1.Genetic Characteristics of 63 Patients with Non-syndromic Retinitis Pigmentosa at a Single Korean Institution
Sa Ra KIM ; Jae Hui KIM ; Won Tae YOON ; Young Ju LEW
Journal of the Korean Ophthalmological Society 2025;66(1):36-44
Purpose:
To investigate the genetic characteristics of patients with non-syndromic retinitis pigmentosa (RP) analyzed at a single institution.
Methods:
We conducted a retrospective analysis of 63 patients clinically diagnosed with non-syndromic RP who underwent genetic testing. The clinical features of patients exhibiting the most common mutations, EYS and USH2A, were further assessed through routine ophthalmic examinations.
Results:
Of the 63 patients, 22 (34.9%) exhibited significant mutations. Notably, EYS and USH2A mutations were each found in 5 patients (7.9%); RP1 mutations were found in 4 patients (6.3%). The average ages at diagnosis were 38.8 years for EYS mutations and 41.8 years for USH2A mutations. The average best-corrected visual acuities were logMAR 0.08 for EYS mutations and logMAR 0.51 for USH2A mutations. Both mutation types showed a decrease in the normal macular area in fundus photographs with increasing age. In USH2A mutations, optical coherence tomography revealed a more pronounced reduction in central macular thickness and central foveal ellipsoid length compared with EYS mutations. Visual field tests indicated a reduction within the central 10° in 40% of EYS mutations and 60% of USH2A mutations. Electroretinography showed non-detectable responses in 2 individuals with EYS mutations and 4 individuals with USH2A mutations (40% and 80%, respectively).
Conclusions
EYS and USH2A mutations represented 45% of the genetically identified cases; affected patients typically were diagnosed in their 40s. EYS mutations tended to preserve retinal function and central foveal structure better than USH2A mutations.
2.Analysis of emergency department related lawsuits and its response
Ilchae JEONG ; Minhoo SEO ; Sang Ook HA ; Won Seok YANG ; Young Sun PARK ; Kangeui LEE ; Taejin PARK
Journal of the Korean Society of Emergency Medicine 2025;36(2):83-91
Objective:
This study examined the up-to-date facts from real cases of emergency medical litigations to provide information to act appropriately in medical lawsuits against emergency medicine specialists.
Methods:
Data were collected from lawsuits from 2008 to 2020. Thirty-nine cases were collected and analyzed retrospectively. Six emergency medicine specialists and one resident with a lawyer’s license participated in the analysis.
Results:
Medical litigations have surged since 2015. The lawsuits were due mainly to misdiagnoses and violations of the duty to explain. Medical staff won in 12 (38.7%) cases and lost in 19 (61.3%). The main reason for losing was a violation of the duty of care. In criminal claims, 50% of cases resulted in confinement. The win rate was 1.4 times higher in cases where consultation was requested from other specialties (42.9% and 29.4% win with consultation and without, respectively).
Conclusion
The win rate in lawsuits is decreasing, and the level of penalty is becoming more severe. The decrease in the violation of duty to explain was attributed to education through the years. The win rate was higher when consulting with other specialists. Hence, active consultation is recommended. In addition, the system of radiology interpretation requires improvement because of the many misdiagnoses from reading diagnostic images.
3.Splenic Sclerosing Angiomatoid Nodular Transformation in an 8-Year-Old Child
Ji Yeong KIM ; Hee Jung LEE ; Eun Young JUNG ; Hye Won LEE ; Ye Jee SHIM
Journal of the Korean Society of Radiology 2025;86(1):191-198
Sclerosing angiomatoid nodular transformation (SANT) of the spleen is extremely rare in pediatric patients. Here, we report the case of an 8-year-old boy with iron-deficiency anemia and a solitary splenic mass detected using US, CT, and MRI. The patient underwent partial splenectomy, and the final diagnosis was SANT. Herein, we discuss the radiological features of splenic SANT through a review of reported cases and the differential diagnosis of other primary splenic tumors.
4.Whole genome sequencing analysis of enteropathogenic Escherichia coli from human and companion animals in Korea
Jae Young OH ; Kyung-Hyo DO ; Jae Hong JEONG ; SuMin KWAK ; Sujin CHOE ; Dongheui AN ; Jong-Chan CHAE ; Kwangjun LEE ; Kwang-Won SEO
Journal of Veterinary Science 2025;26(1):e1-
Objective:
To improve our understanding of EPEC, this study focused on analyzing and comparing the genomic characteristics of EPEC isolates from humans and companion animals in Korea.
Methods:
The whole genome of 26 EPEC isolates from patients with diarrhea and 20 EPEC isolates from companion animals in Korea were sequenced using the Illumina HiSeq X (Illumina, USA) and Oxford Nanopore MinION (Oxford Nanopore Technologies, UK) platforms.
Results:
Most isolates were atypical EPEC, and did not harbor the bfpA gene. The most prevalent virulence genes were found to be ompT (humans: 61.5%; companion animals:60.0%) followed by lpfA (humans: 46.2%; companion animals: 60.0%). Although pangenome analyses showed no apparent correlation among the origin of the strains, virulence profiles, and antimicrobial resistance profiles, isolates included in clade A obtained from both humans and companion animals exhibited high similarity. Additionally, all the isolates included in clade A encoded the ompT gene and did not encode the hlyE gene. The two isolates from companion animals harbored an incomplete bundle-forming pilus region encoding bfpA and bfpB. Moreover, the type IV secretion system-associated genes tra and trb were found in the bfpA-encoding isolates from humans.
Conclusions
and Relevance: Whole-genome sequencing enabled a more accurate analysis of the phylogenetic structure of EPEC and provided better insights into the understanding of EPEC epidemiology and pathogenicity.
5.The Effects of Nicotine on Re-endothelialization, Inflammation, and Neoatherosclerosis After Drug-Eluting Stent Implantation in a Porcine Model
Seok OH ; Ju Han KIM ; Saleem AHMAD ; Yu Jeong JIN ; Mi Hyang NA ; Munki KIM ; Jeong Ha KIM ; Dae Sung PARK ; Dae Young HYUN ; Kyung Hoon CHO ; Min Chul KIM ; Doo Sun SIM ; Young Joon HONG ; Seung-won LEE ; Youngkeun AHN ; Myung Ho JEONG
Korean Circulation Journal 2025;55(1):50-64
Background and Objectives:
Cigarette smoking is a major risk factor for atherosclerosis.Nicotine, a crucial constituent of tobacco, contributes to atherosclerosis development and progression. However, evidence of the association between nicotine and neointima formation is limited. We aimed to evaluate whether nicotine enhances neointimal hyperplasia in the native epicardial coronary arteries of pigs after percutaneous coronary intervention (PCI) with drug-eluting stents (DES).
Methods:
After coronary angiography (CAG) and quantitative coronary angiography (QCA), we implanted 20 DES into 20 pigs allocated to 2 groups: no-nicotine (n=10) and nicotine (n=10) groups. Post-PCI CAG and QCA were performed immediately. Follow-up CAG, QCA, optical coherence tomography (OCT), and histopathological analyses were performed 2 months post-PCI.
Results:
Despite intergroup similarities in the baseline QCA findings, OCT analysis showed that the nicotine group had a smaller mean stent and lumen areas, a larger mean neointimal area, greater percent area stenosis, and higher peri-strut fibrin and inflammation scores than the no-nicotine group. In immunofluorescence analysis, the nicotine group displayed higher expression of CD68 and α-smooth muscle actin but lower CD31 expression than the no-nicotine group.
Conclusions
Nicotine inhibited re-endothelialization and promoted inflammation and NIH after PCI with DES in a porcine model.
6.Outcomes of Deferring Percutaneous Coronary Intervention Without Physiologic Assessment for Intermediate Coronary Lesions
Jihoon KIM ; Seong-Hoon LIM ; Joo-Yong HAHN ; Jin-Ok JEONG ; Yong Hwan PARK ; Woo Jung CHUN ; Ju Hyeon OH ; Dae Kyoung CHO ; Yu Jeong CHOI ; Eul-Soon IM ; Kyung-Heon WON ; Sung Yun LEE ; Sang-Wook KIM ; Ki Hong CHOI ; Joo Myung LEE ; Taek Kyu PARK ; Jeong Hoon YANG ; Young Bin SONG ; Seung-Hyuk CHOI ; Hyeon-Cheol GWON
Korean Circulation Journal 2025;55(3):185-195
Background and Objectives:
Outcomes of deferring percutaneous coronary intervention (PCI) without invasive physiologic assessment for intermediate coronary lesions is uncertain.We sought to compare long-term outcomes between medical treatment and PCI of intermediate lesions without invasive physiologic assessment.
Methods:
A total of 899 patients with intermediate coronary lesions between 50% and 70% diameter-stenosis were randomized to the conservative group (n=449) or the aggressive group (n=450). For intermediate lesions, PCI was performed in the aggressive group, but was deferred in the conservative group. The primary endpoint was major adverse cardiac events (MACE, a composite of all-cause death, myocardial infarction [MI], or ischemia-driven any revascularization) at 3 years.
Results:
The number of treated lesions per patient was 0.8±0.9 in the conservative group and 1.7±0.9 in the aggressive group (p=0.001). At 3 years, the conservative group had a significantly higher incidence of MACE than the aggressive group (13.8% vs. 9.3%; hazard ratio [HR], 1.49; 95% confidence interval [CI], 1.00–2.21; p=0.049), mainly driven by revascularization of target intermediate lesion (6.5% vs. 1.1%; HR, 5.69; 95% CI, 2.20–14.73;p<0.001). Between 1 and 3 years after the index procedure, compared to the aggressive group, the conservative group had significantly higher incidence of cardiac death or MI (3.2% vs.0.7%; HR, 4.34; 95% CI, 1.24–15.22; p=0.022) and ischemia-driven any revascularization.
Conclusions
For intermediate lesions, medical therapy alone, guided only by angiography, was associated with a higher risk of MACE at 3 years compared with performing PCI, mainly due to increased revascularization.
7.A Preliminary Study on the Effects of Transcutaneous Auricular Vagus Nerve Stimulation on Smoking Cessation and Related Psychological Factors
Hyunung LEE ; Seunghyun RYU ; Won-Pyo KIM ; Hyeonju RYU ; Eun Young KIM
Journal of the Korean Society of Biological Psychiatry 2025;32(1):9-16
Objectives:
Smoking causes 8 million deaths annually and significant socioeconomic burdens. Despite several therapies, cessation rates remain low due to nicotine’s addictive properties and withdrawal symptoms. This study evaluates the efficacy of transcutaneous auricular vagus nerve stimulation (taVNS) in reducing nicotine dependence and improving psychological states.
Methods:
This pilot study enrolled 23 adult smokers aged 19 to 65 years with the Fagerström Test for Nicotine Dependence (FTND) scores over 4 and daily cigarette consumption exceeding 10. Participants were randomized into treatment and control groups. The treatment group received personalized taVNS stimulation targeting the auricular branch of the vagus nerve, applied for 30 minutes, three times daily, for four weeks. The control group received a low-level fixed-current stimulation. Outcomes, including the FTND, cigarettes per day (CPD), the Patient Health Questionnaire-9 (PHQ-9), the Generalized Anxiety Disorder-7 (GAD-7), and the Insomnia Severity Index (ISI), were assessed at baseline, 2 weeks, and 4 weeks. Statistical analyses included the Mann–Whitney U-test and Wilcoxon signed-rank test.
Results:
The treatment group showed significant reductions in the FTND (2.0 points at 2 weeks, p<0.05; 3.0 points at 4 weeks, p<0.05) and CPD (1.0 fewer cigarette at 2 weeks, p<0.05; 2.0 fewer cigarettes at 4 weeks, p<0.05). Additionally, the PHQ-9 scores decreased significantly in the treatment group (3.0 points at 2 weeks, p<0.05; no further improvement at 4 weeks). However, the GAD-7 and the ISI scores showed no statistically significant changes in either group. The control group exhibited slight improvements in the FTND and the CPD, possibly due to placebo effects or motivation induced by study participation.
Conclusions
This study highlights taVNS as a promising non-invasive treatment for smoking cessation, effective in reducing nicotine dependence and improving depressive symptoms. However, its effects on anxiety and sleep quality remain unclear. Larger studies are needed to confirm its efficacy and explore optimal parameters and underlying mechanisms.
8.Unhealthy alcohol use: screening and behavioral counseling interventions
Wonyoung JUNG ; Seung-Won OH ; Se-Hong KIM ; Soo Young KIM
Korean Journal of Family Medicine 2025;46(1):20-26
Background:
Despite the increase in daily alcohol intake in recent decades and the implementation of national health screenings, effective management strategies for alcohol consumption remain outdated. This review evaluates intervention studies on screening and behavioral counseling for unhealthy alcohol use, with the aim of enhancing the effectiveness of interventions and improving health outcomes.
Methods:
On the basis of the GRADE (Grading of Recommendations Assessment, Development, and Evaluation)- ADOLOPMENT framework, systematic reviews and randomized controlled trials were examined to investigate the effectiveness of screening and counseling interventions in reducing unhealthy alcohol use. Five key questions were generated, and an evaluation and quality assessment of existing systematic reviews and new evidence related to each key question were conducted.
Results:
Updating the U.S. Preventive Services Task Force and Cochrane 2018 reviews, we identified five new randomized trials that evaluated screening and counseling interventions for unhealthy alcohol use. For Key Question 2, the sensitivity and specificity of the new screening studies were consistent with those of prior research. Brief interventions were confirmed to reduce alcohol use (Key Question 4a), although additional research is required for a wider array of health outcomes. One study highlighted the benefits of counseling interventions for newborn health indicators in pregnant women (Key Question 4b). No new evidence was found regarding the harms of screening (Key Question 3) or alcohol use reduction interventions (Key Question 5).
Conclusion
This review supports the continued use of brief interventions to reduce alcohol consumption in highrisk groups and highlights the need for culturally tailored research in Korea.
9.Latest Insights into Long COVID Diagnosis and Treatment
Jun-Won SEO ; Seong Eun KIM ; Yoonjung KIM ; Eun Jung KIM ; Tark KIM ; Tae Hwa KIM ; So Hee LEE ; Eunjung LEE ; Jacob LEE ; Yu Bin SEO ; Young-Hoon JEONG ; Young Hee JUNG ; Yu Jung CHOI ; Joon Young SONG
Korean Journal of Medicine 2025;100(2):45-53
Long coronavirus disease (COVID) is a condition in which coronavirus disease 2019 (COVID-19) symptoms persist for over 3 months, and currently poses a global public health challenge. Due to varying manifestations and lack of standardized definitions, diagnostic methods, and treatments, comprehensive clinical guidelines are required. This review article, summarizing research and expert consensus up to June 2023, provides recommendations for diagnosis and long-term management of long COVID symptoms. It emphasizes thorough patient evaluation, including medical history, physical examinations, and tests, and advocates vaccination and antiviral treatments to reduce risk. Guidelines for long COVID will be updated as new knowledge emerges.
10.Difference of Parental Level of Concerns on Surgery according to the Perspectives and Characteristic among Pediatrics with Intermittent Exotropia
Seongyong JEONG ; So Young HAN ; Sunghyuk MOON ; Donghun LEE ; Sook Young KIM ; Mirae KIM ; Jihyun PARK ; Myung Mi KIM ; Won Jae KIM
Korean Journal of Ophthalmology 2025;39(1):41-47
Purpose:
To evaluate the differences in the level of concerns regarding exotropia surgery according to the perspectives regarding surgery and basic characteristics of parents of pediatric patients with intermittent exotropia in South Korea.
Methods:
This study included the parents of pediatric patients with intermittent exotropia who underwent surgery at five hospitals, between June 2022 and February 2023. Parental perspectives, basic characteristics, and levels of concern regarding surgery were assessed using a questionnaire. We investigated the differences in concern levels according to perspectives regarding surgery and basic characteristics among parents, such as sex, age, residential area, and the most influential factors in the decision-making for surgery.
Results:
A total of 266 parents were included (228 mothers; age, 40.0±4.7 years). Parents who chose surgery for subjective symptoms had higher levels of concern about hemorrhage, conjunctival redness, and persistent overcorrection than did those who chose surgery for cosmetic reasons (all p < 0.05). Fathers were more concerned about postoperative pain, compared to mothers (p = 0.039). Parents in their 40s and 50s had higher levels of concern about the hospital environment compared with those in their 20s and 30s (p = 0.003). Concern did not significantly differ by residential area.
Conclusions
The level of concern regarding surgery differed according to the perspectives and characteristics of the parents of pediatric patients with intermittent exotropia. Parents who chose surgery for subjective symptoms of exotropia had a higher level of concern than did those who chose surgery for cosmetic reasons. The concern level differed according to the parents’ sex and age but not their residential area.

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