1.Identification of Mutations of the RYR2 in Sudden Infant Death Syndrome
Min-Jeong SON ; Min-Kyoung KIM ; Seong Ho YOO
Journal of Korean Medical Science 2025;40(6):e17-
Background:
Despite efforts by the National Education on Sleeping Environment to reduce sudden infant death syndrome (SIDS), it remains the leading cause of post-neonatal mortality. In Korea, the incidence of SIDS was estimated at 0.4 per 1,000 infants in 2022. Mutations in the ryanodine receptor 2 ( RYR2) gene, known to be associated with catecholaminergic polymorphic ventricular tachycardia, have been implicated in cases of sudden death. However, genetic studies investigating the link between RYR2 mutations and SIDS have not been conducted in Korea.
Methods:
We extracted DNA from archived formalin-fixed, paraffin-embedded myocardial tissues from 249 SIDS cases autopsied between 2005 and 2017. DNA analysis focused on sequencing key exons (3, 8, 14, 15, 37, 42, 44–47, 49, 50, 83, 87–91, 93–95, 97, 99, and 100–105) of the RYR2 gene, critical for its functional role.
Results:
Among the 249 SIDS cases, 62% were male infants, with an average age of 124 days, all of Asian-Korean descent. We identified two previously unreported RYR2 variants in two Korean patients with SIDS, namely c.13175A>G (p.Lys4392Arg) and c.4652A>G (p.Asn1551Ser).
Conclusion
Our study identified two RYR2 variants (c.13175A>G/p.Lys4392Arg and c.4652A>G/p.Asn1551Ser) associated with SIDS through postmortem genetic analysis.Given the limited diagnostic yield, our findings underscore the importance of selectively performing molecular autopsies in cases with documented familial clinical history. This approach aims to enhance the quality of genetic counseling available to affected families.
2.Etiology and Clinical Prediction of Community-Acquired Lower Respiratory Tract Infection in Children
Byungsun YOO ; Ilha YUNE ; Dayeon KANG ; Youngmin CHO ; Sung Yoon LIM ; Sooyoung YOO ; Miyoung KIM ; June Sung KIM ; Daehwan KIM ; Ho Young LEE ; Rong-Min BAEK ; Se Young JUNG ; Eu Suk KIM ; Hyunju LEE
Journal of Korean Medical Science 2025;40(2):e5-
Background:
Community acquired lower respiratory tract infection (LRTI) is a leading cause for hospitalization in children and important cause for antibiotic prescription. We aimed to describe the aetiology of LRTI in children and analyse factors associated with bacterial or viral infection.
Methods:
Patients aged < 19 years with a diagnosis of LRTI were identified from the Observational Medical Outcomes Partnership Common Data Model Database of Seoul National University Bundang Hospital from January 2005–July 2019, and their clinical characteristics were obtained from the electronic medical records and retrospectively reviewed.
Results:
Among 5,924 cases of LRTI, 74.2% were pneumonia and 25.8% were bronchiolitis/ bronchitis. Patients’ median age was 1.8 (interquartile range, 3.1) years and 79.9% were < 5 years old. Pathogens were identified in 37.8%; 69.1% were viral and 30.9% were bacterial/ Mycoplasma pneumoniae. Respiratory syncytial virus was most common (70.9%) among viruses and M. pneumoniae (94.6%) was most common among bacteria. Viral LRTI was associated with winter, age < 2 years, rhinorrhoea, dyspnoea, lymphocytosis, thrombocytosis, wheezing, stridor, chest retraction, and infiltration on imaging. Bacteria/ M. pneumoniae LRTI was associated with summer, age ≥ 2 years, fever, decreased breathing sounds, leucocytosis, neutrophilia, C-reactive protein elevation, and positive imaging findings (consolidation, opacity, haziness, or pleural effusion).
Conclusion
In children with LRTI, various factors associated with viral or bacterial/ M. pneumoniae infections were identified, which may serve as guidance for antibiotic prescription.
3.Identification of Mutations of the RYR2 in Sudden Infant Death Syndrome
Min-Jeong SON ; Min-Kyoung KIM ; Seong Ho YOO
Journal of Korean Medical Science 2025;40(6):e17-
Background:
Despite efforts by the National Education on Sleeping Environment to reduce sudden infant death syndrome (SIDS), it remains the leading cause of post-neonatal mortality. In Korea, the incidence of SIDS was estimated at 0.4 per 1,000 infants in 2022. Mutations in the ryanodine receptor 2 ( RYR2) gene, known to be associated with catecholaminergic polymorphic ventricular tachycardia, have been implicated in cases of sudden death. However, genetic studies investigating the link between RYR2 mutations and SIDS have not been conducted in Korea.
Methods:
We extracted DNA from archived formalin-fixed, paraffin-embedded myocardial tissues from 249 SIDS cases autopsied between 2005 and 2017. DNA analysis focused on sequencing key exons (3, 8, 14, 15, 37, 42, 44–47, 49, 50, 83, 87–91, 93–95, 97, 99, and 100–105) of the RYR2 gene, critical for its functional role.
Results:
Among the 249 SIDS cases, 62% were male infants, with an average age of 124 days, all of Asian-Korean descent. We identified two previously unreported RYR2 variants in two Korean patients with SIDS, namely c.13175A>G (p.Lys4392Arg) and c.4652A>G (p.Asn1551Ser).
Conclusion
Our study identified two RYR2 variants (c.13175A>G/p.Lys4392Arg and c.4652A>G/p.Asn1551Ser) associated with SIDS through postmortem genetic analysis.Given the limited diagnostic yield, our findings underscore the importance of selectively performing molecular autopsies in cases with documented familial clinical history. This approach aims to enhance the quality of genetic counseling available to affected families.
4.Etiology and Clinical Prediction of Community-Acquired Lower Respiratory Tract Infection in Children
Byungsun YOO ; Ilha YUNE ; Dayeon KANG ; Youngmin CHO ; Sung Yoon LIM ; Sooyoung YOO ; Miyoung KIM ; June Sung KIM ; Daehwan KIM ; Ho Young LEE ; Rong-Min BAEK ; Se Young JUNG ; Eu Suk KIM ; Hyunju LEE
Journal of Korean Medical Science 2025;40(2):e5-
Background:
Community acquired lower respiratory tract infection (LRTI) is a leading cause for hospitalization in children and important cause for antibiotic prescription. We aimed to describe the aetiology of LRTI in children and analyse factors associated with bacterial or viral infection.
Methods:
Patients aged < 19 years with a diagnosis of LRTI were identified from the Observational Medical Outcomes Partnership Common Data Model Database of Seoul National University Bundang Hospital from January 2005–July 2019, and their clinical characteristics were obtained from the electronic medical records and retrospectively reviewed.
Results:
Among 5,924 cases of LRTI, 74.2% were pneumonia and 25.8% were bronchiolitis/ bronchitis. Patients’ median age was 1.8 (interquartile range, 3.1) years and 79.9% were < 5 years old. Pathogens were identified in 37.8%; 69.1% were viral and 30.9% were bacterial/ Mycoplasma pneumoniae. Respiratory syncytial virus was most common (70.9%) among viruses and M. pneumoniae (94.6%) was most common among bacteria. Viral LRTI was associated with winter, age < 2 years, rhinorrhoea, dyspnoea, lymphocytosis, thrombocytosis, wheezing, stridor, chest retraction, and infiltration on imaging. Bacteria/ M. pneumoniae LRTI was associated with summer, age ≥ 2 years, fever, decreased breathing sounds, leucocytosis, neutrophilia, C-reactive protein elevation, and positive imaging findings (consolidation, opacity, haziness, or pleural effusion).
Conclusion
In children with LRTI, various factors associated with viral or bacterial/ M. pneumoniae infections were identified, which may serve as guidance for antibiotic prescription.
5.Evaluating Rituximab Failure Rates in Neuromyelitis Optica Spectrum Disorder: A Nationwide Real-World Study From South Korea
Su-Hyun KIM ; Ju-Hong MIN ; Sung-Min KIM ; Eun-Jae LEE ; Young-Min LIM ; Ha Young SHIN ; Young Nam KWON ; Eunhee SOHN ; Sooyoung KIM ; Min Su PARK ; Tai-Seung NAM ; Byeol-A YOON ; Jong Kuk KIM ; Kyong Jin SHIN ; Yoo Hwan KIM ; Jin Myoung SEOK ; Jeong Bin BONG ; Sohyeon KIM ; Hung Youl SEOK ; Sun-Young OH ; Ohyun KWON ; Sunyoung KIM ; Sukyoon LEE ; Nam-Hee KIM ; Eun Bin CHO ; Sa-Yoon KANG ; Seong-il OH ; Jong Seok BAE ; Suk-Won AHN ; Ki Hoon KIM ; You-Ri KANG ; Woohee JU ; Seung Ho CHOO ; Yeon Hak CHUNG ; Jae-Won HYUN ; Ho Jin KIM
Journal of Clinical Neurology 2025;21(2):131-136
Background:
and Purpose Treatments for neuromyelitis optica spectrum disorder (NMOSD) such as eculizumab, ravulizumab, satralizumab, and inebilizumab have significantly advanced relapse prevention, but they remain expensive. Rituximab is an off-label yet popular alternative that offers a cost-effective solution, but its real-world efficacy needs better quantification for guiding the application of newer approved NMOSD treatments (ANTs). This study aimed to determine real-world rituximab failure rates to anticipate the demand for ANTs and aid in resource allocation.
Methods:
We conducted a nationwide retrospective study involving 605 aquaporin-4-antibody-positive NMOSD patients from 22 centers in South Korea that assessed the efficacy and safety of rituximab over a median follow-up of 47 months.
Results:
The 605 patients treated with rituximab included 525 (87%) who received continuous therapy throughout the follow-up period (median=47 months, interquartile range=15–87 months). During this period, 117 patients (19%) experienced at least 1 relapse. Notably, 68 of these patients (11% of the total cohort) experienced multiple relapses or at least 1 severe relapse.Additionally, 2% of the patients discontinued rituximab due to adverse events, which included severe infusion reactions, neutropenia, and infections.
Conclusions
This study has confirmed the efficacy of rituximab in treating NMOSD, as evidenced by an 87% continuation rate among patients over a 4-year follow-up period. Nevertheless, the occurrence of at least one relapse in 19% of the cohort, including 11% who experienced multiple or severe relapses, and a 2% discontinuation rate due to adverse events highlight the urgent need for alternative therapeutic options.
6.Erratum: Korean Gastric Cancer Association-Led Nationwide Survey on Surgically Treated Gastric Cancers in 2023
Dong Jin KIM ; Jeong Ho SONG ; Ji-Hyeon PARK ; Sojung KIM ; Sin Hye PARK ; Cheol Min SHIN ; Yoonjin KWAK ; Kyunghye BANG ; Chung-sik GONG ; Sung Eun OH ; Yoo Min KIM ; Young Suk PARK ; Jeesun KIM ; Ji Eun JUNG ; Mi Ran JUNG ; Bang Wool EOM ; Ki Bum PARK ; Jae Hun CHUNG ; Sang-Il LEE ; Young-Gil SON ; Dae Hoon KIM ; Sang Hyuk SEO ; Sejin LEE ; Won Jun SEO ; Dong Jin PARK ; Yoonhong KIM ; Jin-Jo KIM ; Ki Bum PARK ; In CHO ; Hye Seong AHN ; Sung Jin OH ; Ju-Hee LEE ; Hayemin LEE ; Seong Chan GONG ; Changin CHOI ; Ji-Ho PARK ; Eun Young KIM ; Chang Min LEE ; Jong Hyuk YUN ; Seung Jong OH ; Eunju LEE ; Seong-A JEONG ; Jung-Min BAE ; Jae-Seok MIN ; Hyun-dong CHAE ; Sung Gon KIM ; Daegeun PARK ; Dong Baek KANG ; Hogoon KIM ; Seung Soo LEE ; Sung Il CHOI ; Seong Ho HWANG ; Su-Mi KIM ; Moon Soo LEE ; Sang Hyun KIM ; Sang-Ho JEONG ; Yusung YANG ; Yonghae BAIK ; Sang Soo EOM ; Inho JEONG ; Yoon Ju JUNG ; Jong-Min PARK ; Jin Won LEE ; Jungjai PARK ; Ki Han KIM ; Kyung-Goo LEE ; Jeongyeon LEE ; Seongil OH ; Ji Hun PARK ; Jong Won KIM ;
Journal of Gastric Cancer 2025;25(2):400-402
7.Comparison of Reduced Port Gastrectomy and Multiport Gastrectomy in Korea: Ad Hoc Analysis and Nationwide Survey on Gastric Cancer 2019
Duyeong HWANG ; Mira YOO ; Guan Hong MIN ; Eunju LEE ; So Hyun KANG ; Young Suk PARK ; Sang-Hoon AHN ; Hyung-Ho KIM ; Yun-Suhk SUH ;
Journal of Gastric Cancer 2025;25(2):330-342
Purpose:
This study aimed to evaluate the outcomes and current status of reduced-port laparoscopic distal gastrectomy (RLDG) compared with multiport laparoscopic distal gastrectomy (MLDG) based on a 2019 nationwide survey of surgical gastric cancer treatments by the Korean Gastric Cancer Association (KGCA).
Materials and Methods:
The study was conducted retrospectively from March to December 2020 using data from the 2019 KGCA nationwide survey database. To compare RLDG and MLDG based on age, sex, body mass index, American Society of Anesthesiologists score, histological type, tumor invasion, and lymph node metastasis, propensity score matching was performed.
Results:
Of the 14,076 registered patients with gastric cancer, the five-port approach was the most favored for multiport gastrectomy, accounting for 6,396 (70.9%) cases, followed by the four-port approach, with 1,462 (16.2%) cases. The single-port approach was used in 303 (3.4%) cases, the two-port approach in 95 (1.1%) cases, and the three-port approach in 731 (8.1%) cases. RLDG was performed in 805 patients (6.4%), MLDG was conducted in 4,831 patients (34.3%), and 804 patients were 1:1 matched in each group. The average operation time was shorter in the RLDG (168.2±49.1 min vs. 179.5±61.5 min, P<0.001). No significant difference was found in blood loss (84.8±115.9 cc vs. 75.5±119.6 cc, P=0.152), overall complication rates (11.3% vs. 13.1%, P=0.254), or complications ≥ to grade IIIa (3.2% vs. 4.4%, P=0.240).
Conclusions
This study revealed that RLDG is a safe and effective surgical option for gastric cancer with the potential to offer shorter operation times without increasing the risk of complications.
8.Korean Gastric Cancer AssociationLed Nationwide Survey on Surgically Treated Gastric Cancers in 2023
Dong Jin KIM ; Jeong Ho SONG ; Ji-Hyeon PARK ; Sojung KIM ; Sin Hye PARK ; Cheol Min SHIN ; Yoonjin KWAK ; Kyunghye BANG ; Chung-sik GONG ; Sung Eun OH ; Yoo Min KIM ; Young Suk PARK ; Jeesun KIM ; Ji Eun JUNG ; Mi Ran JUNG ; Bang Wool EOM ; Ki Bum PARK ; Jae Hun CHUNG ; Sang-Il LEE ; Young-Gil SON ; Dae Hoon KIM ; Sang Hyuk SEO ; Sejin LEE ; Won Jun SEO ; Dong Jin PARK ; Yoonhong KIM ; Jin-Jo KIM ; Ki Bum PARK ; In CHO ; Hye Seong AHN ; Sung Jin OH ; Ju-Hee LEE ; Hayemin LEE ; Seong Chan GONG ; Changin CHOI ; Ji-Ho PARK ; Eun Young KIM ; Chang Min LEE ; Jong Hyuk YUN ; Seung Jong OH ; Eunju LEE ; Seong-A JEONG ; Jung-Min BAE ; Jae-Seok MIN ; Hyun-dong CHAE ; Sung Gon KIM ; Daegeun PARK ; Dong Baek KANG ; Hogoon KIM ; Seung Soo LEE ; Sung Il CHOI ; Seong Ho HWANG ; Su-Mi KIM ; Moon Soo LEE ; Sang Hyun KIM ; Sang-Ho JEONG ; Yusung YANG ; Yonghae BAIK ; Sang Soo EOM ; Inho JEONG ; Yoon Ju JUNG ; Jong-Min PARK ; Jin Won LEE ; Jungjai PARK ; Ki Han KIM ; Kyung-Goo LEE ; Jeongyeon LEE ; Seongil OH ; Ji Hun PARK ; Jong Won KIM ; The Information Committee of the Korean Gastric Cancer Association
Journal of Gastric Cancer 2025;25(1):115-132
Purpose:
Since 1995, the Korean Gastric Cancer Association (KGCA) has been periodically conducting nationwide surveys on patients with surgically treated gastric cancer. This study details the results of the survey conducted in 2023.
Materials and Methods:
The survey was conducted from March to December 2024 using a standardized case report form. Data were collected on 86 items, including patient demographics, tumor characteristics, surgical procedures, and surgical outcomes. The results of the 2023 survey were compared with those of previous surveys.
Results:
Data from 12,751 cases were collected from 66 institutions. The mean patient age was 64.6 years, and the proportion of patients aged ≥71 years increased from 9.1% in 1995 to 31.7% in 2023. The proportion of upper-third tumors slightly decreased to 16.8% compared to 20.9% in 2019. Early gastric cancer accounted for 63.1% of cases in 2023.Regarding operative procedures, a totally laparoscopic approach was most frequently applied (63.2%) in 2023, while robotic gastrectomy steadily increased to 9.5% from 2.1% in 2014.The most common anastomotic method was the Billroth II procedure (48.8%) after distal gastrectomy and double-tract reconstruction (51.9%) after proximal gastrectomy in 2023.However, the proportion of esophago-gastrostomy with anti-reflux procedures increased to 30.9%. The rates of post-operative mortality and overall complications were 1.0% and 15.3%, respectively.
Conclusions
The results of the 2023 nationwide survey demonstrate the current status of gastric cancer treatment in Korea. This information will provide a basis for future gastric cancer research.
9.Palliative Care and Hospice for Heart Failure Patients: Position Statement From the Korean Society of Heart Failure
Seung-Mok LEE ; Hae-Young LEE ; Shin Hye YOO ; Hyun-Jai CHO ; Jong-Chan YOUN ; Seong-Mi PARK ; Jin-Ok JEONG ; Min-Seok KIM ; Chi Young SHIM ; Jin Joo PARK ; Kye Hun KIM ; Eung Ju KIM ; Jeong Hoon YANG ; Jae Yeong CHO ; Sang-Ho JO ; Kyung-Kuk HWANG ; Ju-Hee LEE ; In-Cheol KIM ; Gi Beom KIM ; Jung Hyun CHOI ; Sung-Hee SHIN ; Wook-Jin CHUNG ; Seok-Min KANG ; Myeong Chan CHO ; Dae-Gyun PARK ; Byung-Su YOO
International Journal of Heart Failure 2025;7(1):32-46
Heart failure (HF) is a major cause of mortality and morbidity in South Korea, imposing substantial physical, emotional, and financial burdens on patients and society. Despite the high burden of symptom and complex care needs of HF patients, palliative care and hospice services remain underutilized in South Korea due to cultural, institutional, and knowledge-related barriers. This position statement from the Korean Society of Heart Failure emphasizes the need for integrating palliative and hospice care into HF management to improve quality of life and support holistic care for patients and their families. By clarifying the role of palliative care in HF and proposing practical referral criteria, this position statement aims to bridge the gap between HF and palliative care services in South Korea, ultimately improving patient-centered outcomes and aligning treatment with the goals and values of HF patients.
10.Clinical Practice Guidelines for Dementia: Recommendations for Cholinesterase Inhibitors and Memantine
Yeshin KIM ; Dong Woo KANG ; Geon Ha KIM ; Ko Woon KIM ; Hee-Jin KIM ; Seunghee NA ; Kee Hyung PARK ; Young Ho PARK ; Gihwan BYEON ; Jeewon SUH ; Joon Hyun SHIN ; YongSoo SHIM ; YoungSoon YANG ; Yoo Hyun UM ; Seong-il OH ; Sheng-Min WANG ; Bora YOON ; Sun Min LEE ; Juyoun LEE ; Jin San LEE ; Jae-Sung LIM ; Young Hee JUNG ; Juhee CHIN ; Hyemin JANG ; Miyoung CHOI ; Yun Jeong HONG ; Hak Young RHEE ; Jae-Won JANG ;
Dementia and Neurocognitive Disorders 2025;24(1):1-23
Background:
and Purpose: This clinical practice guideline provides evidence-based recommendations for treatment of dementia, focusing on cholinesterase inhibitors and N-methyl-D-aspartate (NMDA) receptor antagonists for Alzheimer’s disease (AD) and other types of dementia.
Methods:
Using the Population, Intervention, Comparison, Outcomes (PICO) framework, we developed key clinical questions and conducted systematic literature reviews. A multidisciplinary panel of experts, organized by the Korean Dementia Association, evaluated randomized controlled trials and observational studies. Recommendations were graded for evidence quality and strength using Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) methodology.
Results:
Three main recommendations are presented: (1) For AD, cholinesterase inhibitors (donepezil, rivastigmine, galantamine) are strongly recommended for improving cognition and daily function based on moderate evidence; (2) Cholinesterase inhibitors are conditionally recommended for vascular dementia and Parkinson’s disease dementia, with a strong recommendation for Lewy body dementia; (3) For moderate to severe AD, NMDA receptor antagonist (memantine) is strongly recommended, demonstrating significant cognitive and functional improvements. Both drug classes showed favorable safety profiles with manageable side effects.
Conclusions
This guideline offers standardized, evidence-based pharmacologic recommendations for dementia management, with specific guidance on cholinesterase inhibitors and NMDA receptor antagonists. It aims to support clinical decision-making and improve patient outcomes in dementia care. Further updates will address emerging treatments, including amyloid-targeting therapies, to reflect advances in dementia management.

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