Pub Date : 2024-07-19DOI: 10.1016/j.bcmd.2024.102854
The journal Blood Cells was initiated in 1975 by Marcel Bessis, a French hematologist and cell biologist, as a vehicle for the publication of papers and discussions presented at an international blood club meeting he convened at L' Institut de Pathologie Cellulaire on the campus of Hôpital Bicétre in Kremlin Bicétre, France, a commune on the southern border of Paris. The group met at the Institute for the first time in October 1972. After the first meeting, Bessis published the articles describing the presentations in the Nouvelle Revue d'Hématologie Française, France's principal journal for articles on the science and practice of hematology of which he was the editor. The refusal of the Nouvelle Revue d'Hématologie Française to continue publishing the papers from the meeting of the blood club in English prompted Bessis to start a new journal, Blood Cells, in 1975. Blood Cells, also, began to accept individual submitted papers unrelated to the blood club meeting and, thus, it evolved into a standard journal. A decade later, when Bessis became ill, he asked Brian Bull, a hematopathologist and professor at Loma Linda University School of Medicine in California to assume the position as the second editor-in-chief. He and Bessis had become scientific collaborators and good friends in the preceding years. In 1995, Ernest Beutler, Chair of Molecular and Experimental Medicine at Scripps Research Institute, assumed the editor-in-chief position and transformed the Journal by making three consequential changes. He expanded its title to Blood Cells, Molecules and Diseases, converted its editorial board to past presidents of the American Society of Hematology plus a few additional experimental hematologists of note, a few from abroad, and he converted the Journal to a digital format, hosted on the Scripps Research Institute server. The Journal was the first published solely in a digital format. It, subsequently, was bought by Academic Press, then Harcourt and, then, by Elsevier. The next three editors-in-chief were (i) Marshall A. Lichtman, then Professor of Medicine (Hematology) and of Biochemistry and Biophysics and former Dean of the School of Medicine and Dentistry at the University of Rochester Medical Center, editor from 2000 to 2013, (ii) Mohandas Narla, then Vice President for Research and Director of The Laboratory of Red Cell Physiology at the New York Blood Center, editor from 2014 to 2021 and (iii) Lionel Blanc, Professor of Molecular Medicine and Pediatrics, Center for Autoimmune, Musculoskeletal and Hematopoietic Diseases, Institute of Molecular Medicine, The Feinstein Institutes for Medical Research and the Les Nelkin Professor of Pediatric Oncology Donald and Barbara Zucker School of Medicine at Hofstra-Northwell from 2022 to the present. Although the Journal publishes papers on any aspect of hematology, it has developed a focus on disorders of r
1975年,法国血液学和细胞生物学家马塞尔-贝西斯(Marcel Bessis)在法国巴黎南部边境的克姆林比塞特尔市比塞特尔医院(Hôpital Bicétre)校园内的细胞病理研究所(L' Institut de Pathologie Cellulaire)召开了一次国际血液俱乐部会议,会上发表的论文和进行的讨论成为《血细胞》杂志的载体。该小组于 1972 年 10 月在研究所举行了第一次会议。第一次会议后,贝西斯在《法国血液学新评论》(Nouvelle Revue d'Hématologie Française)上发表了介绍会议情况的文章。由于《法国新血液学杂志》拒绝继续用英文发表血液俱乐部会议的论文,贝西斯于 1975 年创办了一份新杂志《血细胞》。血细胞》也开始接受个人提交的与血液俱乐部会议无关的论文,并由此发展成为一份标准期刊。十年后,贝西斯病逝,他邀请加州洛马琳达大学医学院教授、血液病理学家布莱恩-布尔担任第二任主编。此前几年,他和贝西斯已成为科研合作者和好朋友。1995 年,斯克里普斯研究所分子与实验医学主席欧内斯特-比尤特勒就任主编一职,并对期刊进行了三项重大改革。他将期刊名称改为《血细胞、分子和疾病》,将编委会成员改为美国血液学会前任主席以及其他几位著名的实验血液学家,其中有几位来自国外,并将期刊转换为数字格式,托管在斯克里普斯研究所的服务器上。该期刊是第一本完全以数字格式出版的期刊。随后,它先后被学术出版社、哈科特出版社和爱思唯尔出版社收购。接下来的三位主编分别是:(i) Marshall A.Lichtman,时任罗切斯特大学医学中心医学(血液学)和生物化学与生物物理学教授,医学与牙科学院前院长,2000 年至 2013 年的编辑;(ii) Mohandas Narla,时任纽约血液中心研究副总裁兼红细胞生理学实验室主任,2014 年至 2021 年的编辑;以及(iii) R. M. B. M. M. M. M、2014年至2021年担任编辑,(iii) 2022年至今担任编辑的是Lionel Blanc,他是费恩斯坦医学研究所分子医学研究所自身免疫、肌肉骨骼和造血疾病中心的分子医学和儿科教授,以及霍夫斯特拉-诺斯韦尔大学唐纳德和芭芭拉-扎克医学院儿科肿瘤学Les Nelkin教授。尽管该杂志发表的论文涉及血液学的方方面面,但它已将重点放在红细胞、红细胞生成和造血功能紊乱方面。2024 年 10 月,《血液学杂志》将迎来创刊 50 周年。
{"title":"The 50th anniversary of Blood Cells, Molecules and Diseases, 1975–2024","authors":"","doi":"10.1016/j.bcmd.2024.102854","DOIUrl":"10.1016/j.bcmd.2024.102854","url":null,"abstract":"<div><p>The journal <em>Blood Cells</em> was initiated in 1975 by Marcel Bessis, a French hematologist and cell biologist, as a vehicle for the publication of papers and discussions presented at an international blood club meeting he convened at L' Institut de Pathologie Cellulaire on the campus of Hôpital Bicétre in Kremlin Bicétre, France, a commune on the southern border of Paris. The group met at the Institute for the first time in October 1972. After the first meeting, Bessis published the articles describing the presentations in the <em>Nouvelle Revue d'Hématologie Française</em>, France's principal journal for articles on the science and practice of hematology of which he was the editor. The refusal of the <em>Nouvelle Revue d'Hématologie Française</em> to continue publishing the papers from the meeting of the blood club in English prompted Bessis to start a new journal, <em>Blood Cells</em>, in 1975. <em>Blood Cells</em>, also, began to accept individual submitted papers unrelated to the blood club meeting and, thus, it evolved into a standard journal. A decade later, when Bessis became ill, he asked Brian Bull, a hematopathologist and professor at Loma Linda University School of Medicine in California to assume the position as the second editor-in-chief. He and Bessis had become scientific collaborators and good friends in the preceding years. In 1995, Ernest Beutler, Chair of Molecular and Experimental Medicine at Scripps Research Institute, assumed the editor-in-chief position and transformed the <em>Journal</em> by making three consequential changes. He expanded its title to <em>Blood Cells, Molecules and Diseases</em>, converted its editorial board to past presidents of the American Society of Hematology plus a few additional experimental hematologists of note, a few from abroad, and he converted the <em>Journal</em> to a digital format, hosted on the Scripps Research Institute server. The <em>Journal</em> was the first published solely in a digital format. It, subsequently, was bought by Academic Press, then Harcourt and, then, by Elsevier. The next three editors-in-chief were (i) Marshall A. Lichtman, then Professor of Medicine (Hematology) and of Biochemistry and Biophysics and former Dean of the School of Medicine and Dentistry at the University of Rochester Medical Center, editor from 2000 to 2013, (ii) Mohandas Narla, then Vice President for Research and Director of The Laboratory of Red Cell Physiology at the New York Blood Center, editor from 2014 to 2021 and (iii) Lionel Blanc, Professor of Molecular Medicine and Pediatrics, Center for Autoimmune, Musculoskeletal and Hematopoietic Diseases, Institute of Molecular Medicine, The Feinstein Institutes for Medical Research and the Les Nelkin Professor of Pediatric Oncology Donald and Barbara Zucker School of Medicine at Hofstra-Northwell from 2022 to the present. Although the <em>Journal</em> publishes papers on any aspect of hematology, it has developed a focus on disorders of r","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141729243","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}
Pub Date : 2024-07-14DOI: 10.1016/j.bcmd.2024.102873
Background
Sickle cell disease (SCD) registries provide crucial real-world data on demographics, epidemiology, healthcare, patient outcomes, and treatment efficacy. This paper presents findings from the Indian SCD Registry (ISCDR) on clinical manifestations, crisis episodes, disease management, and healthcare utilization in patients with SCD from 12 primary health centres (PHCs) in six tribal districts of India.
Methods
The ISCDR was introduced along with a three-tier screening process. Its Android-based application incorporates two electronic case report forms for patient data collection over one year. This paper presents a year's data from the ISCDR's 324 patients with SCD.
Results
Patients with SCD, aged one to 65 years, exhibited varied clinical manifestations. Most patients (85.2 %) were unaware of their SCD status before enrolling in ISCDR. Moderate to severe anaemia was prevalent (66.05 % and 30.56 %, respectively). Pain was a common complaint (80.86 %; CI: 76.17–85.00), while symptoms of stroke included sudden severe headaches (34.57 %; CI: 29.40–40.02). Common splenic sequestration symptoms included stomach pain (42.90 %; CI: 37.44–48.49) and abdominal tenderness (13.27 %; CI: 9.77–17.46), as a sign. Healthcare utilization was high, with 96.30 % receiving treatment and 83.64 % consuming hydroxyurea. Hospitalization occurred for 38.27 % (CI: 32.95–43.81), and 12.04 % (CI: 8.70–16.09) had blood transfusion during last year.
Conclusions
ISCDR serves as a dynamic digital database on SCD epidemiology, clinical aspects, treatment and healthcare utilization. Notably, many patients lacked prior awareness of their SCD status, underscoring the need for improved awareness and care management. Integrating the registry into the national programme can streamline treatment implementation, prioritize management approaches, and optimize individual benefits.
{"title":"Sickle cell disease in Indian tribal population: Findings of a multi-centre Indian SCD registry","authors":"","doi":"10.1016/j.bcmd.2024.102873","DOIUrl":"10.1016/j.bcmd.2024.102873","url":null,"abstract":"<div><h3>Background</h3><p>Sickle cell disease (SCD) registries provide crucial real-world data on demographics, epidemiology, healthcare, patient outcomes, and treatment efficacy. This paper presents findings from the Indian SCD Registry (ISCDR) on clinical manifestations, crisis episodes, disease management, and healthcare utilization in patients with SCD from 12 primary health centres (PHCs) in six tribal districts of India.</p></div><div><h3>Methods</h3><p>The ISCDR was introduced along with a three-tier screening process. Its Android-based application incorporates two electronic case report forms for patient data collection over one year. This paper presents a year's data from the ISCDR's 324 patients with SCD.</p></div><div><h3>Results</h3><p>Patients with SCD, aged one to 65 years, exhibited varied clinical manifestations. Most patients (85.2 %) were unaware of their SCD status before enrolling in ISCDR. Moderate to severe anaemia was prevalent (66.05 % and 30.56 %, respectively). Pain was a common complaint (80.86 %; CI: 76.17–85.00), while symptoms of stroke included sudden severe headaches (34.57 %; CI: 29.40–40.02). Common splenic sequestration symptoms included stomach pain (42.90 %; CI: 37.44–48.49) and abdominal tenderness (13.27 %; CI: 9.77–17.46), as a sign. Healthcare utilization was high, with 96.30 % receiving treatment and 83.64 % consuming hydroxyurea. Hospitalization occurred for 38.27 % (CI: 32.95–43.81), and 12.04 % (CI: 8.70–16.09) had blood transfusion during last year.</p></div><div><h3>Conclusions</h3><p>ISCDR serves as a dynamic digital database on SCD epidemiology, clinical aspects, treatment and healthcare utilization. Notably, many patients lacked prior awareness of their SCD status, underscoring the need for improved awareness and care management. Integrating the registry into the national programme can streamline treatment implementation, prioritize management approaches, and optimize individual benefits.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141637396","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}
Pub Date : 2024-07-11DOI: 10.1016/j.bcmd.2024.102874
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive genetic disorder characterized by severe immunodeficiency, albinism and coagulation deficiency. Mostly diagnosed in early childhood, this devastating condition is associated with lysosomal abnormalities attributed to the absence or impaired function of lysosomal trafficking regulator caused by mutations in the CHS1/LYST gene. In current study, we report a case of late-onset CHS caused by two novel compound heterozygous CHS1/LYST mutations: c.8407C > T, leading to early termination of translation at residue Gln2803 (p. Gln2803Ter), and a small deletion c. 4020_4031del, resulting in an in-frame deletion of three amino acid residues (p. Asp1343_Val1346del). Both variants retain a large part of the CHS/LYST protein, particularly p. Asp1343_Val1346del, which preserves critical functional BEACH and WD40 domains in the C terminal, potentially maintaining residual activity and alleviating patient symptoms. The timeline of SARS-CoV-2 infection and rapid symptom progression suggests that the viral infection may have trigger the accelerated phase development leading to a poor prognosis.
{"title":"Accelerated phase development in a late-onset adolescent Chediak-Higashi syndrome patient caused by compound novel LYST mutations in the setting of SARS-CoV-2 infection","authors":"","doi":"10.1016/j.bcmd.2024.102874","DOIUrl":"10.1016/j.bcmd.2024.102874","url":null,"abstract":"<div><p>Chediak-Higashi syndrome (CHS) is a rare autosomal recessive genetic disorder characterized by severe immunodeficiency, albinism and coagulation deficiency. Mostly diagnosed in early childhood, this devastating condition is associated with lysosomal abnormalities attributed to the absence or impaired function of lysosomal trafficking regulator caused by mutations in the <em>CHS1/LYST</em> gene. In current study, we report a case of late-onset CHS caused by two novel compound heterozygous <em>CHS1/LYST</em> mutations: c.8407C > T, leading to early termination of translation at residue Gln2803 (p. Gln2803Ter), and a small deletion c. 4020_4031del, resulting in an in-frame deletion of three amino acid residues (p. Asp1343_Val1346del). Both variants retain a large part of the CHS/LYST protein, particularly p. Asp1343_Val1346del, which preserves critical functional BEACH and WD40 domains in the C terminal, potentially maintaining residual activity and alleviating patient symptoms. The timeline of SARS-CoV-2 infection and rapid symptom progression suggests that the viral infection may have trigger the accelerated phase development leading to a poor prognosis.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141698963","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}
Pub Date : 2024-07-07DOI: 10.1016/j.bcmd.2024.102871
A graft source for allogeneic hematopoietic stem cell transplantation is umbilical cord blood, which contains umbilical cord blood mononuclear cells (MNCs and mesenchymal stem cells, both an excellent source of extracellular microparticles (MPs). MPs act as cell communication mediators, which are implicated in reactive oxygen species formation or detoxification depending on their origin. Oxidative stress plays a crucial role in both the development of cancer and its treatment by triggering apoptotic mechanisms, in which CD34+ cells are implicated. The aim of this work is to investigate the oxidative stress status and the apoptosis of HL-60 and mononuclear cells isolated from umbilical cord blood (UCB) following a 24- and 48-hour exposure to CD34 + microparticles (CD34 + MPs). The activity of superoxide dismutase, glutathione reductase, and glutathione S-transferase, as well as lipid peroxidation in the cells, were employed as oxidative stress markers. A 24- and 48-hour exposure of leukemic and mononuclear cells to CD34 + -MPs resulted in a statistically significant increase in the antioxidant activity and lipid peroxidation in both cells types. Moreover, CD34 + MPs affect the expression of BCL2 and FAS and related proteins and downregulate the hematopoietic differentiation program in both HL-60 and mononuclear cells. Our results indicate that MPs through activation of antioxidant enzymes in both homozygous and nonhomozygous cells might serve as a means for graft optimization and enhancement.
{"title":"Molecular and biochemical evaluation of oxidative effects of cord blood CD34+ MPs on hematopoietic cells","authors":"","doi":"10.1016/j.bcmd.2024.102871","DOIUrl":"10.1016/j.bcmd.2024.102871","url":null,"abstract":"<div><p>A graft source for allogeneic hematopoietic stem cell transplantation is umbilical cord blood, which contains umbilical cord blood mononuclear cells (MNCs and mesenchymal stem cells, both an excellent source of extracellular microparticles (MPs). MPs act as cell communication mediators, which are implicated in reactive oxygen species formation or detoxification depending on their origin. Oxidative stress plays a crucial role in both the development of cancer and its treatment by triggering apoptotic mechanisms, in which CD34+ cells are implicated. The aim of this work is to investigate the oxidative stress status and the apoptosis of HL-60 and mononuclear cells isolated from umbilical cord blood (UCB) following a 24- and 48-hour exposure to CD34 + microparticles (CD34 + MPs). The activity of superoxide dismutase, glutathione reductase, and glutathione S-transferase, as well as lipid peroxidation in the cells, were employed as oxidative stress markers. A 24- and 48-hour exposure of leukemic and mononuclear cells to CD34 + -MPs resulted in a statistically significant increase in the antioxidant activity and lipid peroxidation in both cells types. Moreover, CD34 + MPs affect the expression of BCL2 and FAS and related proteins and downregulate the hematopoietic differentiation program in both HL-60 and mononuclear cells. Our results indicate that MPs through activation of antioxidant enzymes in both homozygous and nonhomozygous cells might serve as a means for graft optimization and enhancement.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141623690","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}
TAFRO syndrome is a rare systemic inflammatory disorder of unknown etiology characterized by thrombocytopenia, anasarca, fever, reticulin myelofibrosis, renal dysfunction, and organomegaly. The diagnosis of TAFRO syndrome can be challenging; however, prompt diagnosis is vital because TAFRO syndrome is a progressive and life-threatening disease. We have showcased five patients with TAFRO syndrome who had similar bone marrow (BM) findings that could be considered the findings that characterize TAFRO syndrome. All patients were treated with corticosteroids and tocilizumab; three of the five patients (60 %) responded positively to the treatment. The unique BM findings observed in this study were megakaryocytes with distinct multinuclei and three-dimensional and indistinct bizarre nuclei (“dysmorphic megakaryocyte”), similar to the megakaryocyte morphology observed in myeloproliferative neoplasms (MPNs). Notably, dysmorphic megakaryocytes were observed in all five cases, whereas only two of the five patients tested positive for reticulin myelofibrosis, and three of the five patients had megakaryocytic hyperplasia, which are considered typical findings of TAFRO syndrome. Thus, the BM findings of dysmorphic megakaryocytes could help in the correct and immediate diagnosis of TAFRO syndrome.
{"title":"Dysmorphic megakaryocytes in TAFRO syndrome: A case series from a single institute","authors":"Shohei Maida , Hiromi Nakagawa , Hiroshi Ureshino , Kyoko Kajihara , Shinichi Yamazaki , Tatsuo Ichinohe","doi":"10.1016/j.bcmd.2024.102870","DOIUrl":"10.1016/j.bcmd.2024.102870","url":null,"abstract":"<div><p>TAFRO syndrome is a rare systemic inflammatory disorder of unknown etiology characterized by thrombocytopenia, anasarca, fever, reticulin myelofibrosis, renal dysfunction, and organomegaly. The diagnosis of TAFRO syndrome can be challenging; however, prompt diagnosis is vital because TAFRO syndrome is a progressive and life-threatening disease. We have showcased five patients with TAFRO syndrome who had similar bone marrow (BM) findings that could be considered the findings that characterize TAFRO syndrome. All patients were treated with corticosteroids and tocilizumab; three of the five patients (60 %) responded positively to the treatment. The unique BM findings observed in this study were megakaryocytes with distinct multinuclei and three-dimensional and indistinct bizarre nuclei (“dysmorphic megakaryocyte”), similar to the megakaryocyte morphology observed in myeloproliferative neoplasms (MPNs). Notably, dysmorphic megakaryocytes were observed in all five cases, whereas only two of the five patients tested positive for reticulin myelofibrosis, and three of the five patients had megakaryocytic hyperplasia, which are considered typical findings of TAFRO syndrome. Thus, the BM findings of dysmorphic megakaryocytes could help in the correct and immediate diagnosis of TAFRO syndrome.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141404724","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}
Pub Date : 2024-06-07DOI: 10.1016/j.bcmd.2024.102862
Wei Cheng , Jinrui Zhang , Xipeng Wang , Guoqing Liu , Wanru Yao , Chunli Wang , Runhui Wu , Zhiqiang Li
This retrospective study at Beijing Children's Hospital (2020–2023) analyzed surgical procedures and complications in 24 pediatric hemophilia patients undergoing Totally Implantable Venous Access Port (TIVAP) insertion, primarily in the right jugular vein (RJV). We detailed the surgical process, including patient demographics and intraoperative imaging use. The choice of the RJV for TIVAP placement was influenced by its larger diameter and superficial anatomical position, potentially reducing risks like thrombosis and infection. Our findings support the RJV as a safer alternative for port placement in pediatric patients, aligning with current literature. Statistical analysis revealed no significant correlation between complications and baseline characteristics like weight and diagnosis type. However, the length of hospital stay and implant brand were significant risk factors for catheter or port displacement and removal. The limited patient number may introduce bias, suggesting a need for further studies with larger samples. Despite a 14.7 %–33 % complication rate and 5 port removals, the advantages of TIVAP, including reliable venous access, reduced discomfort, and treatment convenience, were evident. Most complications improved with symptomatic treatment, and there were no deaths due to port-related complications, underscoring the impact of TIVAP on improving pediatric hemophilia treatment.
{"title":"Surgical procedures and complications in placement of totally implantable venous access port in pediatric hemophilia patients: A retrospective analysis","authors":"Wei Cheng , Jinrui Zhang , Xipeng Wang , Guoqing Liu , Wanru Yao , Chunli Wang , Runhui Wu , Zhiqiang Li","doi":"10.1016/j.bcmd.2024.102862","DOIUrl":"10.1016/j.bcmd.2024.102862","url":null,"abstract":"<div><p>This retrospective study at Beijing Children's Hospital (2020–2023) analyzed surgical procedures and complications in 24 pediatric hemophilia patients undergoing Totally Implantable Venous Access Port (TIVAP) insertion, primarily in the right jugular vein (RJV). We detailed the surgical process, including patient demographics and intraoperative imaging use. The choice of the RJV for TIVAP placement was influenced by its larger diameter and superficial anatomical position, potentially reducing risks like thrombosis and infection. Our findings support the RJV as a safer alternative for port placement in pediatric patients, aligning with current literature. Statistical analysis revealed no significant correlation between complications and baseline characteristics like weight and diagnosis type. However, the length of hospital stay and implant brand were significant risk factors for catheter or port displacement and removal. The limited patient number may introduce bias, suggesting a need for further studies with larger samples. Despite a 14.7 %–33 % complication rate and 5 port removals, the advantages of TIVAP, including reliable venous access, reduced discomfort, and treatment convenience, were evident. Most complications improved with symptomatic treatment, and there were no deaths due to port-related complications, underscoring the impact of TIVAP on improving pediatric hemophilia treatment.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1079979624000408/pdfft?md5=2b35836cd4ee944b58be12582d724ec4&pid=1-s2.0-S1079979624000408-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141403393","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}
Pub Date : 2024-05-29DOI: 10.1016/j.bcmd.2024.102861
This study aimed to investigate the mechanism of the apoptosis of erythroblasts in rat bone marrow after the exposure to hypobaric hypoxia. Male SD rats were randomly divided into three groups. The hypoxic group was kept in a hypobaric hypoxia chamber at a simulated altitude of 5000 m for 7 and 28 days, respectively. The control group was kept at an altitude of 2260 m. We found that myeloid: erythroid (M:E) ratio was significantly lower after hypoxia exposure and the proportions of polychromatic erythroblasts and orthochromatic erythroblasts significantly increased compared to control group, along with significant increase in the proportion of CD71+ cells and apoptosis rate. The expression levels of caspase-3, Bax, and Cyt-C in CD71+ cells were higher after hypoxia exposure than those in control group, while there was no significant difference in the expression levels of TNFR and Fas. In conclusion, after exposure to hypobaric hypoxia the proliferation of peripheral blood and bone marrow erythroblasts in rats increased, and apoptosis also increased, indicating that bone marrow erythroblasts in rats is regulated by both proliferation and apoptosis, and the mitochondrial pathway is one of the important pathways for apoptosis.
{"title":"Mechanism of the apoptosis of bone marrow erythroblasts in rats under hypobaric hypoxia","authors":"","doi":"10.1016/j.bcmd.2024.102861","DOIUrl":"10.1016/j.bcmd.2024.102861","url":null,"abstract":"<div><p>This study aimed to investigate the mechanism of the apoptosis of erythroblasts in rat bone marrow after the exposure to hypobaric hypoxia. Male SD rats were randomly divided into three groups. The hypoxic group was kept in a hypobaric hypoxia chamber at a simulated altitude of 5000 m for 7 and 28 days, respectively. The control group was kept at an altitude of 2260 m. We found that myeloid: erythroid (M:E) ratio was significantly lower after hypoxia exposure and the proportions of polychromatic erythroblasts and orthochromatic erythroblasts significantly increased compared to control group, along with significant increase in the proportion of CD71+ cells and apoptosis rate. The expression levels of caspase-3, Bax, and Cyt-C in CD71+ cells were higher after hypoxia exposure than those in control group, while there was no significant difference in the expression levels of TNFR and Fas. In conclusion, after exposure to hypobaric hypoxia the proliferation of peripheral blood and bone marrow erythroblasts in rats increased, and apoptosis also increased, indicating that bone marrow erythroblasts in rats is regulated by both proliferation and apoptosis, and the mitochondrial pathway is one of the important pathways for apoptosis.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141260720","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}
Pub Date : 2024-05-29DOI: 10.1016/j.bcmd.2024.102859
Khaled M. Musallam , Susanna Barella , Raffaella Origa , Giovanni Battista Ferrero , Roberto Lisi , Annamaria Pasanisi , Filomena Longo , Barbara Gianesin , Gian Luca Forni , Webthal® project
We conducted a retrospective cohort study on 663 transfusion-dependent β-thalassemia patients receiving the same iron chelation monotherapy with deferoxamine, deferiprone, or deferasirox for up to 10 years (median age 31.8 years, 49.9 % females). Patients on all three iron chelators had a steady and significant decline in serum ferritin over the 10 years (median deferoxamine: −170.7 ng/mL, P = 0.049, deferiprone: −236.7 ng/mL, P = 0.001; deferasirox: −323.7 ng/mL, P < 0.001) yet had no significant change in liver iron concentration or cardiac T2*; while noting that patients generally had low hepatic and cardiac iron levels at study start. Median absolute, relative, and normalized changes were generally comparable between the three iron chelators. Patients receiving deferasirox had the highest morbidity and mortality-free survival probability among the three chelators, although the difference was only statistically significant when compared with deferoxamine (P = 0.037). On multivariate Cox regression analysis, there was no significant association between iron chelator type and the composite outcome of morbidity or mortality. In a real-world setting, there is comparable long-term iron chelation effectiveness between the three available iron chelators for patients with mild-to-moderate iron overload.
{"title":"Differential effects of iron chelators on iron burden and long-term morbidity and mortality outcomes in a large cohort of transfusion-dependent β-thalassemia patients who remained on the same monotherapy over 10 years","authors":"Khaled M. Musallam , Susanna Barella , Raffaella Origa , Giovanni Battista Ferrero , Roberto Lisi , Annamaria Pasanisi , Filomena Longo , Barbara Gianesin , Gian Luca Forni , Webthal® project","doi":"10.1016/j.bcmd.2024.102859","DOIUrl":"10.1016/j.bcmd.2024.102859","url":null,"abstract":"<div><p>We conducted a retrospective cohort study on 663 transfusion-dependent β-thalassemia patients receiving the same iron chelation monotherapy with deferoxamine, deferiprone, or deferasirox for up to 10 years (median age 31.8 years, 49.9 % females). Patients on all three iron chelators had a steady and significant decline in serum ferritin over the 10 years (median deferoxamine: −170.7 ng/mL, <em>P</em> = 0.049, deferiprone: −236.7 ng/mL, <em>P</em> = 0.001; deferasirox: −323.7 ng/mL, <em>P</em> < 0.001) yet had no significant change in liver iron concentration or cardiac T2*; while noting that patients generally had low hepatic and cardiac iron levels at study start. Median absolute, relative, and normalized changes were generally comparable between the three iron chelators. Patients receiving deferasirox had the highest morbidity and mortality-free survival probability among the three chelators, although the difference was only statistically significant when compared with deferoxamine (<em>P</em> = 0.037). On multivariate Cox regression analysis, there was no significant association between iron chelator type and the composite outcome of morbidity or mortality. In a real-world setting, there is comparable long-term iron chelation effectiveness between the three available iron chelators for patients with mild-to-moderate iron overload.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141183152","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}
Pub Date : 2024-05-29DOI: 10.1016/j.bcmd.2024.102860
A. Guarina , P. Farruggia , E. Mariani , P. Saracco , A. Barone , D. Onofrillo , S. Cesaro , R. Angarano , W. Barberi , S. Bonanomi , P. Corti , B. Crescenzi , G. Dell'Orso , A. De Matteo , G. Giagnuolo , A.P. Iori , S. Ladogana , A. Lucarelli , M. Lupia , B. Martire , C. Dufour
Acquired aplastic anemia (AA) is a rare heterogeneous disorder characterized by pancytopenia and hypoplastic bone marrow. The incidence is 2–3 per million population per year in the Western world, but 3 times higher in East Asia. Survival in severe aplastic anemia (SAA) has improved significantly due to advances in hematopoietic stem cell transplantation (HSCT), immunosuppressive therapy, biologic agents, and supportive care. In SAA, HSCT from a matched sibling donor (MSD) is the first-line treatment. If a MSD is not available, options include immunosuppressive therapy (IST), matched unrelated donor, or haploidentical HSCT. The purpose of this guideline is to provide health care professionals with clear guidance on the diagnosis and management of pediatric patients with AA. A preliminary evidence-based document prepared by a group of pediatric hematologists of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Hemato-Oncology (AIEOP) was discussed, modified and approved during a series of consensus conferences that started online during COVID 19 and continued in the following years, according to procedures previously validated by the AIEOP Board of Directors.
获得性再生障碍性贫血(AA)是一种罕见的异质性疾病,其特征是全血细胞减少和骨髓发育不良。在西方国家,其发病率为每年每百万人中有 2-3 例,但在东亚则高出 3 倍。由于造血干细胞移植(HSCT)、免疫抑制疗法、生物制剂和支持治疗的进步,重型再生障碍性贫血(SAA)的存活率有了显著提高。在 SAA 中,配型相合的同胞捐献者(MSD)的造血干细胞移植是一线治疗方法。如果没有匹配的同胞供体,则可选择免疫抑制疗法(IST)、匹配的非亲属供体或单倍体造血干细胞移植。本指南旨在为医护人员提供有关 AA 儿童患者诊断和管理的明确指导。由意大利小儿血液肿瘤协会(AIEOP)骨髓衰竭研究小组的一组小儿血液病专家编写的初步循证文件在一系列共识会议上进行了讨论、修改和批准。
{"title":"Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP)","authors":"A. Guarina , P. Farruggia , E. Mariani , P. Saracco , A. Barone , D. Onofrillo , S. Cesaro , R. Angarano , W. Barberi , S. Bonanomi , P. Corti , B. Crescenzi , G. Dell'Orso , A. De Matteo , G. Giagnuolo , A.P. Iori , S. Ladogana , A. Lucarelli , M. Lupia , B. Martire , C. Dufour","doi":"10.1016/j.bcmd.2024.102860","DOIUrl":"10.1016/j.bcmd.2024.102860","url":null,"abstract":"<div><p>Acquired aplastic anemia (AA) is a rare heterogeneous disorder characterized by pancytopenia and hypoplastic bone marrow. The incidence is 2–3 per million population per year in the Western world, but 3 times higher in East Asia. Survival in severe aplastic anemia (SAA) has improved significantly due to advances in hematopoietic stem cell transplantation (HSCT), immunosuppressive therapy, biologic agents, and supportive care. In SAA, HSCT from a matched sibling donor (MSD) is the first-line treatment. If a MSD is not available, options include immunosuppressive therapy (IST), matched unrelated donor, or haploidentical HSCT. The purpose of this guideline is to provide health care professionals with clear guidance on the diagnosis and management of pediatric patients with AA. A preliminary evidence-based document prepared by a group of pediatric hematologists of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Hemato-Oncology (AIEOP) was discussed, modified and approved during a series of consensus conferences that started online during COVID 19 and continued in the following years, according to procedures previously validated by the AIEOP Board of Directors.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141417573","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}
Immune dysregulation is crucial in the pathogenesis of acquired aplastic anaemia (aAA). There is paucity of data regarding correlation of baseline cytokine profile with treatment response in aAA.
Objective
Present prospective case-control study aimed to correlate the baseline cytokines in patients with aAA with the treatment response.
Methods
Fifty-one patients with newly-diagnosed aAA > 13 years of either sex were enrolled over 1.5 years. Twenty age-and sex-matched healthy controls (HC) were also included. The cytokine profile (IL-2, 4, 6, 8, 10, 17, IFN-γ and TNF-α) in the peripheral blood plasma of aAA patients was performed at the baseline using cytometric bead analysis. The cytokine levels were compared with HC and correlated with response to immunosuppressive therapy (IST) at 3-months.
Results
The median age of cases was 29 years (range,13–74). The cases had higher mean levels of IL2 (p = 0.326), IL4 (p = 0.038), IL6 (p = 0.000), IL10 (p = 0.002), TNF-α (p = 0.302), IFN-γ (p = 0.569) and IL-17 (p = 0.284) than the HC. The baseline levels of all the cytokines were higher (statistically non-significant) among responders (n = 13) than the non-responders (n = 14) to IST.
Conclusions
Baseline cytokine profile in patients with aAA might predict response to the IST. Larger studies are needed to validate our results.
{"title":"Aberrant baseline cytokine profile in patients with newly diagnosed acquired aplastic anaemia correlates with disease severity and the treatment response","authors":"Rahul Vatsayan , Ankur Jain , Aditya Jandial , Parveen Bose , Man Updesh Singh Sachdeva , Neelam Varma , Arihant Jain , Gaurav Prakash , Alka Khadwal , Pankaj Malhotra","doi":"10.1016/j.bcmd.2024.102857","DOIUrl":"10.1016/j.bcmd.2024.102857","url":null,"abstract":"<div><h3>Background</h3><p>Immune dysregulation is crucial in the pathogenesis of acquired aplastic anaemia (aAA). There is paucity of data regarding correlation of baseline cytokine profile with treatment response in aAA.</p></div><div><h3>Objective</h3><p>Present prospective case-control study aimed to correlate the baseline cytokines in patients with aAA with the treatment response.</p></div><div><h3>Methods</h3><p>Fifty-one patients with newly-diagnosed aAA > 13 years of either sex were enrolled over 1.5 years. Twenty age-and sex-matched healthy controls (HC) were also included. The cytokine profile (IL-2, 4, 6, 8, 10, 17, IFN-γ and TNF-α) in the peripheral blood plasma of aAA patients was performed at the baseline using cytometric bead analysis. The cytokine levels were compared with HC and correlated with response to immunosuppressive therapy (IST) at 3-months.</p></div><div><h3>Results</h3><p>The median age of cases was 29 years (range,13–74). The cases had higher mean levels of IL2 (<em>p</em> = 0.326), IL4 (<em>p</em> = 0.038), IL6 (<em>p</em> = 0.000), IL10 (<em>p</em> = 0.002), TNF-α (<em>p</em> = 0.302), IFN-γ (<em>p</em> = 0.569) and IL-17 (<em>p</em> = 0.284) than the HC. The baseline levels of all the cytokines were higher (statistically non-significant) among responders (<em>n</em> = 13) than the non-responders (<em>n</em> = 14) to IST.</p></div><div><h3>Conclusions</h3><p>Baseline cytokine profile in patients with aAA might predict response to the IST. Larger studies are needed to validate our results.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141030757","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}