American journal of blood research最新文献

Objectives: Rosai-Dorfman-Destombes disease (RDD), often associated with autoimmune disease, is rare in the elderly. We report a 79-year-old Japanese man with RDD, who had been treated for non-specific interstitial pneumonia (NSIP) for longer than 6 years.

Methods: Detecting RDD lesions was evaluated with imaging studies, including PET-CT, and the RDD diagnosis was based on the pathological findings of a biopsied lymph node. Findings and Clinical course: PET-CT revealed an FDG-avid 5.5 cm-sized mass (SUVmax; 7.12) at the right lung and enlarged lymph nodes at the bilateral supra-clavicular area (SUVmax; 10.12). A supraclavicular lymph node biopsy confirmed the diagnosis of RDD; however, it was characterized by lymph node necrosis, which is rarely noted in the RDD tissue. Three months after the RDD diagnosis, the patient developed cold agglutinin disease (CAD), causing severe anemia, for which packed red blood cell transfusions and sutimlimab^® therapy were planned; however, the patient died of presumable NSIP exacerbation.

Conclusions: RDD occurs even in the elderly. RDD in this case was associated with autoimmune NSIP and CAD. The presence of necrotic foci in the biopsied lymph node does not contradict the diagnosis of RDD.

Objectives: Heart failure (HF) is a complex condition with a substantial global prevalence and clinical burden. Prognostic biomarkers are essential for effective management. This study systematically reviews and synthesizes the prognostic value of mean platelet volume (MPV) and platelet distribution width (PDW) in HF patients.

Methods: A comprehensive search was conducted in Medline, Scopus, Web of Science, and Embase databases. Eligible studies were identified, screened, and selected according to pre-defined criteria. Data extraction and quality assessment were performed by independent reviewers. Meta-analyses were conducted using random-effects models, and heterogeneity was assessed using I² statistics. Publication bias was assessed using Egger's regression and Begg's tests.

Results: From 12471 records, 21 studies were included. MPV showed significant predictive value, with pooled hazard ratios (HR) of 1.49 (0.67-3.32) and odds ratios (OR) of 1.71 (1.5-1.91) for mortality and morbidity. The pooled mean difference in MPV values between the affected and unaffected subjects was 0.66 (0.21-1.1, P=0.008). MPV was positively correlated with NT-proBNP levels (pooled coefficient: 0.13, P=0.028). The pooled area under the curve for MPV in prognosticating adverse outcomes was 0.75 (0.69-0.82). However, PDW did not show significant prognostic value (HR: 1.56, OR: 1.11).

Conclusions: MPV is a useful prognostic marker in HF, associated with increased mortality and morbidity. Prognostic significance of PDW remains unclear, requiring additional research. The application of MPV can improve risk stratification and management of HF, but further research with larger populations and diverse settings is essential to confirm these findings and establish clinical reference ranges.

Acute erythroid leukemia (AEL) is an extremely rare subtype of acute myeloid leukemia (AML), accounting for less than 1% of AML cases. It predominantly affects older adults and is characterized by a proliferation of erythroid precursors, typically constituting >80% of bone marrow components, with ≥30% being proerythroblasts and often associated with poor prognosis. We present the case of a 15-year-old female who developed de novo AEL, an unusual presentation in a pediatric patient. The patient presented with fever, increased vaginal bleeding, leukocytosis, severe anemia, and 87% erythroid cells in peripheral blood smear. Bone marrow analysis revealed 90% erythroid precursors, 60% of which were proerythroblasts. Immunophenotyping confirmed AEL, showing positive expression of CD71, CD235a, CD36, and negative myeloid markers. Next-generation sequencing identified mutations in ARID1A and ATM genes, without TP53 mutation. The patient was treated with AML induction therapy (7+3 regimen). This report highlights a rare case of de novo AEL in a pediatric patient, emphasizing its clinical presentation, the diagnostic challenges posed by its rare occurrence and overlapping features with other hematological disorders, and the critical role of a comprehensive diagnostic evaluation, including morphology, flow cytometry, and genetic studies, in achieving timely diagnosis and appropriate management. Further research is needed to understand the molecular landscape better and identify optimal therapeutic strategies for pediatric AEL.

Objective: Glucose 6-phosphate dehydrogenase (G6PD) activity of red blood cells (RBC) may be helpful as a prognostic factor and a probable predictive indicator of disease activity in children with acute lymphoblastic leukemia (ALL).

Materials and methods: This cross-sectional, case-control study was performed on almost 133 pediatric ALL cases from 2016 to 2020 in an oncology hospital. Patients with a history of blood transfusion within the last three months, acute hemolytic crisis, any other type of enzyme deficiency like pyruvate kinase and hexokinase, and chronic liver disease were excluded. The G6PD activity in RBC was measured using the spectrophotometric method. In addition, the G6PD activity was assessed in 133 normal individuals as a control group. According to the kit, the G6PD <1.5 IU/g of Hb level was recognized as severely deficient. The correlation of G6PD activity with disease activity and other parameters in ALL patients was determined using the Pearson correlation test. Data were measured by an independent t-test and a one-way ANOVA test.

Results: The mean G6PD activity of RBC in the control (n=133) and patient group (n=128) was 9.1±2.08 IU/g of Hb and 11.12±3.8 IU/g of Hb, P<0.001, respectively. There was a significant difference in the G6PD activity of RBC in patients' blastic and non-blastic phases, t (128) =-2.48, P=0.014.

Conclusion: The G6PD activity of RBC is higher in childhood ALL than in the control group. Moreover, the G6PD activity of RBC in the blastic phase of leukemia was higher than that of patients in remission.

We report a novel α-globin gene variant, hemoglobin (Hb) Móstoles, characterized by a single nucleotide substitution in the HBA2 gene [α2 58(E7) His > Arg; HBA2:c.176A>G], associated with a 3.7-kb deletion in the homologous chromosome. This variant was identified in a Moroccan family living in Spain. The proband, a four-year-old girl, presented with microcytosis and hypochromia. The abnormal Hb was maternally inherited and detected in two of the proband's four siblings, while the 3.7-kb deletion was paternally inherited. Hb analysis using high-performance liquid chromatography and capillary electrophoresis revealed an abnormal peak in the Hb S region, with a concentration of approximately 3%. Hematological parameter assessment of the four carriers demonstrated that, despite being a structural hemoglobinopathy, Hb Móstoles is associated with an alpha-thalassemia phenotype and may exacerbate clinical manifestations when coexisting with other HBA1 and HBA2 mutations.

Patients on tyrosine kinase inhibitor therapy for chronic myeloid leukemia are often found to have elevated creatinine kinase levels on routine bloodwork and are asymptomatic. Here we report 4 cases of significant acute symptomatic jumps in levels with associated rhabdomyolysis that resolved with drug cessation. Etiology of the acute jumps is not known and this finding does not appear to be related to any one specific tyrosine kinase inhibitor, as 4 different tyrosine kinases were involved.

Background: Sitosterolemia is a rare inherited condition caused by elevated levels of plant sterols in the plasma, characterized by mutations in ABCG5 and ABCG8 genes. A scarce occurrence in this condition are hematological abnormalities such as hemolytic anemia, stomatocytosis, and macrothrombocytopenia. We conducted a meta-analysis and systematic review to answer these questions regarding patients who have hemolytic anemia and ABCG8 mutation.

Methods: 13 reports were shortlisted for the final analysis (Observational studies-6, case series-4, case reports-3). Descriptive statistics were utilized to study the patient characteristics.

Results: From the 13 reports that we found in available literature, we identified 19 cases of ABCG8 mutation and anemia. From the random-effects proportions model, the chance of this event occurring among patients with sitosterolemia was 6.8% [0.068, 95% Confidence Interval (CI) 0.016-0.120, P=0.010] (I² 24.68%) (14/145). Thrombocytopenia and stomatocytosis were frequently reported. Splenomegaly and xanthomas were other common associations.

Conclusions: To the best of our knowledge, we provide the first report of the prevalence of anemia, specifically in patients with sitosterolemia caused by a mutation in the ABCG8 gene. At 6.8%, this is an extremely rare occurrence in an already infrequent disease.

Objectives: Recently, hematological parameters such as hemoglobin, white blood cell (WBC), mean platelet volume (MPV), and C-reactive protein (CRP) have received more attention as predictors of overweight/obesity among adolescents. We aimed to investigate the association between hemoglobin, WBC, MPV, and CRP and overweight/obesity among adolescents in two regions of Sudan: River Nile State in the north and Gadarif in the east.

Methods: A multicenter community - based cross-sectional study was conducted from September 2022 to October 2023. A questionnaire was used to collect sociodemographic data. Weight, height, hematological parameters, and CRP were measured using standard procedures. Multivariate multinomial analysis was performed.

Results: A total of 738 adolescents (male: 325 [44.0%], female: 413 [56.0%]) were recruited. The median (interquartile, [IQR]) age was 14.8 (13.1-16.3) years. Of the total, 492 (66.7%), 151 (20.5%), and 95 (12.9%) were normal, underweight, and overweight/obese, respectively. In multivariate multinomial analysis, increasing WBC and increasing hemoglobin have shown a progressive increase in the overweight/obese group (adjusted odds ratio [AOR] = 1.08, 95% confidence interval [CI] 1.01-1.16) and (AOR = 1.27, 95% CI 1.06-1.53), respectively. Compared with females, males were at higher risk of being underweight (AOR = 2.77, 95% 1.86-4.12).

Conclusion: This study indicates that the identified hematological predictors, specifically WBC and hemoglobin levels, can be helpful indicators for predicting overweight and obesity in adolescents in Sudan.

Introduction: Failure to thrive (FTT) refers to failure of expected weight gain, striking lack of well-being and inadequate physical growth in children. The causes vary with geographical and socio-economic factors. In developed countries, FTT is usually a symptom of an underlying disease, often a gastrointestinal or neurological disorder. However, in developing countries, FTT is often associated with inadequate caloric intake and malnutrition. Such children are at an increased risk of infections and infection-related mortality which may be related to altered immune responses. Rarely some Primary immunodeficiencies (PIDs) can manifest as FTT. Not much data regarding neutrophil functions in these children is available.

Objectives: The present study aimed to analyse the functional activity of neutrophils in children with FTT using a highly sensitive and specific flow cytometry-based assay.

Methods: 25 children with FTT (up to 5 years) and 25 healthy controls were assessed for haematological parameters and neutrophil oxidative burst activity by DHR Assay using Flow cytometry.

Results: Compared to controls, the cases had significantly lower haemoglobin, hematocrit, RBC count and MCHC but a higher eosinophil count (P<0.0001). On flow cytometry, the Neutrophil Oxidative Index (NOI) was significantly reduced in cases (P<0.0001). 1 of 25 cases (4%) showed no change in neutrophil fluorescence after stimulation, suggesting the presence of CGD, which was later confirmed with molecular assay revealing a CYBB mutation.

Conclusions: To conclude, children with FTT have a decreased Neutrophil Oxidative Burst, suggesting defective killing of pathogens by phagocytes. Also, the presence of CGD should be ruled out in such children.

Objectives: Chronic lymphocytic leukemia (CLL) is a hematologic malignancy characterized by the excessive production of lymphocytes in the bone marrow. One of the emerging therapeutic strategies for CLL is chimeric antigen receptor (CAR) T-cell therapy, wherein T-cells are genetically modified to recognize and target cancer cells more effectively. The present study aims to systematically compare the therapeutic impact of high-dose versus low-dose status of CAR T-cell therapy targeting CD19 (CART-19) in patients with relapsed or refractory CLL.

Methods: To identify relevant studies, a comprehensive literature search was conducted in PubMed, Scopus, and Web of Science databases up to April 2023. The primary outcome measures included treatment response rates, assessed as complete response (CR) and partial response (PR), and toxicity, as indicated by the incidence of cytokine release syndrome (CRS). Additionally, sensitivity and bias analyses were performed to evaluate the robustness of the findings.

Results: Four randomized controlled trials (RCTs) comprising 89 patients with relapsed or refractory CLL met the inclusion criteria. Comparison of treatment response rates between high-dose and low-dose CART-19 therapy demonstrated a significantly higher complete and partial response rate in the high-dose group (SMD [95% CI]: 1.02 [0.10, 1.94]; P<0.05). However, no significant association was observed between CTL019 dosage and the incidence of CRS (P>0.05).

Conclusion: This meta-analysis suggests that high-dose CART-19 is associated with improved response rates and survival outcomes in patients with CLL compared to low-dose therapy. However, due to variability in study results, further large-scale, well-designed trials are required to establish the optimal therapeutic dosing strategy for CART-19 therapy in CLL.