3.Current Clinical Perspectives on Rosacea Management: Insights From a Korean Multicenter Expert Opinion Survey
Bo Ri KIM ; Sejin OH ; Ju Hee HAN ; Jimyung SEO ; Hyun-Min SEO ; Soon-Hyo KWON ; Hoon CHOI ; Jung U SHIN ; Jae We CHO ; Boncheol Leo GOO ; Jung-Im NA ; Dong Hun LEE ; Chun Pill CHOI ; HaeWoong LEE ; Joo Yeon KO ; Hwa Jung RYU ; Nark-Kyoung RHO ; Hyunjo KIM ; Ga-Young LEE ; Jong Hee LEE ; Nala SHIN ; Sang Ju LEE ; Suk Bae SEO ; Geun Soo LEE ; Hei Sung KIM ; Chang-Hun HUH
Annals of Dermatology 2026;38(1):42-50
Background:
Rosacea is a chronic inflammatory skin disorder characterized by erythema, papules, ocular symptoms, and heightened sensitivity. Patients with neurogenic symptoms such as burning or stinging remain particularly difficult to manage. Current guidelines often underrepresent energy-based devices (EBDs), pigmentary sequelae, psychosocial burden, and ocular comorbidities.
Objective:
To examine Korean dermatologists’ expert perspectives on rosacea management, focusing on skin sensitivity, neurogenic symptoms, pigmentary changes, psychosocial impact, ocular involvement, and EBD use.
Methods:
A web-based, 29-item survey was administered to 25 board-certified Korean dermatologists (May–June 2025). Quantitative and qualitative responses were analyzed.
Results:
Erythematotelangiectatic and papulopustular phenotypes with sensitivity skin predominated. EBDs (pulsed dye laser, intense pulsed light) were frequently used but limited by cost and sensitivity issues. Neurogenic symptoms were recognized but rarely treated with neuromodulators. Post-inflammatory hyperpigmentation was infrequent, yet monitoring was inconsistent.Psychosocial and ocular aspects were acknowledged but seldomly systematically addressed.Respondents expressed interest in emerging adjunctive treatments such as cold plasma, skin boosters, and holistic care approaches.
Conclusion
Korean dermatologists adopt individualized strategies for rosacea, yet practice gaps remain regarding neurogenic symptoms, pigmentary complications, and psychosocial and ocular comorbidities. Findings support the need for updated multidisciplinary, phenotype-driven guidelines aligned with real-world practice.
5.Unique TTR Variants D38A and M13dup Among Korean Patients with Hereditary Transthyretin Amyloidosis:A Retrospective Single-Center Cohort Study
Min-Seung PARK ; Jae Joon LEE ; Darae KIM ; Jin-Oh CHOI ; Seok Jin KIM ; Kihyun KIM ; Ju-Hong MIN ; Hyun-Young KIM ; Hee-Jin KIM
Annals of Laboratory Medicine 2026;46(3):309-318
Background:
Transthyretin amyloidosis, a protein-misfolding disorder characterized by systemic amyloid deposition, can be classified as wild-type transthyretin amyloidosis (ATTRwt) or hereditary transthyretin amyloidosis (ATTRv), depending on the presence of transthyretin (TTR) gene variants. We examined the genetic distribution of TTR variants in Korean patients diagnosed with ATTRv.
Methods:
We retrospectively reviewed 801 participants who underwent TTR analysis at Samsung Medical Center from 2012 to 2024. The participants were categorized into two groups: in-house probands or relatives, and externally referred probands or relatives.
Results:
Pathogenic or likely pathogenic TTR variants were detected in 36 of 165 in-house probands (21.8%), among which D38A was the most frequent variant (50.0%; 18/36), followed by M13dup and E89K (8.3% each). Among referred probands, D38A was predominant (54.5%; 12/22), followed by M13dup (22.7%; 5/22). Cardiac amyloid involvement was the most common manifestation, observed in 97.2% (35/36) of in-house probands with ATTRv, followed by peripheral nervous system (PNS; 94.4%) and autonomic nervous system (ANS; 88.9%) involvement. In contrast, ANS involvement was most prevalent among in-house relatives who underwent organ evaluation (61.5%; 24/39), followed by cardiac (52.1%; 25/48) and PNS (48.7%; 19/39) involvement. Five of the eight in-house relatives harboring M13dup (62.5%) showed organ involvement, primarily in the ANS, supporting the pathogenicity of this variant.
Conclusions
This study provides the largest single-institution dataset of Korean patients with ATTRv, incorporating systematic organ assessments. The predominance of the unique TTR variants D38A and M13dup delineates a distinct genetic landscape that may facilitate accurate and timely diagnosis of ATTRv in the Korean population.
6.Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia
Hyun-Young KIM ; Boram KIM ; Min-Seung PARK ; Jong-Ho PARK ; Hee Young JU ; Keon Hee YOO ; Jun Ho JANG ; Chul Won JUNG ; Hee-Jin KIM
Annals of Laboratory Medicine 2026;46(3):257-269
Background:
Fusion genes are major drivers of acute leukemia. Conventional diagnostics are limited in detecting the diverse fusions included in recently updated acute leukemia classifications. We evaluated the fusion detection performance of RNA sequencing (RNAseq) compared with that of conventional diagnostics in patients with acute leukemia.
Methods:
We retrospectively obtained the data of 101 patients with acute leukemia who underwent conventional diagnostics (i.e., karyotyping, FISH, or multiplex reverse transcription PCR) at diagnosis at Samsung Medical Center, Seoul, Korea, between September 2022 and September 2023. Whole RNA-seq was performed using the Illumina Stranded mRNA Prep kit (Illumina, San Diego, CA, USA). The concordance, sensitivity, and specificity of RNA-seq for fusion gene detection were compared with those of conventional diagnostics.
Results:
RNA-seq helped identify 52 fusion genes in 51 (50.5%) of 101 patients, with detection rates of 40.7%, 70.3%, 37.5%, and 50% in acute myeloid leukemia, B-cell acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemia, and mixed-phenotype acute leukemia, respectively. RNA-seq showed 83.3% sensitivity and 80.8% concordance with conventional diagnostics; it missed eight fusions, likely because of low transcript abundance or enhancer hijacking. RNA-seq also helped clarify three previously unspecified rearrangements and detected 12 fusions (21.4%) in 56 cases that tested negative with conventional diagnostics, including four novel (KMT2A::THAP12 , RUNX1::PRPF19 , MLLT10::UBE2L6, and FUS::ZNF362) and three rare (HNRNPH1::ERG, RUNX1::USP42, and ETV6::NCOA2) fusions.
Conclusions
This was the first study to evaluate the performance of whole RNA-seq in fusion detection in patients with acute leukemia in Korea. Incorporating RNA-seq into diagnostic workflows may facilitate earlier and more precise therapeutic decisions and improve prognostic assessment in patients with acute leukemia.
7.Early prediction of transient versus permanent congenital hypothyroidism: a retrospective cohort study
Myung Ji YOO ; Ji-Eun LEE ; Eun Young JOO ; Jisun PARK ; Young Ju SUH ; Su Jin KIM
Annals of Pediatric Endocrinology & Metabolism 2026;31(1):38-44
Purpose:
Early differentiation between transient congenital hypothyroidism (TCH) and permanent congenital hypothyroidism (PCH) is crucial for optimizing the duration of treatment. This retrospective cohort study aimed to evaluate whether levothyroxine (LT4) dose requirements over time can predict TCH and guide earlier discontinuation of treatment.
Methods:
We retrospectively analyzed 105 infants with congenital hypothyroidism and normal thyroid glands confirmed by imaging at a single tertiary care center (Inha University Hospital) between January 2013 and December 2022. Patients were classified into TCH (n=70) or PCH (n=35) based on thyroid function after LT4 withdrawal at 3 years of age. LT4 dose/kg at 6, 12, and 24 months, along with clinical and biochemical parameters, were compared between the 2 groups. Receiver operating characteristic (ROC) curve analysis was used to assess the predictive performance of LT4 dose thresholds.
Results:
The LT4 dose was significantly lower in the TCH group at 6 (3.16±0.83 μg/kg vs. 3.75±0.99 μg/kg, P=0.005), 12 (2.51±0.82 μg/kg vs. 3.37±1.17 μg/kg, P<0.001), and 24 months (2.02±0.61 μg/kg vs. 3.09±1.19 μg/kg, P<0.001). ROC curve analysis showed an area under the curve (AUC) of 0.649, 0.746, and 0.794 at 6, 12, and 24 months, respectively. A logistic regression model incorporating LT4 dose, birth weight, and thyroid-stimulating hormone (TSH) levels improved prediction accuracy (AUC: 0.740, 0.782, 0.833 at 6, 12, and 24 months, respectively).
Conclusion
LT4 dose requirements at 6, 12, and 24 months serve as useful indicators for differentiating TCH from PCH. A combined predictive model incorporating LT4 dose, birth weight, and TSH levels may improve diagnostic accuracy, supporting earlier discontinuation of treatment.
8.End-of-Life Care Preparedness, Importance, Performance, and Educational Needs of Care Workers for Integrated Care Support
Jae Eun JAE EUN ; Ju Young PARK ; Young Gil JEONG
Journal of Hospice and Palliative Care 2026;29(2):27-40
Purpose:
This study examined the levels of end-of-life care preparedness, importance, performance, and educational needs among community-based home care workers and identified factors influencing end-of-life care performance to inform hospice/end-of-life care education programs.
Methods:
This study used a descriptive, correlational design. The participants were 152 community-based home care workers with at least 6 months of work experience. Data were collected using structured questionnaires that assessed end-of-life care preparedness, importance, performance, and educational needs. Data were analyzed using descriptive statistics, correlation analysis, importance-performance analysis (IPA), and hierarchical multiple regression analysis using SPSS version 29.0.
Results:
Overall, end-oflife care performance was significantly lower than its perceived importance (t=14.41, P< 0.001), with the largest gaps observed in the caregiving support and emotional support domains. In the IPA, multiple items related to death preparation for patients/families, spiritual/ emotional support, and care around the time of death fell into the low-importance/lowperformance quadrant. Educational needs positively correlated with importance, intention,confidence, preparedness, and performance. In hierarchical regression, preparedness (β =0.21, P=0.03) and importance (β=0.26, P<0.001) significantly predicted performance, explaining 15% of variance.
Conclusion
End-of-life care performance among home care workers was influenced by psychological factors, including preparedness, importance, and confidence in end-of-life care, as well as institutional and environmental factors. Standardized educational programs and organizational support are required to improve the quality of community-based end-of-life care.
9.Factors Influencing End-of-Life Care Performance Among Community Care Workers Prior to the Implementation of the Integrated Care Support Act: Focusing on Home Care Aides
Jae Eun YU ; Ju Young PARK ; Young Gil JEONG
Journal of Hospice and Palliative Care 2026;29(1):10-20
Purpose:
This study aimed to identify the factors influencing end-of-life care performance among community-based care workers prior to the implementation of the Integrated Care Support Act in South Korea.
Methods:
A cross-sectional survey was conducted among 153 community care workers who provided home-based services. Data were collected using structured questionnaires that assessed perceptions of a good death, attitudes toward end-of-life care, end-of-life care stress, and end-of-life care performance. Data analysis included descriptive statistics, independent t tests, Pearson correlation coefficients, and hierarchical multiple regression using SPSS version 29.0.
Results:
End-of-life care performance demonstrated a significant positive correlation with end-of-life care stress (r=0.43,P<0.001). Hierarchical regression analysis identified end-of-life care stress (β=0.32, P< 0.001), gender (female; β=–0.20, P=0.01), and intention to participate in end-of-life care education (β=–0.20, P=0.01) as significant predictors. The final model explained 25%of the variance in end-of-life care performance.
Conclusion
End-of-life care stress was the strongest predictor of performance among community-based care workers, along with gender and intention to participate in end-of-life care education. These findings suggest that, when appropriately managed and supported, end-of-life care stress may function as a motivating factor rather than solely a burden. Therefore, structured education and emotional support interventions—such as debriefing and peer-based supervision—are recommended. Additionally, the implementation of the Integrated Care Support Act should be accompanied by institutional systems that facilitate effective end-of-life care practices.
10.Lateral Closing Wedge Supramalleolar Osteotomy with Inframalleolar Correction as a Joint-Preserving Procedure for Valgus Ankle Osteoarthritis: A Case Report
Ju Hwan PARK ; Jin Soo SUH ; Ji-Ye KIM ; Jun Young CHOI
Journal of Korean Foot and Ankle Society 2026;30(2):73-79
A medial closing wedge supramalleolar osteotomy, along with corrections for pes plano-valgus, including medial displacement calcaneal osteotomy, and deltoid ligament repair or reconstruction, is most commonly considered for the joint-preserving surgery of valgus ankle arthritis. In cases of ‘opposing coronal plane deformities,’ however, where the tibial plafond is varus-aligned to the long axis of the tibia and the ground, while the talus is conversely valgus-aligned, medial closing wedge supramalleolar osteotomy may paradoxically risk exacerbating the valgus ankle arthritis. This paper reports the radiological and clinical outcomes of an otherwise healthy, physically active 55-year-old male patient with valgus ankle arthritis and opposing coronal-plane deformities, along with a literature review. The patient underwent joint-preserving surgery consisting of lateral closing wedge supramalleolar osteotomy, fibular osteotomy, medial displacement calcaneal osteotomy, and deltoid ligament augmentation with suture tape. This paper discusses the critical considerations and surgical precautions necessary when deciding on joint-preserving procedures for valgus ankle arthritis.

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