparing it with non-complicated patients.

Introduction Nucleophosmin 1 (NPM1) mutation is one of the most frequent gene mutations in adult acute myeloid leukemia (AML), being detected in 35% of all cases and in up to 60% of patients with normal karyotype AML. AML with mutated NPM1 has distinct pathology, immunophenotyping, and confirmed favorable prognostic significance. Hence, AML with mutated NPM1 is a separate entity in the revised 2016 World Health Organization classification. This study aimed to evaluate the use of a reproducible flow cytometry approach in the assay of mutant NPM1 protein in AML patients and to correlate flow cytometric results with the NPM1 gene mutation. Methods Eighty‐nine newly diagnosed AML patients were evaluated for the expression of mutant NPM1 using flow cytometry and for the presence of NPM1 exon 12 mutations using high‐resolution melting polymerase chain reaction (HRM PCR). Results The NPM1 mutation was found in 35 (39.3%) patients by HRM PCR. These patients showed a significantly higher level of percentage of positive‐stained cells (% positive cells) and normalized median fluorescence intensity (MFI) for mutant NPM1 by flow cytometry than the negative mutation group. Conclusion Flow cytometric detection of mutant NPM1 offers a possible tool to indicate NPM1 mutational status.

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