1.Sentinel Safety Monitoring System for Adverse Events of Special Interest Associated With Non-NIP Vaccines in Korea
Hakjun HYUN ; Jung Yeon HEO ; Yu Jung CHOI ; Eliel NHAM ; Jin Gu YOON ; Ji Yun NOH ; Joon Young SONG ; Woo Joo KIM ; Won Suk CHOI ; Min Joo CHOI ; Yu Bin SEO ; Jacob LEE ; Hee Jin CHEONG
Journal of Korean Medical Science 2025;40(16):e152-
South Korea’s current vaccination policies leave a surveillance gap for non-National Immunization Program (NIP) vaccines. In this study, we proposed a sentinel surveillance approach for monitoring the safety of non-NIP vaccines. Vaccination data were collected retrospectively among patients hospitalized with pre-defined adverse events of special interest (AESI) by reviewing electronic medical records in five university hospitals. This approach incorporates expert assessment to determine the causal relationship. We confirmed that 16 patients had received non-NIP vaccines among 860 patients diagnosed with AESI.We concluded one case of preeclampsia was possibly related to tetanus-diphtheria-pertussis vaccination. We propose a multi-hospital-based, retrospective assessment system for predefined AESIs as an alternative to active vaccine safety monitoring method. These efforts are expected to enhance both the accuracy and timeliness of safety monitoring in South Korea.
2.Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa
Hyo Song PARK ; Kyung KIM ; Dongwook LEE ; Jong-Young LEE ; Jeong Nam CHOI ; Jin Ha KIM ; Jung Woo HAN ; Tae Kwann PARK
Journal of Korean Medical Science 2025;40(16):e54-
Background:
Because of the low prevalence of inherited retinal diseases, reports on the distribution of retinitis pigmentosa (RP)-related genes in Korean patients are scarce. The aim of this study was to determine the mutation spectrum and allele frequency and observe the final diagnoses in a Korean cohort clinically diagnosed with RP.
Methods:
We used whole-exome sequencing (WES) to analyze a Korean cohort of 100 unrelated patients clinically diagnosed with RP. The possible pathogenicity of each variant was assessed based on the guidelines of the American College of Medical Genetics and Genomics and Association for Molecular Pathology, in-silico prediction tools, known clinical phenotypes, and inheritance patterns.
Results:
Definite causative genes were detected in 60/100 patients (60.0%). Of these 60 cases, USH2A was the most common causative gene (14/60, 23.3%), followed by EYS (13/60, 21.7%) and RP1 (6/60, 10.0%). The clinical diagnosis was redefined in 9 of the 60 probands (15.0%) with causative genes after WES. Five of the 60 patients (8.3%) carried a causative variant in CHM, and the clinical diagnosis was redefined as choroideremia. Leber congenital amaurosis was diagnosed in 2/60 probands (3.3%), and RDH12 and RPGRIP1 were the causative genes in each patient. One patient (1/60, 1.7%) was diagnosed with Bietti’s crystalline dystrophy, with CYP4V2 identified as the causative gene. In another patient (1/60, 1.7%), ABCA4 variants were detected with clinical findings suggestive of cone-rod dystrophy.
Conclusion
This study reports the mutational spectrum of a cohort of Korean patients with a clinical diagnosis of RP who were referred for genetic testing. This study adds valuable data regarding the frequency of genes as well as their relation to the age of symptom onset and relation to other inherited retinal degenerations.
3.Sentinel Safety Monitoring System for Adverse Events of Special Interest Associated With Non-NIP Vaccines in Korea
Hakjun HYUN ; Jung Yeon HEO ; Yu Jung CHOI ; Eliel NHAM ; Jin Gu YOON ; Ji Yun NOH ; Joon Young SONG ; Woo Joo KIM ; Won Suk CHOI ; Min Joo CHOI ; Yu Bin SEO ; Jacob LEE ; Hee Jin CHEONG
Journal of Korean Medical Science 2025;40(16):e152-
South Korea’s current vaccination policies leave a surveillance gap for non-National Immunization Program (NIP) vaccines. In this study, we proposed a sentinel surveillance approach for monitoring the safety of non-NIP vaccines. Vaccination data were collected retrospectively among patients hospitalized with pre-defined adverse events of special interest (AESI) by reviewing electronic medical records in five university hospitals. This approach incorporates expert assessment to determine the causal relationship. We confirmed that 16 patients had received non-NIP vaccines among 860 patients diagnosed with AESI.We concluded one case of preeclampsia was possibly related to tetanus-diphtheria-pertussis vaccination. We propose a multi-hospital-based, retrospective assessment system for predefined AESIs as an alternative to active vaccine safety monitoring method. These efforts are expected to enhance both the accuracy and timeliness of safety monitoring in South Korea.
4.Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa
Hyo Song PARK ; Kyung KIM ; Dongwook LEE ; Jong-Young LEE ; Jeong Nam CHOI ; Jin Ha KIM ; Jung Woo HAN ; Tae Kwann PARK
Journal of Korean Medical Science 2025;40(16):e54-
Background:
Because of the low prevalence of inherited retinal diseases, reports on the distribution of retinitis pigmentosa (RP)-related genes in Korean patients are scarce. The aim of this study was to determine the mutation spectrum and allele frequency and observe the final diagnoses in a Korean cohort clinically diagnosed with RP.
Methods:
We used whole-exome sequencing (WES) to analyze a Korean cohort of 100 unrelated patients clinically diagnosed with RP. The possible pathogenicity of each variant was assessed based on the guidelines of the American College of Medical Genetics and Genomics and Association for Molecular Pathology, in-silico prediction tools, known clinical phenotypes, and inheritance patterns.
Results:
Definite causative genes were detected in 60/100 patients (60.0%). Of these 60 cases, USH2A was the most common causative gene (14/60, 23.3%), followed by EYS (13/60, 21.7%) and RP1 (6/60, 10.0%). The clinical diagnosis was redefined in 9 of the 60 probands (15.0%) with causative genes after WES. Five of the 60 patients (8.3%) carried a causative variant in CHM, and the clinical diagnosis was redefined as choroideremia. Leber congenital amaurosis was diagnosed in 2/60 probands (3.3%), and RDH12 and RPGRIP1 were the causative genes in each patient. One patient (1/60, 1.7%) was diagnosed with Bietti’s crystalline dystrophy, with CYP4V2 identified as the causative gene. In another patient (1/60, 1.7%), ABCA4 variants were detected with clinical findings suggestive of cone-rod dystrophy.
Conclusion
This study reports the mutational spectrum of a cohort of Korean patients with a clinical diagnosis of RP who were referred for genetic testing. This study adds valuable data regarding the frequency of genes as well as their relation to the age of symptom onset and relation to other inherited retinal degenerations.
5.Study Protocol of Expanded Multicenter Prospective Cohort Study of Active Surveillance on Papillary Thyroid Microcarcinoma (MAeSTro-EXP)
Jae Hoon MOON ; Eun Kyung LEE ; Wonjae CHA ; Young Jun CHAI ; Sun Wook CHO ; June Young CHOI ; Sung Yong CHOI ; A Jung CHU ; Eun-Jae CHUNG ; Yul HWANGBO ; Woo-Jin JEONG ; Yuh-Seog JUNG ; Kyungsik KIM ; Min Joo KIM ; Su-jin KIM ; Woochul KIM ; Yoo Hyung KIM ; Chang Yoon LEE ; Ji Ye LEE ; Kyu Eun LEE ; Young Ki LEE ; Hunjong LIM ; Do Joon PARK ; Sue K. PARK ; Chang Hwan RYU ; Junsun RYU ; Jungirl SEOK ; Young Shin SONG ; Ka Hee YI ; Hyeong Won YU ; Eleanor WHITE ; Katerina MASTROCOSTAS ; Roderick J. CLIFTON-BLIGH ; Anthony GLOVER ; Matti L. GILD ; Ji-hoon KIM ; Young Joo PARK
Endocrinology and Metabolism 2025;40(2):236-246
Background:
Active surveillance (AS) has emerged as a viable management strategy for low-risk papillary thyroid microcarcinoma (PTMC), following pioneering trials at Kuma Hospital and the Cancer Institute Hospital in Japan. Numerous prospective cohort studies have since validated AS as a management option for low-risk PTMC, leading to its inclusion in thyroid cancer guidelines across various countries. From 2016 to 2020, the Multicenter Prospective Cohort Study of Active Surveillance on Papillary Thyroid Microcarcinoma (MAeSTro) enrolled 1,177 patients, providing comprehensive data on PTMC progression, sonographic predictors of progression, quality of life, surgical outcomes, and cost-effectiveness when comparing AS to immediate surgery. The second phase of MAeSTro (MAeSTro-EXP) expands AS to low-risk papillary thyroid carcinoma (PTC) tumors larger than 1 cm, driven by the hypothesis that overall risk assessment outweighs absolute tumor size in surgical decision-making.
Methods:
This protocol aims to address whether limiting AS to tumors smaller than 1 cm may result in unnecessary surgeries for low-risk PTCs detected during their rapid initial growth phase. By expanding the AS criteria to include tumors up to 1.5 cm, while simultaneously refining and standardizing the criteria for risk assessment and disease progression, we aim to minimize overtreatment and maintain rigorous monitoring to improve patient outcomes.
Conclusion
This study will contribute to optimizing AS guidelines and enhance our understanding of the natural course and appropriate management of low-risk PTCs. Additionally, MAeSTro-EXP involves a multinational collaboration between South Korea and Australia. This cross-country study aims to identify cultural and racial differences in the management of low-risk PTC, thereby enriching the global understanding of AS practices and their applicability across diverse populations.
6.Predicting Mortality and Cirrhosis-Related Complications with MELD3.0: A Multicenter Cohort Analysis
Jihye LIM ; Ji Hoon KIM ; Ahlim LEE ; Ji Won HAN ; Soon Kyu LEE ; Hyun YANG ; Heechul NAM ; Hae Lim LEE ; Do Seon SONG ; Sung Won LEE ; Hee Yeon KIM ; Jung Hyun KWON ; Chang Wook KIM ; U Im CHANG ; Soon Woo NAM ; Seok-Hwan KIM ; Pil Soo SUNG ; Jeong Won JANG ; Si Hyun BAE ; Jong Young CHOI ; Seung Kew YOON ; Myeong Jun SONG
Gut and Liver 2025;19(3):427-437
Background/Aims:
This study aimed to evaluate the performance of the Model for End-Stage Liver Disease (MELD) 3.0 for predicting mortality and liver-related complications compared with the Child-Pugh classification, albumin-bilirubin (ALBI) grade, the MELD, and the MELD sodium (MELDNa) score.
Methods:
We evaluated a multicenter retrospective cohort of incorporated patients with cirrhosis between 2013 and 2019. We conducted comparisons of the area under the receiver operating characteristic curve (AUROC) of the MELD3.0 and other models for predicting 3-month mortality. Additionally, we assessed the risk of cirrhosis-related complications according to the MELD3.0 score.
Results:
A total of 3,314 patients were included. The mean age was 55.9±11.3 years, and 70.2% of the patients were male. Within the initial 3 months, 220 patients (6.6%) died, and the MELD3.0had the best predictive performance among the tested models, with an AUROC of 0.851, outperforming the Child-Pugh classification, ALBI grade, MELD, and MELDNa. A high MELD3.0score was associated with an increased risk of mortality. Compared with that of the group with a MELD3.0 score <10 points, the adjusted hazard ratio of the group with a score of 10–20 pointswas 2.176, and that for the group with a score of ≥20 points was 4.892. Each 1-point increase inthe MELD3.0 score increased the risk of cirrhosis-related complications by 1.033-fold. The risk of hepatorenal syndrome showed the highest increase, with an adjusted hazard ratio of 1.149, followed by hepatic encephalopathy and ascites.
Conclusions
The MELD3.0 demonstrated robust prognostic performance in predicting mortality in patients with cirrhosis. Moreover, the MELD3.0 score was linked to cirrhosis-related complications, particularly those involving kidney function, such as hepatorenal syndrome and ascites.
7.Expert consensus on oral corticosteroid use and tapering in severe asthma management
Joo-Hee KIM ; Noeul KANG ; Sung-Yoon KANG ; Da Woon SIM ; So-Young PARK ; Jong-Sook PARK ; Hyun LEE ; Hyun Jung JIN ; Woo-Jung SONG ; So Ri KIM ; Sang-Heon KIM
Allergy, Asthma & Respiratory Disease 2025;13(1):12-21
Systemic corticosteroids play an essential role in the management of asthma. During acute exacerbation, the short-term use of systemic corticosteroids is recommended. For patients with uncontrolled asthma and severe asthma, long-term and low-dose oral corticosteroids (OCS) have frequently been advocated. However, both short-term and long-term use of systemic corticosteroids carry the risk of adverse events (AEs), including various morbidities and even mortality. Despite recent progress in adult severe asthma management and the availability of new treatment options, the current domestic guidelines for asthma do not provide specific recommendations for oral corticosteroid tapering in patients with severe asthma. Therefore, the task force team of the severe asthma working group in the Korean Academy of Allergy, Asthma, and Clinical Immunology has proposed a tapering protocol for systemic corticosteroid use in severe asthma. This includes practical recommendations for monitoring OCS-related AE, particularly for adrenal insufficiency and osteoporosis, which suggests corticosteroid-sparing strategies that include alternative therapies, modifying treatable traits, timely specialist assessment, and shared decision-making with patients. However, further real-world research and collaboration with doctors from primary and academic institutes, patients, and policymakers are necessary to establish an OCS stewardship approach. This should include realistic OCS-tapering strategies for patients with severe asthma using regular OCS, education, and campaigns for patients, the public, and healthcare providers about the burden of severe asthma, as well as improving timely access to specialized severe asthma services for optimal management.
8.Age of asthma onset and its relevance to adult asthma in the general population
Ha-Kyeong WON ; Yewon KANG ; Jin AN ; Ji-Hyang LEE ; Min-Gyu KANG ; Tae-Bum KIM ; Woo-Jung SONG
Allergy, Asthma & Respiratory Disease 2025;13(1):22-29
Purpose:
The classification of asthma phenotypes frequently depends on the age of onset. However, the rationale for specific age cutoffs remains unclear. This study aimed to explore the distribution of asthma onset age, to define subgroups based on onset age, and to examine their characteristics within a broad Korean population.
Methods:
An analysis of cross-sectional data involving 56,632 participants from the Korean National Health and Nutrition Examination Survey (2010–2016) was conducted. Data on asthma history, including diagnosis, self-reported age of asthma onset, and current disease status, were collected using structured questionnaires.
Results:
The distribution of asthma onset age showed a distinct peak in early childhood, with a decline between the ages 15 and 20.Based on this distribution, asthma was categorized into childhood-onset ( ≤ 18 years) and adult-onset ( > 18 years) for further analysis.Multivariate analyses indicated that adult-onset asthma was associated with older age, female sex, obesity, and a history of smoking, whereas childhood-onset asthma was linked to younger age, male sex, allergic rhinitis, and atopic dermatitis. Among the adultonset group, current asthma had a later onset age, increased history of smoking history, and atopic dermatitis compared to past asthma.
Conclusion
This analysis of nationwide general population data suggests that an age threshold around 18 years may be relevant for defining adult-onset asthma.
9.Expert consensus on oral corticosteroid use and tapering in severe asthma management
Joo-Hee KIM ; Noeul KANG ; Sung-Yoon KANG ; Da Woon SIM ; So-Young PARK ; Jong-Sook PARK ; Hyun LEE ; Hyun Jung JIN ; Woo-Jung SONG ; So Ri KIM ; Sang-Heon KIM
Allergy, Asthma & Respiratory Disease 2025;13(1):12-21
Systemic corticosteroids play an essential role in the management of asthma. During acute exacerbation, the short-term use of systemic corticosteroids is recommended. For patients with uncontrolled asthma and severe asthma, long-term and low-dose oral corticosteroids (OCS) have frequently been advocated. However, both short-term and long-term use of systemic corticosteroids carry the risk of adverse events (AEs), including various morbidities and even mortality. Despite recent progress in adult severe asthma management and the availability of new treatment options, the current domestic guidelines for asthma do not provide specific recommendations for oral corticosteroid tapering in patients with severe asthma. Therefore, the task force team of the severe asthma working group in the Korean Academy of Allergy, Asthma, and Clinical Immunology has proposed a tapering protocol for systemic corticosteroid use in severe asthma. This includes practical recommendations for monitoring OCS-related AE, particularly for adrenal insufficiency and osteoporosis, which suggests corticosteroid-sparing strategies that include alternative therapies, modifying treatable traits, timely specialist assessment, and shared decision-making with patients. However, further real-world research and collaboration with doctors from primary and academic institutes, patients, and policymakers are necessary to establish an OCS stewardship approach. This should include realistic OCS-tapering strategies for patients with severe asthma using regular OCS, education, and campaigns for patients, the public, and healthcare providers about the burden of severe asthma, as well as improving timely access to specialized severe asthma services for optimal management.
10.Age of asthma onset and its relevance to adult asthma in the general population
Ha-Kyeong WON ; Yewon KANG ; Jin AN ; Ji-Hyang LEE ; Min-Gyu KANG ; Tae-Bum KIM ; Woo-Jung SONG
Allergy, Asthma & Respiratory Disease 2025;13(1):22-29
Purpose:
The classification of asthma phenotypes frequently depends on the age of onset. However, the rationale for specific age cutoffs remains unclear. This study aimed to explore the distribution of asthma onset age, to define subgroups based on onset age, and to examine their characteristics within a broad Korean population.
Methods:
An analysis of cross-sectional data involving 56,632 participants from the Korean National Health and Nutrition Examination Survey (2010–2016) was conducted. Data on asthma history, including diagnosis, self-reported age of asthma onset, and current disease status, were collected using structured questionnaires.
Results:
The distribution of asthma onset age showed a distinct peak in early childhood, with a decline between the ages 15 and 20.Based on this distribution, asthma was categorized into childhood-onset ( ≤ 18 years) and adult-onset ( > 18 years) for further analysis.Multivariate analyses indicated that adult-onset asthma was associated with older age, female sex, obesity, and a history of smoking, whereas childhood-onset asthma was linked to younger age, male sex, allergic rhinitis, and atopic dermatitis. Among the adultonset group, current asthma had a later onset age, increased history of smoking history, and atopic dermatitis compared to past asthma.
Conclusion
This analysis of nationwide general population data suggests that an age threshold around 18 years may be relevant for defining adult-onset asthma.

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