Search Results (2,248)

Gene fusions involving NUTM1 have been increasingly recognized in hematologic malignancies, though their role in acute myeloid leukemia (AML) remains poorly understood. We retrospectively analyzed 565 unique AML patients with reported fusion results who underwent comprehensive next-generation sequencing (NGS) between March 2022 and December 2023. Among them, three novel in-frame NUTM1 fusion transcripts, LARP1::NUTM1, ARHGAP15::NUTM1, and GABPB1::NUTM1, were identified in three relapsed or refractory AML cases, all with monocytic differentiation. Ancillary studies included flow cytometry, cytogenetics, FISH, and comprehensive mutational profiling. All three patients eventually relapsed and succumbed to their disease, despite initial responses in one case. Each case also harbored co-occurring mutations associated with adverse prognosis, such as BCOR, ASXL1, and RUNX1. These findings suggest NUTM1 fusions in AML could represent a distinct molecular subset with potentially poor prognosis, warranting further functional and clinical investigation to clarify their biological and therapeutic significance. Full article

Background: Evans syndrome is a rare autoimmune disease characterized by immune thrombocytopenia (ITP), autoimmune hemolytic anemia (AIHA), and autoimmune neutropenia, typically triggered by an episode of immune dysregulation or multiple other factors. We present what appears to be the first reported case of Evans syndrome developing in a 66-year-old female following respiratory syncytial virus (RSV) vaccination. Case Presentation: A 66-year-old female presented with a petechial rash on her arms, legs, and face. Laboratory tests revealed a platelet count of 1 × 10⁹/L, significantly lower than her historical baseline of >200 × 10⁹/L. On hospital day 4, her hemoglobin declined from 14.3 g/dL to 9.9 g/dL, with laboratory evidence of hemolysis, including elevated bilirubin, low haptoglobin, and increased lactate dehydrogenase (LDH). Bone marrow biopsy revealed megakaryocytic hyperplasia consistent with ITP, along with a small polyclonal B-cell population lacking CD20 expression. Imaging was unremarkable, showing no interval changes aside from stable pre-existing pulmonary nodules and no lymphadenopathy. These findings supported a diagnosis of Evans syndrome. Initial therapy with dexamethasone and intravenous immunoglobulin (IVIG) for presumed ITP was ineffective. Due to refractory thrombocytopenia, the patient initially received one dose of rituximab, followed by one dose of romiplostim. Subsequently, the patient received rituximab infusions every week at a rate of 375 mg/m² for four doses, as well as prednisone at a dose of 1 mg/kg/day. Within five weeks, her blood count returned to normal. Conclusions: This case raises concern for a potential temporal association between RSV vaccination and the onset of Evans syndrome. It underscores the need for heightened clinical awareness and further investigation into immune-mediated hematologic complications following RSV immunization. Full article

Introduction: Both preeclampsia (PE) and prediabetes (PD) are known hypertensive disorders of pregnancy, and a correlation has been shown between these two diseases. A recent study in our laboratory has shown that pregestational PD is a risk factor for developing PE during pregnancy, as pregestational PD increased antiangiogenic factors. However, pregestational PD antiangiogenic release has not been shown to be associated with liver dysfunction. Therefore, this study seeks to investigate pregestational PD as a risk factor for hemolysis, elevated liver enzymes, and low platelet (HELLP) syndrome. Materials and Methods: Animals were divided into a normal pregnant group (ND), a preeclamptic pregnant group (PE), and a prediabetic pregnant group (PD). On gestational day (GND) 19, animals were sacrificed, and blood and liver tissues were collected to measure antioxidant protection and lipid peroxidation parameters, liver TGs, liver enzymes, TNF-α, IL-6, and hematology parameters. Results: The results showed significant increases in liver TGs, liver enzymes, TNF-α, IL-6, and hematology parameters in the PE and PD pregnant groups compared to the ND group. Conclusions: These findings suggest that pregestational PD predisposes patients to metabolic and inflammatory changes associated with HELLP syndrome. To our knowledge, this is the first study to demonstrate a link between pregestational PD and HELLP syndrome-related complications in a preclinical model, highlighting the importance of monitoring metabolic health before pregnancy. Full article

Aortic stenosis (AS), a progressive valvular disease that results in increasing left ventricular (LV) afterload, leads to ventricular dysfunction and heart failure if left untreated. Transcatheter aortic valve replacement (TAVR) has emerged as a minimally invasive and effective alternative to surgical replacement, especially in elderly or high-risk patients. Objectives: The present study aims to assess the influence of the tricuspid annular plane systolic excursion (TAPSE)/pulmonary systolic arterial pressure (PASP) ratio on clinical outcomes in patients with aortic stenosis undergoing TAVR and offer valuable insights into patient selection and tailored management strategies for individuals undergoing TAVR. Methods: A retrospective analysis was conducted on 100 patients with AS who underwent TAVR, included in two distinct groups based on their median TAPSE/PASP ratio. Results: Patients were divided according to their median TAPSE/PASP ratio into two groups. Those with lower TAPSE/PASP ratios had a higher incidence of post-procedural atrial fibrillation (AF) (48% vs. 28%, p = 0.0404), lower left-ventricular ejection fraction (LVEF) (41.06% vs. 49.50%, p < 0.0001), a more pronounced inflammatory and hematologic response, and longer hospitalization. Receiver-operating characteristic (ROC) analysis demonstrated modest but significant discrimination rather than high sensitivity or specificity for postprocedural arrhythmias, particularly atrial fibrillation. Conclusions: TAPSE/PASP should be regarded as a clinically useful risk-stratification marker in patients with AS undergoing TAVR, enabling the identification of high-risk patients and optimizing peri-procedural management. Full article

Background: Anal squamous cell carcinoma (ASCC) is a rare malignancy primarily treated with chemoradiotherapy (CRT). This study evaluated outcomes and the prognostic value of simple hematologic indices in patients receiving modern image-guided CRT. Methods: Fifty-five patients with non-metastatic ASCC treated between 2017 and 2025 were retrospectively analyzed. Survival was estimated by Kaplan–Meier methods, and prognostic factors were assessed by log-rank testing and Cox regression. Baseline neutrophil-to-lymphocyte (NLR) and platelet-to-lymphocyte (PLR) ratios were analyzed individually and in combination with nodal status. Results: At a median follow-up of 53.1 months, overall survival reached 90% at 5 years, whereas disease-free survival declined to 51%. Nodal positivity showed a non-significant trend toward poorer DFS. Baseline PLR ≥ 150 was significantly associated with inferior DFS in univariable analysis (HR 5.28, 95% CI 1.12–24.97, p = 0.036), while NLR ≥ 3 showed a borderline effect (p = 0.108). In multivariable models, PLR retained borderline prognostic relevance (p = 0.083), whereas Kaplan–Meier curves indicated non-significant trends (p = 0.129 and 0.055). Integrated models combining nodal status with PLR ± NLR improved risk discrimination: Model A (N + PLR ≥ 150 ± NLR ≥ 3) showed a trend (p = 0.059), and Model B (N + PLR ≥ 150) reached significance (p = 0.021; C-index ≈ 0.68–0.69). Conclusions: Modern CRT achieved excellent OS with acceptable toxicity, though early recurrences limited DFS. Integrating hematologic indices with nodal status provides a pragmatic, cost-effective approach for individualized risk assessment and follow-up in ASCC. Full article

Background/Objectives: Intracerebral hemorrhage (ICH) is primarily a disease of older adults, commonly linked to chronic hypertension and cerebral amyloid angiopathy. In young adults, however, ICH is rare and often driven by distinct structural, hematologic, or vascular causes. Methods: Using the National Inpatient Sample (2016–2022), we identified hospitalizations with a primary diagnosis of ICH (ICD-10-CM: I61.x). Patients younger than 18 years were excluded. Patients were stratified into 18–39 vs. ≥40 years. Comorbidities were defined using validated ICD-10 codes (E08–E13 for diabetes mellitus, I10–I15 for hypertension), excluding transient hyperglycemia (R73.x). Weighted analyses using NIS discharge weights compared demographics, comorbidities, rare etiologies, and outcomes, including in-hospital mortality, length of stay (LOS), and total hospital charges. Survey-weighted multivariable logistic regression identified independent predictors of mortality. Results: Among 76,264 ICH hospitalizations, 4012 (5.3%) occurred in patients < 40 years. Compared with older adults, younger patients had lower prevalence of hypertension (47.8% vs. 84.1%) and diabetes (10.2% vs. 60.4%) but higher rates of substance use (27.7% vs. 15.6%). Rare etiologies were more frequent, including arteriovenous malformation/aneurysm (14.0% vs. 3.6%), Moyamoya disease (1.4% vs. 0.2%), sickle cell disease (1.1% vs. 0.1%), and pregnancy-related ICH (0.05%). In-hospital mortality was lower among young adults (15.7% vs. 21.7%, p < 0.001), though LOS was longer (12.1 vs. 8.7 days, p < 0.001), and mean hospital charges were higher ($228,000 vs. $125,000, p < 0.001). Conclusions: Young-adult ICH is uncommon but etiologically distinct, often associated with vascular malformations, hemoglobinopathies, and substance use. Despite lower mortality, these patients experience longer and more resource-intensive hospitalizations, underscoring a substantial clinical and economic burden. Full article

Background: Disturbed iron metabolism has been described in chronic diseases with pro-inflammatory/immune activation. This study aimed to characterize iron status in patients with atopic dermatitis (AD) and to examine its relationship with disease severity and quality of life. Methods: We prospectively enrolled 86 adult patients with moderate-to-severe AD. Clinical assessments included the Eczema Area and Severity Index (EASI), SCORing Atopic Dermatitis (SCORAD), and the Dermatology Life Quality Index (DLQI). Blood samples were collected for hematologic parameters and iron-related biomarkers, including serum iron, ferritin, transferrin, transferrin saturation (Tsat), soluble transferrin receptor (sTfR), and hepcidin. Associations between iron markers and clinical outcomes were evaluated using beta regression models with variable selection and stability analyses. Results: Abnormalities in circulating iron biomarkers indicating iron deficiency were prevalent in patients with AD: 45% of patients had low Tsat (<20%), 37% low ferritin, and 26% reduced serum iron, despite largely normal hemoglobin. Patients with pro-inflammatory activation (as evidenced by elevated high-sensitivity C-reactive protein (hsCRP) above 5 mg/L) displayed a pattern characterized by lower iron, Tsat and higher sTfR levels. In multivariable analyses, lower serum iron remained associated with worse DLQI scores, while higher transferrin was associated with greater disease severity (EASI, SCORAD). Conclusions: Iron deficiency without anemia was a common feature of moderate-to-severe AD and was associated with higher clinical burden. Dysregulated systemic iron homeostasis was associated with impaired quality of life and increased disease severity. Full article

Background: Primary cervical spine infection is a rare but rapidly progressive disease that can cause early neurological damage, leading to increased morbidity and mortality. Despite its rising incidence, optimal treatment remains controversial. This study compared clinical, hematological, microbiological, and radiological outcomes among such patients treated with different methods. Methods: This retrospective comparative study is a secondary analysis of a previously reported cohort of 59 patients with primary cervical spine infection between 1992 and 2018 at a single institution. Patients were stratified into conservative (Group C, n = 14), surgery with instrumentation (Group S + I, n = 32), and surgery without instrumentation (Group S, n = 13) groups. Outcome measures included neurological status, antibiotic duration, hematological markers, radiological parameters (segmental angle, C2–C7 angle, segmental height, fusion rate), and complications. Results: The mean age and follow-up period were 61.4 years and 19.4 months, respectively. Group S + I demonstrated significantly better neurological outcomes at the last follow-up (p = 0.047) and shorter antibiotic treatment duration (p < 0.001). Radiological outcomes were superior in Group S + I, with greater improvements in segmental angle (p < 0.001), C2-C7 angle (p < 0.001), mean segmental height (p < 0.001), and fusion rate (84.4% vs. 14.3% and 46.2% in Group C and Group S, respectively; p < 0.001). Group S had significantly higher complication (46.2%, p = 0.011) and mortality (30.8%, p = 0.001). Hematological and microbiological results were not significantly different among groups. Conclusions: Surgical debridement with anterior instrumentation provided superior outcomes compared with conservative treatment or surgery without instrumentation. Early surgery with appropriate stabilization should be considered to optimize prognosis and minimize complications. Full article

A crucial role of genome instability and telomeric dysfunction was demonstrated in multiple cancers, including multiple myeloma (MM). MM accounts for approximately 10% of all hematologic malignancies and includes asymptomatic pre-malignant monoclonal gammopathy of undetermined significance (MGUS) and smoldering multiple myeloma (SMM). Due to the highly heterogeneous nature of the disease, there is an ongoing need for precise risk stratification and subsequent development of risk-adapted treatment strategies at every stage of disease and during disease progression. Telomere numbers, intensity, aggregates, and spatial arrangement within the nucleus were identified as prognostic biomarkers. Recent studies demonstrated that the three-dimensional (3D) analysis of key telomeric parameters is a reliable marker of the high risk of relapse in newly diagnosed MM (NDMM) patients and can predict the risk of progression of SMM patients. Telomeric parameters of malignant MM cells from the peripheral blood and bone marrow were similar, suggesting that 3D telomere profiling may assess MRD in liquid biopsies of MM patients. This review focuses on the prognostic value of 3D telomere profiling in MM. 3D spatial telomere analysis may potentially address a critical unmet clinical need in managing MM and, if incorporated into current guidelines, help to accurately predict disease status, progression risk, overall survival, and response to treatment. Full article

Objectives: To investigate the diagnostic and prognostic utility of systemic inflammatory biomarkers—including C-reactive protein (CRP), systemic immune-inflammation index (SII), and Fibrinogen—in patients with obstructive sleep apnea syndrome (OSAS), and to develop a machine learning-based stratification model for disease severity and treatment response. Study Design: Prospective observational cohort study. Setting: Single tertiary referral sleep and otolaryngology center. Methods: Adult OSAS patients (n = 195) diagnosed via polysomnography were treated with either CPAP or surgery and reassessed after ~4 months (16–20 weeks). Hematologic biomarkers were measured pre- and post-treatment. OSAS severity was staged using a composite polysomnography (PSG)-based index. Statistical analyses included mixed linear modeling, ROC analysis, unsupervised clustering, and machine learning (Random Forest) to evaluate biomarker utility. Results: CRP demonstrated the highest diagnostic accuracy for severe OSAS (AUC = 0.91, sensitivity = 88.2%, specificity = 85.7%). Fibrinogen showed the strongest correlation with disease severity (ρ = 0.81) and the largest post-treatment reduction (Cohen’s d = 1.41). SII also correlated with PSG stage and declined significantly after treatment. Machine learning confirmed CRP, SII, and Fibrinogen as top predictors of severity. Clustering analysis revealed three distinct inflammatory phenotypes of OSAS with differential biomarker responsiveness. Conclusions: CRP, SII, and fibrinogen may support risk stratification and follow-up in OSAS but require prospective validation before clinical use. These findings should be viewed as exploratory and hypothesis-generating. Larger multicenter studies with external validation are needed before these biomarkers or the machine-learning model are applied in routine practice. Full article

Background: Systemic inflammatory indices such as the neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) are associated with severe COVID-19, but their role in mild disease among frail older adults remains unclear. Early Israeli admission policies enabled hematologic profiling of asymptomatic and mild cases. Methods: Retrospective cohort of adults ≥65 years admitted to a geriatric center (March 2020–March 2021). Patients with Mild/asymptomatic COVID-19 cases were compared with patients hospitalized for other infections (pneumonia, urinary tract infection, cellulitis). Admission indices such as NLR, derived neutrophil-to-lymphocyte ratio (dNLR), PLR, hemoglobin-to-lymphocyte ratio (HLR), red cell distribution width (RDW), and C-reactive protein (CRP) were analyzed using receiver operating characteristic (ROC) curves. Sensitivity analyses compared COVID-19 with bacterial pneumonia and assessed one-week changes. Results: Among 450 patients (177 COVID-19 and 273 non-COVID; median age 85–86), COVID-19 cases showed lower white blood cell counts (WBC), neutrophils, and CRP but more marked lymphopenia. The most discriminative indices were dNLR, PLR, HLR, and RDW, which differed most (all p < 0.001), while NLR and systemic immune-inflammation index (SII) showed limited discrimination. The best AUC was 0.69. dNLR, PLR, and HLR remained elevated after one week. Conclusions: In frail older adults with early or mild COVID-19, modest but consistent hematologic patterns, including lymphopenia with elevated dNLR, PLR, and HLR, and lower RDW, were distinguished COVID-19 from other infections, although single-marker accuracy was limited. These routine indices may assist early differentiation when virologic testing is delayed or unavailable. Full article

Background/Objectives: Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is an established therapy for a range of hereditary disorders, including hemoglobinopathies, primary immunodeficiencies, and lysosomal storage diseases. Despite its long-standing use, rapid developments in donor availability, conditioning strategies, and supportive care have significantly broadened and refined its clinical application. This review combines recent evidence to clarify how these advances redefine current indications and therapeutic expectations. Methods: We critically analyze contemporary clinical data with a focus on elements that have undergone meaningful evolution—donor selection algorithms, conditioning intensity, graft manipulation, and post-transplant management. Comparative outcomes across major hereditary disease groups were examined to identify emerging trends in efficacy and safety. Results: The analysis highlights several novel shifts: expanding eligibility due to improved donor options, increasing reliance on reduced-toxicity regimens, and enhanced understanding of the mechanistic basis for hematologic, immunologic, and metabolic correction. These developments collectively improve survival and functional outcomes across diverse hereditary disorders. Conclusions: allo-HSCT remains a key therapeutic strategy for selected hereditary diseases, offering durable hematologic and metabolic correction. The prospective development of gene-addition and genome-editing therapies creates opportunities to complement—or in some cases replace—allo-HSCT, supporting the emergence of more personalized treatment approaches. Full article

Background/Objectives: Complete blood count (CBC)-derived markers such as the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and lymphocyte-to-monocyte ratio (LMR) have gained increasing attention as accessible indicators of systemic inflammation. These parameters, calculated from routine blood tests, are widely available in clinical settings and are potentially relevant for a variety of chronic diseases. This review aims to explore current evidence and highlight potential future directions regarding the use of hematologic inflammatory biomarkers in chronic disease. Methods: We performed an extensive literature search on PubMed to identify full-text original studies published in the past five years, focused on investigating the clinical applications of hematologic inflammatory markers in chronic conditions. Results: CBC-derived inflammatory markers have been studied in a wide range of chronic diseases, including autoimmune diseases, metabolic disorders, chronic kidney disease, chronic infections, psychiatric diseases, and other conditions. These markers have been evaluated for multiple clinical purposes, such as aiding diagnosis, monitoring disease status, assessing disease activity, disease subtype characterization, predicting prognosis, and evaluating associations with disease outcomes. Conclusions: As chronic diseases affect millions of individuals globally, placing a burden for the healthcare system, patients, and their families, simple and cost-efficient tools like CBC-derived inflammatory markers have the potential to improve clinical case management. Full article

Background/Objectives: The objective of this study was to analyze the clinical and laboratory features, management, outcomes, and complications of PRES in children with malignancies or following hematopoietic cell transplantation (HCT). Methods: This was a multicenter retrospective analysis of PRES episodes diagnosed between 2014 and 2022 in Polish pediatric hematology and oncology (PHO) centers and HCT units. The study included 438 patients treated for malignancy or post-HCT: 120 with PRES (study group) and 318 without PRES (control group). Results: PRES was diagnosed in children aged 1.7–16.5 years (median = 7.7 years). The most common underlying diagnosis was ALL (76.7%; n = 92). Symptoms of PRES included disturbances of consciousness (84.2%), seizures (80.0%), hypertension (74.2%), apathy (64.2%), abdominal pain (45.0%), visual disturbances (28.3%), and headaches (26.7%). Electrolyte abnormalities were observed in 75.0% of children, most commonly hyponatremia (49.2%) and hypokalemia (37.5%). Children with PRES were more likely to require admission to the intensive care unit (ICU) than controls (50.0% vs. 29.6%, p < 0.001). The most frequent long-term complications of PRES were hypertension (22.5%) and epilepsy (20.8%). Among PHO patients, those with PRES had significantly lower DFS (76.7% vs. 93.7%, p < 0.001) and OS (79.2% vs. 93.4%, p < 0.001). In the HCT group, PRES was also associated with lower DFS (40.0% vs. 83.3%, p = 0.012) and OS (40.0% vs. 77.8%, p = 0.047). Conclusions: PRES is a significant complication of oncological and transplant treatment in children. Its occurrence was associated with worse overall and disease-free survival. We proposed a predictive index for PRES, diagnostic criteria, and a revised name for this syndrome. Full article

Introduction: Hematological malignancies (HMs) represent a diverse spectrum of hematopoietic and lymphoid neoplasms involving the blood, bone marrow, and lymphatic organs. Better understanding of the burden of HMs in East Asia will allow for more targeted policy and public health efforts. Methods: Using the Global Burden of Diseases, Injuries, and Risk Factors Study 2021, we extracted 2021 and 1990–2021 trend estimates for total counts and age-standardized rates (per 100,000 person-years) for incidence, mortality, and disability-adjusted life years (DALYs) for leukemia and subtypes, multiple myeloma (MM), non-Hodgkin lymphoma (NHL), and Hodgkin lymphoma (HL) in East Asia (China, Japan, North Korea, Republic of Korea, Mongolia, and Taiwan). Results: In 2021, the burden of HMs globally and in East Asia was driven by China and Japan. China had the highest global HM burden with 238,051 new cases, 117,188 deaths, and 3.9 million DALYs. NHL and leukemia accounted for the majority of new cases, deaths, and DALYs in all countries. From 1990 to 2021, in most HMs and countries the age-standardized incidence rate (ASIR) increased, while the age-standardized mortality rate (ASMR) and age-standardized DALY rate (ASDALYR) decreased. The notable exception is the significant increase of MM ASIR, ASMR, and ASDALYR in Mongolia, Taiwan, and China, with increases in China by 200–300%. Conclusions: With the significant contribution to the global burden of HMs from China and Japan, diagnosis and treatment of HMs in these two countries should be a primary global health focus. The significant relative increase of MM ASIR, ASMR, and DALYs across many East Asia countries, especially in China, highlights MM as an important public health focus. Significant variations between the other East Asia countries also warrant further country- and disease-specific investigations. Full article