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.

Background: Single nucleotide polymorphism-based chromosomal microarray analysis (CMA) can detect regions of homozygosity (ROHs), which may be associated with medical conditions; however, limited ROH data, especially in East Asians, complicates clinical interpretations. We characterized ROH distributions and frequencies in a Korean population using CMA, highlighting clinically relevant findings, including suspected uniparental disomy (UPD), using standardized criteria. Methods: We analyzed ROHs in 1,731 individuals who underwent postnatal CMA at a Ko-rean medical center. ROHs ≥ 3 Mb long were detected using the CytoScan Dx platform and Chromosome Analysis Suite Dx. Suspected UPD and consanguinity were assessed per the American College of Medical Genetics and Genomics technical standards. Results: We identified 3,962 ROHs, with 76.7% of patients carrying at least one. Common “hotspot” regions included 3p21.31p21.1 (20.3%), 11p11.2 (18.2%), 1q21.1q21.3(17.7%), and 1p33p32.3 (12.0%). Almost all ROHs observed in > 1% of patients had a median size of < 5 Mb. ROH frequencies correlated negatively with chromosomal recombina-tion rates and positively with gene densities. Additionally, 1.2% (N = 21) of patients exhib-ited ROH patterns suggestive of UPD or consanguinity (13 suspected UPDs on imprinted chromosomes, 6 on non-imprinted chromosomes, and 2 consanguinities); 8 of 13 patients with suspected UPD were diagnosed as having imprinting disorders, with no pathogenic copy number variations detected. Conclusions Our population-specific ROH data for Koreans improve clinical interpretations by minimizing the risk of overinterpreting benign variants and highlight the value of standardized criteria for reliably detecting UPD and consanguinity and integrating ROH analysis into routine CMA interpretations.

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.

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.

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.

Objective: To identify the asymmetric spinal stabilizing exercise (ASSE) postures that selectively activate the multifidus (Mu) relative to the erector spinae (ES) in patients with adolescent idiopathic scoliosis (AIS), thereby supporting the development of curve-specific exercise programs for three-dimensional spinal deformities. Methods: Surface electromyography recordings were obtained bilaterally from the ES and Mu muscles during ASSE postures. Signals were normalized to the maximal voluntary isometric contraction. The asymmetry ratio, Mu/ES ratio, and additional asymmetric contraction of the Mu were analyzed. Results: The study included 40 patients with AIS. The Mu demonstrated greater ipsilateral activation in the side-lying posture, whereas greater contralateral activation was observed during unilateral lower extremity lifting and combined upper–lower extremity lifting in the prone posture, as well as during combined upper–lower extremity lifting in the bird-dog posture. In the prone and bird-dog postures, the Mu/ES ratio exceeded 1.0, indicating relatively stronger Mu recruitment under rotational loading. Additional asymmetric contraction of the Mu was greatest in the side-lying posture (47%), with differences<15% in all other postures. Conclusion ASSE induces posture-specific asymmetric activation of the paraspinal muscles in patients with AIS. Although the side-lying posture produced the largest asymmetry, this reflected increased ES activity for trunk elevation rather than true selective Mu contraction. In contrast, the prone and bird-dog postures demonstrated a greater Mu contribution relative to the ES under rotational loading. These findings suggest that ASSE can be adapted to target specific paraspinal muscle components: side lying for lateral bending and bird-dog variations to enhance rotational stability.

Purpose: This study aimed to address the shift toward competency-based education and the planned 2028 “Integrated Nursing” National Licensing Examination (NLE), this study aimed to establish structural alignment among NLE domains, the seven integrated nursing competencies (INCs), and curriculum goals, with a particular focus on implementing symptom-based clinical reasoning (SBCR). Methods: This Delphi-based methodological study included seven content experts for content validity index (CVI) assessment and 24 nursing education experts who participated in a consensus workshop. The item-level CVI and the scale-level CVI/average were calculated to confirm the linkage between INCs and NLE domains. In addition, qualitative analysis of workshop materials and meeting records was conducted to derive 10 integrated learning topics and to develop an SBCR educational model for the key symptom of headache, grounded in Miller’s Clinical Competence Pyramid (levels 2–4). Results: The analysis confirmed the validity of integrating the INCs within the overall curriculum structure. The resulting framework delineates staged learning objectives and core clinical questions designed to systematically enhance clinical reasoning, promote safe nursing practice, and support professional reflection within a unified curriculum. Conclusion This study provides a practical foundation for nursing curriculum redesign by facilitating a transition from fragmented, subject-based instruction to a holistic, patient-centered SBCR model. This approach aligns with the requirements of the integrated NLE and is expected to contribute to meaningful improvements in actual clinical competency.