Publications by authors named "Ashley Galvin"
Fanconi anemia (FA), a genetic DNA repair disorder characterized by marrow failure and cancer susceptibility. In FA mice, metformin improves blood counts and delays tumor development. We conducted a single institution study of metformin in nondiabetic patients with FA to determine feasibility and tolerability of metformin treatment and to assess for improvement in blood counts.
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- Shwachman-Diamond syndrome (SDS) is a rare inherited condition leading to bone marrow failure and an increased risk of leukemia, with a study analyzing 153 subjects to better understand age-related blood count changes.
- The study found that neutrophil and hemoglobin counts increased with age until 18, while platelet counts and marrow cellularity declined, indicating complex hematologic behaviors in SDS.
- Severe bone marrow failure requiring transplantation was common early in life, and 17% of subjects eventually developed myeloid malignancies, highlighting the need for careful monitoring of hematologic issues in SDS patients.
Background: Since the end of the industrial revolution, advances in public health and clinical medicine have contributed to dramatic decreases in infant and childhood mortality, improvements in health-related quality of life (HRQoL), increases in overall life expectancy (LE), and rectangularization of survival curves.
Objectives: In this article, we focus on disability that has occurred with the overall lengthening of LE in many populations and the implications this has for decreased HRQoL.
Methods: We utilize the concept of rectangularization of population survival to depict the rising prevalence of disability associated with increased LE, especially among racial and ethnic minorities and people of low socioeconomic status (SES) and relate this to HRQoL.
To understand the mechanisms that mediate germline genetic leukemia predisposition, we studied the inherited ribosomopathy Shwachman-Diamond syndrome (SDS), a bone marrow failure disorder with high risk of myeloid malignancies at an early age. To define the mechanistic basis of clonal hematopoiesis in SDS, we investigate somatic mutations acquired by patients with SDS followed longitudinally. Here we report that multiple independent somatic hematopoietic clones arise early in life, most commonly harboring heterozygous mutations in EIF6 or TP53.
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- This study investigates the clinical characteristics and outcomes of patients with myelodysplastic syndrome or acute myeloid leukaemia who also have Shwachman-Diamond syndrome, a genetic disorder associated with a high risk of blood cancers.
- Conducted as a multicenter, retrospective cohort study, researchers reviewed medical records from 17 centers across the USA and Canada to gather data on eligible patients between 2001 and 2017.
- The findings reveal that out of 37 initially identified patients, 36 were included in the final analysis, with those presenting myelodysplastic syndrome having a median overall survival of 7.7 years, while those with acute myeloid leukaemia had much lower survival rates.