1.Profiling of Anti-Signal-Recognition Particle Antibodies and Clinical Characteristics in South Korean Patients With Immune-Mediated Necrotizing Myopathy
Soo-Hyun KIM ; Yunjung CHOI ; Eun Kyoung OH ; Ichizo NISHINO ; Shigeaki SUZUKI ; Bum Chun SUH ; Ha Young SHIN ; Seung Woo KIM ; Byeol-A YOON ; Seong-il OH ; Yoo Hwan KIM ; Hyunjin KIM ; Young-Min LIM ; Seol-Hee BAEK ; Je-Young SHIN ; Hung Youl SEOK ; Seung-Ah LEE ; Young-Chul CHOI ; Hyung Jun PARK
Journal of Clinical Neurology 2025;21(1):31-39
Background:
and Purpose This study evaluated the diagnostic utility of an anti-signal-recognition particle 54 (anti-SRP54) antibody-based enzyme-linked immunosorbent assay (ELISA) as well as the clinical, serological, and pathological characteristics of patients with SRP immune-mediated necrotizing myopathy (IMNM).
Methods:
We evaluated 87 patients with idiopathic inflammatory myopathy and 107 healthy participants between January 2002 and December 2023. The sensitivity and specificity of the ELISA for anti-SRP54 antibodies were assessed, and the clinical profiles of patients with antiSRP54 antibodies were determined.
Results:
The ELISA for anti-SRP54 antibodies had a sensitivity and specificity of 88% and 99%, respectively, along with a test–retest reliability of 0.92 (p<0.001). The 32 patients diagnosed with anti-SRP IMNM using a line-blot immunoassay included 28 (88%) who tested positive for anti-SRP54 antibodies using the ELISA, comprising 12 (43%) males and 16 (57%) females whose median ages at symptom onset and diagnosis were 43.0 years and 43.5 years, respectively. Symptoms included proximal muscle weakness in all 28 (100%) patients, neck weakness in 9 (32%), myalgia in 15 (54%), dysphagia in 5 (18%), dyspnea in 4 (14%), dysarthria in 2 (7%), interstitial lung disease in 2 (7%), and myocarditis in 2 (7%). The median serum creatine kinase (CK) level was 7,261 U/L (interquartile range: 5,086–10,007 U/L), and the median anti-SRP54 antibody level was 2.0 U/mL (interquartile range: 1.0–5.6 U/mL). The serum CK level was significantly higher in patients with coexisting anti-Ro-52 antibodies.
Conclusions
This study has confirmed the reliability of the ELISA for anti-SRP54 antibodies and provided insights into the clinical, serological, and pathological characteristics of South Korean patients with anti-SRP IMNM.
2.Profiling of Anti-Signal-Recognition Particle Antibodies and Clinical Characteristics in South Korean Patients With Immune-Mediated Necrotizing Myopathy
Soo-Hyun KIM ; Yunjung CHOI ; Eun Kyoung OH ; Ichizo NISHINO ; Shigeaki SUZUKI ; Bum Chun SUH ; Ha Young SHIN ; Seung Woo KIM ; Byeol-A YOON ; Seong-il OH ; Yoo Hwan KIM ; Hyunjin KIM ; Young-Min LIM ; Seol-Hee BAEK ; Je-Young SHIN ; Hung Youl SEOK ; Seung-Ah LEE ; Young-Chul CHOI ; Hyung Jun PARK
Journal of Clinical Neurology 2025;21(1):31-39
Background:
and Purpose This study evaluated the diagnostic utility of an anti-signal-recognition particle 54 (anti-SRP54) antibody-based enzyme-linked immunosorbent assay (ELISA) as well as the clinical, serological, and pathological characteristics of patients with SRP immune-mediated necrotizing myopathy (IMNM).
Methods:
We evaluated 87 patients with idiopathic inflammatory myopathy and 107 healthy participants between January 2002 and December 2023. The sensitivity and specificity of the ELISA for anti-SRP54 antibodies were assessed, and the clinical profiles of patients with antiSRP54 antibodies were determined.
Results:
The ELISA for anti-SRP54 antibodies had a sensitivity and specificity of 88% and 99%, respectively, along with a test–retest reliability of 0.92 (p<0.001). The 32 patients diagnosed with anti-SRP IMNM using a line-blot immunoassay included 28 (88%) who tested positive for anti-SRP54 antibodies using the ELISA, comprising 12 (43%) males and 16 (57%) females whose median ages at symptom onset and diagnosis were 43.0 years and 43.5 years, respectively. Symptoms included proximal muscle weakness in all 28 (100%) patients, neck weakness in 9 (32%), myalgia in 15 (54%), dysphagia in 5 (18%), dyspnea in 4 (14%), dysarthria in 2 (7%), interstitial lung disease in 2 (7%), and myocarditis in 2 (7%). The median serum creatine kinase (CK) level was 7,261 U/L (interquartile range: 5,086–10,007 U/L), and the median anti-SRP54 antibody level was 2.0 U/mL (interquartile range: 1.0–5.6 U/mL). The serum CK level was significantly higher in patients with coexisting anti-Ro-52 antibodies.
Conclusions
This study has confirmed the reliability of the ELISA for anti-SRP54 antibodies and provided insights into the clinical, serological, and pathological characteristics of South Korean patients with anti-SRP IMNM.
3.Profiling of Anti-Signal-Recognition Particle Antibodies and Clinical Characteristics in South Korean Patients With Immune-Mediated Necrotizing Myopathy
Soo-Hyun KIM ; Yunjung CHOI ; Eun Kyoung OH ; Ichizo NISHINO ; Shigeaki SUZUKI ; Bum Chun SUH ; Ha Young SHIN ; Seung Woo KIM ; Byeol-A YOON ; Seong-il OH ; Yoo Hwan KIM ; Hyunjin KIM ; Young-Min LIM ; Seol-Hee BAEK ; Je-Young SHIN ; Hung Youl SEOK ; Seung-Ah LEE ; Young-Chul CHOI ; Hyung Jun PARK
Journal of Clinical Neurology 2025;21(1):31-39
Background:
and Purpose This study evaluated the diagnostic utility of an anti-signal-recognition particle 54 (anti-SRP54) antibody-based enzyme-linked immunosorbent assay (ELISA) as well as the clinical, serological, and pathological characteristics of patients with SRP immune-mediated necrotizing myopathy (IMNM).
Methods:
We evaluated 87 patients with idiopathic inflammatory myopathy and 107 healthy participants between January 2002 and December 2023. The sensitivity and specificity of the ELISA for anti-SRP54 antibodies were assessed, and the clinical profiles of patients with antiSRP54 antibodies were determined.
Results:
The ELISA for anti-SRP54 antibodies had a sensitivity and specificity of 88% and 99%, respectively, along with a test–retest reliability of 0.92 (p<0.001). The 32 patients diagnosed with anti-SRP IMNM using a line-blot immunoassay included 28 (88%) who tested positive for anti-SRP54 antibodies using the ELISA, comprising 12 (43%) males and 16 (57%) females whose median ages at symptom onset and diagnosis were 43.0 years and 43.5 years, respectively. Symptoms included proximal muscle weakness in all 28 (100%) patients, neck weakness in 9 (32%), myalgia in 15 (54%), dysphagia in 5 (18%), dyspnea in 4 (14%), dysarthria in 2 (7%), interstitial lung disease in 2 (7%), and myocarditis in 2 (7%). The median serum creatine kinase (CK) level was 7,261 U/L (interquartile range: 5,086–10,007 U/L), and the median anti-SRP54 antibody level was 2.0 U/mL (interquartile range: 1.0–5.6 U/mL). The serum CK level was significantly higher in patients with coexisting anti-Ro-52 antibodies.
Conclusions
This study has confirmed the reliability of the ELISA for anti-SRP54 antibodies and provided insights into the clinical, serological, and pathological characteristics of South Korean patients with anti-SRP IMNM.
4.Deep Learning-Assisted Quantitative Measurement of Thoracolumbar Fracture Features on Lateral Radiographs
Woon Tak YUH ; Eun Kyung KHIL ; Yu Sung YOON ; Burnyoung KIM ; Hongjun YOON ; Jihe LIM ; Kyoung Yeon LEE ; Yeong Seo YOO ; Kyeong Deuk AN
Neurospine 2024;21(1):30-43
Objective:
This study aimed to develop and validate a deep learning (DL) algorithm for the quantitative measurement of thoracolumbar (TL) fracture features, and to evaluate its efficacy across varying levels of clinical expertise.
Methods:
Using the pretrained Mask Region-Based Convolutional Neural Networks model, originally developed for vertebral body segmentation and fracture detection, we fine-tuned the model and added a new module for measuring fracture metrics—compression rate (CR), Cobb angle (CA), Gardner angle (GA), and sagittal index (SI)—from lumbar spine lateral radiographs. These metrics were derived from six-point labeling by 3 radiologists, forming the ground truth (GT). Training utilized 1,000 nonfractured and 318 fractured radiographs, while validations employed 213 internal and 200 external fractured radiographs. The accuracy of the DL algorithm in quantifying fracture features was evaluated against GT using the intraclass correlation coefficient. Additionally, 4 readers with varying expertise levels, including trainees and an attending spine surgeon, performed measurements with and without DL assistance, and their results were compared to GT and the DL model.
Results:
The DL algorithm demonstrated good to excellent agreement with GT for CR, CA, GA, and SI in both internal (0.860, 0.944, 0.932, and 0.779, respectively) and external (0.836, 0.940, 0.916, and 0.815, respectively) validations. DL-assisted measurements significantly improved most measurement values, particularly for trainees.
Conclusion
The DL algorithm was validated as an accurate tool for quantifying TL fracture features using radiographs. DL-assisted measurement is expected to expedite the diagnostic process and enhance reliability, particularly benefiting less experienced clinicians.
5.The Inflammatory Characteristics of Symptomatic Glioma Associated With Poor Prognosis and Chemoresistance via Tumor Necrosis Factor Signaling Pathway
Jeongman PARK ; Dongkil KIM ; JeongMin SIM ; Yu Jin KIM ; Kyunggi CHO ; Ju Hyung MOON ; Kyoung Su SUNG ; Jihwan YOO ; Jaejoon LIM
Brain Tumor Research and Treatment 2024;12(4):237-244
Background:
Among gliomas, the most common primary malignant brain tumor, incidental gliomasaccount for 2.5%–5% of cases. The controversy over whether to pursue immediate treatment or adopt a wait-and-see approach remains, and more molecular and immunological evidence is needed for definitive treatment decisions.
Methods:
Total RNA sequencing (RNA-seq) data and single cell RNA sequencing (scRNA-seq)data were retrospectively analyzed to compare the molecular and immunological tumor microenvironment differences between incidental glioma and symptomatic glioma samples. These were classified using symptom data from The Cancer Genome Atlas (TCGA) and public dataset.
Results:
RNA-seq analysis of the GBMLGG dataset identified 343 genes upregulated in symp-tomatic glioma and 118 in incidental glioma, with 104 common genes upregulated in symptomatic glioma across both the TCGA and Chinese Glioma Genome Atlas (CGGA) datasets. Enrichment analysis revealed that these 104 genes in symptomatic glioma were significantly associated with immunological pathways. scRNA-seq analysis of glioma revealed 11 cell types, including T cells, myeloid cells, and oligodendrocytes, with the tumor necrosis factor (TNF) signaling pathway strongly influencing other cell types, particularly myeloid cells. Enrichment and survival analyses showed that TNF signaling is associated with temozolomide resistance and poorer prognosis in glioma patients.
Conclusion
The findings suggest that symptomatic glioma enhances inflammatory responseslinked to poor prognosis and chemoresistance. This supports the hypothesis that immediate treatment of incidental glioma may improve patient outcomes over a wait-and-see approach.
6.Cohort profile: Multicenter Networks for Ideal Outcomes of Rare Pediatric Endocrine and Metabolic Diseases in Korea (OUTSPREAD study)
Yun Jeong LEE ; Chong Kun CHEON ; Junghwan SUH ; Jung-Eun MOON ; Moon Bae AHN ; Seong Hwan CHANG ; Jieun LEE ; Jin Ho CHOI ; Minsun KIM ; Han Hyuk LIM ; Jaehyun KIM ; Shin-Hye KIM ; Hae Sang LEE ; Yena LEE ; Eungu KANG ; Se Young KIM ; Yong Hee HONG ; Seung YANG ; Heon-Seok HAN ; Sochung CHUNG ; Won Kyoung CHO ; Eun Young KIM ; Jin Kyung KIM ; Kye Shik SHIM ; Eun-Gyong YOO ; Hae Soon KIM ; Aram YANG ; Sejin KIM ; Hyo-Kyoung NAM ; Sung Yoon CHO ; Young Ah LEE
Annals of Pediatric Endocrinology & Metabolism 2024;29(6):349-355
Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.
7.Deep Learning-Assisted Quantitative Measurement of Thoracolumbar Fracture Features on Lateral Radiographs
Woon Tak YUH ; Eun Kyung KHIL ; Yu Sung YOON ; Burnyoung KIM ; Hongjun YOON ; Jihe LIM ; Kyoung Yeon LEE ; Yeong Seo YOO ; Kyeong Deuk AN
Neurospine 2024;21(1):30-43
Objective:
This study aimed to develop and validate a deep learning (DL) algorithm for the quantitative measurement of thoracolumbar (TL) fracture features, and to evaluate its efficacy across varying levels of clinical expertise.
Methods:
Using the pretrained Mask Region-Based Convolutional Neural Networks model, originally developed for vertebral body segmentation and fracture detection, we fine-tuned the model and added a new module for measuring fracture metrics—compression rate (CR), Cobb angle (CA), Gardner angle (GA), and sagittal index (SI)—from lumbar spine lateral radiographs. These metrics were derived from six-point labeling by 3 radiologists, forming the ground truth (GT). Training utilized 1,000 nonfractured and 318 fractured radiographs, while validations employed 213 internal and 200 external fractured radiographs. The accuracy of the DL algorithm in quantifying fracture features was evaluated against GT using the intraclass correlation coefficient. Additionally, 4 readers with varying expertise levels, including trainees and an attending spine surgeon, performed measurements with and without DL assistance, and their results were compared to GT and the DL model.
Results:
The DL algorithm demonstrated good to excellent agreement with GT for CR, CA, GA, and SI in both internal (0.860, 0.944, 0.932, and 0.779, respectively) and external (0.836, 0.940, 0.916, and 0.815, respectively) validations. DL-assisted measurements significantly improved most measurement values, particularly for trainees.
Conclusion
The DL algorithm was validated as an accurate tool for quantifying TL fracture features using radiographs. DL-assisted measurement is expected to expedite the diagnostic process and enhance reliability, particularly benefiting less experienced clinicians.
8.Deep Learning-Assisted Quantitative Measurement of Thoracolumbar Fracture Features on Lateral Radiographs
Woon Tak YUH ; Eun Kyung KHIL ; Yu Sung YOON ; Burnyoung KIM ; Hongjun YOON ; Jihe LIM ; Kyoung Yeon LEE ; Yeong Seo YOO ; Kyeong Deuk AN
Neurospine 2024;21(1):30-43
Objective:
This study aimed to develop and validate a deep learning (DL) algorithm for the quantitative measurement of thoracolumbar (TL) fracture features, and to evaluate its efficacy across varying levels of clinical expertise.
Methods:
Using the pretrained Mask Region-Based Convolutional Neural Networks model, originally developed for vertebral body segmentation and fracture detection, we fine-tuned the model and added a new module for measuring fracture metrics—compression rate (CR), Cobb angle (CA), Gardner angle (GA), and sagittal index (SI)—from lumbar spine lateral radiographs. These metrics were derived from six-point labeling by 3 radiologists, forming the ground truth (GT). Training utilized 1,000 nonfractured and 318 fractured radiographs, while validations employed 213 internal and 200 external fractured radiographs. The accuracy of the DL algorithm in quantifying fracture features was evaluated against GT using the intraclass correlation coefficient. Additionally, 4 readers with varying expertise levels, including trainees and an attending spine surgeon, performed measurements with and without DL assistance, and their results were compared to GT and the DL model.
Results:
The DL algorithm demonstrated good to excellent agreement with GT for CR, CA, GA, and SI in both internal (0.860, 0.944, 0.932, and 0.779, respectively) and external (0.836, 0.940, 0.916, and 0.815, respectively) validations. DL-assisted measurements significantly improved most measurement values, particularly for trainees.
Conclusion
The DL algorithm was validated as an accurate tool for quantifying TL fracture features using radiographs. DL-assisted measurement is expected to expedite the diagnostic process and enhance reliability, particularly benefiting less experienced clinicians.
9.Diagnostic Value of Sternocleidomastoid Muscle Hemorrhage on Clavicular Periosteum in Hanging Deaths
Sojung LIM ; Hae-ryoung CHUN ; Min-Kyoung KIM ; Min-Jeong SON ; Cherry KIM ; Seong Ho YOO
Journal of Korean Medical Science 2024;39(44):e281-
Background:
Suicide remains a significant global public health challenge, with hanging as the most prevalent suicide method in South Korea. This study aimed to determine diagnostic markers confirming suicidal hanging-associated deaths.
Methods:
In this prospective study, hemorrhages at the periosteal-clavicular origin of the sternocleidomastoid (SCM) muscles were compared among suicidal hanging, manual strangulation, and ligature strangulation cases. This study included 211 cases of suicide by hanging, and a control group of 50 individuals who underwent cardiopulmonary resuscitation but died of other causes. Additionally, nine cases of ligature strangulation and six cases of manual strangulation were analyzed. Postmortem examinations were conducted, and clavicular hemorrhages were histologically evaluated. Statistical analyses were performed using the χ2 test.
Results:
Hemorrhages at the periosteal-clavicular origin of the SCM were observed in 178 of the 211 hanging cases (84.4%). The highest frequency of clavicular hemorrhage was found in typical hanging cases with complete suspension. Among the 50 control cases, only three showed hemorrhages in the clavicular region, but these were extravasations in the adjoining soft tissue, not in the periosteum. In cases of manual and ligature strangulation, SCM hemorrhages were found within the muscle tissue and were not of periosteal-clavicular origin.
Conclusion
Hemorrhage at the periosteal-clavicular origin of the SCM is a significant finding in suicidal hanging and serves as a potential pathognomonic marker for confirming cases of suicidal hanging. The study revealed a statistically significant association between the type of hanging, completeness of body suspension, and the occurrence of these hemorrhages.Cardiopulmonary resuscitation does not cause a hemorrhage at this location.
10.Diagnostic Value of Sternocleidomastoid Muscle Hemorrhage on Clavicular Periosteum in Hanging Deaths
Sojung LIM ; Hae-ryoung CHUN ; Min-Kyoung KIM ; Min-Jeong SON ; Cherry KIM ; Seong Ho YOO
Journal of Korean Medical Science 2024;39(44):e281-
Background:
Suicide remains a significant global public health challenge, with hanging as the most prevalent suicide method in South Korea. This study aimed to determine diagnostic markers confirming suicidal hanging-associated deaths.
Methods:
In this prospective study, hemorrhages at the periosteal-clavicular origin of the sternocleidomastoid (SCM) muscles were compared among suicidal hanging, manual strangulation, and ligature strangulation cases. This study included 211 cases of suicide by hanging, and a control group of 50 individuals who underwent cardiopulmonary resuscitation but died of other causes. Additionally, nine cases of ligature strangulation and six cases of manual strangulation were analyzed. Postmortem examinations were conducted, and clavicular hemorrhages were histologically evaluated. Statistical analyses were performed using the χ2 test.
Results:
Hemorrhages at the periosteal-clavicular origin of the SCM were observed in 178 of the 211 hanging cases (84.4%). The highest frequency of clavicular hemorrhage was found in typical hanging cases with complete suspension. Among the 50 control cases, only three showed hemorrhages in the clavicular region, but these were extravasations in the adjoining soft tissue, not in the periosteum. In cases of manual and ligature strangulation, SCM hemorrhages were found within the muscle tissue and were not of periosteal-clavicular origin.
Conclusion
Hemorrhage at the periosteal-clavicular origin of the SCM is a significant finding in suicidal hanging and serves as a potential pathognomonic marker for confirming cases of suicidal hanging. The study revealed a statistically significant association between the type of hanging, completeness of body suspension, and the occurrence of these hemorrhages.Cardiopulmonary resuscitation does not cause a hemorrhage at this location.

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