Expert Review of Hematology最新文献

Introduction: Iron overload is the main pathophysiological driver of organ damage in transfusion-dependent thalassemia (TDT). Magnetic resonance imaging (MRI) provides detailed insights into the distribution and severity of iron accumulation in the different organs.

Areas covered: This special report describes the impact of MRI on clinical and therapeutic management and short- and long-term outcomes in TDT patients. PubMed, Scopus, and Google Scholar databases were searched to identify the relevant studies published before November 2024.

Expert opinion: Cardiac and hepatic MRI are now well-established modalities, integrated into the clinical practice. They have become essential for tailoring iron chelation therapies to the specific patient's needs and for monitoring treatment efficacy. The improved control of cardiac iron burden has translated into reduced morbidity and mortality. The MRI accessibility remains limited in resource-limited settings and progress in this field relies on educating and training centers to ensure accurate execution and interpretation. The clinicopathological significance, prognostic value and reproducibility of pancreatic iron levels assessment have been established, charting a path toward its clinical use. There are limited data about renal, adrenal, and pituitary iron deposition, and more research is needed to fully establish the functional significance and to standardize and validate the MRI protocols.

Background: Anemia is a critical complication among hemodialysis patients, often leading to poor outcomes. This study aimed to assess anemia prevalence and identify predictors among hemodialysis patients at Felege Hiote Referral Hospital, Northwest Ethiopia, in 2022.

Research design and methods: A retrospective cohort study analyzed 410 hemodialysis patients from January 2018 to February 2022. Data was collected from medical records, entered using Epi-data Version 4.1, and analyzed with STATA Version 14. Kaplan-Meier survival curves assessed survival time, while Cox regression identified anemia predictors.

Results: Of 410 patients, 66 (16.1%) developed anemia, with an incidence rate of 7.9 per 100 person-years (95% CI: 3.1-13.5). Significant predictors included female sex (IRR: 1.5, p = 0.04), rural residence (IRR: 2.5, p = 0.01), low body mass index (IRR: 1.6, p = 0.02), and congestive heart failure (IRR: 6.9, p = 0.02).

Conclusions: Anemia prevalence among hemodialysis patients is high, with key predictors including gender, residence, body mass index, and comorbidities. Interventions targeting these factors, especially in rural areas, could reduce anemia incidence. Study limitations include single-center data, incomplete variables, and lack of causality.

Background: To compare platelet count (PC), mean platelet volume (MPV), and platelet distribution width (PDW) between women with preeclampsia (PE) and normotensive pregnant women, and evaluate their effectiveness as predictors of PE.

Research design and methods: This cross-sectional study at Nishtar Hospital, Multan, included 141 women: 74 normotensive and 67 preeclamptic. Data was collected using an automated hematology analyzer and analyzed with SPSS version 26 and ROC curves.

Results: Mean age was 27.45 ± 5.18 years for cases and 28.41 ± 5.28 years for controls (p = 0.280). Gestational age was lower in the preeclamptic group (31.97 ± 4.07 weeks) compared to controls (33.92 ± 3.30 weeks) (p = 0.002). Blood pressures were higher in preeclamptic women (p < 0.001). Platelet count was lower in preeclamptic women (183.42 ± 95.69) vs. controls (256.42 ± 77.98) (p < 0.001). MPV (10.98 ± 1.55 vs. 9.79 ± 1.59, p < 0.001) and PDW (16.82 ± 5.70vs. 14.20 ± 2.40, p < 0.001) were higher in preeclamptic women. ROC analysis showed PDW had an AUC of 0.73 and MPV an AUC of 0.71.

Conclusions: PDW and MPV are significantly altered in preeclamptic women and can aid in early detection, potentially enhancing management.

Introduction: This article discusses the current role of sports practice in people with hemophilia (PWH).

Areas covered: On 11 January 2025, a bibliographic search was carried out in PubMed using 'hemophilia sports' as keywords. A total of 411 articles were found, of which only 22 were finally analyzed because they were directly related to the title of this article (inclusion criterion). The remaining 389 were eliminated because they were not directly related to the title of the article (exclusion criterion). It was found that sports activity is essential for patients with severe hemophilia to maintain joints' range of motion, diminish joint bleeding, enhance muscle mass and strength, improve proprioception, muscular trophism and bone mineral density, and avert secondary joint degeneration. PWH with factor levels < 10% during sports had a bleeding risk of 41% versus 20% in those with higher factor levels (>10%).

Expert opinion: Prophylaxis therapy can permit patients with severe hemophilia to participate in vigorous activities or high-impact sports. Moreover, such activities or sports have a positive effect on patient's psychosocial health. Therefore, sports practice should be supported in people with severe hemophilia but patient counseling and tailoring prophylaxis therapy with clotting factors and non-replacement therapy is essential.

Introduction: The clinical management of the inherited bleeding disorder von Willebrand disease (VWD) focuses on normalizing circulating levels of von Willebrand factor (VWF) and factor VIII (FVIII) to prevent or control bleeding events. The heterogeneous nature of VWD, however, complicates effective disease management and development of universal treatment guidelines.

Areas covered: The current treatment modalities of VWD and their limitations are described and why this prompts the development of new treatment approaches. In particular, RNA-based therapeutics have gained significant interest because of their ability to reversibly alter gene expression with long-term efficacy. In the field of VWD, small-interfering RNAs (siRNAs) have been explored through various strategies to improve disease phenotypes. These different approaches are discussed as well as their potential impact on reshaping the future therapeutic landscape.

Expert opinion: Current treatments for VWD often require frequent intravenous administration of VWF concentrates or desmopressin, with only short-term benefits. Moreover, remaining circulating mutant VWF can cause detrimental effects. Allele-selective siRNA-based therapies could provide more reliable and long-term disease correction by specifically targeting mutant VWF. This approach could be applied to a large part of the population aligning with the growing emphasis on personalized treatment and patient-centered care in VWD management.

Introduction: Thrombotic thrombocytopenic purpura (TTP) is a rare but potentially life-threatening complication whose association with COVID-19 is controversial. Understanding this connection is essential due to its significant impact on patient outcomes, and timely diagnosis and intervention are critical in managing this condition effectively.

Areas covered: This paper presents a case of TTP triggered by COVID-19 infection in a 48-year-old female. Additionally, a comprehensive literature review was conducted using PubMed and Google Scholar databases, from inception through August 2024, to identify all published cases of COVID-19-associated TTP. The literature search focused on adult cases of TTP secondary to COVID-19 infection, highlighting the treatments used and patient outcomes.

Expert opinion: In this report, we highlight the importance of recognizing TTP as a possible complication of COVID-19. While the standard treatment for TTP - plasma exchange and corticosteroids - remains the primary approach, we note that COVID-19-related cases exhibit a high risk of early relapse, as seen in our patient. The literature review suggests that TTP triggered by COVID-19 may have unique characteristics, such as a persistent low ADAMTS13 activity and increased relapse rates. Larger studies are necessary to develop optimal treatment guidelines and understand whether the presence of COVID-19 alters the typical clinical course of TTP.

Background: The purpose of this study is to explore the common differentially expressed genes (DEGs) between multiple myeloma (MM) and osteoporosis and the associated molecular mechanisms.

Research design and methods: We obtained the overlapping DEGs between MM and osteoporosis with the GEO2R online tool. Then, the DEGs were clustered on the MetaCore website to identify the biological process and pathway. In addition, the STRING database and Cytoscape were used to construct the protein-protein interaction (PPI) network and identify hub genes. Finally, miRNA-gene and transcriptional factor (TF)-gene interaction networks were constructed.

Results: A total of 252 genes were identified as DEGs in the overlapping two datasets. Functional analysis emphasizes the crucial role of the cell cycle in these two diseases. 10 hub genes were identified using cytoHubba, including CCNA2, ASPM, MKI67, FN1, FEN1, STAT1, DEPDC1, ITGB8, DYNC2LI1, HBEGF. In addition, according to the miRNA-gene and TF-gene interaction networks, part of TFs (RELA, TP53), and miRNAs (miR-26b-5p, miR-192-5p) may be identified as key regulators in MM and osteoporosis at the same time.

Conclusions: The present study reveals the common pathogenesis of MM and osteoporosis. These shared pathways may provide new targets for further mechanistic studies of the pathogenesis and treatment of MM and osteoporosis.

Objective: Deep vein thrombosis (DVT) is a known complication of fractures. This study aimed to explore the genetic causal relationship between DVT and fracture sites.

Research design and methods: The exposures analyzed in this study included fracture of femur (FFE), fracture of lower leg, including ankle (FLLA), fracture of shoulder and upper arm (FSUA), fracture of forearm (FFO), fracture of rib, sternum and thoracic spine (FRSTS) and fracture of lumbar spine and pelvis (FLSP). DVT as the outcome. A two-sample Mendelian randomization (MR) approach was employed to investigate the genetic causal relationship, and a series of sensitivity analyses were conducted.

Results: The findings indicated no genetic causal relationship between FFE (p = 0.569, OR 95% CI = 1.001 [0.998-1.003]), FLLA (p = 0.371, OR 95% CI = 0.999 [0.995-1.002]), FSUA (p = 0.871, OR 95% CI = 1.000 [0.998-1.002]), FFO (p = 0.281, OR 95% CI = 1.001 [0.999-1.002]), FRSTS (p = 0.346, OR 95% CI = 0.999 [0.996-1.001]) or FLSP (p = 0.759, OR 95% CI = 1.000 [0.999-1.002]) and DVT. Sensitivity analyses reinforced the robustness.

Conclusions: This study indicate that no genetic causal relationship exists between DVT and fracture site, the observed association may be attributable to non-genetic factors.