Mediterranean Journal of Hematology and Infectious Diseases最新文献

Background and objectives: Human platelet antigens (HPAs) are alloantigens associated with antiplatelet alloantibodies and the risk of immune thrombocytopenia (ITP). However, few studies have investigated associations among HPAs, antiplatelet autoantibodies, and cryoglobulins.

Methods: We enrolled 43 patients with primary ITP, 47 with hepatitis C virus-associated ITP (HCV-ITP), 21 with hepatitis B virus-associated ITP (HBV-ITP), 25 controls with HCV, and 1013 normal controls. We analyzed HPA allele frequencies, including HPA1-6 and 15, antiplatelet antibodies binding to platelet glycoprotein (GP) IIb/IIIa, Ia/IIa, Ib/IX, IV, human leukocyte antigen class I, cryoglobulin IgG/A/M, and their associations with thrombocytopenia.

Results: In the ITP cohort, HPA2ab, rather than HPA2aa, predicted a low platelet count. HPA2b was associated with the risk of developing ITP. HPA15b was correlated with multiple antiplatelet antibodies. In HCV-ITP patients, HPA3b was correlated with anti-GPIIb/IIIa antibodies. HCV-ITP patients with anti-GPIIb/IIIa antibodies had a higher positive rate of cryoglobulin IgG and IgA compared with those without anti-GPIIb/IIIa antibodies. Overlapping detection was also found among other antiplatelet antibodies and cryoglobulins. Like the antiplatelet antibodies, cryoglobulins were associated with clinical thrombocytopenia, implying their close relationship. Finally, we extracted cryoglobulins to confirm the exhibition of cryoglobulin-like antiplatelet antibodies. In contrast, in primary ITP patients, HPA3b was correlated with cryoglobulin IgG/A/M rather than anti-GPIIb/IIIa antibodies.

Conclusion: HPA alleles were associated with antiplatelet autoantibodies and had different impacts in primary ITP and HCV-ITP patients. HCV-ITP was considered to be a symptom of mixed cryoglobulinemia in HCV patients. The pathophysiology may differ between these two groups.

Advances in molecular biology and genetic testing have greatly improved our understanding of the genetic basis of hematologic malignancies and have enabled the identification of new cancer predisposition syndromes. Recognizing a germline mutation in a patient affected by a hematologic malignancy allows for a tailored treatment approach to minimize toxicities. It informs the donor selection, the timing, and the conditioning strategy for hematopoietic stem cell transplantation, as well as the comorbidities evaluation and surveillance strategies. This review provides an overview of germline mutations that predispose to hematologic malignancies, focusing on those most common during childhood and adolescence, based on the new International Consensus Classification of Myeloid and Lymphoid Neoplasms.

Background: Staphylococcus aureus is an important causative pathogen. The production of biofilms is an important factor and makes these bacteria resistant to antimicrobial therapy.

Objectives: the current study aimed to assess the prevalence of resistance to antibacterial agents and to evaluate the phenotypic and genotypic characterization of biofilm formation among S. aureus strains.

Methods: This study included 50 isolates of Methicillin-resistant S. aureus (MRSA) and Methicillin-Susceptible S. aureus (MSSA). S. aureus was identified by molecular and conventional methods, and antimicrobial resistance was tested with a disc diffusion method. The biofilm formation was performed through the Microtiter plate method. Strains were subjected to PCR to determine the presence of nuc, mecA, icaA, icaB, icaC, and icaD genes.

Results: Of the 50 S. aureus isolates, 32(64%) and 18(36%) were MRSA and MSSA, respectively. A large number of MRSA and MSSA isolates showed resistance to Penicillin and Azithromycin, and a lower number of MRSA and MSSA isolates showed resistance to Amikacin Gentamicin. None of the isolates was resistant to Vancomycin. The MRSA strains had significantly higher resistance against antibiotics than MSSA strains (P = 0.0154). All isolates (MRSA and MSSA) were able to produce biofilm with levels ranging from strong (31.25 %), (16.6%) to moderate (53.12%), (50%) to weak (15.6%), (33.3%) respectively. The MRSA strains had a significantly higher biofilm formation ability than the MSSA strains (P = 0.0079). The biofilm-encoding genes were detected among isolates with different frequencies. The majority of S. aureus isolates, 42 (84%), were positive for the icaA. The prevalence rates of the icaB, icaC and icaD genes were found to be 37 (74%), 40 (80%) and 41 (82%), respectively.

Conclusions: The prevalence of biofilm encoding genes associated with multidrug resistance in S. aureus strains is high. Therefore, identifying epidemiology, molecular characteristics, and biofilm management of S. aureus infection would be helpful.

Background: To explore the feasibility and accuracy of liver iron deposition based on dual-energy CT in thalassemia patients.

Materials and methods: 105 thalassemia patients were examined with dual-energy CT and MR liver scanning. Dual-energy CT was performed to measure CT values on 80kVp, 140kVp, and virtual iron content (VIC) imaging; ΔH was figured out by the difference in CT values between 80kVp and 140kVp. Using the liver iron concentration (LIC) obtained by FerriScan as a gold standard, the correlation between CT measurements and LIC was evaluated. Receiver operating characteristic (ROC) analysis was used to evaluate the diagnostic performance for dual-energy CT in liver iron quantification and stratification.

Results: The correlation analysis between CT measurements and LIC showed that 80kVp, 140kVp, VIC, and ΔH all had a high positive correlation with LIC (P<0.001). The correlation analysis among different degree groups of VIC, ΔH, and LIC showed that the normal, moderate, and severe groups of VIC and ΔH had moderate or high positive correlations with that of LIC (P<0.01), but the mild group had no correlation (P>0.05). ROC analysis revealed that the corresponding optimal cutoff value of VIC was -2.8, 6.3,11.9 HU (corresponds to 3.2,7.0,15.0 mg/g dry weight) respectively, while the ΔH were 5.1, 8.4, 17.8HU, respectively. The area under the receiver operating characteristic curves (AUCs) for both VIC and ΔH increased with LIC thresholds.

Conclusion: Dual-energy CT can accurately quantify and stratify liver iron deposition, contributing to predicting the status of liver iron deposition in thalassemia patients.

Aims: In a longitudinal study, we aimed to assess the correlation between ultrasound transient elastography (TE), serum ferritin (SF), liver iron content (LIC) by magnetic resonance imaging (MRI) T2* along with the fibrosis-4 (FIB-4) score as a screening tool to detect significant liver fibrosis among chronically transfusion-dependent beta-thalassemia (TDT) patients.

Methods: The study was conducted at a tertiary health center treating TDT patients. Transient elastography was performed within 3 months of Liver MRI T2* examinations at the radiology department over a median of one-year duration. T-test for independent data or Mann-Whitney U test was used to analyze group differences. Spearman correlation with linear regression analysis was used to evaluate the correlation between TE liver stiffness measurements, Liver MRI T2* values, and SF levels.

Results: In this study on 91 patients, the median age (IQR) of the subjects was 33 (9) years, and the median (IQR) body mass index was 23.8 (6.1) kg/m². Median (IQR) TE by fibroscan, MRI T2*(3T), Liver iron concentration (LIC) by MRI Liver T2*, and SF levels were 6.38 (2.6) kPa, 32.4 (18) milliseconds, 7(9) g/dry wt., and 1881 (2969) ng/mL, respectively. TE measurements correlated with LIC g/dry wt. (rS =0.39, p=0.0001) and with SF level (rS =0.43, P=0.001) but not with MRI T2* values (rS =-0.24; P=0.98).

Conclusion: In TDT patients, liver stiffness measured as TE decreased significantly with improved iron overload measured as LIC by MRI and SF levels. However, there was no correlation of TE with the fibrosis-4 (FIB-4) score.

Acute lymphoblastic leukemia (ALL) is a malignant disease of hematopoietic stem cells. B cell ALL (B-ALL) is characterized by highly proliferative and poorly differentiated progenitor B cells in the bone marrow. Chromosomal rearrangements, aberrant cell signaling, and mutations lead to dysregulated cell cycle and clonal proliferation of abnormal B cell progenitors. In this study, we aimed to examine hot spot genetic variations in the RUNX1, IDH2, and IL2RA genes in a group of (n=52) pediatric B-ALL. Sanger sequencing results revealed a rare RUNX1 variant p.Leu148Gln in one B-ALL patient with disease recurrence. Additionally, common intronic variations rs12358961 and rs11256369 of IL2RA were determined in two patients. None of the patients had the IDH2 variant. RUNX1, IDH2, and IL2RA variations were rare events in ALL. This study detected a novel pathogenic RUNX1 variation in a patient with a poor prognosis. Examining prognostically important genetic anomalies of childhood lymphoblastic leukemia patients and the signaling pathway components will pilot more accurate prognosis estimations.

Therapy-related myeloid neoplasms (t-MNs) encompass a specific sub-group of myeloid malignancies arising after exposure to radio/cytotoxic agents for the treatment of unrelated diseases. Such malignancies present unique features, including advanced age, high comorbidities burden, and unfavorable genetic profiles. All these features justify the need for a specific diagnostic work-up and dedicated treatment algorithms. However, as new classification systems recognize the unique clinical characteristics exhibited by t-MN patients, how to assess fitness status in this clinical setting is largely unexplored. Optimizing fitness assessment would be crucial in the management of t-MN patients, considering that factors usually contributing to a worse or better outcome (like age, comorbidities, and treatment history) are patient-specific. In the absence of specific tools for fitness assessment in this peculiar category of AML, the aim of this review is to describe all those factors related to patient, treatment, and disease that allow planning treatments with an optimal risk/benefit ratio.