1.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.
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.A Study on the Healthcare Workforce and Care for Acute Stroke: Results From the Survey of Hospitals Included in the National Acute Stroke Quality Assessment Program
Jong Young LEE ; Jun Kyeong KO ; Hak Cheol KO ; Hae-Won KOO ; Hyon-Jo KWON ; Dae-Won KIM ; Kangmin KIM ; Myeong Jin KIM ; Hoon KIM ; Keun Young PARK ; Kuhyun YANG ; Jae Sang OH ; Won Ki YOON ; Dong Hoon LEE ; Ho Jun YI ; Heui Seung LEE ; Jong-Kook RHIM ; Dong-Kyu JANG ; Youngjin JUNG ; Sang Woo HA ; Seung Hun SHEEN
Journal of Korean Medical Science 2025;40(16):e44-
Background:
With growing elderly populations, management of patients with acute stroke is increasingly important. In South Korea, the Acute Stroke Quality Assessment Program (ASQAP) has contributed to improving the quality of stroke care and practice behavior in healthcare institutions. While the mortality of hemorrhagic stroke remains high, there are only a few assessment indices associated with hemorrhagic stroke. Considering the need to develop assessment indices to improve the actual quality of care in the field of acute stroke treatment, this study aims to investigate the current status of human resources and practices related to the treatment of patients with acute stroke through a nationwide survey.
Methods:
For the healthcare institutions included in the Ninth ASQAP of the Health Insurance Review and Assessment Service (HIRA), data from January 2022 to December 2022 were collected through a survey on the current status and practice of healthcare providers related to the treatment of patients with acute stroke. The questionnaire consisted of 19 items, including six items on healthcare providers involved in stroke care and 10 items on the care of patients with acute stroke.
Results:
In the treatment of patients with hemorrhagic stroke among patients with acute stroke, neurosurgeons were the most common providers. The contribution of neurosurgeons in the treatment of ischemic stroke has also been found to be equivalent to that of neurologists. However, a number of institutions were found to be devoid of healthcare providers who perform definitive treatments, such as intra-arterial thrombectomy for patients with ischemic stroke or cerebral aneurysm clipping for subarachnoid hemorrhage. The intensity of the workload of healthcare providers involved in the care of patients with acute stroke, especially those involved in definitive treatment, was also found to be quite high.
Conclusion
Currently, there are almost no assessment indices specific to hemorrhagic stroke in the ASQAP for acute stroke. Furthermore, it does not reflect the reality of the healthcare providers and practices that provide definitive treatment for acute stroke. The findings of this study suggest the need for the development of appropriate assessment indices that reflect the realities of acute stroke care.
4.Epidemiology and Functional Outcome of Acute Stroke Patients in Korea Using Nationwide data
Seungmin SHIN ; Young Woo KIM ; Seung Hun SHEEN ; Sukh Que PARK ; Sung-Chul JIN ; Jin Pyeong JEON ; Ji Young LEE ; Boung Chul LEE ; Young Wha LIM ; Gui Ok KIM ; Youg Uk KWON ; Yu Ra LEE ; So Young HAN ; Jae Sang OH
Journal of Korean Neurosurgical Society 2025;68(2):159-176
Objective:
: Korea’s healthcare system and policy promotes early, actively stroke treatment to improve prognosis. This study represents stroke epidemiology and outcomes in Korea.
Methods:
: This study investigated data from the Acute Stroke Assessment Registry. The registry collects data from over 220 hospitals nationwide, focusing on quality stroke service management. Data analysis included patient demographics, stroke severity assessment, and discharge prognosis measurement using standardized scales.
Results:
: Eighty-six thousand five hundred sixty-eight acute stroke patients were collected with demographic and clinical characteristics during 18 months from 2016, 2018, and between 2020 to 2021, focusing on acute subarachnoid hemorrhage (SAH), acute intracerebral hemorrhage (ICH), and acute ischemic stroke. Of these 86568 patients, 8.3% was SAH, 16.3% ICH, and 74.9% ischemic stroke. Trends showed decreasing SAH and increasing ICH cases over the years. 68.3% stroke patients had the clear onset time. 49.6% stroke patients arrived within 4.5 hours of symptom onset, with more patients treated at general hospitals. Good functional outcomes at discharge was obtained with 58.3% of acute stroke patients, 55.9% of SAH patients, 34.6% of ICH patients, and 63.8% of ischemic stroke patients.
Conclusion
: The results showed that ischemic stroke was the most common subtype, followed by ICH and SAH. Prognosis differed among subtypes, with favorable outcomes more common in ischemic stroke and SAH compared to ICH.
5.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.
6.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.
7.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.
8.Clinical Characteristics of Pediatric Chronic Rhinosinusitis: A Nationwide Retrospective Multicenter Study
Donghyeok KIM ; Gwanghui RYU ; Sang Duk HONG ; Shin Hyuk YOO ; Sue Jean MUN ; Eun Jung LEE ; Sung-Jae HEO ; Jin Hyeok JEONG ; Dae Woo KIM ; Hyung-Ju CHO ; Min-Seok RHA ; Yong Min KIM ; Ki-Il LEE ; Ji-Hun MO ;
Journal of Rhinology 2025;32(1):28-35
Background and Objectives:
Pediatric chronic rhinosinusitis (CRS) significantly affects children’s quality of life and learning abilities. This study aimed to evaluate the postoperative outcomes in pediatric patients who underwent functional endoscopic sinus surgery (FESS) for CRS.
Methods:
A retrospective review was conducted on pediatric patients who underwent FESS for CRS at 11 university hospitals. The inclusion criteria were patients under 20 years old with bilateral disease who were operated on between January 2005 and December 2021. The data collected included demographics, clinical history, blood tests, preoperative computed tomography, and preoperative and postoperative symptom control. The Kruskal-Wallis and Fisher exact tests were used to compare the quantitative and qualitative data, respectively.
Results:
In total, 213 patients were enrolled. The mean age was 13.4±3.0 years, and 145 (68.1%) were male. One hundred sixty-four patients (77.0%) had nasal polyps and 33 patients (15.5%) underwent revision FESS. The preoperative symptoms, in order of prevalence, included nasal obstruction (87.8%), rhinorrhea (71.8%), a sense of postnasal drip (58.2%), hyposmia (44.6%), cough (24.4%), and facial fullness (18.3%). These symptoms were significantly alleviated for up to 3 years after surgery (p<0.001). At the time of the last follow-up, 121 patients (56.8%) were controlled, 80 (37.6%) were partly controlled, and 12 (5.6%) were uncontrolled. Patients in the uncontrolled group had higher Lund-Mackay scores, longer follow-up durations, and more instances of revision surgery compared to those in the controlled and partly controlled groups. When age was categorized into three groups, those aged 16 years or older tended to have lower Lund-Mackay scores and better control.
Conclusion
FESS significantly improves both the postoperative symptoms and the long-term quality of life in pediatric CRS patients. Better symptom control is associated with older age and a lower disease burden.
9.Early Administration of Nelonemdaz May Improve the Stroke Outcomes in Patients With Acute Stroke
Jin Soo LEE ; Ji Sung LEE ; Seong Hwan AHN ; Hyun Goo KANG ; Tae-Jin SONG ; Dong-Ick SHIN ; Hee-Joon BAE ; Chang Hun KIM ; Sung Hyuk HEO ; Jae-Kwan CHA ; Yeong Bae LEE ; Eung Gyu KIM ; Man Seok PARK ; Hee-Kwon PARK ; Jinkwon KIM ; Sungwook YU ; Heejung MO ; Sung Il SOHN ; Jee Hyun KWON ; Jae Guk KIM ; Young Seo KIM ; Jay Chol CHOI ; Yang-Ha HWANG ; Keun Hwa JUNG ; Soo-Kyoung KIM ; Woo Keun SEO ; Jung Hwa SEO ; Joonsang YOO ; Jun Young CHANG ; Mooseok PARK ; Kyu Sun YUM ; Chun San AN ; Byoung Joo GWAG ; Dennis W. CHOI ; Ji Man HONG ; Sun U. KWON ;
Journal of Stroke 2025;27(2):279-283

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