Relationship Between Cytotoxic T-Lymphocyte-associated Antigen-4: Programmed Death-1 Genes Polymorphisms and Susceptibility to Pediatric B-Cell Acute Lymphoblastic Leukemia.

Programmed death-1 (PD1) and cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) have a vital role in immune checkpoint pathways. Single nucleotide polymorphisms (SNPs) of PD1 and CTLA4 have been reported to be associated with susceptibility to certain autoimmune diseases and cancers. The potential association between SNPs in these immune checkpoint genes and risk of acute lymphoblastic leukemia (ALL) still unclear.

Aberrant ecotropic viral integration site-1 (EVI-1) and myocyte enhancer factor 2 C gene (MEF2C) in adult acute myeloid leukemia are associated with adverse t (9:22) & 11q23 rearrangements.

Acute myeloid leukemia (AML) shows multiple chromosomal translocations & point mutations which can be used to refine risk-adapted therapy in AML patients. Ecotropic viral integration site-1 (EVI-1) & myocyte enhancer factor 2 C gene (MEF2C) are key regulatory transcription factors in hematopoiesis and leukemogenesis & both drive immune escape. This prospective study involved 80 adult de novo AML patients recruited from Oncology Center, Mansoura University, between March 2019 and July 2021.

The prognostic values of the and in Egyptian patients with acute lymphoblastic leukemia: A single-center study.

Background: Interleukin-10 (IL-10) and tumor necrosis factor-alpha (TNF-α) genes contribute to oncogenesis. We evaluated the influence of the IL-10 (G1082A) and TNF-α (G308A) polymorphisms on the prognosis and outcomes of Egyptian patients with acute lymphoblastic leukemia (ALL).

Materials And Methods: We investigated 64 children and 76 adults with ALL, between 2016 and 2019, for the IL-10 (G1082A) and TNF-α (G308A) polymorphisms using allele-specific polymerase chain reaction and polymerase chain reaction-restriction fragment length polymorphism.

Significance of CEBPE Gene Promoter Polymorphism (Rs2239630 G > A ) Assessment in Childhood B-cell Acute Lymphoblastic Leukemia.

Background: A significant association has been reported between CEBPE gene promoter polymorphisms (rs2239630 G > A ) and the incidence of B-cell acute lymphoblastic leukemia (B-ALL). However, no previous study on this issue has been included among the Egyptian cohort of pediatric patients with B-ALL. Therefore, this study was designed to address the associations between CEBPE polymorphisms and susceptibility to B-ALL, as well as its impact on the outcome of B-ALL Egyptian patients with B-ALL.

Prognostic Value of TLE1 Gene Expression in Patients with T-cell Acute Lymphoblastic Leukemia.

Background: Transducin-like enhancer of split 1 (TLE1( is a member of the TLE family of transcriptional co-repressors that control the transcription of a wide range of genes. The aim of this study was to evaluate the prognostic role of TLE1 gene expression in patients with T-cell acute lymphoblastic leukemia (T-ALL).

Method: This study was conducted on 97 newly diagnosed T-ALL patients admitted to the Mansoura University oncology center (59 males and 38 females) with median age (33 years) in addition to 102 apparently healthy individuals served as a control group.

Clinical Impact of CD25/CD123 Coexpression in Adult B-Cell Acute Lymphoblastic Leukemia Patients.

This study aimed to determine the clinical impact of CD25/CD123 coexpression in adult B-cell acute lymphoblastic leukemia (B-ALL) cases. One hundred and twenty newly diagnosed B-ALL patients (≤60 years old) were included in this study. CD123 and CD25 expression on leukemic blast cells were assessed using flow cytometry.

Thrombophilic Risk of Factor V Leiden, Prothrombin G20210A, MTHFR, and Calreticulin Mutations in Essential Thrombocythemia Egyptian Patients.

Objectives: Essential thrombocythemia (ET) is one of the myeloproliferative neoplasms characterized by a sustained elevation of platelet numbers with a tendency for thrombosis and hemorrhage. The aim of this work is to establish the relation between calreticulin, factor V Leiden, prothrombin G20210A, and MTHFR mutations in ET patients and the thrombotic risk of these patients.

Methods: This study was carried out on 120 ET patients and 40 apparently healthy individuals as a control group.

Impact of serum immunoglobulins level and IL-18 promoter gene polymorphism among Egyptian patients with idiopathic thrombocytopenic purpura.

Objectives: Based on the concept of immune dysregulation in immune thrombocytopenic purpura (ITP) and that Interleukin-18 (IL-18) is an inflammatory cytokine that plays an important role in autoimmune disease by inducing interferon-γ secretion; this study aimed to assess a possible association between the IL-18 promoter polymorphisms (-607 C/A site) and genetic susceptibility to ITP and the impact of the immunoglobulins (Igs) concentrations level on disease severity and response to therapy.

Methods: A cross-section study was done on 105 patients' age range from 10 to 28 years, with newly diagnosed ITP at the Oncology Center Mansoura University over the past 2 years and 100 healthy subjects as a control group. For all patients and controls, the IL-18 promoter polymorphism (-607 C/A site) as well as serum Ig (IgG, IgM, IgA) concentration was determined.

Clinicopathologic Effect of DNMT3A Mutation in Adult T-Cell Acute Lymphoblastic Leukemia.

Background: The present study aimed to determine the frequencies and clinicopathologic effect of a DNMT3A [DNA (cytosine-5)-methyltransferase 3A] mutation in patients with adult T-cell acute lymphoblastic leukemia (T-ALL).

Patients And Methods: A total of 64 patients with T-ALL who had been admitted to Mansoura University Oncology Center were included in the present study. For all patients, DNA extraction and amplification with sequencing analysis using the 310 ABI genetic analyzer for detection of a mutation (R882H).

Prevalence and Clinical Effect of IDH1 and IDH2 Mutations Among Cytogenetically Normal Acute Myeloid Leukemia Patients.

Background: The frequencies of isocitrate dehydrogenase (IDH) 1 and IDH2 mutations among patients with de novo acute myeloid leukemia (AML) are different among different ethnic groups. The aim of this study was to determine the frequencies of IDH1 and IDH2 mutations among Egyptian AML patients and its effect on patient outcomes.

Patients And Methods: This study was conducted in 211 adult patients (104 men; 107 women; age range, 18-68 years) with cytogenetically normal AML.

Telomerase reverse transcriptase (TERT) A1062T mutation as a prognostic factor in Egyptian patients with acute myeloid leukemia (AML).

This study aimed to evaluate the incidence and clinical and prognostic impact of TERT A1062T mutation in AML patients treated at Mansoura Oncology Center. Screening for TERT A1062T mutation in exon 15 of the TERT gene was performed on diagnostic DNA samples from 153 AML patients and 197 healthy subjects as a control group by using sequence-specific primers. TERT A1062T mutation was detected in 18 cases out of 153 patients (11.

Prevalence and impact of colony stimulating factor 3 receptor (CSF3R) mutations among Egyptian acute myeloid leukemia patients.

Granulocyte-colony stimulating factor receptor (G-CSFR) mutations have been implicated in the progression of severe congenital neutropenia (SCN) to leukemia. This study aimed to investigate the prevalence of colony stimulating factor 3 receptor (CSF3R) mutations among Egyptian acute myeloid leukemia and their clinic-pathological impact. The study was conducted on 179 adult patients (156 de novo AML and 23 secondary AML on top of SCN).

Assessment of recoverability of kidney function in children with obstructive calcular anuria: multicenter study.

Objective: Urolithiasis in children can cause considerable morbidity. Our aim was to evaluate the impact of intervention on the recoverability of kidney functions.

Materials And Methods: This prospective study included 93 children (66 boys and 27 girls) with median age of 3 years (range 0-14).

Massive hydrothorax following subclavian vein catheterization.

Since the introduction of central venous catheterization for monitoring of the venous pressure, fluid infusion and hyperalimentation, the literature has been full of serious life-threatening complications. Of these complications is the false positioning of the central venous catheter and subsequent development of pleural effusion. In this report we are describing a case of iatrogenic massive pleural effusion following subclavian vein catheterization necessitating intercostal tube drainage and mechanical ventilation.

Acute perimyocarditis mimicking transmural myocardial infarction.

Although acute pericarditis has charachteristic electrocardiographic (ECG) findings that differentiate it from acute ST segment elevation myocardial infarction (MI); in certain cases diagnosis is somewhat difficult especially when the ECG reveals focal instead of diffuse changes and moreover when pericarditis is associated with an underlying myocarditis causing elevation of the cardiac biomarkers therefore increasing the difficulty in differentiating between both enteties. This is especially important because adverse lethal side effect can occur if thrombolytic therapy is administered for a patient with acute pericarditis, or if a diagnosis of transmural MI is missed. In this case report we are describing an 18 year old male patient who presented with an acute onset of severe chest pain associated with focal ECG changes and elevated cardiac enzymes mimicking transmural MI.