2.A Preterm Infant with TTN Gene Mutation Presenting with Cardiac Tamponade and Hydrops Fetalis: A Case Report
Jae Hun JEONG ; Young Hyun KIM ; Dong Won LEE
Neonatal Medicine 2025;32(1):49-54
Hydrops fetalis is a condition characterized by excessive fluid accumulation in the fetus, and is classified into immune and non-immune types depending on the underlying disease. Among cases of non-immune hydrops fetalis (NIHF), 15% to 20% are of cardiac origin, and genetic factors such as titin (TTN) gene mutations can contribute to cardiac dysfunction. We report the case of a preterm infant (29+2 weeks, 1,430 g) with hydrops fetalis who developed cardiac tamponade due to major pericardial effusion. Seven hours after birth, the heart rate suddenly decreased, and blood pressure could not be measured. Transthoracic echocardiography revealed substantial pericardial effusion and severely impaired cardiac function, and the preterm infant was diagnosed with pericardial tamponade. Emergency pericardiocentesis was performed, which led to hemodynamic stabilization. Genetic testing identified two heterozygous TTN mutations (c.13898A>T and c.27856G>T), with the latter presumed responsible for the observed cardiac dysfunction. The mother was found to carry the c.13898A>T mutation, but was asymptomatic. This case report highlights the importance of genetic testing in neonates with unexplained NIHF and cardiac complications. Identifying TTN gene mutations provides valuable insights into the underlying pathophysiology and guides clinical management.
3.Rapidly Growing Gastrointestinal Stromal Tumor on the Esophagus
Ji Hye PARK ; Sung Eun KIM ; Seun Ja PARK ; Moo In PARK ; Won MOON ; Jae Hyun KIM ; Kyoungwon JUNG ; Myung Hun LEE
The Korean Journal of Helicobacter and Upper Gastrointestinal Research 2025;25(1):64-69
Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms that mainly occur in the stomach and small intestine; those arising in the esophagus are rarer. A 54-year-old woman was referred to our hospital with a one-month history of dysphagia. Esophagogastroduodenoscopy (EGD), performed approximately five months earlier, had not revealed any specific findings. However, an EGD performed in our hospital showed the presence of a round, protruding lesion (approximately 40×30 mm in size), with a normal overlying mucosal surface, 35–39 cm from the upper incisor. Chest computed tomography (CT) revealed a large esophageal mass. Enucleation was performed on the esophageal mass, and a GIST was diagnosed using immunochemical staining. Imatinib mesylate administration was initiated two months postoperatively. The patient was stable, without any evident recurrence in the 8-month postoperative follow-up EGD and chest CT examinations. Therefore, physicians should consider that patients with worsening dysphagia may have an underlying organic condition, such as an acute increase in size of an esophageal GIST, even if recent examinations were unremarkable.
4.Perceptions of treatment, accompanying symptoms, and other problems in patients with chronic pain: a multicenter cross-sectional study in Korea
Jieun BAE ; Yun Hee LIM ; Sung Jun HONG ; Jae Hun JEONG ; Hey Ran CHOI ; Sun Kyung PARK ; Jung Eun KIM ; Jae Hun KIM
The Korean Journal of Pain 2025;38(1):69-78
Background:
Chronic pain significantly affects daily activities, mental health, and the interpersonal relationships of patients. Consequently, physicians use various treatments to manage pain. This study investigated the perceptions of treatment, accompanying symptoms, and other problems in patients with chronic pain.
Methods:
The authors enrolled patients with chronic pain from 19 university hospitals in South Korea. Data was collected on age, gender, diagnosis, disease duration, severity of pain, perception of pain treatment, and accompanying symptoms or problems using an anonymous survey comprising 19 questions.
Results:
In total, 833 patients with chronic pain completed the survey, and 257 (31.0%) and 537 (64.5%) patientsexpressed concerns about the potential adverse effects of medication and opioid addiction, respectively. Personalitychanges such as irritability or anger were the most frequent accompanying symptoms in 507 (63.8%) patients, followed by depression and sleep disturbance in 462 (58.1%) and 450 (54.5%) patients, respectively. Depression (P = 0.001) and anxiety (P = 0.029) were more common among women, whereas divorce (P = 0.016), family conflict (P < 0.001), unemployment (P < 0.001), suicide attempts (P < 0.001), and restrictions on economic activity (P < 0.001) were more common among men. The frequency of accompanying symptoms, except for suicidal ideation,was higher in the younger patients aged ≤ 40 years than in the older patients aged > 40 years.
Conclusions
Many patients with chronic pain had concerns about adverse effects or medication tolerance and experienced anxiety, depression, or sleep disturbances. The prevalence of accompanying problems varies according to age and gender.
5.Korean Guidelines for Diagnosis and Management of Interstitial Lung Diseases: Connective Tissue Disease Associated Interstitial Lung Disease
Ju Hyun OH ; Jae Ha LEE ; Sung Jun CHUNG ; Young Seok LEE ; Tae-Hyeong KIM ; Tae-Jung KIM ; Joo Hun PARK ;
Tuberculosis and Respiratory Diseases 2025;88(2):247-263
Connective tissue disease (CTD), comprising a range of autoimmune disorders, is often accompanied by lung involvement, which can lead to life-threatening complications. The primary types of CTDs that manifest as interstitial lung disease (ILD) include rheumatoid arthritis, systemic sclerosis, Sjögren’s syndrome, mixed CTD, idiopathic inflammatory myopathies, and systemic lupus erythematosus. CTD-ILD presents a significant challenge in clinical diagnosis and management due to its heterogeneous nature and variable prognosis. Early diagnosis through clinical, serological, and radiographic assessments is crucial for distinguishing CTD-ILD from idiopathic forms and for implementing appropriate therapeutic strategies. Hence, we have reviewed the multiple clinical manifestations and diagnostic approaches for each type of CTD-ILD, acknowledging the diversity and complexity of the disease. The importance of a multidisciplinary approach in optimizing the management of CTD-ILD is emphasized by recent therapeutic advancements, which include immunosuppressive agents, antifibrotic therapies, and newer biological agents targeting specific pathways involved in the pathogenesis. Therapeutic strategies should be customized according to the type of CTD, the extent of lung involvement, and the presence of extrapulmonary manifestations. Additionally, we aimed to provide clinical guidance, including therapeutic recommendations, for the effective management of CTD-ILD, based on patient, intervention, comparison, outcome (PICO) analysis.
6.A Preterm Infant with TTN Gene Mutation Presenting with Cardiac Tamponade and Hydrops Fetalis: A Case Report
Jae Hun JEONG ; Young Hyun KIM ; Dong Won LEE
Neonatal Medicine 2025;32(1):49-54
Hydrops fetalis is a condition characterized by excessive fluid accumulation in the fetus, and is classified into immune and non-immune types depending on the underlying disease. Among cases of non-immune hydrops fetalis (NIHF), 15% to 20% are of cardiac origin, and genetic factors such as titin (TTN) gene mutations can contribute to cardiac dysfunction. We report the case of a preterm infant (29+2 weeks, 1,430 g) with hydrops fetalis who developed cardiac tamponade due to major pericardial effusion. Seven hours after birth, the heart rate suddenly decreased, and blood pressure could not be measured. Transthoracic echocardiography revealed substantial pericardial effusion and severely impaired cardiac function, and the preterm infant was diagnosed with pericardial tamponade. Emergency pericardiocentesis was performed, which led to hemodynamic stabilization. Genetic testing identified two heterozygous TTN mutations (c.13898A>T and c.27856G>T), with the latter presumed responsible for the observed cardiac dysfunction. The mother was found to carry the c.13898A>T mutation, but was asymptomatic. This case report highlights the importance of genetic testing in neonates with unexplained NIHF and cardiac complications. Identifying TTN gene mutations provides valuable insights into the underlying pathophysiology and guides clinical management.
7.Rapidly Growing Gastrointestinal Stromal Tumor on the Esophagus
Ji Hye PARK ; Sung Eun KIM ; Seun Ja PARK ; Moo In PARK ; Won MOON ; Jae Hyun KIM ; Kyoungwon JUNG ; Myung Hun LEE
The Korean Journal of Helicobacter and Upper Gastrointestinal Research 2025;25(1):64-69
Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms that mainly occur in the stomach and small intestine; those arising in the esophagus are rarer. A 54-year-old woman was referred to our hospital with a one-month history of dysphagia. Esophagogastroduodenoscopy (EGD), performed approximately five months earlier, had not revealed any specific findings. However, an EGD performed in our hospital showed the presence of a round, protruding lesion (approximately 40×30 mm in size), with a normal overlying mucosal surface, 35–39 cm from the upper incisor. Chest computed tomography (CT) revealed a large esophageal mass. Enucleation was performed on the esophageal mass, and a GIST was diagnosed using immunochemical staining. Imatinib mesylate administration was initiated two months postoperatively. The patient was stable, without any evident recurrence in the 8-month postoperative follow-up EGD and chest CT examinations. Therefore, physicians should consider that patients with worsening dysphagia may have an underlying organic condition, such as an acute increase in size of an esophageal GIST, even if recent examinations were unremarkable.
8.Perceptions of treatment, accompanying symptoms, and other problems in patients with chronic pain: a multicenter cross-sectional study in Korea
Jieun BAE ; Yun Hee LIM ; Sung Jun HONG ; Jae Hun JEONG ; Hey Ran CHOI ; Sun Kyung PARK ; Jung Eun KIM ; Jae Hun KIM
The Korean Journal of Pain 2025;38(1):69-78
Background:
Chronic pain significantly affects daily activities, mental health, and the interpersonal relationships of patients. Consequently, physicians use various treatments to manage pain. This study investigated the perceptions of treatment, accompanying symptoms, and other problems in patients with chronic pain.
Methods:
The authors enrolled patients with chronic pain from 19 university hospitals in South Korea. Data was collected on age, gender, diagnosis, disease duration, severity of pain, perception of pain treatment, and accompanying symptoms or problems using an anonymous survey comprising 19 questions.
Results:
In total, 833 patients with chronic pain completed the survey, and 257 (31.0%) and 537 (64.5%) patientsexpressed concerns about the potential adverse effects of medication and opioid addiction, respectively. Personalitychanges such as irritability or anger were the most frequent accompanying symptoms in 507 (63.8%) patients, followed by depression and sleep disturbance in 462 (58.1%) and 450 (54.5%) patients, respectively. Depression (P = 0.001) and anxiety (P = 0.029) were more common among women, whereas divorce (P = 0.016), family conflict (P < 0.001), unemployment (P < 0.001), suicide attempts (P < 0.001), and restrictions on economic activity (P < 0.001) were more common among men. The frequency of accompanying symptoms, except for suicidal ideation,was higher in the younger patients aged ≤ 40 years than in the older patients aged > 40 years.
Conclusions
Many patients with chronic pain had concerns about adverse effects or medication tolerance and experienced anxiety, depression, or sleep disturbances. The prevalence of accompanying problems varies according to age and gender.
9.Korean Guidelines for Diagnosis and Management of Interstitial Lung Diseases: Connective Tissue Disease Associated Interstitial Lung Disease
Ju Hyun OH ; Jae Ha LEE ; Sung Jun CHUNG ; Young Seok LEE ; Tae-Hyeong KIM ; Tae-Jung KIM ; Joo Hun PARK ;
Tuberculosis and Respiratory Diseases 2025;88(2):247-263
Connective tissue disease (CTD), comprising a range of autoimmune disorders, is often accompanied by lung involvement, which can lead to life-threatening complications. The primary types of CTDs that manifest as interstitial lung disease (ILD) include rheumatoid arthritis, systemic sclerosis, Sjögren’s syndrome, mixed CTD, idiopathic inflammatory myopathies, and systemic lupus erythematosus. CTD-ILD presents a significant challenge in clinical diagnosis and management due to its heterogeneous nature and variable prognosis. Early diagnosis through clinical, serological, and radiographic assessments is crucial for distinguishing CTD-ILD from idiopathic forms and for implementing appropriate therapeutic strategies. Hence, we have reviewed the multiple clinical manifestations and diagnostic approaches for each type of CTD-ILD, acknowledging the diversity and complexity of the disease. The importance of a multidisciplinary approach in optimizing the management of CTD-ILD is emphasized by recent therapeutic advancements, which include immunosuppressive agents, antifibrotic therapies, and newer biological agents targeting specific pathways involved in the pathogenesis. Therapeutic strategies should be customized according to the type of CTD, the extent of lung involvement, and the presence of extrapulmonary manifestations. Additionally, we aimed to provide clinical guidance, including therapeutic recommendations, for the effective management of CTD-ILD, based on patient, intervention, comparison, outcome (PICO) analysis.
10.Dual-plate fixation using a medial and lateral approach for transcondylar fractures of the distal humerus in older adults: an observational cohort study
Jae Hoon LEE ; Jong Hun BAEK ; Myung-Seo KIM ; Ki-Hyeok KU
Archives of hand and microsurgery 2025;30(2):95-103
Purpose:
Commonly used surgical approaches for internal plate fixation of transcondylar distal humeral fractures may require ulnar nerve release or anterior transposition, and extensive surgical dissection can cause triceps weakness. This study reports the surgical technique and clinical outcomes of a medial and lateral approach for dual-plate fixation of transcondylar distal humeral fractures without ulnar nerve release or extensive surgical dissection.
Methods:
Sixteen patients (mean age, 81.25 years; range, 70–95 years) who underwent plate fixation using a medial and lateral approach for distal humeral transcondylar fractures were retrospectively reviewed. An anatomical distal humerus parallel or orthogonal locking plate was used for internal fixation. Ulnar nerve release was not performed in any patients. Surgical outcomes were evaluated 1 year postoperatively based on the level of pain, elbow range of motion, the Mayo elbow performance score, and postoperative complications.
Results:
The mean visual analog scale score was 0.47. The mean range of motion of the elbow joint was 13.8° for extension and 131.8° for flexion. The Mayo Elbow Performance Score was excellent in nine patients and good in seven. Bone union was achieved in all patients. There were no complications such as ulnar neuropathy, heterotopic ossification, or infection.
Conclusion
In transcondylar distal humeral fracture in older adults, a medial and lateral approach with dual anatomical locking plate fixation is recommended as a surgical technique that has the advantage of enabling rigid fixation without necessitating ulnar nerve release and extensive surgical dissection. Nonetheless, further research should be conducted.

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