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 .
Journal ArticleDOI
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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Shwachman-Diamond Syndrome: A Review of the Clinical Presentation, Molecular Pathogenesis, Diagnosis, and Treatment
TL;DR: This article focuses on the clinical presentation, diagnostic work-up, clinical management, and treatment of patients with Shwachman-Diamond syndrome.
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Diagnostic utility of telomere length testing in a hospital-based setting
Jonathan K. Alder,Vidya Sagar Hanumanthu,Margaret A. Strong,Amy E. DeZern,Susan E. Stanley,Clifford M. Takemoto,Ludmilla Danilova,Carolyn D. Applegate,Stephen G. Bolton,David W. Mohr,Robert A. Brodsky,James F. Casella,Carol W. Greider,J. Brooks Jackson,Mary Armanios +14 more
TL;DR: It is shown that, in contrast to other methods, TL measurement by flow cytometry and FISH (flowFISH) can be standardized, and has reproducible and definable upper and lower normal boundaries, and informs patient care decisions.
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Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway
Jean Soulier,Thierry Leblanc,Jérôme Larghero,Hélène Dastot,Akiko Shimamura,Philippe Guardiola,Helene Esperou,Christèle Ferry,Charlotte Jubert,Jean-Paul Feugeas,A. Henri,Antoine Toubert,Gérard Socié,André Baruchel,François Sigaux,Alan D. D'Andrea,Eliane Gluckman +16 more
TL;DR: Results show that specific analysis of the FA/BRCA pathway, combined with clinical and chromosome breakage data, allows a comprehensive characterization of FA patients.
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Genetic predisposition to hematologic malignancies: management and surveillance
Lucy A. Godley,Akiko Shimamura +1 more
TL;DR: Indications to consider additional studies and referral for allogeneic stem cell transplantation are also discussed and expert consensus recommendations and medical management considerations are integrated.
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GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.
Karthik A. Ganapathi,Danielle M. Townsley,Amy P. Hsu,Diane C. Arthur,Christa S. Zerbe,Jennifer Cuellar-Rodriguez,Dennis D. Hickstein,Sergio D. Rosenzweig,Raul C. Braylan,Neal S. Young,Steven M. Holland,Katherine R. Calvo +11 more
TL;DR: Routine BM flow cytometry, morphology, and cytogenetics in patients who present with cytopenia(s) can identify patients for whom GATA2 sequencing is indicated, and prospectively identified 4 of 32 patients with suspected AA who had features suspicious for GATA1 mutations, later confirmed by DNA sequencing.