Blood Cells Molecules and Diseases最新文献_第2页

Danazol causes significant changes in the cardiometabolic profile of patients with acquired aplastic anaemia 达那唑引起获得性再生障碍性贫血患者心脏代谢谱的显著变化

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2025-03-26 DOI: 10.1016/j.bcmd.2025.102921

Hitesh Gurjar , Ankur Jain , Sujata Wangkheimayum , Subhash Varma , Rajesh Vijayvergiya , Pankaj Malhotra

{"title":"Danazol causes significant changes in the cardiometabolic profile of patients with acquired aplastic anaemia","authors":"Hitesh Gurjar , Ankur Jain , Sujata Wangkheimayum , Subhash Varma , Rajesh Vijayvergiya , Pankaj Malhotra","doi":"10.1016/j.bcmd.2025.102921","DOIUrl":"10.1016/j.bcmd.2025.102921","url":null,"abstract":"<div><h3>Background</h3><div>Danazol is frequently used in treating patients with acquired aplastic anaemia (AA) in resource-constraint settings. We aimed to evaluate the cardiometabolic side effects of Danazol in patients with AA.</div></div><div><h3>Methods</h3><div>This prospective study included newly-diagnosed AA patients ≥13 years of age who were eligible for Danazol monotherapy (10 mg/kg/day, capped at 600 mg/day). Lipid profile and two-dimensional echocardiogram were obtained at the baseline and after 6 months of Danazol treatment. Transfusion of blood products and liver function test-based dose adjustments were done as indicated. Pre- and post-treatment parameters were compared using SPSS software version 25.</div></div><div><h3>Results</h3><div>36 patients (median age, 28.5 years) were enrolled. HDL cholesterol decreased by 30 % (p ≤0.001), and LDL cholesterol increased by 11 % (p = 0.002) at the end of 6 months. At the end of 6 months, there was a significant increase in the left ventricular (LV) ejection fraction (p = 0.001), LV mass (p ≤0.001), peak A-velocity (p = 0.01), isovolumetric relaxation time (p = 0.032), and a significant decrease in peak E-velocity (p ≤0.00) and Tei index (p = 0.031). Right ventricular E/A ratio also decreased significantly (p < 0.001).</div></div><div><h3>Conclusions</h3><div>Danazol treatment causes profound dyslipidaemia and potential cardiac dysfunction in patients with AA.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"112 ","pages":"Article 102921"},"PeriodicalIF":2.1,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143747489","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

Factors associated with the occurrence of leg ulcers in people with sickle cell disease: A case-control study 镰状细胞病患者腿部溃疡发生的相关因素：一项病例对照研究

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2025-03-22 DOI: 10.1016/j.bcmd.2025.102922

Josimare Aparecida Otoni Spira , Mery Natali Silva Abreu , Antônio Carlos Martins Guedes , Eline Lima Borges

{"title":"Factors associated with the occurrence of leg ulcers in people with sickle cell disease: A case-control study","authors":"Josimare Aparecida Otoni Spira , Mery Natali Silva Abreu , Antônio Carlos Martins Guedes , Eline Lima Borges","doi":"10.1016/j.bcmd.2025.102922","DOIUrl":"10.1016/j.bcmd.2025.102922","url":null,"abstract":"<div><h3>Aim</h3><div>To identify factors associated with the occurrence of leg ulcers in people with sickle cell disease.</div></div><div><h3>Methods</h3><div>Unpaired case-control study, conducted in 11 specialized services, between August 2019 and April 2020. The convenience sample consisted of 262 people over 18 years of age, diagnosed with sickle cell disease, with 190 controls and 72 cases. To evaluate the possible factors associated with the occurrence of ulcers, both univariate and multivariate binary logistic regression models were used.</div></div><div><h3>Findings</h3><div>The factors associated with the occurrence of leg ulcers were previously healed ulcers (odds ratio 48.48), presence of edema in the lower limbs (5.75), use of antibiotics in the last six months (3.08), daily rest (4.59), and use of compression stockings (6.24). Overweight (0.16), physical leisure (0.33), and domestic (0.37) activities were associated with a lower chance of occurrence of ulcers.</div></div><div><h3>Conclusion</h3><div>Identifying the factors that increase the likelihood of leg ulcers occurring in people with sickle cell disease adds to our knowledge of the subject, especially by determining factors that mitigate the occurrence of ulcers and that go beyond clinical variables.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"112 ","pages":"Article 102922"},"PeriodicalIF":2.1,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143681931","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

Culprit or innocent bystander? The case of a new fast-moving hemoglobin J variant in a pregnant woman 罪犯还是无辜的旁观者？一种新的快速移动的血红蛋白J变异孕妇的病例

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2025-03-12 DOI: 10.1016/j.bcmd.2025.102920

Ilaria Cerroni , Valeria Renola , Alessia Micalizzi , Ester Romanelli , Lucrezia De Marchi , Giorgia Ranucci , Flavia Mallegni , Elisa Meddi , Federico Moretti , Camilla Page , Antonietta Viola , Giovangiacinto Paterno , Maria Ilaria Del Principe , Stefania Casciani , Adriano Venditti , Sergio Bernardini , Antonio Novelli , Maria Teresa Voso , Carmelo Gurnari

引用次数: 0

Unveiling the role of RPS17 and SLC4A1 in diamond-Blackfan Anemia: A zebrafish-based study 揭示RPS17和SLC4A1在diamond-Blackfan贫血中的作用：一项基于斑马鱼的研究

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2025-02-25 DOI: 10.1016/j.bcmd.2025.102912

Kyeongmin Kim , Hyerin Lee , Soyul Ahn , Yun Hak Kim , Chang-Kyu Oh

{"title":"Unveiling the role of RPS17 and SLC4A1 in diamond-Blackfan Anemia: A zebrafish-based study","authors":"Kyeongmin Kim , Hyerin Lee , Soyul Ahn , Yun Hak Kim , Chang-Kyu Oh","doi":"10.1016/j.bcmd.2025.102912","DOIUrl":"10.1016/j.bcmd.2025.102912","url":null,"abstract":"<div><div>Diamond-Blackfan Anemia (DBA) is a rare congenital disorder characterized by macrocytic anemia, physical abnormalities, and growth delays. Although RPS19 mutations have been more extensively studied in DBA compared to other ribosomal protein genes, the pathological mechanisms of genes such as RPS17 remain largely unexplored. This study aimed to investigate the role of RPS17 haploinsufficiency in DBA, focusing on its downstream effects on erythropoiesis and the involvement of SLC4A1, a critical erythrocyte membrane protein essential for red blood cell stability. Transcriptomic analysis of publicly available RNA sequencing data from DBA patients revealed significant downregulation of SLC4A1 in RPS17-mutated cases. To validate these findings, we generated a zebrafish model of DBA by knocking down <em>rps17</em> using morpholino injections. Zebrafish embryos with <em>rps17</em> knockdown exhibited reduced erythropoiesis, impaired hemoglobin synthesis, consistent with DBA. Further analysis confirmed decreased <em>slc4a1a</em> expression in rps17-morphants. Independent knockdown of <em>slc4a1a</em> in zebrafish resulted in similar erythropoietic defects, highlighting its critical role in red blood cell membrane integrity and function. This study identifies slc4a1 as a key downstream target of RPS17 haploinsufficiency and provides novel insights into the molecular mechanisms of DBA. By establishing zebrafish as an effective in vivo model, this research offers potential therapeutic targets for treating DBA and related erythropoietic disorders.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"112 ","pages":"Article 102912"},"PeriodicalIF":2.1,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143487929","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

Hereditary disorders of ineffective erythropoiesis 无效红细胞生成的遗传性疾病

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2025-02-07 DOI: 10.1016/j.bcmd.2025.102910

Richard A. King , Rami Khoriaty

引用次数: 0

Immunodeficiency in children with Diamond Blackfan and Diamond Blackfan like anemia 患有钻石黑扇和钻石黑扇样贫血的儿童免疫缺陷

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2025-02-07 DOI: 10.1016/j.bcmd.2025.102911

Iman Ragab , Sara Makkeyah , Noura Hassan , Michael Botros , Lydie Da Costa , Nihal Hussien Aly

{"title":"Immunodeficiency in children with Diamond Blackfan and Diamond Blackfan like anemia","authors":"Iman Ragab , Sara Makkeyah , Noura Hassan , Michael Botros , Lydie Da Costa , Nihal Hussien Aly","doi":"10.1016/j.bcmd.2025.102911","DOIUrl":"10.1016/j.bcmd.2025.102911","url":null,"abstract":"<div><h3>Background</h3><div>Diamond-Blackfan anemia Syndrome (DBAS) is a ribosomopathy with erythroid failure. DBA-like picture occurs with non-ribosomal mutation and a normal rRNA maturation. Immunodeficiency in patients with DBAS is not adequately studied. We aimed to study the frequency of infections and immunoglobulins levels in children with DBAS.</div></div><div><h3>Methods</h3><div>Children and adolescents with DBAS were included. Infections were scored according to the immunodeficiency related score (IDR). Total serum immunoglobulin A (IgA), IgG and IgM were measured. Molecular studies were done to a group of patients.</div></div><div><h3>Results</h3><div>Thirty-four patients had a median age at diagnosis of 3.6 month-old. Fourteen (41 %) patients had an IDR score of ≥6, and 4 of them (28.6 %) had low immunoglobulin levels. Patients with IDR score > 6 had significantly lower IgG (471 versus 1057 mg/dl, <em>p</em> <em>=</em> 0,032) and serum IgA (24 versus 98.5 mg/dl, <em>p</em> <em>=</em> 0.015) than IDR < 6 group. We report mortality in 8 (23.5 %) patients, two of them were related to infection. Molecular analyses were performed in 8 probands and 17 relatives (5 families); 7 of the probands carried <em>CECR1/ADA2</em> gene mutation and one patient carried a pathogenic variant in <em>RPL36</em> gene.</div></div><div><h3>Conclusion</h3><div>We highlight the presence of underlying immunodeficiency in a group of patients with DBA and DBA-like disease.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"111 ","pages":"Article 102911"},"PeriodicalIF":2.1,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143350160","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

Red blood cell pyruvate kinase properties in Townes and Berkeley sickle cell disease mouse models – Of mice and men 汤斯和伯克利镰状细胞病小鼠模型中的红细胞丙酮酸激酶特性-小鼠和男性

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2025-01-16 DOI: 10.1016/j.bcmd.2025.102909

Marissa J.M. Traets , Titine J.J. Ruiter , Charles Levine , Anita W. Rijneveld , Judith J. Jans , Carsten Alt , Minke A.E. Rab , Yu-Wei Chen , Richard van Wijk , Brigitte A. van Oirschot

{"title":"Red blood cell pyruvate kinase properties in Townes and Berkeley sickle cell disease mouse models – Of mice and men","authors":"Marissa J.M. Traets , Titine J.J. Ruiter , Charles Levine , Anita W. Rijneveld , Judith J. Jans , Carsten Alt , Minke A.E. Rab , Yu-Wei Chen , Richard van Wijk , Brigitte A. van Oirschot","doi":"10.1016/j.bcmd.2025.102909","DOIUrl":"10.1016/j.bcmd.2025.102909","url":null,"abstract":"<div><div>Pyruvate kinase (PK), a key ATP-generating enzyme in glycolysis, is a target for novel sickle cell disease (SCD) therapies. Enhancing PK activity lowers 2,3-diphosphyglycerate (2,3-DPG), increases adenosine triphosphate (ATP), and may prevent red blood cell (RBC) sickling. Townes and Berkeley SCD mouse models are commonly used for the development of novel drugs for SCD, but differ from humans in 2,3-DPG and ATP levels, which could be related to underlying differences in PK properties. This study revealed important distinctions with humans (SCD vs healthy controls), such as similar PK/hexokinase (HK) ratios between sickling and non-sickling mouse models and significantly lower PK thermostability in mice. We additionally investigated the effect of a novel RBC PK activator, compound A, on PK properties and sickling tendency in these mice in order to assess SCD mouse model suitability. Results showed that a single dose of compound A led to an increased affinity of PK for phosphoenolpyruvate, a significant increase in PK/HK ratio and a decrease of 2,3-DPG levels. Together, these results offer detailed characterization in the PK properties of two commonly used SCD mouse models, and provide insight into the mode of action of PK activator therapy in SCD mice models.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"111 ","pages":"Article 102909"},"PeriodicalIF":2.1,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999414","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}

引用次数: 0

Short- and long-term alterations of hematopoietic cell lineages in rats with congenital iron deficiency 先天性缺铁大鼠造血细胞谱系的短期和长期改变。

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2024-12-17 DOI: 10.1016/j.bcmd.2024.102908

Anthony Babu , Zachary R. Smith , Narmin Mukhtarova , Ashajyothi M. Siddappa , Pamela J. Kling

{"title":"Short- and long-term alterations of hematopoietic cell lineages in rats with congenital iron deficiency","authors":"Anthony Babu , Zachary R. Smith , Narmin Mukhtarova , Ashajyothi M. Siddappa , Pamela J. Kling","doi":"10.1016/j.bcmd.2024.102908","DOIUrl":"10.1016/j.bcmd.2024.102908","url":null,"abstract":"<div><div>Data support that fetal iron delivery is prioritized to hemoglobin in erythrocytes (RBC). Iron deficiency (ID) during pregnancy can cause congenital ID, i.e., low fetal iron acquisition. Because how congenital ID impacts other fetal hematopoietic cell lineages is unknown our pilot study examined this in a rat congenital ID model. Pregnant dams fed ID diets were compared to iron sufficient (IS) controls. Iron indices, complete cell counts with differentials, and microscopic morphology were studied at birth P2–3, mid-recovery P15 and adolescent post-recovery P45. Compared to IS at birth, ID rats exhibited 350 % higher zinc protoporphyrin/heme, 70 % lower plasma ferritin, 30 % lower hemoglobin, 25 % fewer platelets, but nucleated RBC (nRBC) and reticulocytes did not differ. Compared to IS at birth, ID rats exhibited 36 % fewer white counts (WBC) but proportionate lymphocytes and granulocytes (all <em>P</em> < 0.015). Compared to IS at P45, RBC, platelets, and WBC numbers did not differ, but lymphocytes were relatively lower in ID (<em>P</em> < 0.01). Microscopic morphology differed from IS in ID, with persistent differences at P45. Because altered inflammatory programming was previously reported in congenital ID and because this pilot study found altered WBC populations, this model of congenital ID is well situated to investigate long-term developmental programming.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"111 ","pages":"Article 102908"},"PeriodicalIF":2.1,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142871124","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

Corrigendum to “Clinical utility of relative telomere length analysis in pediatric bone marrow failure” [Blood Cells Mol. Dis. 109 (2024) 102882] 更正："相对端粒长度分析在小儿骨髓衰竭中的临床应用" [Blood Cells Mol. Dis. 109 (2024) 102882]。

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2024-11-07 DOI: 10.1016/j.bcmd.2024.102899

Shilpa Amatya , Prateek Bhatia , Sudhanshi Raina , Sreejesh Sreedharanunni , Minu Singh , Emine Rahman , M.V. Archana , Amita Trehan

引用次数: 0

Marked microcytosis and increased transferrin saturation: Think about variants in SLC11A2 (DMT1) 明显的小红细胞症和转铁蛋白饱和度升高：考虑 SLC11A2（DMT1）的变异。

IF 2.1 4区医学

Blood Cells Molecules and Diseases Pub Date : 2024-11-02 DOI: 10.1016/j.bcmd.2024.102898

Alexandre Raynor , Katell Peoc'h , Camille Boi , Hana Manceau , Serge Pissard , Karim Diallo , Caroline Kannengiesser , Pierre Rohrlich

引用次数: 0