Blood Cells Molecules and Diseases最新文献

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Impact of maternal iron deficiency anemia on fetal iron status and placental iron transporters in human pregnancy 孕妇缺铁性贫血对胎儿铁状态和胎盘铁转运蛋白的影响
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-03-01 DOI: 10.1016/j.bcmd.2023.102727
Sreenithi Santhakumar , Rekha Athiyarath , Anne George Cherian , Vinod Joseph Abraham , Biju George , Paweł Lipiński , Eunice Sindhuvi Edison
{"title":"Impact of maternal iron deficiency anemia on fetal iron status and placental iron transporters in human pregnancy","authors":"Sreenithi Santhakumar ,&nbsp;Rekha Athiyarath ,&nbsp;Anne George Cherian ,&nbsp;Vinod Joseph Abraham ,&nbsp;Biju George ,&nbsp;Paweł Lipiński ,&nbsp;Eunice Sindhuvi Edison","doi":"10.1016/j.bcmd.2023.102727","DOIUrl":"10.1016/j.bcmd.2023.102727","url":null,"abstract":"<div><p><span><span>Iron deficiency anemia is associated with </span>maternal morbidity and poor pregnancy outcomes. Heme and non-heme iron </span>transport proteins<span><span><span><span> expressed in the placenta help in adequate iron supply from anemic mother to fetus. Here we examined the expression of placental iron trafficking molecules and their association with maternal and neonatal iron status in pregnant women with </span>iron deficiency<span> anemia (IDA). Pregnant women who received prenatal care at Christian Medical College, Vellore, India for childbirth were recruited. Pregnant women who were 18–35 years old with gestational age (GA) of ≥36 weeks were eligible to participate in the study. In a prospective cohort of pregnant women, 22 % were iron deficiency anemia and 42 % were iron replete. Samples were collected (Maternal blood, placental tissue, and cord blood) from pregnant women with a gestational age of ≥38 weeks at the time of delivery. The mean gestational age at the first visit and delivery was 12.8 ± 2.72 weeks and 39 ± 1.65 weeks, respectively. Hemoglobin (9.3 ± 0.9 g/dl) and </span></span>ferritin<span><span> (15.4(0.8–28.3) ng/ml) levels at delivery were significantly decreased in IDA as compared to controls. The fetal hemoglobin<span> and ferritin levels were in the normal range in both groups. There was no correlation between maternal and cord blood hepcidin with fetal iron status in IDA. We further analyzed the expression of iron transport genes in the placenta of controls and the IDA group. Under maternal iron insufficiency, the expression of placental iron transporters </span></span>DMT1, FPN1, and </span></span>GDF15<span> was upregulated at the protein level. In IDA, placental GDF15 and ferroportin protein had an association with fetal iron status. These findings confirm that placental iron traffickers respond to maternal iron deficiency by increasing their expression and allowing sufficient iron to pass to the fetus.</span></span></p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9711764","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}
引用次数: 2
Neoplastic bone marrow invasion:rapid exclusion of hematological disease by flow cytometric routine panels 肿瘤骨髓侵袭:流式细胞术常规面板快速排除血液病
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-03-01 DOI: 10.1016/j.bcmd.2022.102721
Maria Laura Bisegna , Iole Cordone , Nadia Peragine , Maria Laura Milani , Stefania Intoppa , Paolo de Fabritiis , Maurizio Martelli , Maria Stefania De Propris
{"title":"Neoplastic bone marrow invasion:rapid exclusion of hematological disease by flow cytometric routine panels","authors":"Maria Laura Bisegna ,&nbsp;Iole Cordone ,&nbsp;Nadia Peragine ,&nbsp;Maria Laura Milani ,&nbsp;Stefania Intoppa ,&nbsp;Paolo de Fabritiis ,&nbsp;Maurizio Martelli ,&nbsp;Maria Stefania De Propris","doi":"10.1016/j.bcmd.2022.102721","DOIUrl":"10.1016/j.bcmd.2022.102721","url":null,"abstract":"<div><p><span><span><span>Multiparametric flow cytometry is an extensively used technique to assess the presence of different cellular populations in immunology and </span>hematology. During routine </span>immunophenotyping analysis, it is not uncommon to face cells of non-hemopoietic origin, negative for CD45 and other myeloid, megakaryocytic, B and T </span>lineage<span><span> antigens and positive for at least one antibody among CD56, CD117 and CD138. If </span>cytology<span> cannot identify cell origin, especially in cases of unclear interpretation, the contribution of multiparametric flow cytometry analysis can be crucial. We report 6 patients with a clinical suspicion of hematological disease in which multiparametric flow cytometry was extremely useful to quickly exclude blood disorders in order to initiate patients to the most appropriate diagnostic process.</span></span></p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10735646","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}
引用次数: 0
Immunological profile in a pediatric population of patients with spherocytosis. A single-center experience 球形细胞增多症患儿的免疫学特征。单中心体验
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-01-01 DOI: 10.1016/j.bcmd.2022.102700
Silvio Marchesani , Letizia Sabatini , Valentina Bertaina , Olivia Marini , Michela Ambrosi , Margherita Di Mauro , Matilde Cossutta , Livia Schettini , Mariachiara Lodi , Gioacchino Andrea Rotulo , Paolo Palma , Giuseppe Palumbo , Giulia Ceglie
{"title":"Immunological profile in a pediatric population of patients with spherocytosis. A single-center experience","authors":"Silvio Marchesani ,&nbsp;Letizia Sabatini ,&nbsp;Valentina Bertaina ,&nbsp;Olivia Marini ,&nbsp;Michela Ambrosi ,&nbsp;Margherita Di Mauro ,&nbsp;Matilde Cossutta ,&nbsp;Livia Schettini ,&nbsp;Mariachiara Lodi ,&nbsp;Gioacchino Andrea Rotulo ,&nbsp;Paolo Palma ,&nbsp;Giuseppe Palumbo ,&nbsp;Giulia Ceglie","doi":"10.1016/j.bcmd.2022.102700","DOIUrl":"10.1016/j.bcmd.2022.102700","url":null,"abstract":"<div><p><span><span><span>Spherocytosis is a hereditary disease caused by the deficiencies of different </span>membrane proteins of </span>red blood cells<span>. Currently, splenectomy is the main therapeutic strategy available, although it is accompanied by an increased risk of sepsis. Several evidences have supported the hypothesis of spleen dysfunction </span></span>in patients<span><span> with spherocytosis that haven't yet undergone splenectomy. The aim of this study is to furtherly characterize this aspect, by describing the immune subpopulations in peripheral blood samples obtained from 41 pediatric patients with hereditary spherocytosis by flow cytometry, in order to evaluate changes in the composition of the immune populations compared to 16 healthy donors. Patients were divided in two groups: splenectomized and non-splenectomized. In the splenectomized population, data showed neutrophilic leukocytosis, </span>thrombocytosis<span>, increase in NK and reduction in CD4+ lymphocytes. However, we observed that most of the results obtained in the splenectomized group were found in the non-splenectomized patients as well (increase in neutrophils, in NK, reduction of CD19+, CD4+ lymphocytes and CD4+ and CD8+ naïve cells). The alterations of the immune system may be mainly due to the disease itself, regardless of splenectomy. Therefore, immunological criteria could be included in clinical phenotype assessment in order to better optimize the timing for splenectomy.</span></span></p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40344747","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}
引用次数: 0
Characterization of peripheral T helper 17 (Th17) cells phenotype in postmenopausal women with estrogen insufficiency 绝经后雌激素不足妇女外周血T辅助17 (Th17)细胞表型的表征
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-01-01 DOI: 10.1016/j.bcmd.2022.102702
Hetal Bhadricha , Vainav Patel , Anushree Patil , Suchitra Surve , Meena Desai
{"title":"Characterization of peripheral T helper 17 (Th17) cells phenotype in postmenopausal women with estrogen insufficiency","authors":"Hetal Bhadricha ,&nbsp;Vainav Patel ,&nbsp;Anushree Patil ,&nbsp;Suchitra Surve ,&nbsp;Meena Desai","doi":"10.1016/j.bcmd.2022.102702","DOIUrl":"10.1016/j.bcmd.2022.102702","url":null,"abstract":"<div><p><span>Over the past few years, Th17 cells<span> is considered a key player in osteoporosis pathogenesis. Although extensively studied in murine models, comprehensive Th17 cell characterization in osteoporotic women is elusive. We thus aimed to examine peripheral Th17 cells frequency and phenotypes in healthy and osteoporotic women. Our results demonstrated that Th17 cells were primarily CD4</span></span><sup>+</sup>CD45RA<sup>−</sup>CCR7<sup>−</sup>HALDR<sup>+</sup>CCR6<sup>low</sup><span>T-cells. Compared to Pre-N, Post-L showed increased proportion of Th17 with concomitant decrease in Th1 cells. The Th17 cells frequency in effector memory CD4</span><sup>+</sup><span> T cells was significantly elevated in Post-N with a decrease of Th1 cells in effector memory subsets compared to Pre-N and Post-L. Both Post-N and Post-L had decreased frequency of dual positive Th1-Th17 cells and increased HLA-DR expression on Th17 cells compared to Pre-N. Thus, our study demonstrates increased Th17 cells frequency and reduced Th1 cells frequency with effector memory phenotype in postmenopausal women with estrogen insufficiency and correlates with aging process.</span></p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40651529","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}
引用次数: 1
Long-term bone outcomes in Italian patients with Gaucher disease type 1 or type 3 treated with imiglucerase: A sub-study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry 意大利高谢病1型或3型患者接受imiglucerase治疗的长期骨预后:来自国际合作高谢组(ICGG)高谢注册中心的一项亚研究
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-01-01 DOI: 10.1016/j.bcmd.2022.102705
Maria Domenica Cappellini , Francesca Carubbi , Maja Di Rocco , Fiorina Giona , Gaetano Giuffrida
{"title":"Long-term bone outcomes in Italian patients with Gaucher disease type 1 or type 3 treated with imiglucerase: A sub-study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry","authors":"Maria Domenica Cappellini ,&nbsp;Francesca Carubbi ,&nbsp;Maja Di Rocco ,&nbsp;Fiorina Giona ,&nbsp;Gaetano Giuffrida","doi":"10.1016/j.bcmd.2022.102705","DOIUrl":"10.1016/j.bcmd.2022.102705","url":null,"abstract":"<div><h3>Background</h3><p>Gaucher disease (GD) is a lysosomal storage disorder. We evaluated the “real-world” effectiveness of first-line imiglucerase on long-term bone outcomes in Italian patients in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.</p></div><div><h3>Methods</h3><p>Patients treated with imiglucerase for ≥2 years and with bone assessments at baseline and during follow-up were selected. Data on bone pain, bone crises, marrow infiltration, avascular necrosis, infarction, lytic lesions, Erlenmeyer flask deformity, bone fractures, mineral density, and imiglucerase dosage were evaluated.</p></div><div><h3>Results</h3><p>Data on bone manifestations were available for 73 of 229 patients (31.9 %). Bone crises frequency decreased significantly from baseline to the most recent follow-up (p &lt; 0.001), with some improvement observed in bone pain prevalence. Bone pain and bone crises prevalence decreased significantly from baseline at 2 to &lt;4 and 4 to &lt;6 years (all p &lt; 0.05). A low median (25th, 75th percentile) baseline imiglucerase dosage was identified in patients reporting bone pain or bone crises (15.0 [13.7, 30.0] and 22.8 [17.5, 36.0] U/kg once every 2 weeks, respectively).</p></div><div><h3>Conclusion</h3><p>Our study suggests that the management of GD in Italy, with regards to imiglucerase dosage, is suboptimal and confirms the need for clinicians to monitor and correctly treat bone disease according to best practice guidelines.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40442260","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}
引用次数: 1
Rheumatological manifestations of chronic graft versus host disease - Case series 慢性移植物抗宿主病的风湿病表现-病例系列
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-01-01 DOI: 10.1016/j.bcmd.2022.102709
Jarosław Sabela , Jakub Wroński , Ewa Karakulska-Prystupiuk , Grzegorz Basak , Małgorzata Stasiek , Agnieszka Zielińska
{"title":"Rheumatological manifestations of chronic graft versus host disease - Case series","authors":"Jarosław Sabela ,&nbsp;Jakub Wroński ,&nbsp;Ewa Karakulska-Prystupiuk ,&nbsp;Grzegorz Basak ,&nbsp;Małgorzata Stasiek ,&nbsp;Agnieszka Zielińska","doi":"10.1016/j.bcmd.2022.102709","DOIUrl":"10.1016/j.bcmd.2022.102709","url":null,"abstract":"<div><h3>Objectives</h3><p><span>To present the rheumatological manifestations of chronic graft versus host disease (cGVHD) and describe how they differ from primary systemic </span>connective tissue diseases.</p></div><div><h3>Methods</h3><p>Description of 7 patients with cGVHD with symptoms resembling Sjögren's syndrome<span> and scleroderma, with a critical review of the literature.</span></p></div><div><h3>Results</h3><p><span><span>7 patients treated at the hematology department, who developed cGVHD with present </span>antinuclear antibodies<span><span>, were referred to the rheumatology department for further evaluation. All patients presented symptoms of dry eye syndrome confirmed with </span>ophthalmic<span> tests. If the diagnosis of GVHD<span> was not an exclusion criterion, Sjögren's syndrome criteria would be met by 4 of our patients – they presented not only with dryness but also with typical antibodies, inflammatory changes in salivary glands on ultrasound examination, and </span></span></span></span>mononuclear cell<span> infiltration in histopathological examination of labial salivary glands. Additionally, three patients presented with scleroderma-like syndromes, but with symptoms easy to differentiate from systemic sclerosis.</span></p></div><div><h3>Conclusion</h3><p>cGVHD may be difficult to distinguish from Sjögren's syndrome, but such distinction is important due to the different standards of treatment in cGVHD and primary connective tissue diseases.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40684358","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}
引用次数: 0
Plasma immune mediators as laboratorial biomarkers for Sickle Cell Disease patients according to the hydroxyurea therapy and disease severity 血浆免疫介质作为镰状细胞病患者根据羟基脲治疗和疾病严重程度的实验室生物标志物
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-01-01 DOI: 10.1016/j.bcmd.2022.102703
Sílvia Letícia de Oliveira Toledo , Valéria Sutana Ladeira , Leilismara Sousa Nogueira , Letícia Gonçalves Resende Ferreira , Marina Mendes Oliveira , Cristiane de Oliveira Renó , Hérica Lima dos Santos , Jordana Grazziela Alves Coelho-dos-Reis , Ana Carolina Campi-Azevedo , Andréa Teixeira-Carvalho , Olindo Assis Martins-Filho , Danyelle Romana Alves Rios , Melina Barros-Pinheiro
{"title":"Plasma immune mediators as laboratorial biomarkers for Sickle Cell Disease patients according to the hydroxyurea therapy and disease severity","authors":"Sílvia Letícia de Oliveira Toledo ,&nbsp;Valéria Sutana Ladeira ,&nbsp;Leilismara Sousa Nogueira ,&nbsp;Letícia Gonçalves Resende Ferreira ,&nbsp;Marina Mendes Oliveira ,&nbsp;Cristiane de Oliveira Renó ,&nbsp;Hérica Lima dos Santos ,&nbsp;Jordana Grazziela Alves Coelho-dos-Reis ,&nbsp;Ana Carolina Campi-Azevedo ,&nbsp;Andréa Teixeira-Carvalho ,&nbsp;Olindo Assis Martins-Filho ,&nbsp;Danyelle Romana Alves Rios ,&nbsp;Melina Barros-Pinheiro","doi":"10.1016/j.bcmd.2022.102703","DOIUrl":"10.1016/j.bcmd.2022.102703","url":null,"abstract":"<div><p><span><span>In the present work, the impact of Sickle Cell Disease (SCD) degrees of severity, as well </span>hydroxyurea<span> treatment<span> on the systemic immunological signatures of patients was evaluated. Based on a high-throughput chemokine, cytokine and growth factor multiplex analysis, it was possible to obtain the systemic immunological profile of patients with SCD (</span></span></span><em>n</em><span><span> = 40), treated or not with hydroxyurea, as compared to healthy controls (n = 40). Overall, SCD patients with severe disease displayed increased levels of almost all biomarkers analyzed. Our data demonstrated that CXCL8, CCL3 and </span>CXCL10 were pointed out as universal biomarkers of SCD. The results also indicated that HU-untreated patients with indication of HU-therapy display a more prominent increase on plasma immune mediators in a similar way as those with severe SCD disease. Together, these findings provided a comprehensive landscape of evidence that may have implications for further therapeutic strategies and SCD clinical management.</span></p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33497654","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}
引用次数: 1
Platelet-derived microvesicles activate human platelets via intracellular calcium mediated reactive oxygen species release 血小板来源的微泡通过细胞内钙介导的活性氧释放激活人血小板
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-01-01 DOI: 10.1016/j.bcmd.2022.102701
Pooja Yadav , Samir Kumar Beura , Abhishek Ramachandra Panigrahi , Taniya Bhardwaj , Rajanish Giri , Sunil Kumar Singh
{"title":"Platelet-derived microvesicles activate human platelets via intracellular calcium mediated reactive oxygen species release","authors":"Pooja Yadav ,&nbsp;Samir Kumar Beura ,&nbsp;Abhishek Ramachandra Panigrahi ,&nbsp;Taniya Bhardwaj ,&nbsp;Rajanish Giri ,&nbsp;Sunil Kumar Singh","doi":"10.1016/j.bcmd.2022.102701","DOIUrl":"10.1016/j.bcmd.2022.102701","url":null,"abstract":"<div><p><span>Platelet-derived microvesicles (PMVs) are the most abundant microvesicles in circulation, originating from blood platelets </span><em>via</em><span><span> membrane blebbing<span>. PMVs act as biological cargo carrying key molecules from platelets, including immunomodulatory molecules, growth factors, clotting molecules, and miRNAs<span> that can regulate recipient cellular functions. Formation and release of PMVs play an essential role in the pathophysiology<span> of vascular diseases such as hemostasis, inflammation, and thrombosis. </span></span></span></span>Platelet activation is considered the critical event in thrombosis, and a growing number of evidence suggests that oxidative stress-mediated signaling plays a significant role in platelet activation. Ca</span><sup>2+</sup><span> is a notable player in the generation of ROS in platelets. Reports have established that microvesicles exhibit dual nature in redox mechanisms as they possess both pro-oxidant and antioxidant machinery. However, the impact of PMVs and their ROS machinery on platelets is still a limited explored area. Here, we have demonstrated that PMVs mediate platelet activation </span><em>via</em> intracellular ROS generation. PMVs interacted with platelets and induced calcium-mediated intracellular ROS production <em>via</em><span> NADPH oxidase (NOX), leading to platelet activation. Our findings will open up new insights into the tangible relationship of PMVs with platelets and will further contribute to the therapeutic aspects of PMVs in vascular injury and tissue remodeling.</span></p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40346089","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}
引用次数: 4
Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital 初步临床怀疑对溶酶体贮积症实验室酶检测诊断率的影响。有多专科医院的工作经验
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-01-01 DOI: 10.1016/j.bcmd.2022.102704
Clara Carnicer-Cáceres , Yolanda Villena-Ortiz , Laura Castillo-Ribelles , Raquel Barquín-del-Pino , Maria Camprodon-Gomez , Ana Felipe-Rucián , David Moreno-Martínez , Sara Lucas-del-Pozo , Jorge Hernández-Vara , Anna García-Serra , Ariadna Tigri-Santiña , Marc Moltó-Abad , Irene Agraz-Pamplona , Jose F. Rodriguez-Palomares , Javier Limeres-Freire , Marc Macaya-Font , Victor Rodríguez-Sureda , Lucy Dougherty-De Miguel , Mireia del-Toro-Riera , Guillem Pintos-Morell , Jose Antonio Arranz-Amo
{"title":"Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital","authors":"Clara Carnicer-Cáceres ,&nbsp;Yolanda Villena-Ortiz ,&nbsp;Laura Castillo-Ribelles ,&nbsp;Raquel Barquín-del-Pino ,&nbsp;Maria Camprodon-Gomez ,&nbsp;Ana Felipe-Rucián ,&nbsp;David Moreno-Martínez ,&nbsp;Sara Lucas-del-Pozo ,&nbsp;Jorge Hernández-Vara ,&nbsp;Anna García-Serra ,&nbsp;Ariadna Tigri-Santiña ,&nbsp;Marc Moltó-Abad ,&nbsp;Irene Agraz-Pamplona ,&nbsp;Jose F. Rodriguez-Palomares ,&nbsp;Javier Limeres-Freire ,&nbsp;Marc Macaya-Font ,&nbsp;Victor Rodríguez-Sureda ,&nbsp;Lucy Dougherty-De Miguel ,&nbsp;Mireia del-Toro-Riera ,&nbsp;Guillem Pintos-Morell ,&nbsp;Jose Antonio Arranz-Amo","doi":"10.1016/j.bcmd.2022.102704","DOIUrl":"10.1016/j.bcmd.2022.102704","url":null,"abstract":"<div><p><span><span>Lysosomal storage disorders (LSD) are a group of inherited </span>metabolic diseases mainly caused by a deficiency of lysosomal </span>hydrolases<span>, resulting in a gradual accumulation of non-degraded substrates in different tissues causing the characteristic clinical manifestations of such disorders. Confirmatory tests of suspected LSD individuals include enzymatic and genetic testing. A well-oriented clinical suspicion can improve the cost-effectiveness of confirmatory tests and reduce the time expended to achieve the diagnosis. Thus, this work aims to retrospectively study the influence of clinical orientation on the diagnostic yield of enzymatic tests in LSD by retrieving clinical, biochemical, and genetic data obtained from subjects with suspicion of LSD. Our results suggest that the clinical manifestations at the time of diagnosis and the initial clinical suspicion can have a great impact on the diagnostic yield of enzymatic tests, and that clinical orientation performed in specialized clinical departments can contribute to improve it. In addition, the analysis of enzymatic tests as the first step in the diagnostic algorithm can correctly guide subsequent confirmatory genetic tests, in turn increasing their diagnostic yield. In summary, our results suggest that initial clinical suspicion plays a crucial role on the diagnostic yield of confirmatory enzymatic tests in LSD.</span></p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10477385","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}
引用次数: 1
Plasma exosomal microRNA expression profiles in patients with high-altitude polycythemia 高原红细胞增多症患者血浆外泌体microRNA表达谱
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-01-01 DOI: 10.1016/j.bcmd.2022.102707
Shengyan Wang , Jie Ma , Huiping Qiu , Shizhen Liu , Shouli Zhang , Huihui Liu , Peili Zhang , Ri-li Ge , Guojie Li , Sen Cui
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