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  1. Personalized medicine for MDS

    ... example, a younger patient with a negative prognostic mutation may be considered for a more intensive treatment, such as ... About 20% of patients with del (5q) have a concurrent TP53 mutation which suggests more aggressive disease and should be treated ...

    Research Review last updated 05/02/2016 - 9:44am.

  2. Paroxysmal nocturnal hemoglobinuria and the age of therapeutic complement inhibition

    ... disease of hematopoietic stem cells due to a mutation in the PIG-A gene leading to a deficiency of GPI-anchored ...

    Research Article last updated 11/05/2013 - 12:37pm.

  3. Clinical roundtable monograph: Paroxysmal nocturnal hemoglobinuria: a case-based discussion.

    ... all ages. PNH is caused by the acquisition of a somatic mutation of the gene phosphatidylinositol glycan anchor (PIG-A) in a ... cell (HSC), with clonal expansion of the mutated HSC. The mutation causes a deficiency in the synthesis of glycosylphosphatidylinositol ...

    Research Article last updated 05/14/2013 - 3:28pm.

  4. Advances in the molecular pathology of MDS

    ... clinical practice. The frequent finding of more than one mutation in patients confirms that MDS are a group of heterogeneous ...

    Research Review last updated 05/02/2016 - 9:44am.

  5. Myelodysplastic syndromes: Contemporary review and how we treat

    ... MDS. Going forward, we believe it is time to incorporate mutation information in clinically derived prognostic models in MDS and ...

    Research Article last updated 04/29/2016 - 1:05pm.

  6. Alina Dulau Florea, MD

    ... (PNH). In this condition, due to a gene mutation , some bone marrow cells and their progeny in the blood lack an ... swallowing, or develop blood clots. The cause of the gene mutation is unknown. Some patients with other conditions, such as aplastic ...

    Grant Recipient last updated 06/08/2017 - 10:39am.

  7. Shirley O’Brien’s Remarkable Response in a Clinical Trial

    ... had failed. After another bone marrow biopsy, a genetic mutation (the IDH1 gene) was identified. Then, the shocking statement was ... Leigh Clark, what my issues were and my specific genetic mutation. She immediately wrote me back:  "Hang on and give me 24 hours". In ...

    Patient Chronicle last updated 07/19/2017 - 8:12am.

  8. Investigation of 305 patients with myelodysplastic syndromes and 20q deletion for associated cytogenetic and molecular genetic lesions and their prognostic impact

    ... by fluorescence in situ hybridization , molecular mutation screening, and array comparative genomic hybridization (aCGH). By ...

    Research Article last updated 01/08/2014 - 8:30am.

  9. Current state of prognostication and risk stratification in myelodysplastic syndromes

    ... SUMMARY: How to best use the results of molecular mutation testing to inform clinical decision making in MDS is still a work ...

    Research Article last updated 03/02/2015 - 1:38pm.

  10. Paroxysmal nocturnal hemoglobinuria and the complement system: recent insights and novel anticomplement strategies

    ... marrow failure . PNH is due to a somatic, acquired mutation in the X-linked phosphatidylinositol glycan class A (PIG-A) gene, ...

    Research Article last updated 03/05/2013 - 9:38am.