1.Association of ASXL1 and RUNX1 Variants with Splenomegaly in Myelodysplastic Syndromes Based on Next-generation Sequencing and Computed Tomography Data: A Retrospective Study
Youngjae HUH ; Jaebon LEE ; Inha HWANG ; Ye Eun YOON ; Eun Jin LEE ; Taekyu LIM ; Jae Won YUN
Annals of Laboratory Medicine 2026;46(1):104-109
Although splenomegaly is typically uncommon in myelodysplastic syndromes (MDS), it is associated with reduced engraftment rates and poor survival outcomes. Despite its clinical significance, the incidence and genetic associations of splenomegaly in MDS remain understudied. To address this, we conducted a retrospective study of 27 patients with MDS at the Veterans Health Service Medical Center in South Korea. Based on computed tomography scan evaluation, splenomegaly was identified in 26% of patients with MDS, and significant associations with variants in ASXL1 (P = 0.0089 for null and missense/inframe variants) and RUNX1 (P = 0.042 for null variants) were observed, suggesting that these variants are linked to an increased risk of splenomegaly. Notably, one patient with ASXL1 and TET2 variants developed severe splenomegaly (spleen size, 29 cm) following granulocyte colony-stimulating factor (G-CSF) treatment, requiring splenectomy. This case suggests a potential interaction between specific genetic variants and G-CSF sensitivity, potentially exacerbating splenomegaly. Our findings suggest that the incidence of splenomegaly in patients with MDS, including mild cases, is likely underestimated and that ASXL1 and RUNX1 variants increase the risk of splenomegaly. Furthermore, careful monitoring for the development of severe splenomegaly during G-CSF treatment may be warranted in genetically susceptible individuals with MDS.
2.Dementia Mortality and Related Clinical Factors at a Nursing Home.
Youngjae HWANG ; Kyeonghyeong JHO ; Jinsook CHOI ; Youngmin SHIN
Journal of Korean Geriatric Psychiatry 2002;6(2):110-116
OBJECTIVE: This study was designed to evaluate the cause of mortality in patients with dementia, including Alzheimer's disease and multi-infarct dementia, and those without dementia. METHOD: Hospital records of geriatric patients (> or =65) in nursing home having dementia were reviewed retrospectively for 6 years. The total number of patients was 351 (the number of demented patients was 146 and those without dementia was 68). Of the ones with dementia, 146 had dementia of Alzheimer's type, 101 patients had vascular dementia, and 36 patients had non-specific dementia. This study focused on the different complications associated with Alzheimer's disease and cerebrovascular dementia. RESULT: 1) The average age at death of demented patient is higher than the non-demented population;however, there is no difference in age between Alzheimer's disease and vascular dementia. 2) There is no difference in time spent in the nursing home among the non-demented group, Alzheimer's disease and vascular dementia group from admission to death. The life expectancy of male patients with Alzheimer's disease after admission to the nursing home is significant shorter than their female counterpart. 3) Patients with vascular dementia have a higher incidence of hypertension, atherosclerotic disease, and diabetes than the Alzheimer's patients. 4) The main overall causes of the death (in nursing home patients) are infection and sepsis. In Alzheimer's disease's, sepsis is the major cause of death, while in vascular dementia, atherosclerotic disease is the number one cause. CONCLUSION: Knowledge of the causes of the death in demented patients may help the management of the possible complications associated with the different types of dementia. However, long-term research is then needed to analyze the survival rates of demented nursing home patients.
Alzheimer Disease
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Cause of Death
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Dementia*
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Dementia, Multi-Infarct
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Dementia, Vascular
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Female
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Hospital Records
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Humans
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Hypertension
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Incidence
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Life Expectancy
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Male
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Mortality*
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Nursing Homes*
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Nursing*
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Retrospective Studies
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Sepsis
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Survival Rate

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