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Quoted phrase not found in phrase index: "Hereditary Myelodysplastic Syndrome"
Page 1
Neutrophilic dermatoses.
Delaleu J, Lepelletier C, Calugareanu A, De Masson A, Charvet E, Petit A, Giurgea I, Amselem S, Karabina S, Jachiet M, Mahevas T, Ram-Wolff C, Vignon-Pennamen MD, Bagot M, Battistella M, Bouaziz JD. Delaleu J, et al. Rev Med Interne. 2022 Dec;43(12):727-738. doi: 10.1016/j.revmed.2022.06.007. Epub 2022 Jul 20. Rev Med Interne. 2022. PMID: 35870984 Review.
Recent findings suggest that ND are due to two main mechanisms: i) a polyclonal hereditary activation of the innate immune system (polygenic or monogenic); or ii) a clonal somatic activation of myeloid cells such as encountered in myelodysplastic syndrome or …
Recent findings suggest that ND are due to two main mechanisms: i) a polyclonal hereditary activation of the innate immune system (po …
Iron overload disorders.
Hsu CC, Senussi NH, Fertrin KY, Kowdley KV. Hsu CC, et al. Hepatol Commun. 2022 Aug;6(8):1842-1854. doi: 10.1002/hep4.2012. Epub 2022 Jun 14. Hepatol Commun. 2022. PMID: 35699322 Free PMC article. Review.
Confirmatory homeostatic iron regulator (HFE) genetic testing for C282Y and H63D, mutations most encountered in hereditary hemochromatosis, should be pursued in evaluation of hyperferritinemia. ...Differential diagnosis of secondary iron overload includes hematologic disor …
Confirmatory homeostatic iron regulator (HFE) genetic testing for C282Y and H63D, mutations most encountered in hereditary hemochroma …
Hematologic malignancies and Li-Fraumeni syndrome.
Swaminathan M, Bannon SA, Routbort M, Naqvi K, Kadia TM, Takahashi K, Alvarado Y, Ravandi-Kashani F, Patel KP, Champlin R, Kantarjian H, Strong L, DiNardo CD. Swaminathan M, et al. Cold Spring Harb Mol Case Stud. 2019 Feb 1;5(1):a003210. doi: 10.1101/mcs.a003210. Print 2019 Feb. Cold Spring Harb Mol Case Stud. 2019. PMID: 30709875 Free PMC article. Review.
Li-Fraumeni syndrome (LFS) is an autosomal dominant condition associated with a high risk of a broad range of childhood- and adult-onset cancers. LFS is related to germline mutations of the tumor-suppressor gene TP53 The most common reported leukemia associated with LFS is …
Li-Fraumeni syndrome (LFS) is an autosomal dominant condition associated with a high risk of a broad range of childhood- and adult-on …
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 …
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.
The clinical picture may be extremely heterogenous, mimicking different other systemic rheumatologic entities coexisting with haematological disorders, especially myelodysplastic syndrome. This new disease represents a very intriguing clinical condition in several r …
The clinical picture may be extremely heterogenous, mimicking different other systemic rheumatologic entities coexisting with haematological …
Laboratory Approach to Hemolytic Anemia.
Jamwal M, Sharma P, Das R. Jamwal M, et al. Indian J Pediatr. 2020 Jan;87(1):66-74. doi: 10.1007/s12098-019-03119-8. Epub 2019 Dec 10. Indian J Pediatr. 2020. PMID: 31823208 Review.
Olaparib tablets as maintenance therapy in patients with platinum-sensitive relapsed ovarian cancer and a BRCA1/2 mutation (SOLO2/ENGOT-Ov21): a final analysis of a double-blind, randomised, placebo-controlled, phase 3 trial.
Poveda A, Floquet A, Ledermann JA, Asher R, Penson RT, Oza AM, Korach J, Huzarski T, Pignata S, Friedlander M, Baldoni A, Park-Simon TW, Tamura K, Sonke GS, Lisyanskaya A, Kim JH, Filho EA, Milenkova T, Lowe ES, Rowe P, Vergote I, Pujade-Lauraine E; SOLO2/ENGOT-Ov21 investigators. Poveda A, et al. Lancet Oncol. 2021 May;22(5):620-631. doi: 10.1016/S1470-2045(21)00073-5. Epub 2021 Mar 18. Lancet Oncol. 2021. PMID: 33743851 Clinical Trial.
Treatment-emergent adverse events with a fatal outcome occurred in eight (4%) of the 195 patients receiving olaparib, six of which were judged to be treatment-related (attributed to myelodysplastic syndrome [n=3] and acute myeloid leukaemia [n=3]). INTERPRETATION: O …
Treatment-emergent adverse events with a fatal outcome occurred in eight (4%) of the 195 patients receiving olaparib, six of which were judg …
Hereditary myeloid malignancies.
Rafei H, DiNardo CD. Rafei H, et al. Best Pract Res Clin Haematol. 2019 Jun;32(2):163-176. doi: 10.1016/j.beha.2019.05.001. Epub 2019 May 3. Best Pract Res Clin Haematol. 2019. PMID: 31203998 Free PMC article. Review.
Myelodysplastic syndromes and acute myeloid leukemia are sporadic for the majority of cases affecting the elderly population. ...Genetic predispositions to myeloid malignancies can be classified into three categories: familial cancer syndromes associated with …
Myelodysplastic syndromes and acute myeloid leukemia are sporadic for the majority of cases affecting the elderly population. …
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 revised 2016 WHO classification introduced a novel category of "myeloid neoplasms with germline predisposition" with GATA2, CEBPA, DDX41, RUNX1, ANKRD26 and ETV6 genes expanding the spectrum of hereditary myeloid neoplasms (MN). Since then, more germline causes of MN w …
The revised 2016 WHO classification introduced a novel category of "myeloid neoplasms with germline predisposition" with GATA2, CEBPA, DDX41 …
Hereditary myopathies associated with hematological abnormalities.
Beecher G, Fleming MD, Liewluck T. Beecher G, et al. Muscle Nerve. 2022 Apr;65(4):374-390. doi: 10.1002/mus.27474. Epub 2022 Jan 5. Muscle Nerve. 2022. PMID: 34985130 Review.
A diverse spectrum of hematological abnormalities is associated with hereditary myopathies, including anemias, leukocyte abnormalities, and thrombocytopenia. ...Mild thrombocytopenia occurs in autosomal dominant, childhood-onset STIM1 tubular aggregate myopathy, STIM1 and …
A diverse spectrum of hematological abnormalities is associated with hereditary myopathies, including anemias, leukocyte abnormalitie …
115 results