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.Lifestyle Changes and Remission in Patients With New-Onset Type 2Diabetes: A Nationwide Cohort Study
Jinyoung KIM ; Bongseong KIM ; Mee Kyoung KIM ; Ki-Hyun BAEK ; Ki-Ho SONG ; Kyungdo HAN ; Hyuk-Sang KWON
Journal of Korean Medical Science 2025;40(7):e24-
Background:
Lifestyle-related factors have been studied as a fundamental aspect in the onset and progression of type 2 diabetes mellitus. However, behavioral factors are easily overlooked in clinical practice. This study investigated whether lifestyle changes were associated with diabetes remission in newly diagnosed type 2 diabetes patients.
Methods:
We enrolled patients with new-onset type 2 diabetes from 2009 to 2012 using a health examination cohort from the Korean National Health Insurance Service (KNHIS).Remission was defined as a fasting glucose level less than 126 mg/dL at least once during a health examination after stopping medication. A self-administered questionnaire was used to investigate patients’ lifestyles. We investigated smoking, alcohol consumption, and regular exercise before and after starting diabetes medication and the odds ratios (ORs) of logistic regression on remission to evaluate the associations.
Results:
A total of 138,211 patients diagnosed with type 2 diabetes from 2009 to 2012 were analyzed, and 8,192 (6.3%) reported remission during the follow-up period to 2017. Baseline fasting blood glucose level measured before starting diabetes medication was significantly higher in the non-remission group (180 mg/dL vs. 159 mg/dL, P < 0.001). In addition, the use rate of combined oral hypoglycemic agent treatment was higher in the non-remission group (15% vs. 8%, P < 0.001). Consistent smoking and drinking showed negative associations with remission (OR, 0.72; 95% confidence interval [CI], 0.67–0.77 and OR, 0.90; 95% CI, 0.84– 0.95, respectively), and initiation of regular exercise presented a positive association with remission (OR, 1.54; 95% CI, 0.46–1.63). Abstinence from alcohol increased the likelihood of remission in the male population (OR, 1.20; 95% CI, 1.10–1.32). The association with smoking history or smoking cessation was not clear, but new smoking behavior interfered with remission in women (OR, 0.48; 95% CI, 0.28–0.81).
Conclusion
We confirmed associations between a healthy lifestyle and diabetic remission in new-onset type 2 diabetes patients. The results of this study suggest that improving lifestyle after diabetes diagnosis may contribute to disease remission.
3.The impact of the laboratory quality management program on colorectal cancer screening using immunochemical fecal occult blood tests in Korea
Hye Ryun LEE ; Sollip KIM ; Hyeongsu KIM ; Yeo-Min YUN ; Ho Jin JEONG ; Minje HAN ; Myeong Hee KIM ; Tae-Hyun UM ; You Kyoung LEE ; Byung Ryul JEON ; Kunsei LEE ; Sail CHUN
Journal of the Korean Medical Association 2025;68(5):338-347
Purpose:
Immunochemical fecal occult blood tests (iFOBT) have been utilized as the primary method for colorectal cancer screening within Korea's National Cancer Screening Program. This study aimed to evaluate the impact of the accreditation program for clinical laboratories and external quality assessment (EQA) programs on colorectal cancer screening.
Methods:
We analyzed the false-positive rates of iFOBT in colorectal cancer screening from 2016 to 2020 according to participation and performance in the Outstanding Laboratory Accreditation Program (OLAP) conducted by the Laboratory Medicine Foundation, and the External Quality Assessment programs run by the Korean Association of External Quality Assessment Service.
Results:
False-positive rates of iFOBT were lower among institutions accredited by OLAP (2.35%) compared with non-accredited (3.04%) and non-participating institutions (5.60%). Similarly, institutions participating in the EQA program exhibited lower false-positive rates (3.79%) compared to non-participants (7.04%). Within the iFOBT-specific EQA program, institutions that passed demonstrated the lowest false-positive rate (3.37%), while failing institutions showed the highest rate (9.07%), surpassing even non-participating institutions (6.44%).
Conclusion
Participation in quality management programs such as OLAP and EQA was associated with lower false-positive rates in iFOBT for colorectal cancer screening. These findings suggest that quality management initiatives can increase the accuracy of iFOBT, potentially improving the effectiveness of colorectal cancer screening programs, and reducing unnecessary follow-up procedures and associated healthcare costs.
4.Preliminary Analysis of Drug-Induced Ototoxicity in South Korea: Trends From a National Sample Dataset
Zahra ALDAHAN ; Jiwon KIM ; Chul young YOON ; Young Joon SEO ; Kyoung Ho PARK
Journal of Audiology & Otology 2025;29(2):110-116
Background and Objectives:
Certain medications are associated with ototoxicity. This study assesses drug-induced ototoxicity in South Korea by analyzing the Korean national health data.
Subjects and Methods:
Hospital records of National Health Insurance members from 2009 to 2016 were reviewed. Data were compared between patients with and without hearing loss (HL). Individuals with HL were identified as having a primary diagnosis code for sensorineural HL or another type of HL in at least one outpatient or inpatient record according to the International Classification of Diseases-10.
Results:
The members in the HL group increased slightly from 0.8% to 1.0% relative to the total sample, compared with 99.2% to 99.0% among the controls. The proportion of males in the HL group ranged from 45.6% to 47.6%, compared with 48.4% to 48.8% among the controls. The proportion of those aged ≥65 years in the HL group increased from 34.1% to 41.4%, compared with 10.6% to 13.3% among the controls. Hypertension prevalence (24.7%-25.7%) in the HL group was higher than that in the control group (12%-12.6%). Diabetes prevalence in the HL group was 10.6%-12.3%, compared with 4.4%-5.9% among the controls. The use of proton pump inhibitor components increased, particularly esomeprazole magnesium trihydrate and rabeprazole sodium, whereas the usage of pantoprazole sodium sesquihydrate and revaprazan was high initially but declined subsequently. The usage of painkillers such as acetaminophen, loxoprofen sodium, and ibuprofen remained high, and antibiotics such as cephalosporins indicated the highest usage. However, the use of penicillin antibiotics such as amoxicillin decreased significantly. Anticancer agents showed relatively low usage compared with other drug categories, whereas antihistamines showed extremely high usage across all years, with a continual increase.
Conclusions
These correlations and the underlying mechanisms necessitate further investigation, as several medicines have been linked to an increased risk of HL.
5.Deep Learning Technology for Classification of Thyroid Nodules Using Multi-View Ultrasound Images: Potential Benefits and Challenges in Clinical Application
Jinyoung KIM ; Min-Hee KIM ; Dong-Jun LIM ; Hankyeol LEE ; Jae Jun LEE ; Hyuk-Sang KWON ; Mee Kyoung KIM ; Ki-Ho SONG ; Tae-Jung KIM ; So Lyung JUNG ; Yong Oh LEE ; Ki-Hyun BAEK
Endocrinology and Metabolism 2025;40(2):216-224
Background:
This study aimed to evaluate the applicability of deep learning technology to thyroid ultrasound images for classification of thyroid nodules.
Methods:
This retrospective analysis included ultrasound images of patients with thyroid nodules investigated by fine-needle aspiration at the thyroid clinic of a single center from April 2010 to September 2012. Thyroid nodules with cytopathologic results of Bethesda category V (suspicious for malignancy) or VI (malignant) were defined as thyroid cancer. Multiple deep learning algorithms based on convolutional neural networks (CNNs) —ResNet, DenseNet, and EfficientNet—were utilized, and Siamese neural networks facilitated multi-view analysis of paired transverse and longitudinal ultrasound images.
Results:
Among 1,048 analyzed thyroid nodules from 943 patients, 306 (29%) were identified as thyroid cancer. In a subgroup analysis of transverse and longitudinal images, longitudinal images showed superior prediction ability. Multi-view modeling, based on paired transverse and longitudinal images, significantly improved the model performance; with an accuracy of 0.82 (95% confidence intervals [CI], 0.80 to 0.86) with ResNet50, 0.83 (95% CI, 0.83 to 0.88) with DenseNet201, and 0.81 (95% CI, 0.79 to 0.84) with EfficientNetv2_ s. Training with high-resolution images obtained using the latest equipment tended to improve model performance in association with increased sensitivity.
Conclusion
CNN algorithms applied to ultrasound images demonstrated substantial accuracy in thyroid nodule classification, indicating their potential as valuable tools for diagnosing thyroid cancer. However, in real-world clinical settings, it is important to aware that model performance may vary depending on the quality of images acquired by different physicians and imaging devices.
6.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.
7.Lifestyle Changes and Remission in Patients With New-Onset Type 2Diabetes: A Nationwide Cohort Study
Jinyoung KIM ; Bongseong KIM ; Mee Kyoung KIM ; Ki-Hyun BAEK ; Ki-Ho SONG ; Kyungdo HAN ; Hyuk-Sang KWON
Journal of Korean Medical Science 2025;40(7):e24-
Background:
Lifestyle-related factors have been studied as a fundamental aspect in the onset and progression of type 2 diabetes mellitus. However, behavioral factors are easily overlooked in clinical practice. This study investigated whether lifestyle changes were associated with diabetes remission in newly diagnosed type 2 diabetes patients.
Methods:
We enrolled patients with new-onset type 2 diabetes from 2009 to 2012 using a health examination cohort from the Korean National Health Insurance Service (KNHIS).Remission was defined as a fasting glucose level less than 126 mg/dL at least once during a health examination after stopping medication. A self-administered questionnaire was used to investigate patients’ lifestyles. We investigated smoking, alcohol consumption, and regular exercise before and after starting diabetes medication and the odds ratios (ORs) of logistic regression on remission to evaluate the associations.
Results:
A total of 138,211 patients diagnosed with type 2 diabetes from 2009 to 2012 were analyzed, and 8,192 (6.3%) reported remission during the follow-up period to 2017. Baseline fasting blood glucose level measured before starting diabetes medication was significantly higher in the non-remission group (180 mg/dL vs. 159 mg/dL, P < 0.001). In addition, the use rate of combined oral hypoglycemic agent treatment was higher in the non-remission group (15% vs. 8%, P < 0.001). Consistent smoking and drinking showed negative associations with remission (OR, 0.72; 95% confidence interval [CI], 0.67–0.77 and OR, 0.90; 95% CI, 0.84– 0.95, respectively), and initiation of regular exercise presented a positive association with remission (OR, 1.54; 95% CI, 0.46–1.63). Abstinence from alcohol increased the likelihood of remission in the male population (OR, 1.20; 95% CI, 1.10–1.32). The association with smoking history or smoking cessation was not clear, but new smoking behavior interfered with remission in women (OR, 0.48; 95% CI, 0.28–0.81).
Conclusion
We confirmed associations between a healthy lifestyle and diabetic remission in new-onset type 2 diabetes patients. The results of this study suggest that improving lifestyle after diabetes diagnosis may contribute to disease remission.
8.The impact of the laboratory quality management program on colorectal cancer screening using immunochemical fecal occult blood tests in Korea
Hye Ryun LEE ; Sollip KIM ; Hyeongsu KIM ; Yeo-Min YUN ; Ho Jin JEONG ; Minje HAN ; Myeong Hee KIM ; Tae-Hyun UM ; You Kyoung LEE ; Byung Ryul JEON ; Kunsei LEE ; Sail CHUN
Journal of the Korean Medical Association 2025;68(5):338-347
Purpose:
Immunochemical fecal occult blood tests (iFOBT) have been utilized as the primary method for colorectal cancer screening within Korea's National Cancer Screening Program. This study aimed to evaluate the impact of the accreditation program for clinical laboratories and external quality assessment (EQA) programs on colorectal cancer screening.
Methods:
We analyzed the false-positive rates of iFOBT in colorectal cancer screening from 2016 to 2020 according to participation and performance in the Outstanding Laboratory Accreditation Program (OLAP) conducted by the Laboratory Medicine Foundation, and the External Quality Assessment programs run by the Korean Association of External Quality Assessment Service.
Results:
False-positive rates of iFOBT were lower among institutions accredited by OLAP (2.35%) compared with non-accredited (3.04%) and non-participating institutions (5.60%). Similarly, institutions participating in the EQA program exhibited lower false-positive rates (3.79%) compared to non-participants (7.04%). Within the iFOBT-specific EQA program, institutions that passed demonstrated the lowest false-positive rate (3.37%), while failing institutions showed the highest rate (9.07%), surpassing even non-participating institutions (6.44%).
Conclusion
Participation in quality management programs such as OLAP and EQA was associated with lower false-positive rates in iFOBT for colorectal cancer screening. These findings suggest that quality management initiatives can increase the accuracy of iFOBT, potentially improving the effectiveness of colorectal cancer screening programs, and reducing unnecessary follow-up procedures and associated healthcare costs.
9.Radiofrequency Ablation for Recurrent Thyroid Cancers:2025 Korean Society of Thyroid Radiology Guideline
Eun Ju HA ; Min Kyoung LEE ; Jung Hwan BAEK ; Hyun Kyung LIM ; Hye Shin AHN ; Seon Mi BAEK ; Yoon Jung CHOI ; Sae Rom CHUNG ; Ji-hoon KIM ; Jae Ho SHIN ; Ji Ye LEE ; Min Ji HONG ; Hyun Jin KIM ; Leehi JOO ; Soo Yeon HAHN ; So Lyung JUNG ; Chang Yoon LEE ; Jeong Hyun LEE ; Young Hen LEE ; Jeong Seon PARK ; Jung Hee SHIN ; Jin Yong SUNG ; Miyoung CHOI ; Dong Gyu NA ;
Korean Journal of Radiology 2025;26(1):10-28
Radiofrequency ablation (RFA) is a minimally invasive treatment modality used as an alternative to surgery in patients with benign thyroid nodules, recurrent thyroid cancers (RTCs), and primary thyroid microcarcinomas. The Korean Society of Thyroid Radiology (KSThR) initially developed recommendations for the optimal use of RFA for thyroid tumors in 2009 and revised them in 2012 and 2017. As new meaningful evidence has accumulated since 2017 and in response to a growing global interest in the use of RFA for treating malignant thyroid lesions, the task force committee members of the KSThR decided to update the guidelines on the use of RFA for the management of RTCs based on a comprehensive analysis of current literature and expert consensus.
10.Environmental disease monitoring by regional Environmental Health Centers in Korea: a narrative review
Myung-Sook PARK ; Hwan-Cheol KIM ; Woo Jin KIM ; Yun-Chul HONG ; Won-Jun CHOI ; Seock-Yeon HWANG ; Jiho LEE ; Young-Seoub HONG ; Yong-Dae KIM ; Seong-Chul HONG ; Joo Hyun SUNG ; Inchul JEONG ; Kwan LEE ; Won-Ju PARK ; Hyun-Joo BAE ; Seong-Yong YOON ; Cheolmin LEE ; Kyoung Sook JEONG ; Sanghyuk BAE ; Jinhee CHOI ; Ho-Hyun KIM
The Ewha Medical Journal 2025;48(1):e3-
This study explores the development, roles, and key initiatives of the Regional Environmental Health Centers in Korea, detailing their evolution through four distinct phases and their impact on environmental health policy and local governance. It chronicles the establishment and transformation of these centers from their inception in May 2007, through four developmental stages. Originally named Environmental Disease Research Centers, they were subsequently renamed Environmental Health Centers following legislative changes. The analysis includes the expansion in the number of centers, the transfer of responsibilities to local governments, and the launch of significant projects such as the Korean Children’s Environmental Health Study (Ko-CHENS ). During the initial phase (May 2007–February 2009), the 10 centers concentrated on research-driven activities, shifting from a media-centered to a receptor-centered approach. In the second phase, prompted by the enactment of the Environmental Health Act, six additional centers were established, broadening their scope to address national environmental health issues. The third phase introduced Ko-CHENS, a 20-year national cohort project designed to influence environmental health policy by integrating research findings into policy frameworks. The fourth phase marked a decentralization of authority, empowering local governments and redefining the centers' roles to focus on regional environmental health challenges. The Regional Environmental Health Centers have significantly evolved and now play a crucial role in addressing local environmental health issues and supporting local government policies. Their capacity to adapt and respond to region-specific challenges is essential for the effective implementation of environmental health policies, reflecting geographical, socioeconomic, and demographic differences.

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