Approach to the diagnosis of aplastic anemia
Amy E. DeZern,Jane E. Churpek +1 more
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This article is published in Blood Advances.The article was published on 2021-06-22 and is currently open access. It has received 18 citations till now.read more
Citations
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Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders
TL;DR: In this article , the authors conducted a retrospective cohort study of 350 subjects with hematologic disorders who underwent skin fibroblast culture for germline genetic testing, and the median culture time was 28 days (IQR 22−29 days).
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A New Artificial Intelligence Approach Using Extreme Learning Machine as the Potentially Effective Model to Predict and Analyze the Diagnosis of Anemia
TL;DR: In this article , a more precise and automated prediction model is proposed to distinguish these four types to accelerate the identification process for doctors, and the results showed 99.21% accuracy, 98.44% sensitivity, 99.30% precision and an F1 score of 98.84%.
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Overview of inherited bone marrow failure syndromes
TL;DR: An overview of the genetic causes of IBMFS has led to important advances in understanding DNA repair, telomere biology, ribosome biogenesis, and hematopoietic stem cell regulation.
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Paroxysmal nocturnal hemoglobinuria: Where we stand
TL;DR: A plethora of new drugs interfering with the proximal and terminal complement cascade are under recent development and the first proof-of-pinciple proximal complement inhibitor targeting C3 has been approved in 2021 as mentioned in this paper .
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Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicities
Timothy S. Olson,Benjamin F Frost,J. L. Duke,Marian Dribus,Hongbo Xie,Zachary D. Prudowsky,Elissa Furutani,Jonas Gudera,Y. Shah,Deborah Ferriola,Amalia Dinou,Ioanna Pagkrati,Soyoung Kim,Yixi Xu,Meilun He,Shannon Zheng,Sally Nijim,Ping Lin,Chong Xu,Taizo A. Nakano,Joseph H. Oved,Beatriz M. Carreno,Yung-Tsi Bolon,Shahinaz M. Gadalla,Steven G.E. Marsh,Sophie Paczesny,Stephanie J. Lee,Dimitri S. Monos,Akiko Shimamura,Alison A. Bertuch,Loren Gragert,Stephen R. Spellman,Daria V. Babushok +32 more
TL;DR: It is demonstrated that HLA alleles confer different risks of developing AA, but once AA develops, specific alleles are not associated with response to immunosuppression or trans-plant outcomes, and higher pathogenicity alleles, particularly HLA-B*14:02, are associated with higher rates of clonal evolution in adult AA patients.
References
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BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders
Frederik Damm,Frederik Damm,Virginie Chesnais,Yasunobu Nagata,Kenichi Yoshida,Laurianne Scourzic,Laurianne Scourzic,Yusuke Okuno,Raphael Itzykson,Masashi Sanada,Yuichi Shiraishi,Véronique Gelsi-Boyer,Véronique Gelsi-Boyer,Aline Renneville,Satoru Miyano,Hiraku Mori,Lee-Yung Shih,Sophie Park,François Dreyfus,Agnès Guerci-Bresler,Eric Solary,Christian Rose,Stéphane Cheze,Thomas Prebet,Thomas Prebet,Norbert Vey,Norbert Vey,Marion Legentil,Yannis Duffourd,Stéphane de Botton,Claude Preudhomme,Daniel Birnbaum,Daniel Birnbaum,Olivier Bernard,Olivier Bernard,Seishi Ogawa,Michaela Fontenay,Olivier Kosmider +37 more
TL;DR: Deep sequencing data suggest that BCOR mutations define the clinical course rather than disease initiation, and despite infrequent mutations, BCOR analyses should be considered in risk stratification.
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Association of Telomere Length of Peripheral Blood Leukocytes With Hematopoietic Relapse, Malignant Transformation, and Survival in Severe Aplastic Anemia
Phillip Scheinberg,James N. Cooper,Elaine M. Sloand,Colin O. Wu,Rodrigo T. Calado,Neal S. Young +5 more
TL;DR: In a cohort of patients with severe aplastic anemia receiving immunosuppressive therapy, telomere length was unrelated to response but was associated with risk of relapse, clonal evolution, and overall survival.
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Epidemiology of aplastic anemia: a prospective multicenter study
TL;DR: The incidence of aplastic anemia in Barcelona is low but the case fatality rate is high and advanced age and severe disease at the time of diagnosis were associated with decreased survival.
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Reproducibility of telomere length assessment: an international collaborative study
Carmen Martin-Ruiz,Duncan M. Baird,Laureline Roger,Petra Boukamp,Damir Krunic,Richard M. Cawthon,Martin M Dokter,Pim van der Harst,Sofie Bekaert,Tim De Meyer,Göran Roos,Ulrika Svenson,Veryan Codd,Nilesh J. Samani,Liane M. McGlynn,Paul G. Shiels,Karen A. Pooley,Alison M. Dunning,Rachel Cooper,Andrew Wong,Andrew Kingston,Thomas von Zglinicki +21 more
TL;DR: Intra- and inter-laboratory technical variation severely limits the usefulness of data pooling and excludes sharing of reference ranges between laboratories, and it is proposed to establish a common set of physical telomere length standards to improve comparability of telomeres length estimates between laboratories.
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Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase
TL;DR: The cooccurrence of AA and pulmonary fibrosis in a single patient or family is highly predictive for the presence of a germline telomerase defect and affects the choice of bone marrow transplantation preparative regimen and can prevent morbidity.