1.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.
2.Real-World Utilization Patterns of Oral Corticosteroids During Pregnancy:A Nationwide Population-Based Study in Korea
Jeongin OH ; Yongtai CHO ; Jung Yeol HAN ; Ahhyung CHOI ; Ju-Young SHIN
Journal of Korean Medical Science 2025;40(2):e80-
Oral corticosteroids (OCS) are frequently used during pregnancy, but patterns of their usage and indications are understudied. We described OCS utilization among pregnant women in South Korea using the Health Insurance Review and Assessment database, 2010–2021. Among 4,574,294 pregnancies, 6.2% (n = 283,001) were exposed to OCS, with the annual prevalence increasing from 4.98% in 2010 to 6.65% in 2021. Methylprednisolone and prednisolone accounted for 90% of OCS use during pregnancy, and the median duration of prescriptions was four days. Respiratory and skin diseases were the most common indications, and prescriptions for pregnancy-associated conditions increased notably after 2017, coinciding with insurance coverage for infertility treatments. OCS prescriptions declined during the first trimester and increased near delivery, suggesting discontinuation upon pregnancy recognition. Our findings highlight the common and increasing use of OCS during pregnancy, mainly for acute conditions, underscoring the need for further research on their safety in pregnant populations.
3.Emerging Innovations in Acne Management: A Focus on NonPharmacological Therapeutic Devices
Ji Yeon HONG ; Joon SEOK ; Hye Sung HAN ; Kui Young PARK
Journal of Korean Medical Science 2025;40(9):e118-
Acne is a chronic inflammatory condition affecting the sebaceous glands, with approximately 80% of individuals experiencing it at some point in their lives. Among adolescents, the incidence is reported to exceed 85%. The disease can significantly impact both physical and emotional aspects of a person’s quality of life, leading to permanent scarring, poor self-image, depression, and anxiety. The standard first-line treatment for acne vulgaris includes conventional pharmacological approaches such as keratolytics, topical or oral antibiotics, retinoids, and hormonal agents. However, these treatments are not universally effective due to patient noncompliance, adverse drug effects, and the emergence of antibiotic resistance in Cutibacterium acnes, often resulting in high rates of recurrence. Consequently, non-pharmacological therapies have been developed as safe and effective alternatives or supplements to pharmacological treatment. These non-pharmacological approaches can serve as standalone treatment modalities, adjuncts to pharmacological therapy, or maintenance treatments. Current literature lacks comprehensive data on the classification of these non-pharmacological treatment options. This paper aims to provide a brief overview of recent research on the practical applications and potential mechanisms of nonpharmacological therapies for both acne and acne scars. Through elucidating the distinct mechanisms and therapeutic roles of these treatments, we aim to assist dermatologists and other healthcare providers in formulating more effective disease management strategies, thereby encouraging further research in this area.
4.Epidemiology and Functional Outcome of Acute Stroke Patients in Korea Using Nationwide data
Seungmin SHIN ; Young Woo KIM ; Seung Hun SHEEN ; Sukh Que PARK ; Sung-Chul JIN ; Jin Pyeong JEON ; Ji Young LEE ; Boung Chul LEE ; Young Wha LIM ; Gui Ok KIM ; Youg Uk KWON ; Yu Ra LEE ; So Young HAN ; Jae Sang OH
Journal of Korean Neurosurgical Society 2025;68(2):159-176
Objective:
: Korea’s healthcare system and policy promotes early, actively stroke treatment to improve prognosis. This study represents stroke epidemiology and outcomes in Korea.
Methods:
: This study investigated data from the Acute Stroke Assessment Registry. The registry collects data from over 220 hospitals nationwide, focusing on quality stroke service management. Data analysis included patient demographics, stroke severity assessment, and discharge prognosis measurement using standardized scales.
Results:
: Eighty-six thousand five hundred sixty-eight acute stroke patients were collected with demographic and clinical characteristics during 18 months from 2016, 2018, and between 2020 to 2021, focusing on acute subarachnoid hemorrhage (SAH), acute intracerebral hemorrhage (ICH), and acute ischemic stroke. Of these 86568 patients, 8.3% was SAH, 16.3% ICH, and 74.9% ischemic stroke. Trends showed decreasing SAH and increasing ICH cases over the years. 68.3% stroke patients had the clear onset time. 49.6% stroke patients arrived within 4.5 hours of symptom onset, with more patients treated at general hospitals. Good functional outcomes at discharge was obtained with 58.3% of acute stroke patients, 55.9% of SAH patients, 34.6% of ICH patients, and 63.8% of ischemic stroke patients.
Conclusion
: The results showed that ischemic stroke was the most common subtype, followed by ICH and SAH. Prognosis differed among subtypes, with favorable outcomes more common in ischemic stroke and SAH compared to ICH.
5.Hepatocellular carcinoma in Korea: an analysis of the 2016-2018 Korean Nationwide Cancer Registry
Jihyun AN ; Young CHANG ; Gwang Hyeon CHOI ; Won SOHN ; Jeong Eun SONG ; Hyunjae SHIN ; Jae Hyun YOON ; Jun Sik YOON ; Hye Young JANG ; Eun Ju CHO ; Ji Won HAN ; Suk Kyun HONG ; Ju-Yeon CHO ; Kyu-Won JUNG ; Eun Hye PARK ; Eunyang KIM ; Bo Hyun KIM
Journal of Liver Cancer 2025;25(1):109-122
Background:
s/Aims: Hepatocellular carcinoma (HCC) is the sixth most common cancer and second leading cause of cancer-related deaths in South Korea. This study evaluated the characteristics of Korean patients newly diagnosed with HCC in 2016-2018.
Methods:
Data from the Korean Primary Liver Cancer Registry (KPLCR), a representative database of patients newly diagnosed with HCC in South Korea, were analyzed. This study investigated 4,462 patients with HCC registered in the KPLCR in 2016-2018.
Results:
The median patient age was 63 years (interquartile range, 55-72). 79.7% of patients were male. Hepatitis B infection was the most common underlying liver disease (54.5%). The Barcelona Clinic Liver Cancer (BCLC) staging system classified patients as follows: stage 0 (14.9%), A (28.8%), B (7.5%), C (39.0%), and D (9.8%). The median overall survival was 3.72 years (95% confidence interval, 3.47-4.14), with 1-, 3-, and 5-year overall survival rates of 71.3%, 54.1%, and 44.3%, respectively. In 2016-2018, there was a significant shift toward BCLC stage 0-A and Child-Turcotte-Pugh liver function class A (P<0.05), although survival rates did not differ by diagnosis year. In the treatment group (n=4,389), the most common initial treatments were transarterial therapy (31.7%), surgical resection (24.9%), best supportive care (18.9%), and local ablation therapy (10.5%).
Conclusions
Between 2016 and 2018, HCC tended to be diagnosed at earlier stages, with better liver function in later years. However, since approximately half of the patients remained diagnosed at an advanced stage, more rigorous and optimized HCC screening strategies should be implemented.
6.Efficacy and Safety of Taltirelin Hydrate in Patients With Ataxia Due to Spinocerebellar Degeneration
Jin Whan CHO ; Jee-Young LEE ; Han-Joon KIM ; Joong-Seok KIM ; Kun-Woo PARK ; Seong-Min CHOI ; Chul Hyoung LYOO ; Seong-Beom KOH
Journal of Movement Disorders 2025;18(1):35-44
Objective:
We conducted this study to assess the efficacy and safety of taltirelin hydrate (TH) in patients with ataxia due to spinocerebellar degeneration (SCD).
Methods:
Patients were randomly assigned to either the taltirelin group (5 mg orally, twice daily) or the control group. The primary endpoint was the change in the Korean version of the Scale for the Assessment and Rating of Ataxia (K-SARA) score at 24 weeks. The secondary endpoints included changes in the K-SARA score at 4 and 12 weeks as well as the Clinical Global Impression Scale, the five-level version of the EuroQol five-dimensional questionnaire, the Tinetti balance test, and gait analysis at 4, 12, and 24 weeks.
Results:
A total of 149 patients (hereditary:nonhereditary=86:63) were enrolled. There were significant differences in the change in the K-SARA score at 24 weeks from baseline between the taltirelin group and the control group (-0.51±2.79 versus 0.36±2.62, respectively; p=0.0321). For the K-SARA items, the taltirelin group had significantly lower “Stance” and “Speech disturbance” subscores than the control group (-0.04±0.89 versus 0.23±0.79 and -0.07±0.74 versus 0.18±0.67; p=0.0270 and 0.0130, respectively). However, there were no significant differences in changes in other secondary efficacy outcome measures at 24 weeks from baseline between the two treatment arms (p>0.05).
Conclusion
Clinicians might consider the use of TH in the treatment of patients with ataxia due to SCD.
7.Analysis on the nutritional intake status by smoking, drinking, and obesity in adult over 19: insights from the 2019 Korean National Health and Nutrition Examination Survey
Journal of Nutrition and Health 2025;58(1):41-58
Purpose:
The nutrient intake status of the groups classified by smoking amount, drinking frequency, and obesity were compared using data from the Eighth (2019) Korea National Health and Nutrition Examination Survey to examine the relationship of nutrient intake status with heath behavior in adults.
Methods:
This study analyzed the nutritional intakes of 4,379 people over 19-years old and compared nutrient intake amount (NIA) and density (ND), and ratios of nutrient intake (%DRI) and subjects intaking less (< DRI) compared to the daily dietary reference of the groups divided by health behaviors including smoking amount, drinking frequency, and obesity status.
Results:
NIA of dietary fiber, vitamin A, folic acid and vitamin C was lower in smoker groups compared to non-smoker group and ND of those decreased with smoking amount.%DRI of dietary fiber and vitamin C was also lower and < DRI of those higher in smoker group. NIA and ND of dietary fiber and vitamin C, and %DRI also decreased with drinking frequency. NIA of energy, protein, saturated fatty acid, iron, thiamin, and niacin was the highest in overweight group by body mass index (BMI), NIA of fat and sodium increased with obesity by BMI, and only sodium was higher in obese group by waist circumference. Lower consumption of dietary fiber and vitamin C in the groups of higher smoking amount and drinking frequency, and higher consumption of fat and sodium in obese groups imply the dietary problem to be improved.
Conclusion
This result implies that the nutritional status of the groups of smoking, drinking, or obesity have been improved but more effort is required to sustain the health diet at the same time.
8.Perception of Vegetarian Day and Its Association with the Nutrition Quotient of Adolescents in Daejeon
Bo-Young LYUM ; Su-Ryeon HAN ; Yun-Jung BAE ; Mi-Kyeong CHOI
Journal of the Korean Dietetic Association 2025;31(2):91-100
The need to implement vegetarian meal plans in school meals to promote sustainable eating among adolescents is increasing. This study examined students’ perceptions of a vegetarian day, and its association with dietary quality. This study surveyed 372 adolescents (230 males, 142 females) in Daejeon, Korea, assessing their perceptions of a vegetarian day and their nutrition quotient for adolescents (NQ-A). The perception of a vegetarian day was 3.21 out of 5, showing no significant gender difference. Among all participants, the item “I think a vegetarian day will help students’ health” received the highest score (3.67). The item “I think a vegetarian day is about respecting the diversity of students” scored significantly higher among females than males, whereas the item “It is better to include meat substitutes as well as mixed grains, beans, vegetables and fruits on a vegetarian day” scored lower among females than males. Correlation analysis showed that the perceptions of a vegetarian day were significantly positively associated with the total NQ-A score and the moderation domain score in all participants. Based on these findings, efforts should be made to enhance the positive perceptions of a vegetarian day among adolescents while exploring various approaches to its effective implementation.
9.A Recurrent Nocardial Corneal Ulcer
Han-Young CHUNG ; Tae-Eun LEE ; In-Cheon YOU
Journal of the Korean Ophthalmological Society 2025;66(1):70-74
Purpose:
To present a case of recurrent Nocardia keratitis following the use of topical steroids.Case summary: A 57-year-old man presented with decreased visual acuity and conjunctival injection in the right eye which began 15 days prior. Slit-lamp examination revealed epithelial defects smaller than the circular infiltrate and empirical topical treatment was initiated. Since the corneal lesion improved with a therapeutic contact lens and topical antibiotics, a steroid eye drop was added. After 7 days, the corneal infiltrate worsened in a wreath-like pattern with a positive result on a KOH (potassium hydroxide) smear, and antifungal eye drops were started. However, Nocardia species was confirmed on the 9th day of culture. While complete epithelial regeneration was achieved after 10 days using amikacin eye drops, steroid eye drops were reused to reduce the corneal haze. Twenty days later, the corneal infiltrate and epithelial defects reappeared adjacent to the initial opacity, and a culture confirmed Nocardia. Gradual improvement was achieved with amikacin eye drops and oral Septrin. Ultimately, a combination of moxifloxacin, tobramycin, and bromfenac eye drops was tapered over several months, resulting in healing with mild opacity.
Conclusions
Nocardia keratitis commonly arises from trauma involving soil, progresses slowly, and is often misdiagnosed as a fungal infection. While amikacin eye drops proved effective, prolonged topical treatment is essential. Early steroid use should be considered cautiously, as it may lead to recurrence and worsening of the corneal lesion.
10.A Study of Rhegmatogenous Retinal Detachment in Patients in their 20s
Chang Yoon HAN ; Hyeong Seok KIM ; Young Ju LEW ; Chul Gu KIM ; Jong Woo KIM ; Sae Mi PARK
Journal of the Korean Ophthalmological Society 2025;66(3):158-163
Purpose:
To evaluate the characteristics, anatomical success rate, and factors that may affect the anatomical success of rhegmatogenous retinal detachment in patients in their 20s.
Methods:
We retrospectively analyzed the medical records of patients aged 20-29 years who underwent surgery for rhegmatogenous retinal detachment from January 2018 to December 2022. We examined factors such as sex, age, duration of illness, preoperative best corrected visual acuity, presence of underlying diseases, proliferative vitreoretinopathy, lattice degeneration, macular involvement, extent of retinal detachment at diagnosis, axial length, and myopia level to explore their impact on surgical outcomes.
Results:
The study included 122 eyes. The mean age was 23.81 ± 2.82 years, and the average sphere power was -5.80 ± 3.71 diopters (D). The percentage of eyes with a refraction of ≤ -6.0 D came to 44.3% (54/122), and with ≤ -4.0 D it amounted to 72.1% (88/122). The average logarithm of the minimum angle of resolution (logMAR) best corrected visual acuity improved significantly from 0.52 ± 0.68 before surgery to 0.28 ± 0.45 after surgery. The primary surgical success rates were 92.0% for scleral buckling, 88.9% for vitrectomy, and 92.3% for combined scleral buckling and vitrectomy, with no significant factors related to anatomical success identified.
Conclusions
There was a high prevalence of moderate to severe myopia among patients in their 20s with rhegmatogenous retinal detachment. However, no statistically significant correlation was found between the degree of myopia and anatomical success. Both functional and anatomical outcomes were generally favorable in these patients.

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