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.Postmortem Computed Tomography – Based Body Weight Estimation in Korean Infants Using Volume and Multiplication Factors
Jin-Haeng HEO ; Seon Jung JANG ; Jeong-hwa KWON ; Sang-Beom IM ; Joo-Young NA ; Yongsu YOON ; Young San KO ; Minju LEE ; Se-Min OH ; Sung Wook CHOI ; Sookyoung LEE
Korean Journal of Legal Medicine 2024;48(3):55-60
Postmortem computed tomography (PMCT) is used in forensic medicine worldwide due to its ability to non-invasively visualize injuries, hemorrhage, and estimate volume. In the autopsy of infants, assessing nutritional conditions such as weight is crucial for identifying neglect. This study aims to evaluate the usefulness of retrospectively estimating the weight of Korean infants using PMCT-based volume and multiplication factors, even when the body has been cremated. A total of 44 cases of infant death (under 12 months) were analyzed. PMCT images were obtained before autopsy. Autopsy records and documentation provided by the police at the time of autopsy were reviewed to determine the weight (g) of the infant. PMCT-based infant volumes (mL) were estimated using a three-dimensional semi-automatic segmentation method. Multiplication factors (g/mL) were calculated by dividing the weight recorded at autopsy by the PMCT-based volume, yielding a mean of 1.047 g/mL, ranging from 1.014 g/mL to 1.085 g/mL. The mean absolute error compared to weights recorded at autopsy was 95 g. Significant discrepancies were observed between weights recorded at the scene or medical center and those measured at autopsy. This study demonstrates that PMCT-based weight estimation for Korean infants is a reliable method and has the potential for retrospectively validating incorrect weight measurements and addressing inconsistencies in recorded weight data.
6.Methyl Salicylate Poisoning Due to Suicidal Ingestion: A Case Report and Literature Review
Tae Young YU ; Jeong-hwa KWON ; Suk Hoon HAM ; Sang-Beom IM ; Young-Il PARK ; Young San KO ; Jin-Haeng HEO ; Sin Eun KIM ; Seon Jung JANG
Korean Journal of Legal Medicine 2024;48(1):23-25
Methyl salicylate is widely used in various topical products, including sports creams, ointments, patches, and oral hygiene products. These products are mainly used for localized treatment of musculoskeletal pain. Given their intended topical application, their ingestion can result in salicylic acid poisoning due to their high concentrations of methyl salicylate. Symptoms of salicylic acid poisoning may include dizziness, vomiting, hallucinations, seizures, and, in severe cases, unconsciousness, respiratory failure, and circulatory disorders. We report a case of a 71-year-old male who ingested Mensolatum Lotion to commit suicide and died.
7.The Significance of Detecting Diatoms in Spleen Tissue for the Postmortem Diagnosis of Drowning
Young San KO ; Suk Hoon HAM ; Jin-Haeng HEO ; Sang-Beom IM ; Young-Il PARK ; Jeong-hwa KWON ; Kyung Ryoul KIM ; Ho Suk SONG ; Seon Jung JANG
Korean Journal of Legal Medicine 2024;48(1):1-6
The aim of this study was to elucidate the diatomological investigation and the forensic role of spleen tissue in cases of drowning or non-drowning. Specimens of spleen tissue and other organ tissue from 136 drowning cases, as well as 21 cases where death resulted from causes other than drowning (acting as controls), were examined for the presence of diatoms. The diatom test was performed on all cases using the acid digestion method, involving fumed nitric acid on a hot sand bath. The presence of diatoms in spleen tissue was observed in drowning cases but not in non-drowning cases. Diatoms in spleen tissue showed a positive association with drowning (P=0.011). Among the 136 drowning cases, diatoms were most frequently found in lung tissue (n=134, 99%), followed by spleen (n=33, 24%), kidney (n=28, 21%), liver (n=27, 20%), and heart (n=22, 16%) tissues. Moreover, in 95 cases where putrefaction did not progress, diatoms were detected in spleen tissues in 14 cases, indicating that the highest detection rate among other enclosed organ tissues, excluding lung tissues. Furthermore, a significant correlation was observed between the presence of diatoms in spleen tissue and those in enclosed organs, including the liver, kidney, and heart, but not in lung tissues. Our results revealed a significant correlation between the presence of diatoms in spleen tissue and drowning. Thus, the present study provides evidence that the presence of diatoms in spleen tissue may be a reliable indicator of death by drowning.
8.U-Net-Based Automatic Segmentation of Sphenoid Sinus Fluid in Drowning Cases Using Postmortem CT Images:A Feasibility Study
Jin-Haeng HEO ; Seon Jung JANG ; Jeong-hwa KWON ; Young San KO ; Sang-Beom IM ; Sookyoung LEE ; In-Soo SEO ; Joo-Young NA ; Yeji KIM ; Yongsu YOON
Korean Journal of Legal Medicine 2024;48(1):7-13
Detecting sphenoid sinus fluid (SSF) is an additional finding in autopsies for diagnosing drowning. SSF can provide additional forensic evidence through laboratory tests such as diatom and electrolyte analyses. If drowning is suspected, accurately assessing the presence and volume of SSF during an autopsy is crucial. Utilizing postmortem computed tomography (PMCT) images could aid in accurately sampling SSF. Accurately segmenting the region of interest is essential for volume analysis using computed tomography images. However, manual segmentation techniques are labor-intensive and time-consuming, and their success depends on the experience of the observer. Therefore, this study aimed to develop a U-Net–based deep learning model for the automatic segmentation of SSF in drowning cases using PMCT images and to evaluate the performance of the model. We retrospectively reviewed 34 drowning cases in which both PMCT scans and forensic autopsies were performed at our institution. The U-Net architecture of deep learning was used for automatic segmentation. The proposed model achieved the Dice similarity coefficient (DSC) and Intersection over Union (IoU) of a maximum of 95.85% and 92.03%, a minimum of 0% and 0%, and an average of 77.15% and 67.18%, respectively. Although the average DSC and IoU did not show high similarity, this study showed that PMCT images can be used for automatic segmentation of SSF in drowning cases, which could improve the performance with sufficient dataset acquisition and further model training.
9.Quality of Acute Stroke Care within Emergency Medical Service System in Korea: Proposal for Severe Emergency Medical Center
Kyung Bok LEE ; Ji Sung LEE ; Jeong-Yoon LEE ; Jun Yup KIM ; Han-Yeong JEONG ; Seong-Eun KIM ; Jonguk KIM ; Do Yeon KIM ; Keon-Joo LEE ; Jihoon KANG ; Beom Joon KIM ; Tae Jung KIM ; Sang Joon AN ; Jang-Hyun BAEK ; Seongheon KIM ; Hyun-Wook NAH ; Jong Yun LEE, ; Jee-Hyun KWON ; Seong Hwan AHN ; Keun-Hwa JUNG ; Hee-Kwon PARK ; Tai Hwan PARK ; Jong-Moo PARK ; Yong-Jin CHO ; Im Seok KOH ; Soo Joo LEE ; Jae-Kwan CHA ; Joung-Ho RHA ; Juneyoung LEE ; Boung Chul LEE ; In Ok BAE ; Gui Ok KIM ; Hee-Joon BAE
Journal of the Korean Neurological Association 2023;41(1):18-30
Background:
Korea recently established 70 emergency medical service areas. However, there are many concerns that medical resources for stroke could not be evenly distributed through the country. We aimed to compare the treatment quality and outcomes of acute stroke among the emergency medical service areas.
Methods:
This study analyzed the data of 28,800 patients admitted in 248 hospitals which participated in the 8th acute stroke quality assessment by Health Insurance Review and Assessment Service. Individual hospitals were regrouped into emergency service areas according to the address of the location. Assessment indicators and fatality were compared by the service areas. We defined the appropriate hospital by the performance of intravenous thrombolysis.
Results:
In seven service areas, there were no hospitals which received more than 10 stroke patients for 6 months. In nine service areas, there were no patients who underwent intravenous thrombolysis (IVT). Among 167 designated emergency medical centers, 50 hospitals (29.9%) responded that IVT was impossible 24 hours a day. There are 97 (39.1%) hospitals that meet the definitions of appropriate hospital. In 23 service areas (32.9%) had no appropriate or feasible hospitals. The fatality of service areas with stroke centers were 6.9% within 30 days and 15.6% within 1 year from stroke onset than those without stroke centers (7.7%, 16.9%, respectively).
Conclusions
There was a wide regional gap in the medical resource and the quality of treatments for acute stroke among emergency medical service areas in Korea. The poststroke fatality rate of the service areas which have stroke centers or appropriate hospitals were significantly low.
10.Examination of the Cerebellomedullary Cistern Using Postmortem Computed Tomography in Various Types of Intracranial Hemorrhage
Jin-Haeng HEO ; Sang-Beom IM ; Seon Jung JANG ; Jeong-Hwa KWON ; Joo-Young NA
Korean Journal of Legal Medicine 2023;47(4):105-109
Intracranial hemorrhage is a major cause of sudden unexpected death and its identification is important for death investigations. Cisternal puncture of the cerebellomedullary cistern (CMC) can be used to identify intracranial hemorrhage during postmortem examination. Intracranial hemorrhage comprises various types of hemorrhage, and the possibility of hemorrhage identification by cisternal puncture can differ according to the type of intracranial hemorrhage. Postmortem computed tomography (PMCT) is non-invasive and can be performed before autopsy. In this study, we aimed to identify the hemorrhage in the CMC using PMCT in cases of various intracranial hemorrhage. PMCT was performed before the autopsy. Autopsy reports and PMCT were retrospectively reviewed for 108 cases of intracranial hemorrhage confirmed by conventional autopsy. Hemorrhagic regions showed ≥60 Hounsfield units on PMCT. Hemorrhage in the CMC was identified in 42.6% (46/108) by PMCT and was frequently identified in the cases of basal subarachnoid hemorrhage (SAH) (19/21). Hemorrhage in the CMC was identified in approximately 50% of patients with non-basal SAH and intracerebral hemorrhage. Detection of hemorrhage in the CMC by PMCT is hindered by several factors, such as dental artifacts. This study does not guarantee the usefulness of postmortem cisternal puncture. However, this study verified hemorrhage in the CMC according to the various types of intracranial hemorrhages using PMCT and showed its possibilities and limitations.

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