International Journal of Laboratory Hematology最新文献

{"title":"Current Diagnosis of Bleeding Disorders in Lower Income Countries","authors":"Deepak K. Mishra,&nbsp;Asish Rath,&nbsp;Mayur Parihar,&nbsp;Sushant S. Vinarkar,&nbsp;Anirban Kundu","doi":"10.1111/ijlh.14377","DOIUrl":"10.1111/ijlh.14377","url":null,"abstract":"<p>There have been considerable advances in diagnosing and treating bleeding disorders. But the scenario remains dismal in resource-constrained settings in low and lower-middle-income countries (LMICs). Seventy-five percent of the patients with inherited bleeding disorders do not get diagnosed in LMICs. In resource-constrained settings, infectious disease and malignancies take the major focus. Bleeding disorders do not get prioritised in LMICs, and this leads to underdiagnoses and suboptimal treatment. There are various challenges like financial status, inadequacy of health care infrastructure, lack of patient registry and lack of awareness across medical staff, general population and government stakeholders. The lack of skilled laboratory personnel and laboratory infrastructure for optimal bleeding disorder diagnosis adds on to the problem. World Federation of Hemophilia (WFH) has been at the forefront in developing strategies to overcome some of these inadequacies; however, more active participation of the stakeholders including patients, medical professionals and policy makers is the need of the hour. This review highlights the different challenges in LMICs in diagnosing bleeding disorders, the gap between high-income countries and LMICs and the possible strategies in closing the gap.</p>","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":"47 1","pages":"36-40"},"PeriodicalIF":2.2,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ijlh.14377","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142402502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognostic Evaluation of Hemoglobin, Albumin, Lymphocyte, and Platelet (HALP) Score and Hematological Indices in Classic Hodgkin Lymphoma","authors":"Pusem Patir,&nbsp;Kubra Cerci,&nbsp;Erdal Kurtoglu","doi":"10.1111/ijlh.14379","DOIUrl":"10.1111/ijlh.14379","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Hodgkin lymphoma (HL) constitutes 10% of all lymphoma diagnoses and accounts for 5% of lymphoma-related deaths. Accurate prognostication in HL remains crucial, particularly given that 10%–20% of patients may receive either insufficient or excessive treatment. This study investigates the effect of hemoglobin, albumin, lymphocyte, and platelet (HALP) score, which is a marker of inflammation status and nutrition, at the time of diagnosis for the patients with HL on prognosis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>A total of 147 patients diagnosed with cHL were included in the study, and their data were analyzed retrospectively. The significance of the HALP score and hematological indices [neutrophil-lymphocyte ratio (NLR), lymphocyte-monocyte ratio (LMR), and platelet-lymphocyte ratio (PLR)] as predictors of overall survival (OS) and disease-free survival (DFS) was evaluated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Patients were grouped according to median values for the HALP score and hematological indices. High HALP score (<i>p</i> = 0.034), low NLR (<i>p</i> = 0.033), high LMR (<i>p</i> = 0.003), and low PLR (<i>p</i> = 0.014) were statistically significant in the early-stage favorable group. DFS and OS were not statistically significant according to the HALP score NLR, LMR, and PLR groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The need for readily applicable, reliable prognostic markers in cHL, where immunotherapy treatments have led to significantly improved survival outcomes, remains persistent.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":"47 1","pages":"68-78"},"PeriodicalIF":2.2,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142396303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alpha Thalassemia Screening in Multiethnic Population in Northern Europe Using Hb Bart's Immunochromatographic Test","authors":"Nik Fatma Fairuz Nik Mohd Hasan,&nbsp;Sandra J. G. Arkesteijn,&nbsp;Jeanet ter Huurne,&nbsp;Maaike Verschuren,&nbsp;Sharda Bhagwandien-Bisoen,&nbsp;Rianne Schaap,&nbsp;Linda Vijfhuizen,&nbsp;Hakima el Idrissi,&nbsp;Tamara T. Koopmann,&nbsp;Cornelis L. Harteveld","doi":"10.1111/ijlh.14381","DOIUrl":"10.1111/ijlh.14381","url":null,"abstract":"","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":"47 2","pages":"326-329"},"PeriodicalIF":2.2,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142396300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigation of Hemorheological Parameters in Ischemic Stroke Patients","authors":"Gursan Gunes Uygun,&nbsp;Sena Ebru Caglar,&nbsp;Kemal Tutkavul,&nbsp;Esra Gurdal Kosem,&nbsp;Yunus Karakoc","doi":"10.1111/ijlh.14373","DOIUrl":"10.1111/ijlh.14373","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The aim of this study is to determine whether there are any changes in hemorheological parameters, including whole blood viscosity (WBV), plasma viscosity, erythrocyte aggregation, and erythrocyte deformability, in acute ischemic stroke patients, and to establish their relationship with stroke etiology. The study also aims to observe the changes in these parameters, if any, over time and after treatment, and to assess the correlation between risk factors for ischemic stroke and neuroimaging findings.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This was a prospective observational study including 70 patients diagnosed with acute ischemic stroke within the first 3 days of the onset of symptoms and 96 healthy controls. Stroke patients were categorized based on TOAST criteria, and hemorheological parameters were measured at admission and on the fifth day post-treatment. Erythrocyte aggregation and deformability were measured using a laser ektacytometer, and viscosity assessment was conducted with a rotational viscometer.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Stroke patients exhibited significant differences from the control group in aggregation amplitude, aggregation index, and aggregation half-time (<i>p</i> = 0.001, <i>p</i> = 0.013, <i>p</i> = 0.009, respectively) and showed elevated maximum value of elongation index (<i>p</i> = 0.000). No significant differences in WBV and plasma viscosity were observed between the groups. Post-treatment, the small vessel occlusion subgroup demonstrated a notable reduction in WBV. Additionally, homocysteine levels showed a positive correlation with scattered white matter lesions in basal ganglia and infratentorial regions (<i>p</i> = 0.002, <i>p</i> = 0.039, respectively).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Increased predisposition to erythrocyte aggregation may contribute to the occurrence of acute ischemic stroke. Moreover, gaining the ability of erythrocytes to deform and increase blood flow may serve as a compensatory mechanism in the chronic vascular disease process. The risk factors for ischemic stroke may exhibit connections to specific areas within the brain.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":"47 1","pages":"166-174"},"PeriodicalIF":2.2,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142396302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biological Reference Ranges for Healthy Indian Blood Donors: Experience of a Tertiary Care Center Vis-à-Vis International Literature","authors":"Shalini Goel,&nbsp;Aseem Kumar Tiwari,&nbsp;Pawan Kumar Gahlot,&nbsp;Manish Kumar Singh,&nbsp;Renu Saxena,&nbsp;Vaibhav Jadhav,&nbsp;Monisha Sethi,&nbsp;Tan Swee Jin","doi":"10.1111/ijlh.14375","DOIUrl":"10.1111/ijlh.14375","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Complete blood count is the most common, basic test requisitioned in hematology. The normal reference ranges of hematological parameters are required owing to variable socioeconomic, environmental, and genetic factors in populations. The current study determines the reference ranges of the healthy Indian donor population of a high socioeconomic group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The study was conducted in the Department of Transfusion Medicine at a tertiary care hospital in India and included 4098 individuals, aged 18–65 years coming for voluntary blood donation from July 2021 to October 2022. Blood samples were collected in K2EDTA, analyzed on the Sysmex XN-1500 hematology analyzer, and using statistical tools, the normal reference ranges were calculated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The reference ranges for hemoglobin (HB) (137–185 g/L), WBC (5.1–11.7 × 10⁹/L), platelet count (115.6–370.0 × 10⁹/L) were noted. [Correction added on 22 10 2024, after first online publication: The WBC value has been corrected in this version.] No statistically significant changes were observed in different age groups. There were gender-wise differences noted in nearly all parameters. The HB and hematocrit (HCT) range was slightly higher in other Indian and other Asian populations with comparable values with the Chinese, Korean populations, and Western populations; RBC parameters were overall comparable with minor differences; the WBC count was higher than the other Indian and Asian populations particularly the upper limit of lymphocyte and monocyte; and the range of platelet counts had a comparable upper limit with all populations and had the lowest lower value in males in our study, which was comparable to only the Chinese population.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>It is concluded that reference ranges of common parameters were calculated with minor changes noted in all hematological parameters on comparing with other Indian, Asian population, and Western data.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":"47 1","pages":"61-67"},"PeriodicalIF":2.2,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142373930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of Gene Expression Microarray for the Classification of Ph-Like B-Cell Acute Lymphoblastic Leukemia","authors":"Nonthaya Thangrua,&nbsp;Teerapong Siriboonpiputtana,&nbsp;Budsaba Rerkamnuaychoke,&nbsp;Takol Chareonsirisuthigul,&nbsp;Veerawat Korkiatsakul,&nbsp;Pongpak Pongphitcha,&nbsp;Ekchol Mukda,&nbsp;Somchai Chutipongtanate,&nbsp;Samart Pakakasama","doi":"10.1111/ijlh.14370","DOIUrl":"10.1111/ijlh.14370","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Ph-like ALL has gene expression profile similar to Ph-positive ALL but without the <i>BCR::ABL1</i> fusion. The disease presents higher rates of severe clinical features and is associated with unfavorable outcomes. There is still no standard pipeline for molecular characterization of the disease, and no valid predictor gene panel is available worldwide.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We performed expression microarray on 25 B-cell ALL and 6 Ph-positive B-cell ALL to cluster and identify the transcriptional signature of Ph-like ALL. qRT-PCR was used to confirm the expression of candidate genes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Four out of 25 samples (16%) shared gene expression signatures related to and clustered with control Ph-positive samples. Analysis of genes differentially expressed in Ph-like B-cell ALL and evidentially functional in normal blood cell development and leukemogenesis, we selected genes as potential biomarkers for Ph-like B-cell ALL in our dataset: <i>ADGRE2</i>, <i>CD9</i>, <i>EPHA7</i>, <i>FAM129C</i>, <i>TCL1A</i>, and <i>VPREB1</i>. Those genes were filtered by Ph-like gene signatures obtained from distinct reliable data, resulting in five genes, <i>CA6</i>, <i>CHN2</i>, <i>JAK1</i>, <i>JCHAIN</i>, and <i>PON2</i>, selected for validation by qRT-PCR. The Ct values of genes, including <i>CA6</i> (<i>p</i> = 0.0017), <i>PON2</i> (<i>p</i> = 0.0210), <i>TCL1A</i> (<i>p</i> = 0.0064), and <i>VPREB1</i> (<i>p</i> = 0.0338), were significant in Ph-like ALL. GSEA analysis identified <i>VPREB1</i> as enrichment in the KRAS signaling pathway, and several genes that interact with <i>VPREB1</i> were reported as critical molecules involved in the leukemogenesis of B-cell ALL.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>In summary, we demonstrate using a gene expression microarray for classifying Ph-like B-cell ALL and highlight <i>VPREB1</i> as a potential biomarker for this disease.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":"47 1","pages":"130-139"},"PeriodicalIF":2.2,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142367981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quality Assessment of Cryopreserved Peripheral Blood Stem Cell Products: Evaluation of Two Methods for Flow Cytometric Viability Testing","authors":"Vladimira Rimac,&nbsp;Ines Bojanić,&nbsp;Marijana Škifić,&nbsp;Sanja Dabelić,&nbsp;Branka Golubić Ćepulić","doi":"10.1111/ijlh.14374","DOIUrl":"10.1111/ijlh.14374","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>The standard flow cytometry method for viability testing using 7-aminoactinomycin D (7-AAD) determines cells in necrosis and late apoptosis. The colony-forming unit (CFU) assay, which evaluates the proliferation ability of HSCs, is also used in graft quality assessment despite known deficiencies that make this assay impractical in routine clinical settings. The aim was to compare the effectiveness of the flow cytometry 7-AAD/annexin V method with the 7-AAD method in assessing the quality of HSCs in autologous and allogeneic peripheral blood stem cell (PBSC) products.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Thirty autologous and 30 allogeneic fresh and thawed cryopreserved PBSC products were included in this study. The viability of HSCs was determined using the 7-AAD method and 7-AAD/annexin V method on a flow cytometer, while their clonogenic capacity was assessed by CFU assay.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>There was an excellent correlation for CD34+ cell viability between the 7-AAD and the 7-AAD/annexin V method for fresh samples (Rs = 0.930, <i>p</i> &lt; 0.001) and a good correlation for thawed PBSC samples (Rs = 0.739, <i>p</i> &lt; 0.001). Excellent correlation was observed for post-thaw CD34+ cell recovery between the two methods for viability (Rs = 0.980, <i>p</i> &lt; 0.001). Statistical analysis showed a weak correlation between CFU-GM recovery and CD34+ cell recovery, regardless of which viability testing method was used (7-AAD method <i>p</i> = 0.021, Rs = 0.298; 7-AAD/annexin V method <i>p</i> = 0.029, Rs = 0.282).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Results of this study showed that in the quality assessment of cryopreserved PBSC product viability, the 7-AAD/annexin V method had no added value compared to the 7-AAD method, which was suitable enough for routine quality control of cryopreserved autologous and allogeneic PBSC samples.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":"47 1","pages":"93-100"},"PeriodicalIF":2.2,"publicationDate":"2024-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142304868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Does the VWF:CB Assay Help to Diagnose von Willebrand Factor Deficiency in Patients With a Bleeding Disorder of Unknown Cause?","authors":"Marc Trossaërt,&nbsp;Fabienne Genre-Volot,&nbsp;Valérie Horvais,&nbsp;Catherine Ternisien,&nbsp;Pierre Boisseau,&nbsp;Marc Fouassier,&nbsp;Nicolas Drillaud,&nbsp;Benjamin Gillet,&nbsp;Morgane Péré,&nbsp;Antoine Babuty,&nbsp;Emmanuelle Jeanpierre,&nbsp;Emmanuel de Maistre","doi":"10.1111/ijlh.14371","DOIUrl":"10.1111/ijlh.14371","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>The entity entitled bleeding disorder of unknown cause (BDUC) qualifies individuals displaying a mild haemorrhagic profile but normal routine coagulation tests. This study was designed to evaluate whether collagen-binding assay for von Willebrand Factor (VWF) measurement (VWF:CB) could allow to diagnose VW disease in such patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A large screening was conducted prospectively in two University Hospitals, using the bleeding assessment tool (BAT) recommended by the International Society of Thrombosis and Hemostasis. Patients with an abnormal BAT were confirmed to have a normal complete hemostatic evaluation. A large range of VWF assays was then carried out on a new blood sample for the 68 individuals (91% women) thus identified. Of note, five VWF:CB using different types of collagen were performed, as well as a comprehensive sequencing of the <i>VWF</i> gene.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of this cohort, only 3 individuals (all blood group O), had a VWF:CB between 40 and 50 IU/dL. No unknown anomaly of the <i>VWF</i> gene was disclosed. Of note, 54% of these patients had unexplained abnormal occlusion times on PFA-200.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study identified 68 cases of BDUC, after screening of a large population, indicating a low incidence. Only 3 cases were potentially confirmed as displaying moderate von Willebrand disease. VWF:CB tests were globally normal in the 65 other patients of the cohort.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Trial Registration</h3>\u0000 \u0000 <p>ClinicalTrials.gov identifier: NCT0279220.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":"47 1","pages":"149-155"},"PeriodicalIF":2.2,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142304867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased Platelet Size and Elevated P2Y12 mRNA Expression Levels in Patients With Diabetes Mellitus","authors":"Masako Nishikawa,&nbsp;Yutaka Nagura,&nbsp;Hitoshi Okazaki,&nbsp;Makoto Kurano,&nbsp;Yutaka Yatomi","doi":"10.1111/ijlh.14372","DOIUrl":"10.1111/ijlh.14372","url":null,"abstract":"","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":"47 1","pages":"189-192"},"PeriodicalIF":2.2,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142260776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deep Learning-Based Blood Abnormalities Detection as a Tool for VEXAS Syndrome Screening","authors":"Cédric De Almeida Braga,&nbsp;Maxence Bauvais,&nbsp;Pierre Sujobert,&nbsp;Maël Heiblig,&nbsp;Maxime Jullien,&nbsp;Baptiste Le Calvez,&nbsp;Camille Richard,&nbsp;Valentin Le Roc'h,&nbsp;Emmanuelle Rault,&nbsp;Olivier Hérault,&nbsp;Pierre Peterlin,&nbsp;Alice Garnier,&nbsp;Patrice Chevallier,&nbsp;Simon Bouzy,&nbsp;Yannick Le Bris,&nbsp;Antoine Néel,&nbsp;Julie Graveleau,&nbsp;Olivier Kosmider,&nbsp;Perrine Paul-Gilloteaux,&nbsp;Nicolas Normand,&nbsp;Marion Eveillard","doi":"10.1111/ijlh.14368","DOIUrl":"10.1111/ijlh.14368","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>VEXAS is a syndrome described in 2020, caused by mutations of the <i>UBA1</i> gene, and displaying a large pleomorphic array of clinical and hematological features. Nevertheless, these criteria lack significance to discriminate VEXAS from other inflammatory conditions at the screening step. This work hence first focused on singling out dysplastic features indicative of the syndrome among peripheral blood (PB) polymorphonuclears (PMN). A deep learning algorithm is then proposed for automatic detection of these features.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A multicentric dataset, comprising 9514 annotated PMN images was gathered, including <i>UBA1</i> mutated VEXAS (<i>n</i> = 25), <i>UBA1</i> wildtype myelodysplastic (<i>n</i> = 14), and <i>UBA1</i> wildtype cytopenic patients (<i>n</i> = 25). Statistical analysis on a subset of patients was performed to screen for significant abnormalities. Detection of these features on PB was then automated with a convolutional neural network (CNN) for multilabel classification.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Significant differences were observed in the proportions of PMNs with pseudo-Pelger, nuclear spikes, vacuoles, and hypogranularity between patients with VEXAS and both cytopenic and myelodysplastic controls.</p>\u0000 \u0000 <p>Automatic detection of these abnormalities yielded AUCs in the range [0.85–0.97] and a F1-score of 0.70 on the test set. A VEXAS screening score was proposed, leveraging the model outputs and predicting the <i>UBA1</i> mutational status with 0.82 sensitivity and 0.71 specificity on the test patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study suggests that computer-assisted analysis of PB smears, focusing on suspected VEXAS cases, can provide valuable insights for determining which patients should undergo molecular testing. The presented deep learning approach can help hematologists direct their suspicions before initiating further analyses.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":"47 1","pages":"120-129"},"PeriodicalIF":2.2,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142260777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}