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Quoted phrase not found in phrase index: "Hereditary Myelodysplastic Syndrome"
Page 1
VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases.
Vitale A, Caggiano V, Bimonte A, Caroni F, Tosi GM, Fabbiani A, Renieri A, Bocchia M, Frediani B, Fabiani C, Cantarini L. Vitale A, et al. Intern Emerg Med. 2023 Apr;18(3):711-722. doi: 10.1007/s11739-023-03193-z. Epub 2023 Jan 20. Intern Emerg Med. 2023. PMID: 36662445 Free PMC article. Review.
VEXAS syndrome should be strongly considered in each adult patient with an unexplained systemic inflammatory condition, especially when recurrent fevers, neutrophilic dermatosis, relapsing polychondritis, ocular inflammation and other systemic inflammatory symptoms accompa …
VEXAS syndrome should be strongly considered in each adult patient with an unexplained systemic inflammatory condition, especially wh …
NCCN Guidelines Insights: Myelodysplastic Syndromes, Version 3.2022.
Greenberg PL, Stone RM, Al-Kali A, Bennett JM, Borate U, Brunner AM, Chai-Ho W, Curtin P, de Castro CM, Deeg HJ, DeZern AE, Dinner S, Foucar C, Gaensler K, Garcia-Manero G, Griffiths EA, Head D, Jonas BA, Keel S, Madanat Y, Maness LJ, Mangan J, McCurdy S, McMahon C, Patel B, Reddy VV, Sallman DA, Shallis R, Shami PJ, Thota S, Varshavsky-Yanovsky AN, Westervelt P, Hollinger E, Shead DA, Hochstetler C. Greenberg PL, et al. J Natl Compr Canc Netw. 2022 Feb;20(2):106-117. doi: 10.6004/jnccn.2022.0009. J Natl Compr Canc Netw. 2022. PMID: 35130502
The NCCN Guidelines for Myelodysplastic Syndromes (MDS) provide recommendations for the evaluation, diagnosis, and management of patients with MDS based on a review of clinical evidence that has led to important advances in treatment or has yielded new information o …
The NCCN Guidelines for Myelodysplastic Syndromes (MDS) provide recommendations for the evaluation, diagnosis, and management …
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
Sahoo SS, Kozyra EJ, Wlodarski MW. Sahoo SS, et al. Best Pract Res Clin Haematol. 2020 Sep;33(3):101197. doi: 10.1016/j.beha.2020.101197. Epub 2020 Jul 29. Best Pract Res Clin Haematol. 2020. PMID: 33038986 Free PMC article. Review.
The main focus lies in delineation of phenotypes, genetics and management of GATA2 deficiency and the novel SAMD9/SAMD9L-related disorders. Combined, GATA2 and SAMD9/SAMD9L (SAMD9/9L) syndromes are recognized as most frequent causes of primary paediatric myelodysplastic …
The main focus lies in delineation of phenotypes, genetics and management of GATA2 deficiency and the novel SAMD9/SAMD9L-related disorders. …
Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.
van der Made CI, Potjewijd J, Hoogstins A, Willems HPJ, Kwakernaak AJ, de Sevaux RGL, van Daele PLA, Simons A, Heijstek M, Beck DB, Netea MG, van Paassen P, Elizabeth Hak A, van der Veken LT, van Gijn ME, Hoischen A, van de Veerdonk FL, Leavis HL, Rutgers A. van der Made CI, et al. J Allergy Clin Immunol. 2022 Jan;149(1):432-439.e4. doi: 10.1016/j.jaci.2021.05.014. Epub 2021 May 25. J Allergy Clin Immunol. 2022. PMID: 34048852
BACKGROUND: A novel autoinflammatory syndrome was recently described in male patients who harbored somatic mutations in the X-chromosomal UBA1 gene. ...Early diagnosis can prevent unnecessary diagnostic procedures and provide better prognostic information and more s …
BACKGROUND: A novel autoinflammatory syndrome was recently described in male patients who harbored somatic mutations in the X-chromos …
Cerebrovascular Complications of Anemia.
Fonseca AC, Silva DP, Infante J, Ferro JM. Fonseca AC, et al. Curr Neurol Neurosci Rep. 2021 Sep 3;21(10):51. doi: 10.1007/s11910-021-01141-y. Curr Neurol Neurosci Rep. 2021. PMID: 34480226 Review.
In this article, we aimed to perform a narrative review of the main cerebrovascular complications of anemia and its influence on stroke prognosis. RECENT FINDINGS: Both hypoproliferative anemia (thalassemia, iron deficiency anemia, etc.) and hyperproliferative anemia (sick …
In this article, we aimed to perform a narrative review of the main cerebrovascular complications of anemia and its influence on stroke p …
GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.
Kotmayer L, Romero-Moya D, Marin-Bejar O, Kozyra E, Català A, Bigas A, Wlodarski MW, Bödör C, Giorgetti A. Kotmayer L, et al. Br J Haematol. 2022 Nov;199(4):482-495. doi: 10.1111/bjh.18330. Epub 2022 Jun 26. Br J Haematol. 2022. PMID: 35753998 Free PMC article. Review.
This is emphasized by the establishment of a novel WHO disease category in 2016 called "myeloid neoplasms with germline predisposition". A major syndrome within this group is GATA2 deficiency, a heterogeneous immunodeficiency syndrome with a very high lifetime risk …
This is emphasized by the establishment of a novel WHO disease category in 2016 called "myeloid neoplasms with germline predisposition". A m …
Hematological Malignancies in Adults With a Family Predisposition.
Bochtler T, Haag GM, Schott S, Kloor M, Krämer A, Müller-Tidow C. Bochtler T, et al. Dtsch Arztebl Int. 2018 Dec 14;115(50):848-854. doi: 10.3238/arztebl.2018.0848. Dtsch Arztebl Int. 2018. PMID: 30722840 Free PMC article. Review.
BACKGROUND: Some hematological malignancies arise in persons with a hereditary predisposition. The hereditary nature of these diseases often goes unrecognized, particularly when symptoms begin in adulthood. ...RESULTS: Many rare germline mutations have been identifi …
BACKGROUND: Some hematological malignancies arise in persons with a hereditary predisposition. The hereditary nature of these …
Anemia as the Main Manifestation of Myelodysplastic Syndromes.
Santini V. Santini V. Semin Hematol. 2015 Oct;52(4):348-56. doi: 10.1053/j.seminhematol.2015.06.002. Epub 2015 Jun 30. Semin Hematol. 2015. PMID: 26404446 Review.
Myelodysplastic syndromes (MDS) are a constellation of different diseases sharing anemia in the great majority of cases, and this cytopenia defines these pathologies and their most dramatic clinical manifestations. ...While still waiting for this waiver, their clini …
Myelodysplastic syndromes (MDS) are a constellation of different diseases sharing anemia in the great majority of cases, and t …
Acquired platelet function defects.
Bick RL. Bick RL. Hematol Oncol Clin North Am. 1992 Dec;6(6):1203-28. Hematol Oncol Clin North Am. 1992. PMID: 1452509 Review.
Platelet dysfunctions, especially acquired forms, are common causes of hemorrhage, especially when associated with trauma or surgery. Although the hereditary platelet function defects are generally quite rare, hereditary storage-pool disease is common enough to be s …
Platelet dysfunctions, especially acquired forms, are common causes of hemorrhage, especially when associated with trauma or surgery. Althou …
Transcription factor mutations as a cause of familial myeloid neoplasms.
Churpek JE, Bresnick EH. Churpek JE, et al. J Clin Invest. 2019 Feb 1;129(2):476-488. doi: 10.1172/JCI120854. Epub 2019 Feb 1. J Clin Invest. 2019. PMID: 30707109 Free PMC article. Review.
The initiation and evolution of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) are driven by genomic events that disrupt multiple genes controlling hematopoiesis. ...Here we illustrate mechanistic advances in our understanding of familial MDS/AML …
The initiation and evolution of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) are driven by genomic events t …
38 results