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.
3.Far-Lateral Transforaminal Unilateral Biportal Endoscopic Lumbar Discectomy for Upper Lumbar Disc Herniations
Jin Seop HWANG ; Sang Hyub LEE ; Dain JEONG ; Jae-Won JANG ; Yong Eun CHO ; Dong-Geun LEE ; Choon Keun PARK ; Chung Kee CHOUGH
Neurospine 2025;22(1):14-27
Objective:
The upper lumbar region has distinctive anatomical characteristics that contribute to the challenges of performing discectomy. We introduce far-lateral transforaminal unilateral biportal endoscopic (UBE) lumbar discectomy for central or paracentral disc herniations in the upper lumbar region.
Methods:
We conducted retrospective review of the patients who underwent a far-lateral transforaminal UBE lumbar discectomy at our institution from January 2018 to September 2024. The electronic medical records, operative records, and radiologic images of the patients were reviewed.
Results:
A total of 27 patients underwent far-lateral transforaminal UBE lumbar discectomy for central or paracentral disc herniations in the upper lumbar region. The patient had a mean age of 54.0 ± 13.7 years. Operation was performed at the L1–2 level in 3 patients (11.1%), L2–3 in 9 patients (33.3%), and L3–4 in 15 patients (55.6%). The patients were followed-up for a mean of 27.7 ± 19.3 months. The Oswestry Disability Index was significantly decreased from 36.3 ± 6.8 preoperatively to 3.7 ± 3.3 at last follow-up (p < 0.001). The visual analogue scale (VAS) back was significantly decreased from 7.8 ± 0.9 preoperatively to 3.1 ± 0.6 postoperative day 2 (p < 0.001). The VAS leg was significantly decreased from 8.1 ± 0.8 preoperatively to 2.3 ± 0.7 postoperative day 2 (p < 0.001).
Conclusion
The far-lateral transforaminal UBE lumbar discectomy would be a viable surgical option for upper lumbar disc herniations.
4.Clinical practice in office hysteroscopy
Namkung JEONG ; Angela CHO ; Yu-Jin KOO ; Jun-Woo AHN ; Hyuntae PARK ; Eun Sil LEE ; Sang Wook YI ; Won Duk JOO ; Sang-Hoon LEE ; Jae Kwan LEE ; Sa Ra LEE ;
Obstetrics & Gynecology Science 2025;68(3):175-185
Hysteroscopy is particularly valuable for the diagnosis of uterine cavity abnormalities through direct visualization. The development of office hysteroscopy has expanded the range of diagnostic and surgical procedures available. These detailed guidelines include patient counseling and the selection and setting of office hysteroscopy, including room, equipment, and medical staff. Analgesia or local anesthesia is often required in selective office hysteroscopy cases. Cervical dilation and preparation using medical or mechanical methods are required for most diagnostic hysteroscopic procedures. Methods for optimizing visualization and choosing suitable distension media are important for a successful office hysteroscopy. It is crucial to adhere to guidelines to prevent complications, such as vasovagal syncope, cervical trauma, uterine perforation, fluid overload, and embolism. Vaginoscopy can be a good alternative option for alleviating pain, especially in cases where the insertion of a vaginal speculum is expected to be challenging.
5.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.Far-Lateral Transforaminal Unilateral Biportal Endoscopic Lumbar Discectomy for Upper Lumbar Disc Herniations
Jin Seop HWANG ; Sang Hyub LEE ; Dain JEONG ; Jae-Won JANG ; Yong Eun CHO ; Dong-Geun LEE ; Choon Keun PARK ; Chung Kee CHOUGH
Neurospine 2025;22(1):14-27
Objective:
The upper lumbar region has distinctive anatomical characteristics that contribute to the challenges of performing discectomy. We introduce far-lateral transforaminal unilateral biportal endoscopic (UBE) lumbar discectomy for central or paracentral disc herniations in the upper lumbar region.
Methods:
We conducted retrospective review of the patients who underwent a far-lateral transforaminal UBE lumbar discectomy at our institution from January 2018 to September 2024. The electronic medical records, operative records, and radiologic images of the patients were reviewed.
Results:
A total of 27 patients underwent far-lateral transforaminal UBE lumbar discectomy for central or paracentral disc herniations in the upper lumbar region. The patient had a mean age of 54.0 ± 13.7 years. Operation was performed at the L1–2 level in 3 patients (11.1%), L2–3 in 9 patients (33.3%), and L3–4 in 15 patients (55.6%). The patients were followed-up for a mean of 27.7 ± 19.3 months. The Oswestry Disability Index was significantly decreased from 36.3 ± 6.8 preoperatively to 3.7 ± 3.3 at last follow-up (p < 0.001). The visual analogue scale (VAS) back was significantly decreased from 7.8 ± 0.9 preoperatively to 3.1 ± 0.6 postoperative day 2 (p < 0.001). The VAS leg was significantly decreased from 8.1 ± 0.8 preoperatively to 2.3 ± 0.7 postoperative day 2 (p < 0.001).
Conclusion
The far-lateral transforaminal UBE lumbar discectomy would be a viable surgical option for upper lumbar disc herniations.
8.Clinical practice in office hysteroscopy
Namkung JEONG ; Angela CHO ; Yu-Jin KOO ; Jun-Woo AHN ; Hyuntae PARK ; Eun Sil LEE ; Sang Wook YI ; Won Duk JOO ; Sang-Hoon LEE ; Jae Kwan LEE ; Sa Ra LEE ;
Obstetrics & Gynecology Science 2025;68(3):175-185
Hysteroscopy is particularly valuable for the diagnosis of uterine cavity abnormalities through direct visualization. The development of office hysteroscopy has expanded the range of diagnostic and surgical procedures available. These detailed guidelines include patient counseling and the selection and setting of office hysteroscopy, including room, equipment, and medical staff. Analgesia or local anesthesia is often required in selective office hysteroscopy cases. Cervical dilation and preparation using medical or mechanical methods are required for most diagnostic hysteroscopic procedures. Methods for optimizing visualization and choosing suitable distension media are important for a successful office hysteroscopy. It is crucial to adhere to guidelines to prevent complications, such as vasovagal syncope, cervical trauma, uterine perforation, fluid overload, and embolism. Vaginoscopy can be a good alternative option for alleviating pain, especially in cases where the insertion of a vaginal speculum is expected to be challenging.
9.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.
10.Delayed Diagnosis of Imported Cystic Echinococcosis and Successful Treatment With Percutaneous Drainage and Albendazole in Korea: A Case Report
Won Jun CHOI ; Hanna JIN ; Hyeon Jae JO ; Chan Mi LEE ; Chang Kyung KANG ; Pyoeng Gyun CHOE ; Wan Beom PARK ; Nam Joong KIM ; Min-Ho CHOI
Journal of Korean Medical Science 2025;40(4):e88-
Echinococcosis, caused by the tapeworm Echinococcus, is rare in Korea and is primarily imported from endemic areas. We report a case of a 37-year-old Korean man with multiple large hepatic cysts, initially diagnosed as simple cysts at a local clinic in 2018. The patient had lived in Oman, an endemic area, for several months in 2016. Upon referral to a tertiary hospital in 2023, due to progressive cyst enlargement, liver magnetic resonance imaging revealed three large cysts with a water lily sign. Serum IgG against Echinococcus was positive by enzyme-linked immunosorbent assay. After diagnosis of echinococcosis, treatment with albendazole and puncture-aspiration-injection-reaspiration (PAIR) was performed.Microscopic and molecular analysis of cyst aspirates confirmed Echinococcus granulosus infection. Follow-up computed tomography demonstrated a reduction in cyst size, yet the emergence of a new right pleural effusion and consolidation in the left lower lobe of the lung necessitated the continuation of albendazole therapy. This case highlights the importance of thorough travel history, imaging findings, and the effectiveness of PAIR combined with albendazole in treating imported echinococcosis.

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