Cytogenetic profile of adult acute myeloid leukemia in Egypt: a single-center experience.

BACKGROUND: Acute myeloid leukemia (AML) is a diverse disease characterized by the expansion of blasts of myeloid lineage. Cytogenetic testing is the cornerstone for risk stratification of AML patients. Geographical and environmental factors may play a very important role in the development of leukemia and several differences in genetic profile may be seen among different ethnicities. In our study, we evaluated cytogenetic findings of adult AML patients in South Egypt. METHODS: Cytogenetic testing (karyotyping and M-FISH) was performed for 120 adult patients with AML. Twenty metaphases were analyzed for each patient. RESULTS: In our study, the median age of AML patients was 36.5 years, with an age range between 18 and 86 years. 56.7% of patients had normal karyotypes and 43.3% of patients had clonal cytogenetic abnormalities. t (15;17) was the most detected structural abnormality, and + 8 was the most detected numerical abnormality. Regarding cytogenetic risk stratification, 65% of patients were in the intermediate-risk category. CONCLUSION: The cytogenetic profile of AML patients in our locality showed some differences and some similarities with cytogenetic profiles in different Arab, Asian and Western countries. Further studies are needed using advanced techniques such as next-generation sequencing and optical genome mapping to elucidate more ethnic and geographic genetic heterogeneity among different countries.

The Role of Serum Procalcitonin Level as an Early Marker of Ascitic Fluid Infection in Post Hepatitic Cirrhotic Patients.

AIMS & BACKGROUND: The early diagnosis of spontaneous bacterial peritonitis (SBP) has been considered important in the overall patient's survival. Ascitic fluid culture examination performance, in the emergency setting, is time-consuming and not always available, so there is a need for easy to apply, rapid and reliable markers for diagnosis of patients with ascites. The present prospective study aimed to determine the early diagnostic value of serum procalcitonin (PCT) levels in decompensated cirrhotic patients (DCPs) with SBP. METHODS: 47 HCV cirrhotic patients with ascites were enrolled for this prospective study. The severity of cirrhosis was classified based on the Child-Pugh criteria. All patients were subjected to paracentesis and ascitic fluid (AF) culture. Serum PCT levels were measured using enzyme-linked fluorescence analysis (ELFA). RESULTS: The diagnostic value of serum PCT levels and WBC/PLT ratios for detecting infections were serum PCT levels (3.63 ± 3.47 ng/mL) in DCPs with infections which were significantly higher than in DCPs without infections (0.505 ± 0.230 ng/mL); p < 0.05. The cut-off value for serum PCT levels was 0.7 ng/mL for the diagnosis of infections in DCPs, for which the sensitivity and specificity were 93.1% and 73.2%, respectively. The AUC was 0.91 (95% CI: 0.83-0.99). CONCLUSION: Serum procalcitonin seems to provide satisfactory diagnostic biomarkers in SBP.

Downregulation of B regulatory cells and upregulation of T helper 1 cells in children with Gaucher disease undergoing enzyme replacement therapy.

Gaucher disease (GD) involves a broad spectrum of immunological cells, including T helper (Th) cells and regulatory B cells (Bregs), which function to resolve the immune response and inhibit excessive inflammation. This study aimed to explore T helper cells, B cells, and Bregs in GD children undergoing enzyme replacement therapy (ERT). Our study included 20 GD patients; six patients were categorized as type 1 and 14 as type 3 GD. All patients were on regular ERT. Twenty healthy children were enrolled as controls. All patients and controls were subjected to complete blood analysis, abdominal ultrasound, and flow cytometric detection of T helper cells, B cells, and Bregs. Despite undergoing ERT, CD4+ T helper lymphocytes and Bregs were still significantly lower in patients with GD compared with the controls. Th1 and B cells were more in the patients than in the healthy controls. Lower levels of Bregs were found in type 3, compared with type 1 patients. Increased platelet count was directly associated with increased levels of Bregs and lower levels of B cells. Elevated children's height was also accompanied by decreasing levels of Th1. Our results propose that ERT in GD is associated with partial improvement in immune status, and long-term ERT might be needed for the restoration of the desired immune response levels. Levels of Bregs and Th1 can be employed for monitoring improvement of immune status in GD patients undergoing ERT.