1.Identification of de novo BSCL2 Asn88Ser Variant with Atypical Presentation of Distal Hereditary Motor Neuropathy Type 5: Clinical Challenge in Diagnosis of Motor Neuron Diseases
Hyunkee KIM ; Jung Hyun LEE ; Dongju WON ; Jong Rak CHOI ; Ha Young SHIN ; Seung Hyun KIM
Journal of the Korean Neurological Association 2025;43(1):35-39
Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.
2.Analysis of emergency department related lawsuits and its response
Ilchae JEONG ; Minhoo SEO ; Sang Ook HA ; Won Seok YANG ; Young Sun PARK ; Kangeui LEE ; Taejin PARK
Journal of the Korean Society of Emergency Medicine 2025;36(2):83-91
Objective:
This study examined the up-to-date facts from real cases of emergency medical litigations to provide information to act appropriately in medical lawsuits against emergency medicine specialists.
Methods:
Data were collected from lawsuits from 2008 to 2020. Thirty-nine cases were collected and analyzed retrospectively. Six emergency medicine specialists and one resident with a lawyer’s license participated in the analysis.
Results:
Medical litigations have surged since 2015. The lawsuits were due mainly to misdiagnoses and violations of the duty to explain. Medical staff won in 12 (38.7%) cases and lost in 19 (61.3%). The main reason for losing was a violation of the duty of care. In criminal claims, 50% of cases resulted in confinement. The win rate was 1.4 times higher in cases where consultation was requested from other specialties (42.9% and 29.4% win with consultation and without, respectively).
Conclusion
The win rate in lawsuits is decreasing, and the level of penalty is becoming more severe. The decrease in the violation of duty to explain was attributed to education through the years. The win rate was higher when consulting with other specialists. Hence, active consultation is recommended. In addition, the system of radiology interpretation requires improvement because of the many misdiagnoses from reading diagnostic images.
3.Thoracic spinal cord damage in rat following cardiac arrest: neuronal loss, blood-spinal cord barrier leakage, and astrocyte endfeet disruption
Myoung Cheol SHIN ; Hyun-Jin TAE ; Joon Ha PARK ; Ji Hyeon AHN ; Dae Won KIM ; Moo-Ho WON ; Jun Hwi CHO ; Tae-Kyeong LEE
Journal of the Korean Society of Emergency Medicine 2025;36(1):1-11
Objective:
Cardiac arrest and cardiopulmonary resuscitation (CA/R) lead to whole-body ischemia and reperfusion (IR) injury, causing multiple organ dysfunction, including ischemic spinal cord injury. The thoracic spinal cord levels are crucial for maintaining the sympathetic functions vital for life. This study examined blood-spinal cord barrier (BSCB) leakage and astrocyte endfeet (AEF) disruption and their effects on survival, physiological variables, and neuronal damage/death in the intermediate zone (IMZ) at the seventh thoracic spinal cord level after asphyxial CA/R in rats.
Methods:
The rats underwent whole-body IR injury by asphyxial CA/R. Kaplan-Meier analysis was conducted to assess the cumulative survival post-CA/R. The histological changes post-CA/R were evaluated using immunohistochemistry, histofluorescence, and double histofluorescence.
Results:
No significant differences in body weight, mean arterial pressure, and heart rate were found between the sham and CA/R groups post-CA/R. The survival rates in the CA/R group at 12, 24, and 48 hours were 62.58%, 36.37%, and 7.8%, respectively. Neuronal loss and BSCB leakage began 12 hours post-CA/R, increasing with time. Reactive astrogliosis appeared at 12 hours and increased, while AEF disruption around blood vessels was evident at 48 hours.
Conclusion
The survival rate declined significantly by 48 hours post-CA/R. Neuronal loss and BSCB leakage in the thoracic spinal cord IMZ was evident at 12 hours and significant by 48 hours, aligning with AEF disruption. Neuronal loss in the thoracic spinal cord IMZ post-CA/R may be related to BSCB leakage and AEF disruption.
4.The Effects of Nicotine on Re-endothelialization, Inflammation, and Neoatherosclerosis After Drug-Eluting Stent Implantation in a Porcine Model
Seok OH ; Ju Han KIM ; Saleem AHMAD ; Yu Jeong JIN ; Mi Hyang NA ; Munki KIM ; Jeong Ha KIM ; Dae Sung PARK ; Dae Young HYUN ; Kyung Hoon CHO ; Min Chul KIM ; Doo Sun SIM ; Young Joon HONG ; Seung-won LEE ; Youngkeun AHN ; Myung Ho JEONG
Korean Circulation Journal 2025;55(1):50-64
Background and Objectives:
Cigarette smoking is a major risk factor for atherosclerosis.Nicotine, a crucial constituent of tobacco, contributes to atherosclerosis development and progression. However, evidence of the association between nicotine and neointima formation is limited. We aimed to evaluate whether nicotine enhances neointimal hyperplasia in the native epicardial coronary arteries of pigs after percutaneous coronary intervention (PCI) with drug-eluting stents (DES).
Methods:
After coronary angiography (CAG) and quantitative coronary angiography (QCA), we implanted 20 DES into 20 pigs allocated to 2 groups: no-nicotine (n=10) and nicotine (n=10) groups. Post-PCI CAG and QCA were performed immediately. Follow-up CAG, QCA, optical coherence tomography (OCT), and histopathological analyses were performed 2 months post-PCI.
Results:
Despite intergroup similarities in the baseline QCA findings, OCT analysis showed that the nicotine group had a smaller mean stent and lumen areas, a larger mean neointimal area, greater percent area stenosis, and higher peri-strut fibrin and inflammation scores than the no-nicotine group. In immunofluorescence analysis, the nicotine group displayed higher expression of CD68 and α-smooth muscle actin but lower CD31 expression than the no-nicotine group.
Conclusions
Nicotine inhibited re-endothelialization and promoted inflammation and NIH after PCI with DES in a porcine model.
5.Ultrafast MRI for Pediatric Brain Assessment in Routine Clinical Practice
Hee Eun MOON ; Ji Young HA ; Jae Won CHOI ; Seung Hyun LEE ; Jae-Yeon HWANG ; Young Hun CHOI ; Jung-Eun CHEON ; Yeon Jin CHO
Korean Journal of Radiology 2025;26(1):75-87
Objective:
To assess the feasibility of ultrafast brain magnetic resonance imaging (MRI) in pediatric patients.
Materials and Methods:
We retrospectively reviewed 194 pediatric patients aged 0 to 19 years (median 10.2 years) who underwent both ultrafast and conventional brain MRI between May 2019 and August 2020. Ultrafast MRI sequences included T1 and T2-weighted images (T1WI and T2WI), fluid-attenuated inversion recovery (FLAIR), T2*-weighted image (T2*WI), and diffusion-weighted image (DWI). Qualitative image quality and lesion evaluations were conducted on 5-point Likert scales by two blinded radiologists, with quantitative assessment of lesion count and size on T1WI, T2WI, and FLAIR sequences for each protocol. Wilcoxon signed-rank tests and intraclass correlation coefficient (ICC) analyses were used for comparison.
Results:
The total scan times for equivalent image contrasts were 1 minute 44 seconds for ultrafast MRI and 15 minutes 30 seconds for conventional MRI. Overall, image quality was lower in ultrafast MRI than in conventional MRI, with mean quality scores ranging from 2.0 to 4.8 for ultrafast MRI and 4.8 to 5.0 for conventional MRI across sequences (P < 0.001 for T1WI, T2WI, FLAIR, and T2*WI for both readers; P = 0.018 [reader 1] and 0.031 [reader 2] for DWI). Lesion detection rates on ultrafast MRI relative to conventional MRI were as follows: T1WI, 97.1%; T2WI, 99.6%; FLAIR, 92.9%; T2*WI, 74.1%; and DWI, 100%. The ICC (95% confidence interval) for lesion size measurements between ultrafast and conventional MRI was as follows: T1WI, 0.998 (0.996–0.999); T2WI, 0.998 (0.997–0.999); and FLAIR, 0.99 (0.985–0.994).
Conclusion
Ultrafast MRI significantly reduces scan time and provides acceptable results, albeit with slightly lower image quality than conventional MRI, for evaluating intracranial abnormalities in pediatric patients.
6.Occupational disease monitoring by the Korea Occupational Disease Surveillance Center: a narrative review
Dong-Wook LEE ; Inah KIM ; Jungho HWANG ; Sunhaeng CHOI ; Tae-Won JANG ; Insung CHUNG ; Hwan-Cheol KIM ; Jaebum PARK ; Jungwon KIM ; Kyoung Sook JEONG ; Youngki KIM ; Eun-Soo LEE ; Yangwoo KIM ; Inchul JEONG ; Hyunjeong OH ; Hyeoncheol OH ; Jea Chul HA ; Jeehee MIN ; Chul Gab LEE ; Heon KIM ; Jaechul SONG
The Ewha Medical Journal 2025;48(1):e9-
This review examines the challenges associated with occupational disease surveillance in Korea, particularly emphasizing the limitations of current data sources such as the Industrial Accident Compensation Insurance (IACI) statistics and special health examinations. The IACI system undercounts cases due to its emphasis on severe diseases and restrictions on approvals. Special health examinations, although they cover a broad workforce, are constrained by their annual scheduling, which leads to missed acute illnesses and subclinical conditions. The paper also explores the history of occupational disease surveillance in Korea, highlighting the fragmented and disease-specific approach of earlier systems. The authors introduce the newly established Korea Occupational Disease Surveillance Center (KODSC), a comprehensive nationwide system designed to gather, analyze, and interpret data on occupational diseases through a network of regional centers. By incorporating hospital-based surveillance and focusing on acute poisonings and other sentinel events, the KODSC aims to overcome the limitations of previous systems and promote collaboration with various agencies. Although it is still in the early stages of implementation, the KODSC demonstrates potential for improving data accuracy and contributing valuable insights for public health policy.
7.Primary Cholangiocarcinoma of the Liver Presenting as a Complicated Hepatic Cyst: A Diagnostic Challenge
Chang Won HA ; Sang Deok SHIN ; Myung Ji GOH ; Byeong Geun SONG ; Wonseok KANG ; Dong Hyun SINN ; Geum-Youn GWAK ; Yong-Han PAIK ; Moon Seok CHOI ; Joon Hyeok LEE
The Korean Journal of Gastroenterology 2025;85(1):83-88
Primary cholangiocarcinoma is a rare bile duct epithelial neoplasm that can present with atypical clinical manifestations, complicating its diagnosis. A 62-year-old male showed symptoms suggestive of a complicated hepatic cyst that was later identified as intrahepatic cholangiocarcinoma. The patient presented with abdominal discomfort without fever. Imaging revealed a large cystic lesion in the liver. Despite the initial treatment for a presumed abscess, a biopsy confirmed cholangiocarcinoma. This case highlights the diagnostic challenge of distinguishing between benign complicated hepatic cysts and malignancies, particularly when typical markers of infection are absent. Early biopsy and vigilant assessments are crucial in such presentations to avoid a delayed diagnosis and initiate appropriate treatment.
8.Miliary Tuberculosis Initially Presenting as an Isolated Hepatic Abscess
Chang Won HA ; Sang Deok SHIN ; Myung Ji GOH ; Byeong Geun SONG ; Wonseok KANG ; Dong Hyun SINN ; Geum-Youn GWAK ; Yong-Han PAIK ; Moon Seok CHOI ; Joon Hyeok LEE
The Korean Journal of Gastroenterology 2025;85(1):78-82
Hepatic tuberculosis, typically associated with miliary tuberculosis, can occasionally present as localized liver lesions. This case report describes a 77-year-old male presenting with persistent abdominal pain and fever, following an endoscopic retrograde cholangiopancreatography for bile duct sludge removal. Subsequent computed tomography revealed focal liver lesions. Despite initial treatment with antibiotics for a suspected inflammatory liver abscess, his condition did not improve. A liver biopsy was performed, revealing caseous granulomas, and the tuberculosis polymerase chain reaction result was positive. The patient was diagnosed with primary hepatic tuberculosis, which later disseminated. Oral anti-tuberculosis therapy was initiated and is currently being closely monitored. This case emphasizes the importance of considering hepatic tuberculosis in the differential diagnosis of liver lesions, particularly in cases involving cholestatic liver function tests, and persistent symptoms unresponsive to conventional antibiotics.
9.Literature review of non-pharmacological treatment for patients with axial spondyloarthritis
Jina YEO ; Mi Ryoung SEO ; Jun Won PARK ; Yeon-Ah LEE ; Ju Ho LEE ; Eun Ha KANG ; Seon Mi JI ; Han Joo BAEK
The Korean Journal of Internal Medicine 2025;40(1):40-48
Axial spondyloarthritis (axSpA) is a chronic inflammatory disorder affecting the sacroiliac joints and axial spine. Along with pharmacotherapy, non-pharmacological interventions for axSpA are crucial and constitute the cornerstone of treatment. Here, we review the evidence for non-pharmacological treatment of axSpA as a basis for the 2023 Korean treatment recommendations for patients with axSpA. The effectiveness of the core non-pharmacological approaches, such as education, smoking cessation, and exercise, has been reaffirmed. High-quality research on surgical treatment is limited. However, total hip replacement is advised in patients with ongoing pain or disability and visible structural damage to the hip on imaging. Urgent spinal intervention should be considered in cases of acute spinal pain with neurological deficiency or concurrent unstable fractures. Evidence for complementary therapies, including spas and acupuncture, remains insufficient.
10.Reclassification of the overlap syndrome of Behçet’s disease and antineutrophil cytoplasmic antibody-associated vasculitis in patients with Behçet’s disease
Tae Geom LEE ; Jang Woo HA ; Jason Jungsik SONG ; Yong-Beom PARK ; Sang-Won LEE
The Korean Journal of Internal Medicine 2025;40(1):135-147
Background/Aims:
This study applied the 2022 American College of Rheumatology/European Alliance of Associations for Rheumatology (ACR/EULAR) criteria for antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) to patients with Behçet’s disease (BD) to investigate the proportion and clinical implications of the reclassification to the overlap syndrome of BD and AAV (OS-BD-AAV).
Methods:
We included 280 BD patients presenting with ANCA positivity but without medical conditions mimicking AAV at diagnosis. Demographic data, items from the 2014 revised International Criteria for BD and 2022 American College of Rheumatology and European Alliance of Associations for Rheumatology criteria for AAV, ANCA positivity, and laboratory results were recorded as clinical data at diagnosis. A total score ≥ 5 indicated microscopic polyangiitis (MPA) and granulomatosis with polyangiitis (GPA), whereas a total score ≥ 6 indicated a diagnosis of eosinophilic GPA (EGPA).
Results:
The overall reclassification rate of OS-BD-AAV was 8.6%. Of the 280 patients, 16 (5.7%) and 8 (2.9%) were reclassified as having OS-BD-MPA and OS-BD-GPA, respectively; none were classified as having OS-BD-EGPA. ANCA, myeloperoxidase-ANCA (P-ANCA), proteinase 3-ANCA (C-ANCA) positivity, hearing loss, and interstitial lung disease (ILD) at diagnosis were more common in patients with OS-BD-AAV than in those without. ANCA positivity and ILD at BD diagnosis contributed to the reclassification of OS-BD-AAV. However, hearing loss was not considered a major contributor to BD due to its possibility of developing as a manifestation of BD.
Conclusions
To our knowledge, this is the first study to demonstrate the reclassification rate (8.6%) of patients with BD and ANCA results at diagnosis as OS-BD-AAV.

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