Background Neonatal sepsis is a global burden, being a leading cause of neonatal morbidity and mortality worldwide. Platelet glycoprotein VI (GPVI) affects sepsis at multiple stages of the inflammatory response. The expression of the GPVI receptor is genetically determined, thus influencing the coagulation processes. The authors focused in this study on the role of platelet GPVI genetic polymorphism T13254C (rs1613662) in neonatal sepsis in relation to other risk factors, laboratory tests, sepsis progression, and outcome. Methods The authors studied 50 neonates with early-onset sepsis. The authors detected platelet GPVI T13254C polymorphism using the TaqMan allelic discrimination method by the real-time polymerase chain reaction technique. Results The results showed that GPVI mutant polymorphic group was associated with higher D-dimer levels (P=0.032). Moreover, septic neonates with mutant homozygous type showed poor survival (P=0.047). However, GPVI mutant polymorphic types were not significantly related to other demographic, laboratory data, and different scoring systems, such as sepsis-induced coagulopathy score, International Society on Thrombosis and Hemostasis score, and Score for Neonatal Acute Physiology. Conclusion The authors found a relation between platelet GPVI T13254C polymorphism and D-dimer levels, hence suggesting a relation with neonatal sepsis-associated coagulopathy, which might further affect patients’ outcome.

Background Thrombocytosis has a multitude of potential etiologies: spurious, reactive, and clonal. Clonal thrombocytosis carries a greater risk of thrombosis than reactive causes. Therefore, careful distinction between the causes of thrombocytosis is important and challenging as it carries implications for evaluation, prognosis, and treatment strategies. Aim of the work To determine the frequency of JAK2V617F and calreticulin (CALR) somatic mutations in patients with thrombocytsis and their relation with clinical and hematological phenotype. Patients and methods A total of 50 BCR-ABL-negative patients with persistent thrombocytosis were tested for both JAK2V617F mutation by real-time polymerase-chain reaction (RT-PCR) and CALR exon-9 mutation by high-resolution melting PCR. Results JAK2V615F mutation was detected in 17 (34%), whereas CALR exon-9 mutation was detected in 10 (20%) out of the 50 studied patients with thrombocytosis. One patient with essential thrombocythemia was heterozygous for both mutations. The incidence of JAK2V615F mutation was significantly higher in males (P=0.007), with higher mean age (P=0.001), higher incidence of thrombosis (0.034), and leukocytosis (0.035) compared with CALR and dual-negative mutations. Meanwhile, anemia (P=0.001), platelets (P=0.009), and lactate dehydrogenase (P=0.009) were significantly higher in CALR-mutated patients. Conclusion Both JAK2 and CALR somatic mutations were detected in 52% of patients with thrombocytosis. CALR-mutated cases show clinical and hematological phenotype different from JAKV617F-positive ones and might be considered as a distinct disease entity with more indolent course.

Objective The objective of this study was to determine the frequency of transforming growth factor beta 1 (TGFβ1) C-509T gene polymorphism and its relation to bone complications in patients with β-thalassemia major in Egypt. Background Osteoporosis is the most prevalent bone complication in patients with β-thalassemia major despite regular blood transfusions and iron chelation therapy. It is characterized by low bone mineral density (BMD) resulting in reduced bone strength and increased risk of fractures. Genetic factors play an important role in the determination of BMD. The TGFβ1 gene, which encodes TGFβ1, is a strong candidate for susceptibility to osteoporosis, and several studies have reported associations between BMD and different polymorphisms of TGFβ1, although these studies have yielded conflicting results. Study design and methods Single nucleotide polymorphism in the TGFβ1 gene promoter (C-509T) was investigated in 100 regularly treated Egyptian children with β-thalassemia major by PCR/RFLP genotyping. BMD was measured by dual-energy radiograph absorptiometry and expressed as Z score. Results The frequency of TGFβ1 gene polymorphism C-509T genotypes in all studied patients was 6% for homozygous CC, 85% for heterozygous CT, and 9% for homozygous TT. C allele frequency was 48.5%, whereas T allele frequency was 51.5%. BMD Z score was significantly higher in TT genotype compared with CC genotype, with P value less than 0.05. Patients were grouped on the basis of BMD Z score: 51 (51%) patients with BMD deficit (Z score <−1) and 49 (49%) with normal BMD (Z score ≥−1). TGFβ1 gene polymorphism C-509T genotypes were distributed differently between the two groups; the TT genotype frequency was lower in patients with BMD deficit (P<0.05). Conclusion TGFB1 gene polymorphism C-509T is associated with BMD and genetic susceptibility to osteoporosis and may play a role in the pathogenesis and modification of bone complication in β-thalassemia major. BMD deficit is common in Egyptian children with β-thalassemia major. Analysis of this polymorphism at an early age could help in identification of thalassemic children at risk of osteoporosis and early management. However, large-scale studies are required to confirm these findings.

Background The CD34+ stem cells are either noncryopreserved (non-CP) or cryopreserved (CP) in autologous stem-cell transplantation (ASCT). Some retrospective studies have shown that engraftment failure and engraftment rate are similar in CP cells and infusion reactions are lower in CP cells due to the absence of dimethyl sulfoxide. Objective In this study, we presented our clinical experience comparing the outcomes and safety of ASCT with CP and non-CP stem cells. Patients and methods A total of 163 patients were enrolled between January 2019 and June 2021. Duration of neutrophil/platelet engraftment, rates of infusion-related reactions, febrile neutropenia, and duration of hospitalization were compared between the CP and non-CP groups. Results Fifty five (33.7%) received CP cells, 108 (66.3%) received non-CP cells. The median dose of CD34+ cells was similar in both groups (P=0.755). The median duration of neutrophil and platelet engraftment was not statistically significantly different in CP and non-CP groups (P=0.896 and 0.183, respectively). No statistical difference was observed in the median duration of hospitalization between the two groups [CP: 16 (13–26) vs. non-CP: 15 (11–31) days, P=0.124]. The febrile neutropenia rate was higher in the CP group, but there was no statistical difference between the two groups (CP: 56.4% vs. non-CP, 48.1%, P=0.301). The rates of infusion-related reaction such as nausea, vomiting, and rash were higher in the CP group (21.8 vs. 12%), with no statistically significant difference (P=0.159). Conclusion Non-CP cells have similar outcomes to CP cells and lower toxicity than CP cells, which are safe and effective in ASCT.

Introduction Thromboembolism is a frequent complication in thalassemia. Platelet microparticles (PMPs) may have a role in the hypercoagulability in thalassemia. Objective To determine the levels of PMPs in β-thalassemia intermedia (β-TI) patients and whether increased levels of PMPs in these patients are correlated with coagulation parameters or not. Patients and methods Sixty-three β-TI patients, classified into 46 nonsplenectomized (NS) patients, 17 splenectomized (S) patients, and 20 age-matched and sex-matched volunteers as controls. For all, full medical history, through clinical examination, and laboratory investigations: complete blood count, prothrombin time, prothrombin concentration, activated partial thromboplastin time, FVIII, FXI, fibrinogen, D-dimer, and PMPs were detected by using flow-cytometry approach. Results PMPs were significantly higher in S and NS β-TI patients than controls (P<0.001, P=0.002), respectively. FVIII and D-dimer were significantly higher in S patients than controls (P=0.004, 0.048), respectively. Fibrinogen level was significantly lower in both NS and S β-TI patients than in controls (P<0.001). A significant positive correlation between PMPs and platelet count in S patients (r=0.549, P=0.023). Conclusion Thrombotic risk in β-TI patients is related to increased circulating PMPs and platelet count. Splenectomy was considered a risk factor of thrombosis in our study.

Background The neutrophil–lymphocyte ratio (NLR) and monocyte–lymphocyte ratio (MLR) in the peripheral blood are used as indicators of systemic inflammation and predictors of cardiovascular (CV) diseases. Aims To study the relation between both NLR and MLR and the prediction of cardiovascular events (CVE) in end-stage renal disease (ESRD) patients on regular hemodialysis. Patients and methods In all, 70 ESRD patients on regular hemodialysis were followed up for 12 months. NLR, MLR, and their individual components were determined at baseline and in the follow-up months. The changes in NLR and MLR after 12 months were compared. High-sensitivity C-reactive protein and echocardiography studies were done at baseline and after 12 months. Major CVE were recorded. Results Total leukocyte, absolute neutrophil, and monocyte counts were significantly increased over time. The presence of valvular calcification was associated with an increase in both NLR and MLR (P=0.004 and 0.001, respectively) after 12 months. The mean monocyte counts were significantly higher in patients with CV complications. The baseline monocyte count was the best to predict CV complications with a cutoff point more than 0.54 × 10³/µl (sensitivity 100%, specificity 73.85%) in the receiver-operating characteristic curve. Conclusion In ESRD patients, leukocyte counts are in a dynamic change. There was no significant change in NLR or MLR over time and their changes could not predict the occurrence of CVE. The monocyte count is an excellent predictor of CV diseases. The presence of valvular calcification is associated with increases in both NLR and MLR over time.

Background Acute lymphoblastic leukemia (ALL) is a neoplastic disease that results from multistep somatic mutations in a single lymphoid progenitor cell. MicroRNAs (miRNAs) are critical regulators of gene expression, tumor suppression, and oncogenesis. Aim To evaluate miRNA-511 and miRNA-16 expression in Egyptian adult patients with B-ALL. Patients and methods A total of 37 newly diagnosed adult patients with B-ALL admitted to Alexandria Main University Hospital in 2019 were included. Complete blood count, bone marrow aspiration, immunophenotyping, BCR-ABL testing, karyotyping, miRNA extraction using miRNeasy Mini followed by cDNA synthesis AQ6 (RQ-PCR combines cDNA synthesis from RNA templates using miScript II RT kit), and finally real-time PCR for miRNA-511 and miRNA-16 expression were among the investigations that were conducted. Results Mean age of patients with ALL was 30.65 ± 10.39 years, with male to female ratio of 1.4 : 1. Cytogenetic findings showed that only three patients had favorable risk, and the rest were either intermediate risk (19) or high risk (15). Among the high-risk group, there were 11 patients with Philadelphia chromosome (BCR-ABL 190) positive. Regarding the expression of miRNAs, most patients showed overexpression of both miRNA-16 and miRNA-511. MiRNA-511 was overexpressed in 81.1% (30) patients; among these patients, 43.3% (13) had adverse cytogenetic findings. MiRNA-16 was overexpressed in 70.3% (26) of patients, and half of them (13) had adverse cytogenetic findings. receiver operating characteristic curves showed diagnostic significance in B-ALL for miRNA-16, with sensitivity of 75.7% and specificity of 80%, and for miRNA-511, sensitivity was 89.2% and specificity was 90% (P<0.05). Conclusion MiRNA-16 and miRNA-511 were significantly overexpressed in adult patients with B-ALL. They have a role in diagnosis but a weak role in patient prognosis.

Background Hypercoagulability is a known complication of thalassemia, in particular, thalassemia intermedia. Several factors contribute to this hypercoagulability, including chronic platelet activation and the presence of other comorbid conditions. In addition, the oxidation of globin subunits in thalassemic red blood cells (RBCs) triggers the formation of reactive oxygen species. These factors lead to the exposure of negatively charged phospholipids like phosphatidylserine (PS), which ultimately causes increased thrombin generation, particularly in splenectomized patients. Aim This study aimed to assess the risk for hypercoagulability in thalassemic patients using PS expression on RBCs and the thrombin–antithrombin (TAT) complex in plasma. Patients and methods This study included 50 thalassemic patients (19 patients with splenectomy and 31 patients without splenectomy) and 30 apparently healthy individuals as a control group. Patients were subjected to assessment of history for deep venous thrombosis or pulmonary hypertension by echocardiography. Annexin V was used to detect PS expression on RBCs by flow cytometry, while the enzyme-linked immunosorbent assay was used to detect the TAT complex in plasma. Results Erythrocyte PS expression was significantly higher (P<0.001) in thalassemic patients than in the control group. The TAT complex level revealed no significant difference between thalassemia patients and the control group (P=0.468). Patients with pulmonary hypertension showed a statistically significant higher PS expression and TAT complex level. However, there was no significant increase in PS expression or TAT level in patients with a history of deep venous thrombosis only. Conclusion Increased PS expression and TAT complex level may be a risk factor for pulmonary hypertension in thalassemia patients with splenectomy.

Background Donor shortage in kidney transplantation stimulates trails of live-related transplants across the ABO antibody barrier. Successful desensitization was achieved by repeated plasmapheresis with intensified immunosuppression. This study estimates the effect of serial sessions of plasma exchange on different blood group antibody titers. Patients and methods This is a pilot study that included 25 prescribed plasma exchange treatments with albumin replacement for miscellaneous indications. Patients using plasma as a replacement during sessions, positive direct and indirect antiglobulin test and AB blood group were excluded. Blood group antibody titers were measured by the gel card method before starting plasma exchange and after each session for five sessions. Results The study included a total of 25 patients, 12 (48%) had A1 blood group, eight (32%) had blood group B, and five (20%) had blood group O. The baseline anti-(A) and anti-(B) antibody titers before plasma exchange were median (interquartile range) 128.00 (192) and 64 (64) with significant reduction after five sessions with median (interquartile range) 1 (4) and 2 (1), respectively, with P value less than 0.001. Anti-(A) and anti-(B) antibody titer percent reduction from baseline to fifth session were mean±SD=99.04 ± 0.72 and =97.93 ± 0.99%, respectively. Anti-(A) and anti-(B) antibody titers were negatively correlated with patient’s age (r=0.731, P=0.005; r=0.793, P<0.001, respectively). Patients with age less than 50 (n=13) years have higher anti-(A) and anti-(B) antibodies compared with patients with age more than 50 years (N=12) with P value less than 0.001. Also, on comparing patients on immunosuppressive drugs with patients not on immunosuppressive drugs as regards baseline antibody titers before exchange sessions and after five plasma exchange sessions, there was no significant difference in anti-(B) while anti-(A) titer was higher in patients without immunosuppressive drugs with P valueless than 0.05 and on fifth session, P value of 0.01. Conclusion Serial plasma exchange sessions with albumin replacement is an effective method for ABO antibody titer reduction. Baseline titers seem to be affected by age and adjuvant immunosuppressive therapy.

Intravascular diffuse large B-cell lymphoma is a rare entity where the large lymphoma cells are seen within the vessels. The difficulty is in its diagnosis, as it can have varied presentations affecting multiple systems. Here, we present the case report of a woman with intravascular diffuse large B-cell lymphoma who presented with subcutaneous nodules.

Fungal septic arthritis can occur in immunosuppressed patients, and Aspergillus fumigatus is the most common pathogen involved. Here we describe a case of B-cell acute lymphoblastic leukemia with knee joint fungal septic arthritis. This differential should be kept in mind as late detection and treatment can lead to permanent disability.

The incidence of hematological malignancies is on the rise particularly in developing countries as a result of newer diagnostic technologies and skills. However, the coexistence of chronic myeloid leukemia (CML) and non-Hodgkin lymphoma (NHL) in a single patient simultaneously is extremely rare, with an overall incidence of less than 1%, while the majority of cases (66%) have sequential presentations. We report a 36-year old Nigerian man, who was diagnosed in our facility initially in chronic phase CML, but progressed through accelerated phase to blastic phase CML and was subsequently diagnosed with NHL within weeks of starting hydroxyurea. He also received cyclophosphamide, hydroxydaunorubicin, oncovin, and prednisolone (CHOP) for the NHL. However, he subsequently succumbed to the disease. CML is a triphasic disease with the tendency to acquire new cytogenetic abnormalities particularly transformation to extramedullary disease during its blastic phase. These events may be associated with NHL in the setting of blast crisis. Our case report adds to the growing literature on the coexistence of two separate hematological malignancies in a single patient.