1.Constitutional Chromosome 21 Abnormality in B-ALL with iAMP21 in a Patient Developing Treatment-Related Myelodysplastic Syndrome
Inhwa KIM ; Su Hyun YOON ; Sunghan KANG ; Kyung-Nam KOH ; Mi Young KIM ; Young-Uk CHO ; Sang-Hyun HWANG ; Seongsoo JANG ; Eul-Ju SEO ; Beom Hee LEE ; Sunghee MIN ; Hyunwoo BAE ; Ho Joon IM ; Hyery KIM
Clinical Pediatric Hematology-Oncology 2025;32(1):23-28
The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.
2.Constitutional Chromosome 21 Abnormality in B-ALL with iAMP21 in a Patient Developing Treatment-Related Myelodysplastic Syndrome
Inhwa KIM ; Su Hyun YOON ; Sunghan KANG ; Kyung-Nam KOH ; Mi Young KIM ; Young-Uk CHO ; Sang-Hyun HWANG ; Seongsoo JANG ; Eul-Ju SEO ; Beom Hee LEE ; Sunghee MIN ; Hyunwoo BAE ; Ho Joon IM ; Hyery KIM
Clinical Pediatric Hematology-Oncology 2025;32(1):23-28
The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.
3.Constitutional Chromosome 21 Abnormality in B-ALL with iAMP21 in a Patient Developing Treatment-Related Myelodysplastic Syndrome
Inhwa KIM ; Su Hyun YOON ; Sunghan KANG ; Kyung-Nam KOH ; Mi Young KIM ; Young-Uk CHO ; Sang-Hyun HWANG ; Seongsoo JANG ; Eul-Ju SEO ; Beom Hee LEE ; Sunghee MIN ; Hyunwoo BAE ; Ho Joon IM ; Hyery KIM
Clinical Pediatric Hematology-Oncology 2025;32(1):23-28
The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.
4.Constitutional Chromosome 21 Abnormality in B-ALL with iAMP21 in a Patient Developing Treatment-Related Myelodysplastic Syndrome
Inhwa KIM ; Su Hyun YOON ; Sunghan KANG ; Kyung-Nam KOH ; Mi Young KIM ; Young-Uk CHO ; Sang-Hyun HWANG ; Seongsoo JANG ; Eul-Ju SEO ; Beom Hee LEE ; Sunghee MIN ; Hyunwoo BAE ; Ho Joon IM ; Hyery KIM
Clinical Pediatric Hematology-Oncology 2025;32(1):23-28
The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.
5.Relationship of MicroRNA according to Immune Components of Breast Milk in Korean Lactating Mothers
You Jin CHOI ; Da Hye LEE ; Jeonglyn SONG ; Ki-Uk KIM ; Hyeyoung MIN ; Sung-Hoon CHUNG ; Tae Hyeong KIM ; Chae-Young KIM ; Insoo KANG ; Na Mi LEE ; Dae Yong YI
Pediatric Gastroenterology, Hepatology & Nutrition 2024;27(5):322-331
Purpose:
Human breast milk (HBM) contains immune components that produced and delivered from the mother along with nutrients necessary for the baby. MicroRNA (miRNA) is a small noncoding RNA molecule, that is used as an ideal biomarker for diagnosis and prognosis of various diseases and are more abundant in HBM. We analyzed and compared the immune components and miRNAs of HBM.
Methods:
HBM were collected from 20 healthy breastfeeding mothers. We measured the amount of lactoferrin, lysozyme, and immunoglobulin A (IgA) and extracted the miRNAs from each breast milk samples. Next, the top 5 and bottom 5 expressed miRNAs were compared and analyzed based on the amounts of the 3 immune components.
Results:
The mean levels and ranges of lactoferrin, lysozyme, and IgA were 6.33 (2.24–14.77)×106 ng/mL, 9.90 (1.42–17.59)×107 pg/mL, and 6.64 (0.48–20.01)×105 ng/mL, respectively. The miRNAs concentration per 1 mL of skim milk was 40.54 (14.95–110.01) ng/μL. Comparing the bottom 5 and top 5 groups of each immune component, 19 miRNAs were significantly upregulated (6, 9, and 4 targeting lactoferrin, lysozyme, and IgA, respectively) and 21 were significantly downregulated (4, 9, and 8 targeting lactoferrin, lysozyme, and IgA, respectively). There were no miRNAs that were expressed significantly higher or lower in common to all 3 components.However, 2 and 3 miRNAs were commonly overexpressed and underexpressed, in the top 5 groups of lysozyme and IgA concentrations.
Conclusion
We identified the immune components and miRNAs in breast milk and found that each individual has different ingredients.
6.Klebsiella pneumoniae-Induced Emphysematous Prostatic Abscess Accompanied by a Spinal Cord Infarction: Case Report
Seong Uk JEH ; Min Sung CHOI ; Chang Seok KANG ; Dae Hyun KIM ; Jae Hwi CHOI ; See Min CHOI ; Sung Chul KAM ; Jeong Seok HWA ; Jae Seog HYUN
Urogenital Tract Infection 2024;19(3):104-108
Various strains can be found in emphysematous prostatic abscesses (EPAs), but the most frequent causative organism is Klebsiella pneumoniae . Hypervirulent K. pneumoniae can disseminate to distant sites by forming a muco-polysaccharide network outside the capsule. Here, we present the first case of K. pneumoniae in an EPA accompanied by a spinal cord infarction. A 65-year-old man was referred to our hospital due to sudden-onset paraplegia after a 5-day history of fever, myalgia, and voiding difficulty. Abdominal computed tomography revealed a collection of air pockets in the prostate, and diffusion-weighted magnetic resonance imaging showed high signal intensity in the thoracic spinal cord. The patient was initially treated with antibiotics and surgical drainage. On the third hospital day, therapeutic heparin was added after discussion with a neurologist. The patient had no inflammatory symptoms, experienced some improvement in paraplegia, and was discharged on the 14th hospital day. This study adhered to the case report guidelines.
7.Occupation classification model based on DistilKoBERT: using the 5th and 6th Korean Working Condition Surveys
Tae-Yeon KIM ; Seong-Uk BAEK ; Myeong-Hun LIM ; Byungyoon YUN ; Domyung PAEK ; Kyung Ehi ZOH ; Kanwoo YOUN ; Yun Keun LEE ; Yangho KIM ; Jungwon KIM ; Eunsuk CHOI ; Mo-Yeol KANG ; YoonHo CHO ; Kyung-Eun LEE ; Juho SIM ; Juyeon OH ; Heejoo PARK ; Jian LEE ; Jong-Uk WON ; Yu-Min LEE ; Jin-Ha YOON
Annals of Occupational and Environmental Medicine 2024;36(1):e19-
Accurate occupation classification is essential in various fields, including policy development and epidemiological studies. This study aims to develop an occupation classification model based on DistilKoBERT. This study used data from the 5th and 6th Korean Working Conditions Surveys conducted in 2017 and 2020, respectively. A total of 99,665 survey participants, who were nationally representative of Korean workers, were included. We used natural language responses regarding their job responsibilities and occupational codes based on the Korean Standard Classification of Occupations (7th version, 3-digit codes). The dataset was randomly split into training and test datasets in a ratio of 7:3. The occupation classification model based on DistilKoBERT was fine-tuned using the training dataset, and the model was evaluated using the test dataset. The accuracy, precision, recall, and F1 score were calculated as evaluation metrics. The final model, which classified 28,996 survey participants in the test dataset into 142 occupational codes, exhibited an accuracy of 84.44%. For the evaluation metrics, the precision, recall, and F1 score of the model, calculated by weighting based on the sample size, were 0.83, 0.84, and 0.83, respectively. The model demonstrated high precision in the classification of service and sales workers yet exhibited low precision in the classification of managers. In addition, it displayed high precision in classifying occupations prominently represented in the training dataset. This study developed an occupation classification system based on DistilKoBERT, which demonstrated reasonable performance. Despite further efforts to enhance the classification accuracy, this automated occupation classification model holds promise for advancing epidemiological studies in the fields of occupational safety and health.
8.Relationship of MicroRNA according to Immune Components of Breast Milk in Korean Lactating Mothers
You Jin CHOI ; Da Hye LEE ; Jeonglyn SONG ; Ki-Uk KIM ; Hyeyoung MIN ; Sung-Hoon CHUNG ; Tae Hyeong KIM ; Chae-Young KIM ; Insoo KANG ; Na Mi LEE ; Dae Yong YI
Pediatric Gastroenterology, Hepatology & Nutrition 2024;27(5):322-331
Purpose:
Human breast milk (HBM) contains immune components that produced and delivered from the mother along with nutrients necessary for the baby. MicroRNA (miRNA) is a small noncoding RNA molecule, that is used as an ideal biomarker for diagnosis and prognosis of various diseases and are more abundant in HBM. We analyzed and compared the immune components and miRNAs of HBM.
Methods:
HBM were collected from 20 healthy breastfeeding mothers. We measured the amount of lactoferrin, lysozyme, and immunoglobulin A (IgA) and extracted the miRNAs from each breast milk samples. Next, the top 5 and bottom 5 expressed miRNAs were compared and analyzed based on the amounts of the 3 immune components.
Results:
The mean levels and ranges of lactoferrin, lysozyme, and IgA were 6.33 (2.24–14.77)×106 ng/mL, 9.90 (1.42–17.59)×107 pg/mL, and 6.64 (0.48–20.01)×105 ng/mL, respectively. The miRNAs concentration per 1 mL of skim milk was 40.54 (14.95–110.01) ng/μL. Comparing the bottom 5 and top 5 groups of each immune component, 19 miRNAs were significantly upregulated (6, 9, and 4 targeting lactoferrin, lysozyme, and IgA, respectively) and 21 were significantly downregulated (4, 9, and 8 targeting lactoferrin, lysozyme, and IgA, respectively). There were no miRNAs that were expressed significantly higher or lower in common to all 3 components.However, 2 and 3 miRNAs were commonly overexpressed and underexpressed, in the top 5 groups of lysozyme and IgA concentrations.
Conclusion
We identified the immune components and miRNAs in breast milk and found that each individual has different ingredients.
9.Klebsiella pneumoniae-Induced Emphysematous Prostatic Abscess Accompanied by a Spinal Cord Infarction: Case Report
Seong Uk JEH ; Min Sung CHOI ; Chang Seok KANG ; Dae Hyun KIM ; Jae Hwi CHOI ; See Min CHOI ; Sung Chul KAM ; Jeong Seok HWA ; Jae Seog HYUN
Urogenital Tract Infection 2024;19(3):104-108
Various strains can be found in emphysematous prostatic abscesses (EPAs), but the most frequent causative organism is Klebsiella pneumoniae . Hypervirulent K. pneumoniae can disseminate to distant sites by forming a muco-polysaccharide network outside the capsule. Here, we present the first case of K. pneumoniae in an EPA accompanied by a spinal cord infarction. A 65-year-old man was referred to our hospital due to sudden-onset paraplegia after a 5-day history of fever, myalgia, and voiding difficulty. Abdominal computed tomography revealed a collection of air pockets in the prostate, and diffusion-weighted magnetic resonance imaging showed high signal intensity in the thoracic spinal cord. The patient was initially treated with antibiotics and surgical drainage. On the third hospital day, therapeutic heparin was added after discussion with a neurologist. The patient had no inflammatory symptoms, experienced some improvement in paraplegia, and was discharged on the 14th hospital day. This study adhered to the case report guidelines.
10.Relationship of MicroRNA according to Immune Components of Breast Milk in Korean Lactating Mothers
You Jin CHOI ; Da Hye LEE ; Jeonglyn SONG ; Ki-Uk KIM ; Hyeyoung MIN ; Sung-Hoon CHUNG ; Tae Hyeong KIM ; Chae-Young KIM ; Insoo KANG ; Na Mi LEE ; Dae Yong YI
Pediatric Gastroenterology, Hepatology & Nutrition 2024;27(5):322-331
Purpose:
Human breast milk (HBM) contains immune components that produced and delivered from the mother along with nutrients necessary for the baby. MicroRNA (miRNA) is a small noncoding RNA molecule, that is used as an ideal biomarker for diagnosis and prognosis of various diseases and are more abundant in HBM. We analyzed and compared the immune components and miRNAs of HBM.
Methods:
HBM were collected from 20 healthy breastfeeding mothers. We measured the amount of lactoferrin, lysozyme, and immunoglobulin A (IgA) and extracted the miRNAs from each breast milk samples. Next, the top 5 and bottom 5 expressed miRNAs were compared and analyzed based on the amounts of the 3 immune components.
Results:
The mean levels and ranges of lactoferrin, lysozyme, and IgA were 6.33 (2.24–14.77)×106 ng/mL, 9.90 (1.42–17.59)×107 pg/mL, and 6.64 (0.48–20.01)×105 ng/mL, respectively. The miRNAs concentration per 1 mL of skim milk was 40.54 (14.95–110.01) ng/μL. Comparing the bottom 5 and top 5 groups of each immune component, 19 miRNAs were significantly upregulated (6, 9, and 4 targeting lactoferrin, lysozyme, and IgA, respectively) and 21 were significantly downregulated (4, 9, and 8 targeting lactoferrin, lysozyme, and IgA, respectively). There were no miRNAs that were expressed significantly higher or lower in common to all 3 components.However, 2 and 3 miRNAs were commonly overexpressed and underexpressed, in the top 5 groups of lysozyme and IgA concentrations.
Conclusion
We identified the immune components and miRNAs in breast milk and found that each individual has different ingredients.

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