1.Erratum: Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders
Young Eun KIM ; Chang Seok KI ; Mi Ae JANG
Annals of Laboratory Medicine 2019;39(6):606-606
This erratum is being published to revise the website address of the Korean Reference Genome Database (KRGDB) and correct two typographical errors in the article.
2.Recent insights regarding the molecular basis of myeloproliferative neoplasms
The Korean Journal of Internal Medicine 2020;35(1):1-11
Myeloproliferative neoplasms (MPNs) are a heterogeneous group of clonal disorders characterized by the overproduction of mature blood cells that have an increased risk of thrombosis and progression to acute myeloid leukemia. Next-generation sequencing studies have provided key insights regarding the molecular mechanisms of MPNs. MPN driver mutations in genes associated with the JAK-STAT pathway include JAK2 V617F, JAK2 exon 12 mutations and mutations in MPL, CALR, and CSF3R. Cooperating driver genes are also frequently detected and also mutated in other myeloid neoplasms; these driver genes are involved in epigenetic methylation, messenger RNA splicing, transcription regulation, and signal transduction. In addition, other genetic factors such as germline predisposition, order of mutation acquisition, and variant allele frequency also influence disease initiation and progression. This review summarizes the current understanding of the genetic basis of MPN, and demonstrates how molecular pathophysiology can improve both our understanding of MPN heterogeneity and clinical practice.
4.Development of a Scale to Measure Self-Care for Korean Patients with Chronic Obstructive Pulmonary Disease.
Jeong Ja JUN ; Ae Kyung KIM ; Sang Ok CHOI ; Jung Hee AE ; Mi Kyung CHOI ; Sun A JANG
Journal of Korean Academy of Nursing 2003;33(1):9-16
PURPOSE: The objective of this study was the development and validation of a scale to measure the self-care of patients with chronic obstructive pulmonary disease(COPD) in Korea. METHOD: Self-care scale was developed based on the self-care activities patients had to carry out in order to manage their COPD. The original scale contained 34 items rated along a five-point Likert scale and was reviewed by 18 professional nurses and 10 Korean patients with COPD for content validity. Subsequently, patients with COPD were asked to complete this 23-item scale and further tests were done with the 125 useable responses. RESULT: Factor analysis identified eight factors- "maintaining a clean air way", "taking medication", "support from family", "preventing infection", "managing symptoms", "breathing exercising", and "taking in nutrition". The internal consistency of the total scale was Cronbach's alpha=0.7226. These eight factors explained 60.8% of total variance. There was correlation among Korean Self-Care Scale score, administration level, and knowledge level but there was no correlation to patients' satisfaction with medical services. CONCLUSION: The 23 item questionnaire positively identified 8 areas defined important for COPD patients. Further studies are required to see how these can be integrated into patient education.
5.Correspondence: Response to “Evaluating the Cumulative Impact of Ionizing Radiation Exposure With Diagnostic Genetics”
Mi Ae JANG ; Eun Ae HAN ; Hee Bong SHIN ; You Kyoung LEE
Annals of Laboratory Medicine 2019;39(4):419-420
No abstract available.
Radiation, Ionizing
6.Clinical Utility of a Diagnostic Approach to Detect Genetic Abnormalities in Multiple Myeloma: A Single Institution Experience.
Hyun Ae JUNG ; Mi Ae JANG ; Kihyun KIM ; Sun Hee KIM
Annals of Laboratory Medicine 2018;38(3):196-203
BACKGROUND: The identification of genetic abnormalities in patients with multiple myeloma (MM) has gained emphasis because genetics-based risk stratification significantly affects overall survival (OS). We investigated genetic abnormalities using conventional cytogenetics and FISH and analyzed the prognostic significance of the identified additional abnormalities in MM. METHODS: In total, 267 bone marrow samples were collected from February 2006 to November 2013 from patients who were newly diagnosed as having MM in a tertiary-care hospital in Korea. The clinical and laboratory data were retrospectively obtained. Cox proportional hazard regression was used to examine the relationship between clinical/genetic factors and survival outcome, using univariate and multivariate models. RESULTS: Using conventional cytogenetic analysis and FISH, 45% (120/267) and 69% (183/267) patients, respectively, were identified to harbor genetic abnormalities. In the univariate analysis, the following genetic variables were identified to affect OS: abnormal karyotype (P < 0.001), aneuploidy (P=0.046), −13 or del(13q) (P=0.002), 1q amplification (P < 0.001), and t(4;14) (P=0.020). In the multivariate analysis, the presence of −13 or del(13q) was the only significant genetic factor affecting OS (P=0.012) with a hazard ratio (HR) of 2.131 (95% confidence interval [CI], 1.185–3.832) in addition to the clinical factor of age (>65 years) (P=0.013) with an HR of 2.505 (95% CI, 1.218–5.151). CONCLUSIONS: Our findings highlight the importance of applying a comprehensive approach for detecting genetic abnormalities, which could be closely associated with the prognostic significance of MM.
Abnormal Karyotype
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Aneuploidy
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Bone Marrow
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Cytogenetic Analysis
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Cytogenetics
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Humans
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Korea
;
Multiple Myeloma*
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Multivariate Analysis
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Prognosis
;
Retrospective Studies
7.Current Status of Self-management and Barriers in Elderly Diabetic Patient.
Gyong Ae CHOI ; Soo Mi JANG ; Hong Woo NAM
Korean Diabetes Journal 2008;32(3):280-289
BACKGROUND: Diabetes has a critical effect on elderly diabetic patients' quality of life. Elderly diabetic patients have many difficulties in diabetes self-management because their physical, psychological and social functions are decreased as a result of the aging process. Therefore, we evaluated the current status of self-management and barriers in elderly diabetic patients METHODS: The sample was 124 elderly diabetic patients (over 61 years) who visited a hospital and two senior welfare centers in Seoul from July to August 2006. The results of the study were analyzed by descriptive statistics, ANOVA, T-test, and hierarchical regression. RESULTS: 1) Diabetes self-management was composed of insulin injection, diet, exercise, foot management, smoking and drinking alcohol. An average score of self-management in the elderly diabetic patients was 4.5784. In demographic variables, only job status showed a significant effect on self-management. 2) Barriers such as 'forgetting taking diet and medication', 'being interrupted by others', and 'lack of family and social support' were significant factors in diabetes self-management. 3) These barriers for diabetes self-management were still significant in the case of controlling demographic and clinical variables. CONCLUSION: Diabetic educator should identify the significant factors that affect patient's self-management such as whether they have a full-time job, or the type of their job. In addition, diabetes education should focus on assertiveness training to deal with various interpersonal barriers and empowerment for enhancing patient's self-efficacy. These approaches would benefit patients who experience barriers of diabetes self-management
Aged
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Aging
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Assertiveness
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Diet
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Drinking
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Foot
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Humans
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Insulin
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Power (Psychology)
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Quality of Life
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Self Care
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Smoke
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Smoking
8.Advances in the Diagnosis of Myeloproliferative Neoplasms.
Korean Journal of Medicine 2016;90(4):281-287
Philadelphia chromosome-negative classical myeloproliferative neoplasms include polycythemia vera, essential thrombocythemia, and primary myelofibrosis. In recent years, there have been major advances in our understanding of the molecular pathophysiology of these rare subgroups of myeloproliferative neoplasms. The World Health Organization diagnostic criteria were revised in 2008, and incorporated new somatic mutations of JAK2 V617F, found in most patients with polycythemia vera, essential thrombocythemia, or primary myelofibrosis. Subsequently, other mutations (MPL W515 and CALR) were discovered and this led to substantial changes in the diagnosis and treatment guidelines. This article reviews the diagnostic criteria for Philadelphia chromosome-negative classical myeloproliferative neoplasms, and changes in the diagnostic algorithm for clinical practice in Korea.
Diagnosis*
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Humans
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Korea
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Polycythemia Vera
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Primary Myelofibrosis
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Thrombocythemia, Essential
;
World Health Organization
9.Major Changes to the 2017 Revision of the World Health Organization Classification of Myeloproliferative Neoplasms.
Korean Journal of Medicine 2018;93(4):351-359
The World Health Organization (WHO) Classification of Tumors of Haematopoietic and Lymphoid Tissues was recently published in a revised fourth edition. The categories of myeloproliferative neoplasms (MPNs) have not significantly changed since the 2008 fourth edition of the classification; however, newly discovered mutations including CALR and CSF3R and improved characterizations and standardizations of morphological features of some entities, particularly BCR-ABL1-negative MPNs, have impacted the diagnostic criteria of disease entities, increasing the reliability and reproducibility of diagnoses. The 2017 revised edition attempts to incorporate new clinical, prognostic, morphologic, and genetic data that have emerged since the last edition. This article reviews the major changes in the classification and their rationale for MPN classification within the revised 2017 WHO system.
Classification
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Diagnosis
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Global Health*
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Lymphoid Tissue
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Myeloproliferative Disorders
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Polycythemia Vera
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Primary Myelofibrosis
;
Thrombocythemia, Essential
;
World Health Organization*