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This study aims to explore the application of BT50-based automatic quality control in the XN9000 hematology analyzer line, comparing its benefits and limitations with manual QC procedures, and to identify potential improvements, thereby providing a reference for the development of automated QC in clinical laboratories. Both manual and automatic QC procedures were performed for blood cell analysis. Manual QC data (January 1, 2024, to July 31, 2024) and automatic QC data (August 1, 2024, to February 28, 2025) were collected from the Department of Clinical Laboratory, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology. SPSS 18.0 software was used for the statistical analysis. The parameters analyzed included the coefficient of variation (CV), daily QC completion time, first sample review time, and staff workload. (1) Compared to manual QC, no statistically significant differences were observed in the CV values of any parameters between the two methods (Mann-Whitney U test, p > 0.05 for all). (2) The median completion time for automatic QC was 42 min earlier than that for manual QC, with automatic QC finishing at 07:48:47 (IQR: 07:47:55, 07:48:46) and manual QC finishing at 08:30:34 (IQR: 08:24:17, 08:37:32). (3) With a daily work start time of 08:00, the median first sample review time was advanced by 20 min under automatic QC, with manual QC reviewed at 08:48:00 (IQR: 08:36:00, 08:50:30) and automatic QC reviewed at 08:28:00 (IQR: 08:21:30, 09:07:30). (4) The automatic QC system significantly reduced the number of manual steps, including those for storage, rewarming, mixing, and post-analysis storage. Implementing the automatic QC system facilitates earlier report review, reduces workload, enhances operational efficiency, and maintains CV values within acceptable laboratory standards.
Quantification and monitoring of NPM1 mutations represent a key tool in the management of acute myeloid leukemia (AML), offering strong prognostic value and serving as a marker of minimal residual disease (MRD). Digital PCR (dPCR) provides absolute quantification with high sensitivity and specificity, offering advantages over conventional qPCR-based methods, particularly for rare or atypical NPM1 mutations. We adapted and evaluated a digital PCR strategy including both monoplex and multiplex assays targeting the most common NPM1 mutations (types A, B, D) as well as rare variants. A touch-down PCR protocol was optimized to harmonize the dPCR protocol and enhance specificity. Assay performance was evaluated in terms of limit of detection (LoD), limit of quantification (LoQ), linearity, and specificity, and compared to quantitative PCR (qPCR). The multiplex dPCR assay allowed detection of all clinically relevant NPM1 mutations with an LoD of 0.01%, while monoplex type A, B and D assays reached 0.001% for type A, B and D. The method showed strong linearity (R2 > 0.99 for all targets) and high concordance with qPCR (R2 = 0.9967). In patient samples, dPCR demonstrated improved sensitivity over qPCR, detecting low-level NPM1 mutations in samples previously negative by qPCR, and enabled early relapse detection. The approach enabled early relapse prediction in selected patients and improved molecular follow-up, even for rare NPM1 mutations not covered by standard qPCR panels. It simplifies laboratory routine and improves MRD assessment, according to current ELN guidelines and the growing need for personalized molecular monitoring in AML.
Cell population data (CPD) from the Sysmex XN-Series hematology analyzer have attracted attention as a new leukocyte biomarker in the field of infectious diseases. For CPD, we focused on the fluorescent light distribution of the neutrophil area (NE-WY) and recently reported that it is useful for the early diagnosis of bacteremia. In clinical practice, the rapid assessment of the effectiveness of antibiotic treatment is as important as the early recognition of bacteremia, but it is still unclear whether NE-WY is useful. We compared the time-dependent changes in NE-WY with parameters commonly used in 54 patients with bacteremia who responded well to initial antibiotic treatment. NE-WY peaked approximately 1 day earlier than C-reactive protein (CRP) and returned to baseline levels significantly earlier. Additionally, NE-WY fluctuated in a similar manner as white blood cells (WBCs) and neutrophils (Neut), but NE-WY had narrower error bars and tended to reach a plateau at the reference value more quickly. This is the first report to demonstrate that NE-WY is a highly useful biomarker not only for diagnosing bacteremia but also for assessing the therapeutic efficacy of antibiotics. NE-WY changes more rapidly over time than other biomarkers during the treatment of bacteremia. Thus, NE-WY has the potential to become a key biomarker in the field of infectious diseases.
Iron deficiency anemia (IDA) diagnosis in cirrhotic patients is challenging due to the confounding effects of inflammation and altered iron metabolism. Conventional markers, such as the iron profile, may be unreliable in this population. This study aimed to evaluate the diagnostic performance of reticulocyte hemoglobin content (CHr), percentage of microcytic red blood cells (%MicroR), and percentage of hypochromic red blood cells (%HypoR) for the diagnosis of IDA in cirrhotic patients. Four groups were included in this cross-sectional study: healthy controls, IDA non-cirrhotic, IDA cirrhotic, and non-IDA cirrhotic patients. Complete blood counts and reticulocyte indices were analyzed using a Sysmex XN- 1000 hematology analyzer, and receiver operating characteristic (ROC) curve analysis was performed to assess the diagnostic performance of the studied indices. CHr demonstrated the highest diagnostic performance, with an area under the curve (AUC) of 0.925 at a cut-off value of ≤ 25.7 pg. %MicroR also demonstrated strong discriminative ability (AUC = 0.906) at a cut-off of > 10.8%, whereas ferritin showed good diagnostic performance (AUC = 0.858) at a cut-off of ≤ 101 μg/L. CHr demonstrated excellent diagnostic performance and may serve as a valuable adjunctive marker for assessing iron status in cirrhotic patients, outperforming ferritin and other automated red blood cell indices. These findings support the potential role of reticulocyte indices as valuable tools for diagnosing IDA in cirrhosis, where conventional iron markers may be unreliable.
Bleeding disorder of unknown cause (BDUC) constitutes the largest group of patients presenting with a mild-to-moderate bleeding tendency in tertiary care settings. Their clinical bleeding phenotype is characterized by mucocutaneous bleeding, as well as bleeding following surgical challenges or childbirth, and is associated with impaired health-related quality of life. Iron deficiency, with or without anemia, is common, particularly among women, who comprise up to 80% of BDUC cohorts and frequently report heavy menstrual bleeding. Diagnosing BDUC requires a rigorous exclusion of established hemostatic and non-hemostatic causes of bleeding. Common inherited bleeding disorders, including coagulation factor deficiencies (CFD), von Willebrand disease (VWD), and platelet function disorders (PFD), must be systematically excluded. CFD evaluation should extend beyond routine assays (prothrombin time, activated thromboplastin time, thrombin time), as clinically relevant mild reductions in factors VIII, IX, and XI may occur despite normal screening tests; and factor XIII deficiency is not detected by global assays. VWD assessment mandates measurement of VWF antigen and activity, with additional studies to define subtype when indicated. For PFD, light transmission aggregometry remains the reference gold standard. Substantial diagnostic overlap exists among these entities and BDUC, and repeated testing is often required. Investigations for rare causes such as hyperfibrinolysis or excess natural anticoagulants are typically limited to patients with distinctive phenotypes or strong family histories. Although the pathogenesis of BDUC remains incompletely understood, continued investigation into platelet biology, global hemostasis, and vascular contributions holds promise for uncovering therapeutic targets, ultimately improving management for this prevalent yet understudied condition.
Fully automated thrombin generation (TG) assays facilitate the transition from research to clinical application. We conducted a multicenter inter-laboratory study using the ST Genesia analyzer to evaluate assay performance and establish reference intervals in healthy adults from Spain and Portugal. In this multicenter study, plasma samples from healthy adult volunteers were analyzed across 12 laboratories following a harmonized protocol. TG was measured using the STG-ThromboScreen reagent in the presence and absence of thrombomodulin (TM). Analytical performance and reference intervals were assessed. Within-run and intra-day precision were excellent (coefficient of variation < 10%) for all TG parameters except velocity index. Normalization reduced interlaboratory variability for amplitude-based parameters such as endogenous thrombin potential (ETP) and peak height, whereas its effect was less pronounced for velocity index. Satisfactory interlaboratory performance (|z| ≤ 2) was achieved in 96%-98% of results, and normalized parameters showed minimal bias across centers. In 252 healthy adults, median normalized values were: ETP 131% (IQR 118-142), peak height 116% (IQR 104-127), lag time 2.6 min (IQR 2.3-2.8), and time-to-peak 5.5 min (IQR 5.0-5.9). Median ETP inhibition in the presence of TM was 47.2% (IQR 35.1-61.8). Age had a modest influence on TG parameters, whereas sex differences were observed. This multicenter interlaboratory study in the Iberian Peninsula demonstrates high reproducibility of TG measurement using the ST Genesia platform with the STG-ThromboScreen reagent. These findings support its use for standardized TG assessment and provide reference intervals for clinical and research settings.
Unfractionated heparin (UFH) has long been an anticoagulant of choice. Despite the increasing use of low molecular weight heparin derivatives and more recently direct oral anticoagulants, UFH is still prescribed to prevent or treat thrombosis in specific populations at high risk of thrombosis or bleeding, including patients with severe renal impairment, critically ill patients, or those undergoing cardiac catheterization/surgery. Due to its narrow therapeutic index, with a risk of hemorrhage in case of overdosing and a risk of thrombosis in case of underdosing, monitoring its anticoagulant activity is considered standard of care even though scientific data remains limited. Despite being used for decades, some unanswered questions remain, particularly regarding the biological monitoring of its efficacy. Which assay can be used? In practice, the most widely used tests are plasma-based, such as the aPTT, a clotting assay, or the anti-Xa activity, a chromogenic substrate-based assay, whereas whole blood tests such as the ACT are limited to specific situation such as extracorporeal circulation. Which therapeutic ranges should be used? An aPTT prolongation of 1.5-2.5 × control, or an anti-Xa activity of 0.30-0.70 IU/mL, corresponding to 0.2-0.4 U/mL by protamine titration, ranges are commonly used, despite limited evidence-based data. Furthermore, these assays are not standardized due to some degree of heterogeneity in the sensitivity of reagents to UFH. Moreover, some pre-analytical questions remain, particularly regarding the collection tube to be used for example, citrate or CTAD anticoagulant solution, full- or partial-draw (half-filled) tubes, and the maximum time between collection and analysis.
Monoclonal B-cell lymphocytosis (MBL) is a type of chronic lymphocytic leukemia (CLL) and offers a unique window into the initial stages of leukemogenesis. Even though the vast majority of MBL patients are clinically stable, a subgroup develops CLL, which highlights the significance of understanding the molecular processes that modulate this development. Recent developments in molecular genetics have shown recurrent NOTCH1, SF3B1, TP53, and ATM mutations that determine clonal dynamics and the development of disease. In a like manner, the epigenetic dysregulation, where DNA methylation patterns and chromatin remodeling are aberrant, plays a role in lineage plasticity and altered outlines of gene expression during the transition phase between MBL and CLL. The significant role of non-coding RNAs (ncRNAs) in this development is intensively highlighted by growing evidence. MicroRNAs (miR-15a/16-1, miR-34a, and miR-155) and long non-coding RNAs (DLEU2, MALAT1, NEAT1) control apoptosis, DNA damage response and immune signaling, and transcriptional networks involved in leukemogenesis, respectively. The circular RNA is involved as a sponge in competing endogenous RNA interactions and enhances oncogenic signaling. Combining genetic, epigenetics, and ncRNA signatures provides an attractive chance to optimize risk stratification of MBL, forecast progression to CLL and establish minimally invasive biomarkers in liquid biopsy format. Though the application of ncRNA-targeted therapeutics is mostly experimental, initial translational research indicates that there are lines along which molecularly guided therapy can be pursued. This review provides a synthesis of the existing knowledge of the molecular evolution of MBL to CLL with a special focus on the interactions between DNA modifications, epigenetic control, and ncRNA biology and outlines how these findings can be used to provide more accurate diagnostics, prognostication, and subsequent targeted treatment.
Light microscopy is still the gold standard method for schistocyte counting in the blood smear. Some hematology analyzers can quantitatively determine fragmented red blood cells (FRC) as part of the full blood count. We examined the usefulness of two quantitative schistocyte methods on Sysmex XN-3100, comparing them with the standard reference method (SCHISTO-LM). FRC count was performed by fluorescent flow cytometry in the reticulocyte channel. A locally designed method was applied on DI-60 digital morphology analyzer (SCHISTO-DI), allowing schistocyte quantification according to ICSH recommendations, using the RBC menu. FRC ≥ 1.0% and schistocytes > 2/high-power field were considered positive. Measurements were performed in 91 blood samples/peripheral blood smears of 54 patients with a suspicion of thrombotic microangiopathy (TMA). Significantly higher FRC (p = 0.004), SCHISTO-DI (p < 0.001), and SCHISTO-LM (p < 0.001) were found in TMA-positive patients compared to TMA-negative and patients in remission. Stratification of TMA-positive patients by TMA type revealed no significant differences for all tests. Both positive SCHISTO-LM and SCHISTO-DI were recorded in 15/91 samples (sensitivity = 100%, 95% CI = 78.2-100.0 and negative predictive value (NPV) = 100%, 95% CI = 94.4-100.0). False-negative FRC results were detected in 5/15 schistocyte-positive samples (sensitivity = 66.7%, 95% CI = 38.4-88.2; NPV = 92.9%, 95% CI = 86.3-96.4). The highest agreement was revealed between SCHISTO-DI and SCHISTO-LM (κ = 0.637). SCHISTO-DI demonstrated the best AUC for discrimination between TMA-positive and TMA-negative patients (0.942; 95% CI = 0.843-0.987), and similar AUC (0.818; 95% CI = 0.700-0.905) as SCHISTO-LM (0.820; 95% CI = 0.702-0.906) for discrimination between TMA-positive and patients with TTP/aHUS in remission. Despite the slightly lower sensitivity of FRC, the newly designed SCHISTO-DI method demonstrated excellent sensitivity and NPV for schistocyte detection, concordant with SCHISTO-LM results.
The detection of Kappa (κ) and Lambda (λ) light chains is crucial for the diagnosis and management of diseases such as multiple myeloma. Abnormal secretion of κ and λ light chains can be assessed quantitatively or qualitatively using various methods. This study aimed to compare the outcomes of κ and λ light chains and their ratio (κ/λ) in different patients with and without monoclonal gammopathies, utilizing flow cytometry, serum free light chain assays, and gel immunofixation. This retrospective study included data from 92 patients, both with and without monoclonal gammopathy. Patients were categorized into two groups based on serum protein electrophoresis and immunofixation: those with positive monoclonal bands (n = 77) and those without (n = 15). Simultaneous assessments of bone marrow plasma cells were conducted using flow cytometry, along with serum free κ and λ light chain assays. After natural logarithm transformation, the serum κ/λ ratio was compared to the flow cytometry results for plasma cells. The κ/λ ratios showed a stronger association between serum free light chains and abnormal plasma cells (r = 0.84, p < 0.001) compared to normal plasma cells (r = 0.32, p < 0.05). Additionally, chi-squared analysis indicated a significant association for detecting free light chains for flow cytometry in comparison to serum immunofixation technique (p < 0.001) with sensitivity and specificity of 94.2% and 47.6% respectively. Free light chain immunophenotyping using flow cytometry can serve as a complementary technique for identifying the type and quantity of positive free light chains in conjunction with immunofixation and serum free light chain assays.
Platelets are anucleate cells that can be studied by benchtop flow cytometers and today there are several types of flow cytometric assays for platelets. Platelet structure studies in clinical flow cytometry mostly target rare congenital platelet glycoprotein deficiencies (e.g., Glanzmann-thrombasthenia, and Bernard-Soulier syndrome) that can be considered as the prototypes for platelet flow analysis, since the identification of complete or partial deficiency of these molecules provides the proper diagnosis. Another area of platelet flow cytometry is the detection of activated platelets. Mostly it means the gold standard platelet P-selectin assay or the investigation of PAC-1 binding-an assay where the activation dependent epitope of the GPIIb/IIIa receptor is investigated-but the measurement of platelet-leukocyte aggregates and microparticle analysis have gained increasing role. A unique platelet subtype is the subgroup designated as coated platelets that are formed by the simultaneous activation with collagen and thrombin. In clinical practice further functional assays are also informative tests: the monitoring of clopidogrel resistance by measuring the intracellular phosphorylated VASP and identifying heparin induced thrombocytopenia (HIT) by the use of patient plasma. The flow cytometric HIT test utilize the detection of phosphatidylserine expression on normal platelets or the formation of microparticles in the presence of the patient's plasma and therapeutic concentration of heparin, thus it seems reasonable to suggest it for the study of the functionality of the HIT antibodies. Nevertheless, there are also limitations to these assays as several of them require fresh samples, thus sample transport to specialized laboratories is not always feasible.
This study aimed to characterize peripheral blood microRNA (miR)-126 expression and evaluate its prognostic significance in patients with acute myeloid leukemia (AML). AML patients (n = 78) and healthy volunteers (n = 81) were enrolled in this retrospective study as the AML and Control groups. Clinical data were collected, and peripheral blood miR-126 expression was measured by RT-qPCR. Receiver operating characteristic (ROC) curves assessed the prognostic value of miR-126. Kaplan-Meier analysis compared survival outcomes between patients with high and low miR-126 expression. Univariate and multivariate Cox regression analyses were conducted to determine whether miR-126 was an independent risk factor for overall survival (OS) and progression-free survival (PFS). Peripheral blood miR-126 expression was significantly higher in the AML group than in controls [1.30 (0.51-2.30) vs. 0.42 (0.30-0.62)]. The area under the ROC curve (AUC) of miR-126 to distinguish AML patients from healthy controls was 0.815, with 62.82% sensitivity and 93.83% specificity at a cutoff value of 0.86. Patients with high miR-126 expression had higher proportions of extramedullary infiltration and high-risk European LeukemiaNet classification and significantly shorter OS and PFS. The AUC of miR-126 for predicting poor prognosis was 0.796, with 73.20% sensitivity and 75.70% specificity at a cutoff value of 1.297. After adjustment, miR-126 was confirmed as an independent predictor of reduced OS and PFS. Elevated peripheral blood miR-126 expression is associated with reduced OS and PFS of patients with AML and may serve as a useful biomarker for prognostic assessment.
Thrombotic thrombocytopenic purpura (TTP) is a rare but life-threatening thrombotic microangiopathy resulting from severe ADAMTS13 deficiency. Although effective treatments, such as therapeutic plasma exchange, immunosuppressive therapy with rituximab, and caplacizumab, have significantly improved survival, important challenges remain. These include limited diagnostic capacity, barriers to the early use of novel therapies, and long-term complications. In Korea, additional difficulties persist due to the restricted availability of ADAMTS13 antibody testing, reimbursement limitations for rituximab, and the absence of caplacizumab in clinical practice. To address these issues, the Korean Society of Hematology Thrombosis and Hemostasis Working Party convened an expert panel to develop consensus recommendations for the diagnosis and management of TTP. The panel reviewed current international guidelines, pivotal clinical studies, and real-world experiences and adapted them to the Korean clinical setting. This consensus statement provides updated recommendations for diagnostic approaches, initial and adjunctive therapies, management of refractory disease, ADAMTS13 monitoring, and long-term follow-up. By integrating international evidence with local circumstances, this document aims to provide Korean clinicians with practical, upto-date guidance to enhance the routine care of patients with TTP.
Measurable residual disease (MRD) is a key prognostic marker for patient survival. This study evaluated concordance between 10-color flow cytometry and next-generation sequencing (NGS)-based immunoglobulin heavy chain (IGH) gene assays for MRD detection and to assess prognostic significance in adult B-cell acute lymphoblastic leukemia (B-ALL). This multicenter prospective study enrolled 51 patients with newly diagnosed B-ALL. Bone marrow samples were obtained at diagnosis, post-induction (1 month), and post-early consolidation (3 months). Flow cytometry and NGS-IGH were performed at three timepoints to assess MRD B-ALL. Patients were classified as high risk according to white blood cell count and cytogenetic features in 37.3% and 64.7% of patients, respectively. Treatment protocols included pediatric-inspired regimens (41.2%), adult-ALL protocols (52.9%), and low-intensity chemotherapy. All 16 Philadelphia chromosome-positive patients received tyrosine kinase inhibitors. Twenty patients underwent allogeneic hematopoietic cell transplantation (HCT) in first complete remission (CR). Median relapse-free survival (RFS) and overall survival were 19 and 39 months, respectively. MRD negativity at 3 months by either method correlated with significantly superior RFS. Allogeneic HCT also conferred RFS benefit. MRD positive patients without HCT had the worst RFS. Flow cytometry MRD positivity at 3 months independently predicted inferior RFS (HR 3.81; 95% CI 1.01-14.43). The overall concordance between flow cytometry and NGS was 80.7%. MRD positivity at 3 months post-treatment strongly predicted relapse, supporting its use to guide therapeutic modifications of B-ALL. Apart from NGS-based IGH clonality assays, 10-color flow cytometry offers an alternative in resource-limited settings.
Hematological disorders, critical for diagnosis, and monitoring, rely on accurate complete blood count results from automated analyzers, the reliability of which depends on robust quality control (QC). However, the ability of commutability of commercial hematology QC materials (HQCM) to behave like patient samples across different systems, and the impact of analytical modes on results are not fully characterized. This study aimed to evaluate the analytical performance and commutability of two HQCM brands (Bioyuan and XC) across two hematology analyzers (Sysmex XN-1000 and Mindray BC-6800 Plus). We systematically compared results between QC and sample measurement modes, between manual and autoloader sampling modes, and assessed commutability using clinical samples as a reference. The differences between QC and sample modes were analyzer and parameter specific, with WBC, HCT, and MCV most affected on the Sysmex system. Manual versus autoloader sampling on the Mindray analyzer introduced significant differences for most parameters across concentrations. Commutability assessment revealed that neither HQCM was universally commutable for all four directly measured parameters (WBC, RBC, HGB, PLT); noncommutability was frequent, particularly, at extreme concentrations, indicating significant matrix effects. This study highlights that analytical (sampling mode and measurement mode) variables, along with material-dependent matrix effects, can substantially influence QC results and their interpretation. Laboratories must standardize protocols and critically select QC materials to ensure reliable hematology testing and effective quality assurance. Future work should focus on developing more commutable reference materials and validating these findings in multicenter clinical settings.
Tyrosine kinase inhibitors (TKIs) have transformed the treatment of chronic myeloid leukemia (CML); yet, diverse molecular responses and resistance persist. BCR::ABL1 kinase-domain (TKD) mutations constitute just a fraction of this resistance, and the impact of additional somatic mutations on disease progression and early molecular response remains incompletely defined. This single-centre cohort study analyzed 109 NGS-tested patients with CML, comprising 44 with TKI-resistant disease and 65 newly diagnosed patients. Targeted next-generation sequencing using a 135-gene myeloid panel was performed on 109 patients. An additional pilot subgroup of 30 TKI-resistant patients underwent BCR::ABL1 kinase-domain analysis by PCR/Sanger sequencing and was analyzed separately. Molecular response was assessed using BCR::ABL1 transcript levels on the International Scale and interpreted according to ELN 2020 recommendations. Somatic mutations were identified in 52.3% of TKI-resistant and 29.2% of newly diagnosed patients. All Cohort 1 blast-crisis patients were mutation-positive, and several concurrent abnormalities were more common in Cohort 1 than in Cohort 2, indicating clonal complexity. In Cohort 2, MMR was achieved in 28/39 (71.8%) mutation-negative and 6/13 (46.2%) mutation-positive patients. Mutation-positivity at baseline was associated with reduced MMR chances but not statistically significant (odds ratio 0.34; 95% confidence interval 0.09-1.23; p = 0.099). ASXL1 emerged as the most common non-ABL1 mutation but was not statistically significant. In this Indian CML cohort, somatic mutations were prevalent in TKI-resistant disease, linked to advanced phase and clonal complexity, and demonstrated a non-significant trend toward lower early MMR at diagnosis, highlighting the importance of genomic testing in this context.
Multiple myeloma (MM) is a heterogeneous plasma cell (PC) malignancy in both clinical presentation and genetic profile. Cytogenetic characterization, particularly by interphase fluorescence in situ hybridization (FISH), is critical for risk stratification and treatment decisions. FISH results depend on the PC infiltration rate in bone marrow (BM); therefore, CD138-positive immunoselection is required to overcome reduced FISH sensitivity due to low infiltration. We evaluated the performance of automated PC immunoselection compared to the manual method. We retrospectively analyzed data from 715 BM samples sent for routine FISH testing between 2019 and 2024. PCs were isolated manually (n = 351) or automatically (n = 364). BM infiltration was assessed by flow cytometry (FC) and/or cytomorphology. FISH analysis was performed using a primary panel with three DNA probes or an expanded panel with additional probes. Confirmed diagnoses were obtained from clinical records. FISH was successfully performed in 81% of samples, with automated processing achieving a higher success rate (86% vs. 75%, p < 0.001). Automated processing provided higher PC yields, enabling testing with expanded probe sets. Chromosomal abnormalities were detected in more than 90% of confirmed MM cases, regardless of isolation method. PC infiltration strongly predicted FISH success, with infiltration of ≥ 3% corresponding to an 80% probability of successful FISH. Automated immunoselection improves PC yield, enabling broader FISH testing compared to manual processing. Information on PC infiltration obtained by cytomorphology or FC, which indicates sample quality, can support quality assessment in the cytogenetics laboratory.
Moderate-to-severe thrombocytopenia (platelet count < 100 × 109/L) occurs in fewer than 1% of pregnancies, posing management challenges, particularly surrounding eligibility for neuraxial anesthesia. Although recent anesthesia guidelines recommend a platelet threshold ≥ 70 × 109/L, outcomes data applying these recommendations in moderate-to-severe thrombocytopenia remain limited. We conducted a retrospective study of 306 pregnancy encounters at a tertiary U.S. center (January 2018-December 2022) with ≥ 1 documented platelet count < 100 × 109/L. Etiology, platelet nadir, hematology consultation, treatment patterns, and neuraxial anesthesia (NA) use were assessed from antepartum through postpartum discharge. Gestational thrombocytopenia (gTCP) was the most common etiology (29%, n = 92). Thrombocytopenia severity differed across etiology, with higher platelet nadirs in gTCP (mean 84, median 88.5 × 109/L) compared with ITP (mean 62, median 66 × 109/L). Overall, 15% of pregnancies received hematology consultation, the majority of which were for individuals with ITP, and 78% underwent NA. Among pregnancies complicated by ITP, 71% received NA. Hematology consultation in ITP was associated with lower platelet nadirs and higher treatment rates. In this cohort of moderate-to-severe thrombocytopenia, institutional adherence to guideline-recommended platelet thresholds was high and associated with excellent neuraxial safety outcomes. These findings provide real-world support for current anesthesia recommendations in a higher-risk obstetric population.
Hypobaric hypoxia at higher residential altitudes may modify routine laboratory parameters and complicate their interpretation in emergency care. We examined associations between altitude (0-2500 m) and laboratory findings and developed a hemoglobin estimation model. This single-center, retrospective cross-sectional study included 2302 patients aged ≥ 1 year admitted to the Emergency Department of Kars Harakani State Hospital on January 1-3 and July 1-3, 2024. Patients were categorized as children (1-17 years) or adults (≥ 18 years). Hematological and biochemical results were retrieved from electronic records. Altitude-laboratory associations were analyzed using correlation and linear regression. A multivariable regression model was constructed to identify determinants of hemoglobin variation. Among 2302 admissions, 30.8% were pediatric. Hemoglobin, hematocrit, erythrocyte indices, pO2, and SaO2 demonstrated the most consistent altitude-related patterns. In adults, altitude showed positive associations with glucose, urea, creatinine, COHb, MetHb, calcium, ALT, AST, bilirubin, and selected erythrocyte and platelet indices, and negative associations with SaO2, pO2, PLT, PCT, GFR, and HCO3 (all p < 0.05). Most parameters were not significantly associated with altitude in children. SaO2 and pO2 were lower in summer than winter (p < 0.05). The final model explained 83% of hemoglobin variability, incorporating altitude, age, sex, smoking, pregnancy, malignancy, and chronic disease. Residential altitude was associated with measurable variation in hematological, biochemical, and oxygenation parameters among emergency department patients. Altitude should be considered when interpreting laboratory results in clinical practice. The proposed hemoglobin model integrates altitude and clinical variables to characterize hemoglobin variability within this cohort.