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.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.
3.Prospective Multicenter Observational Study on Postoperative Quality of Life According to Type of Gastrectomy for Gastric Cancer
Sung Eun OH ; Yun-Suhk SUH ; Ji Yeong AN ; Keun Won RYU ; In CHO ; Sung Geun KIM ; Ji-Ho PARK ; Hoon HUR ; Hyung-Ho KIM ; Sang-Hoon AHN ; Sun-Hwi HWANG ; Hong Man YOON ; Ki Bum PARK ; Hyoung-Il KIM ; In Gyu KWON ; Han-Kwang YANG ; Byoung-Jo SUH ; Sang-Ho JEONG ; Tae-Han KIM ; Oh Kyoung KWON ; Hye Seong AHN ; Ji Yeon PARK ; Ki Young YOON ; Myoung Won SON ; Seong-Ho KONG ; Young-Gil SON ; Geum Jong SONG ; Jong Hyuk YUN ; Jung-Min BAE ; Do Joong PARK ; Sol LEE ; Jun-Young YANG ; Kyung Won SEO ; You-Jin JANG ; So Hyun KANG ; Bang Wool EOM ; Joongyub LEE ; Hyuk-Joon LEE ;
Journal of Gastric Cancer 2025;25(2):382-399
Purpose:
This study evaluated the postoperative quality of life (QoL) after various types of gastrectomy for gastric cancer.
Materials and Methods:
A multicenter prospective observational study was conducted in Korea using the Korean Quality of Life in Stomach Cancer Patients Study (KOQUSS)-40, a new QoL assessment tool focusing on postgastrectomy syndrome. Overall, 496 patients with gastric cancer were enrolled, and QoL was assessed at 5 time points: preoperatively and at 1, 3, 6, and 12 months after surgery.
Results:
Distal gastrectomy (DG) and pylorus-preserving gastrectomy (PPG) showed significantly better outcomes than total gastrectomy (TG) and proximal gastrectomy (PG) with regard to total score, indigestion, and dysphagia. DG, PPG, and TG also showed significantly better outcomes than PG in terms of dumping syndrome and worry about cancer. Postoperative QoL did not differ significantly according to anastomosis type in DG, except for Billroth I anastomosis, which achieved better bowel habit change scores than the others. No domains differed significantly when comparing double tract reconstruction and esophagogastrostomy after PG. The total QoL score correlated significantly with postoperative body weight loss (more than 10%) and extent of resection (P<0.05 for both).Reflux as assessed by KOQUSS-40 did not correlate significantly with reflux observed on gastroscopy 1 year postoperatively (P=0.064).
Conclusions
Our prospective observation using KOQUSS-40 revealed that DG and PPG lead to better QoL than TG and PG. Further study is needed to compare postoperative QoL according to anastomosis type in DG and PG.
4.Integration of conventional and digital approach in full mouth rehabilitation of a patient with severe tooth wear
On-Yu CHEON ; Jeong-Woo YUN ; Su-Min KIM ; Yu-Ri HEO ; Mee-Kyoung SON
Oral Biology Research 2025;49(1):6-
This report presents the case of severe tooth wear and vertical dimension loss in a 71-year-old male patient. A combined conventional and digital approach was employed for full-mouth rehabilitation. After determining an increase in the vertical dimension of 5.5 mm using an anterior jig and diagnostic wax-up, provisional restorations were fabricated and adjusted throughout the adaptation period.For the fabrication of the final prosthesis, digital methodologies such as oral scanning and occlusal acquisition were performed. To obtain precise margin data, a die model was fabricated using the traditional impression method, followed by model scanning, which was then combined with intraoral scan data. The final prosthesis was made of zirconia to enhance esthetics and strength. Consequently, the treatment enhanced both function and esthetics, leading to high patient satisfaction with the outcomes.
5.Prospective Multicenter Observational Study on Postoperative Quality of Life According to Type of Gastrectomy for Gastric Cancer
Sung Eun OH ; Yun-Suhk SUH ; Ji Yeong AN ; Keun Won RYU ; In CHO ; Sung Geun KIM ; Ji-Ho PARK ; Hoon HUR ; Hyung-Ho KIM ; Sang-Hoon AHN ; Sun-Hwi HWANG ; Hong Man YOON ; Ki Bum PARK ; Hyoung-Il KIM ; In Gyu KWON ; Han-Kwang YANG ; Byoung-Jo SUH ; Sang-Ho JEONG ; Tae-Han KIM ; Oh Kyoung KWON ; Hye Seong AHN ; Ji Yeon PARK ; Ki Young YOON ; Myoung Won SON ; Seong-Ho KONG ; Young-Gil SON ; Geum Jong SONG ; Jong Hyuk YUN ; Jung-Min BAE ; Do Joong PARK ; Sol LEE ; Jun-Young YANG ; Kyung Won SEO ; You-Jin JANG ; So Hyun KANG ; Bang Wool EOM ; Joongyub LEE ; Hyuk-Joon LEE ;
Journal of Gastric Cancer 2025;25(2):382-399
Purpose:
This study evaluated the postoperative quality of life (QoL) after various types of gastrectomy for gastric cancer.
Materials and Methods:
A multicenter prospective observational study was conducted in Korea using the Korean Quality of Life in Stomach Cancer Patients Study (KOQUSS)-40, a new QoL assessment tool focusing on postgastrectomy syndrome. Overall, 496 patients with gastric cancer were enrolled, and QoL was assessed at 5 time points: preoperatively and at 1, 3, 6, and 12 months after surgery.
Results:
Distal gastrectomy (DG) and pylorus-preserving gastrectomy (PPG) showed significantly better outcomes than total gastrectomy (TG) and proximal gastrectomy (PG) with regard to total score, indigestion, and dysphagia. DG, PPG, and TG also showed significantly better outcomes than PG in terms of dumping syndrome and worry about cancer. Postoperative QoL did not differ significantly according to anastomosis type in DG, except for Billroth I anastomosis, which achieved better bowel habit change scores than the others. No domains differed significantly when comparing double tract reconstruction and esophagogastrostomy after PG. The total QoL score correlated significantly with postoperative body weight loss (more than 10%) and extent of resection (P<0.05 for both).Reflux as assessed by KOQUSS-40 did not correlate significantly with reflux observed on gastroscopy 1 year postoperatively (P=0.064).
Conclusions
Our prospective observation using KOQUSS-40 revealed that DG and PPG lead to better QoL than TG and PG. Further study is needed to compare postoperative QoL according to anastomosis type in DG and PG.
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.Prospective Multicenter Observational Study on Postoperative Quality of Life According to Type of Gastrectomy for Gastric Cancer
Sung Eun OH ; Yun-Suhk SUH ; Ji Yeong AN ; Keun Won RYU ; In CHO ; Sung Geun KIM ; Ji-Ho PARK ; Hoon HUR ; Hyung-Ho KIM ; Sang-Hoon AHN ; Sun-Hwi HWANG ; Hong Man YOON ; Ki Bum PARK ; Hyoung-Il KIM ; In Gyu KWON ; Han-Kwang YANG ; Byoung-Jo SUH ; Sang-Ho JEONG ; Tae-Han KIM ; Oh Kyoung KWON ; Hye Seong AHN ; Ji Yeon PARK ; Ki Young YOON ; Myoung Won SON ; Seong-Ho KONG ; Young-Gil SON ; Geum Jong SONG ; Jong Hyuk YUN ; Jung-Min BAE ; Do Joong PARK ; Sol LEE ; Jun-Young YANG ; Kyung Won SEO ; You-Jin JANG ; So Hyun KANG ; Bang Wool EOM ; Joongyub LEE ; Hyuk-Joon LEE ;
Journal of Gastric Cancer 2025;25(2):382-399
Purpose:
This study evaluated the postoperative quality of life (QoL) after various types of gastrectomy for gastric cancer.
Materials and Methods:
A multicenter prospective observational study was conducted in Korea using the Korean Quality of Life in Stomach Cancer Patients Study (KOQUSS)-40, a new QoL assessment tool focusing on postgastrectomy syndrome. Overall, 496 patients with gastric cancer were enrolled, and QoL was assessed at 5 time points: preoperatively and at 1, 3, 6, and 12 months after surgery.
Results:
Distal gastrectomy (DG) and pylorus-preserving gastrectomy (PPG) showed significantly better outcomes than total gastrectomy (TG) and proximal gastrectomy (PG) with regard to total score, indigestion, and dysphagia. DG, PPG, and TG also showed significantly better outcomes than PG in terms of dumping syndrome and worry about cancer. Postoperative QoL did not differ significantly according to anastomosis type in DG, except for Billroth I anastomosis, which achieved better bowel habit change scores than the others. No domains differed significantly when comparing double tract reconstruction and esophagogastrostomy after PG. The total QoL score correlated significantly with postoperative body weight loss (more than 10%) and extent of resection (P<0.05 for both).Reflux as assessed by KOQUSS-40 did not correlate significantly with reflux observed on gastroscopy 1 year postoperatively (P=0.064).
Conclusions
Our prospective observation using KOQUSS-40 revealed that DG and PPG lead to better QoL than TG and PG. Further study is needed to compare postoperative QoL according to anastomosis type in DG and PG.
8.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.
9.Health effects of weekend work on Korean workers: based on the 6th Korean Working Conditions Survey
Ji-Hyeon LEE ; Jin-Young MIN ; Seok-Yoon SON ; Seung-Woo RYOO ; Kyoung-Bok MIN
Annals of Occupational and Environmental Medicine 2025;37(1):e31-
Background:
Although weekend work makes up a significant part of work patterns in modern society, research on the health effects of weekend work is relatively limited compared to other types of nonstandard work. This study was conducted to examine the impact of weekend work on the health of Korean workers, aiming to provide evidence to support the development of welfare policies that promote workers’ health.
Methods:
This study was conducted using data from the 6th Korean Working Conditions Survey, targeting 35,957 Korean workers who met the research criteria. Based on the survey responses, information was collected on weekend work status and health outcomes, including general health, musculoskeletal pain, headaches or eye pain, fatigue, sleep disorders, depression, anxiety, absenteeism and presenteeism. To examine the association between weekend work and health outcome variables, logistic regression analysis was performed adjusting for sociodemographic and occupational characteristics, with additional stratified analyses conducted according to employment status.
Results:
Among the final study population, 11,255 workers, accounting for 30.5% of the total, were weekend workers. After adjusting for sociodemographic and occupational characteristics, weekend work was found to be significantly associated with depression (odds ratio [OR]: 1.08; 95% confidence interval [CI]: 1.00–1.18), anxiety (OR: 1.35; 95% CI: 1.16–1.58), musculoskeletal pain (OR: 1.45; 95% CI: 1.34–1.58), fatigue (OR: 1.49; 95% CI: 1.36–1.62), absenteeism (OR: 1.70; 95% CI: 1.43–2.03), and presenteeism (OR: 1.82; 95% CI: 1.62–2.04). The health effects of weekend work differed between the self-employed and employees, as shown in the results of the stratified analysis.
Conclusions
Weekend work was found to increase the risk of both physical and mental health problems of Korean workers, and the effect varied according to employment status. There is a need to design a comprehensive occupational health policy that reflects the characteristics of different employment statuses.
10.Association between multiple jobs and physical and psychological symptoms among the Korean working population
Seok-Yoon SON ; Jin-Young MIN ; Seung-Woo RYOO ; Baek-Yong CHOI ; Kyoung-Bok MIN
Annals of Occupational and Environmental Medicine 2024;36(1):e21-
The prevalence of multiple job-holding (MJH) is expected to show an upward trend among Korean workers, yet its potential impact on workers’ health remains poorly discussed. This study aimed to explore the association between MJH and experience of physical and psychological symptoms in various aspects among active Korean workers and to identify its differences depending on workers’ gender. We conducted a population-based cross-sectional study among South Korean workers aged 15–59 using data from the 6th Korean Working Conditions Survey. The final study sample comprised 34,175 participants. MJH status and symptoms, such as musculoskeletal pain, headache or eyestrain, fatigue, insomnia, and anxiety, were measured by self-reported data. Logistic regression analyses were performed on the total sample and gender-stratified groups, with adjustments for the sociodemographic and occupational characteristics of the participants. One hundred thirty-five men and 103 women were defined as multiple job-holders (MJHers) among the study sample. When adjusted for sociodemographic and occupational characteristics, MJHers suffered more events of headache or eyestrain (odds ratio [OR]: 1.85, 95% confidence interval [CI]: 1.23–2.78) and anxiety (OR: 1.99, 95% CI: 1.05–3.79). Gender-stratified analyses with adjustment showed that among women workers, MJH was associated with musculoskeletal pain (OR: 1.85, 95% CI: 1.02–3.34), headache or eyestrain (OR: 2.53, 95% CI: 1.37–4.67), fatigue (OR: 2.38, 95% CI: 1.29–4.40), insomnia (OR: 1.92, 95% CI: 1.04–3.57), and anxiety (OR: 2.83, 95% CI: 1.11–7.20). We found a significant association between MJH and various symptoms. Women MJHers were revealed to be a more vulnerable population than their men counterparts. Further research should account for the social context of MJH, and appropriate monitoring and intervention for maintaining the well-being of MJHers are needed.

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