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Quoted phrase not found in phrase index: "Diamond-Blackfan anemia 21"
Page 1
Neonatal manifestations of inherited bone marrow failure syndromes.
Khincha PP, Savage SA. Khincha PP, et al. Semin Fetal Neonatal Med. 2016 Feb;21(1):57-65. doi: 10.1016/j.siny.2015.12.003. Epub 2015 Dec 24. Semin Fetal Neonatal Med. 2016. PMID: 26724991 Free PMC article. Review.
The inherited bone marrow failure syndromes (IBMFS) are a rare yet clinically important cause of neonatal hematological and non-hematological manifestations. Many of these syndromes, such as Fanconi anemia, dyskeratosis congenita and Diamond-Blackfan anemi …
The inherited bone marrow failure syndromes (IBMFS) are a rare yet clinically important cause of neonatal hematological and non-hematologica …
Oxidative DNA Damage, Inflammatory Signature, and Altered Erythrocytes Properties in Diamond-Blackfan Anemia.
Kapralova K, Jahoda O, Koralkova P, Gursky J, Lanikova L, Pospisilova D, Divoky V, Horvathova M. Kapralova K, et al. Int J Mol Sci. 2020 Dec 17;21(24):9652. doi: 10.3390/ijms21249652. Int J Mol Sci. 2020. PMID: 33348919 Free PMC article.
Molecular pathophysiology of Diamond-Blackfan anemia (DBA) involves disrupted erythroid-lineage proliferation, differentiation and apoptosis; with the activation of p53 considered as a key component. ...
Molecular pathophysiology of Diamond-Blackfan anemia (DBA) involves disrupted erythroid-lineage proliferation, differen …
Inherited bone marrow failure syndromes: considerations pre- and posttransplant.
Alter BP. Alter BP. Blood. 2017 Nov 23;130(21):2257-2264. doi: 10.1182/blood-2017-05-781799. Blood. 2017. PMID: 29167174 Free PMC article. Review.
They often have specific birth defects or other physical abnormalities that suggest a syndrome, and sequencing of specific genes or next-generation sequencing can determine or confirm the particular syndrome. The 4 most frequent syndromes are Fanconi anemia, dyskeratosis c …
They often have specific birth defects or other physical abnormalities that suggest a syndrome, and sequencing of specific genes or next-gen …
Stem Cell Transplantation for Diamond-Blackfan Anemia. A Retrospective Study on Behalf of the Severe Aplastic Anemia Working Party of the European Blood and Marrow Transplantation Group (EBMT).
Miano M, Eikema DJ, de la Fuente J, Bosman P, Ghavamzadeh A, Smiers F, Sengeløv H, Yesilipek A, Formankova R, Bader P, Díaz Pérez MÁ, Bertrand Y, Niemeyer C, Diallo S, Ansari M, Bykova TA, Faraci M, Bonanomi S, Gozdzik J, Satti TM, Bodova I, Wölfl M, Rocha VG, Mellgren K, Rascon J, Holter W, Lange A, Meisel R, Beguin Y, Mozo Y, Kriván G, Sirvent A, Bruno B, Dalle JH, Onofrillo D, Giardino S, Risitano AM, de Latour RP, Dufour C. Miano M, et al. Transplant Cell Ther. 2021 Mar;27(3):274.e1-274.e5. doi: 10.1016/j.jtct.2020.12.024. Epub 2020 Dec 25. Transplant Cell Ther. 2021. PMID: 33781541 Free article.
Data on stem cell transplantation (SCT) for Diamond-Blackfan Anemia (DBA) is limited. We studied patients transplanted for DBA and registered in the EBMT database. ...The incidence of acute grades II to IV of graft-versus-host disease (GVHD) was 30% (21 …
Data on stem cell transplantation (SCT) for Diamond-Blackfan Anemia (DBA) is limited. We studied patients transplanted …
Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.
Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M. Bezzerri V, et al. Int J Mol Sci. 2020 Jun 30;21(13):4672. doi: 10.3390/ijms21134672. Int J Mol Sci. 2020. PMID: 32630050 Free PMC article. Review.
The pathogenesis of IBMFS involves mutations in several genes which encode for proteins involved in DNA repair, telomere biology and ribosome biogenesis. The classical IBMFS include Shwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), Fanco …
The pathogenesis of IBMFS involves mutations in several genes which encode for proteins involved in DNA repair, telomere biology and ribosom …
Managing the Unusual Causes of Fetal Anemia.
Maisonneuve E, Ben M'Barek I, Leblanc T, Da Costa L, Friszer S, Pernot F, Thomas P, Castaigne V, Toly N'Dour C, Mailloux A, Cortey A, Jouannic JM. Maisonneuve E, et al. Fetal Diagn Ther. 2020;47(2):156-164. doi: 10.1159/000501554. Epub 2019 Sep 10. Fetal Diagn Ther. 2020. PMID: 31505487
Among those IUT, 23 (3.9%) were performed for a rare or unknown cause of anemia in 13 fetuses (5.1% of transfused fetuses). The median gestational age at diagnosis was 26 weeks of gestation (WG; range 21-33). ...There was 1 case with suspected type I CDA and 1 with …
Among those IUT, 23 (3.9%) were performed for a rare or unknown cause of anemia in 13 fetuses (5.1% of transfused fetuses). The media …
L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia Registry.
Vlachos A, Atsidaftos E, Lababidi ML, Muir E, Rogers ZR, Alhushki W, Bernstein J, Glader B, Gruner B, Hartung H, Knoll C, Loew T, Nalepa G, Narla A, Panigrahi AR, Sieff CA, Walkovich K, Farrar JE, Lipton JM. Vlachos A, et al. Pediatr Blood Cancer. 2020 Dec;67(12):e28748. doi: 10.1002/pbc.28748. Epub 2020 Oct 6. Pediatr Blood Cancer. 2020. PMID: 33025707 Free PMC article. Clinical Trial.
BACKGROUND: Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by anemia, short stature, congenital anomalies, and cancer predisposition. ...RESULTS: This multicenter, phase I/II study enrolled 55 subjects; 43 were …
BACKGROUND: Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by anemia, …
Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study.
Wan Y, Chen X, An W, Ruan M, Zhang J, Chang L, Zhang R, Zhu S, Zhang Y, Yang W, Guo Y, Yuan W, Zou Y, Chen Y, Zhu X. Wan Y, et al. Int J Hematol. 2016 Oct;104(4):430-9. doi: 10.1007/s12185-016-2044-9. Epub 2016 Jun 21. Int J Hematol. 2016. PMID: 27329125
Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by a paucity of erythroid progenitors. ...During follow-up for a median 39 months, 33.7 % of the patients achieved remission, 41.3 % of the patients were persistently tra …
Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by a paucity of erythroid prog …
Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.
Tsilou ET, Giri N, Weinstein S, Mueller C, Savage SA, Alter BP. Tsilou ET, et al. Ophthalmology. 2010 Mar;117(3):615-22. doi: 10.1016/j.ophtha.2009.08.023. Epub 2009 Dec 22. Ophthalmology. 2010. PMID: 20022637 Free PMC article.
PURPOSE: The inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders that share the inability of the bone marrow to produce an adequate number of blood cells. The 4 most frequent syndromes are Fanconi anemia (FA), dyskeratosis congeni …
PURPOSE: The inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders that share the inability of the …
High-dose intravenous methylprednisolone therapy for patients with Diamond-Blackfan anemia refractory to conventional doses of prednisone.
Bernini JC, Carrillo JM, Buchanan GR. Bernini JC, et al. J Pediatr. 1995 Oct;127(4):654-9. doi: 10.1016/s0022-3476(95)70134-6. J Pediatr. 1995. PMID: 7562296
OBJECTIVES: To assess the efficacy and toxicity of very high doses of glucocorticoids in patients with congenital pure red cell aplasia (Diamond-Blackfan anemia) who did not respond to standard doses of prednisone. STUDY DESIGNS: We prospectively treated eigh …
OBJECTIVES: To assess the efficacy and toxicity of very high doses of glucocorticoids in patients with congenital pure red cell aplasia ( …
16 results