1.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2025;33(1):34-37
2.Assessing the Efficacy of Bortezomib and Dexamethasone for Induction and Maintenance Therapy in Relapsed/Refractory Cutaneous T-Cell Lymphoma: A Phase II CISL1701/BIC Study
Yoon Seok CHOI ; Joonho SHIM ; Ka-Won KANG ; Sang Eun YOON ; Jun Sik HONG ; Sung Nam LIM ; Ho-Young YHIM ; Jung Hye KWON ; Gyeong-Won LEE ; Deok-Hwan YANG ; Sung Yong OH ; Ho-Jin SHIN ; Hyeon-Seok EOM ; Dok Hyun YOON ; Hong Ghi LEE ; Seong Hyun JEONG ; Won Seog KIM ; Seok Jin KIM
Cancer Research and Treatment 2025;57(1):267-279
Purpose:
This multicenter, open-label, phase II trial evaluated the efficacy and safety of bortezomib combined with dexamethasone for the treatment of relapsed/refractory cutaneous T-cell lymphoma (CTCL) in previously treated patients across 14 institutions in South Korea.
Materials and Methods:
Between September 2017 and July 2020, 29 patients with histologically confirmed CTCL received treatment, consisting of eight 4-week cycles of induction therapy followed by maintenance therapy, contingent upon response, for up to one year. The primary endpoint was the proportion of patients achieving an objective global response.
Results:
Thirteen of the 29 patients (44.8%) achieved an objective global response, including two complete responses. The median progression-free survival (PFS) was 5.8 months, with responders showing a median PFS of 14.0 months. Treatment-emergent adverse events were generally mild, with a low incidence of peripheral neuropathy and hematologic toxicities. Despite the trend toward shorter PFS in patients with higher mutation burdens, genomic profiling before and after treatment showed no significant emergence of new mutations indicative of disease progression.
Conclusion
This study supports the use of bortezomib and dexamethasone as a viable and safe treatment option for previously treated CTCL, demonstrating substantial efficacy and manageability in adverse effects. Further research with a larger cohort is suggested to validate these findings and explore the prognostic value of mutation profiles.
3.Male preference for TERT alterations and HBV integration in young-age HBV-related HCC: implications for sex disparity
Jin Seoub KIM ; Hye Seon KIM ; Kwon Yong TAK ; Ji Won HAN ; Heechul NAM ; Pil Soo SUNG ; Sung Won LEE ; Jung Hyun KWON ; Si Hyun BAE ; Jong Young CHOI ; Seung Kew YOON ; Jeong Won JANG
Clinical and Molecular Hepatology 2025;31(2):509-524
Background/Aims:
Hepatocellular carcinoma (HCC) exhibits significant sex disparities in incidence, yet its molecular mechanisms remain unclear. We explored the role of telomerase reverse transcriptase (TERT) genetic alterations and hepatitis B virus (HBV) integration, both known major contributors to HCC, in sex-specific risk for HBV-related HCC.
Methods:
We examined 310 HBV-related HCC tissues to investigate sex-specific TERT promoter (TERT-pro) mutations and HBV integration profiles, stratified by sex and age, and validated with single-cell RNA sequencing (scRNA-seq) data.
Results:
Tumors predominantly exhibited TERT-pro mutations (26.0% vs. 0%) and HBV-TERT integration (37.0% vs. 3.0%) compared to non-tumorous tissues. While TERT-pro mutations increased with age in both sexes, younger males (≤60 years) showed marked predominance compared to younger females. Males had significantly more HBV integrations at younger ages, while females initially had fewer integrations that gradually increased with age. Younger males' integrations showed significantly greater enrichment in the TERT locus compared to younger females, alongside a preference for promoters, PreS/S regions, and CpG islands. Overall, TERT genetic alterations were significantly sex-differential in younger individuals (75.3% in males vs. 23.1% in females) but not in older individuals (76.9% vs. 83.3%, respectively). These alterations were associated with increased TERT expression. The skewed TERT abnormalities in younger males were further corroborated by independent scRNA-seq data.
Conclusions
Our findings highlight the critical role of TERT alterations and HBV integration patterns in the male predominance of HCC incidence among younger HBV carriers, offering insights for future exploration to optimize sex-specific patient care and HCC surveillance strategies.
4.Radiologic evolution of biopsy-proven acute interstitial nephritis: a multimodal imaging case report
Euljo JEONG ; Bong Soo PARK ; Il Hwan KIM ; Jung Hee SON ; Kyung Han NAM ; Yoon Ho LEE ; Yoo Jin LEE
Kosin Medical Journal 2025;40(1):72-79
This report presents radiologic changes after clinical improvement in a patient with acute interstitial nephritis (AIN). A 45-year-old female patient was referred for decreased renal function. Eight months prior, she had undergone hysterectomy and received chemotherapy. At the start of chemotherapy, her baseline creatinine level was 0.55 mg/dL, which rose to 1.46 mg/dL. Multiple imaging modalities performed when decreased renal function was observed revealed bilateral renal enlargement with increased cortical attenuation on computed tomography (CT), cortical hyperechogenicity on ultrasonography, and diffusion restriction in the renal cortices on magnetic resonance imaging. A renal biopsy was performed, and AIN was diagnosed. Follow-up laboratory tests showed that kidney function had improved to normal levels, and CT at that time showed a reduction in the size of both kidneys. Radiologic changes can serve as clues for the diagnosis of AIN. This is the first report to confirm radiological changes after the clinical improvement of AIN, thereby providing novel information about the course of AIN.
5.Factors Associated with Subjective Health Status among People with Spinal Cord Injury: An Application of the International Classification of Functioning, Disability and Health Model
Haesun LEE ; Hye Jin NAM ; Ju Young YOON
Journal of Korean Academy of Community Health Nursing 2025;36(1):73-84
Purpose:
This study aimed to identify factors influencing subjective health status among individuals with spinal cord injury (SCI) using the International Classification of Functioning, Disability and Health (ICF) model.
Methods:
This study analyzed secondary data from the 2021 Survey on the Status and Needs of Individuals with SCI conducted by the Korea Spinal Cord Injury Association. A hierarchical multiple regression analysis was conducted in four steps. Independent variables included sociodemographic factors, satisfaction with medical services (environmental factor), the need for weight control, the need for nutritional education, the need for dietary management, and disability acceptance (personal factors) along with exercise and activity of daily living (activity and participation factors). These factors were added sequentially at each step based on the ICF model.
Results:
A total of 513 participants were analyzed in this study, with an average subjective health status of 5.51±2.39. Higher satisfaction with medical services (β=.27, p<.001), frequent exercise (β=.19, p=.008), and a greater level of activities of daily living (β=.02, p<.001) were significantly associated with improved subjective health status. Conversely, a lower need for nutritional education (β=-.25, p=.042) was negatively associated.
Conclusion
This study highlighted satisfaction with medical services, nutrition education needs, exercise frequency, and activities of daily living as important factors. These findings provide insight into how the health status of individuals with SCI can be enhanced through targeted interventions and support from healthcare providers.
6.The Impact of Clinical Competence and Perception of Clinical Ladder System on Organizational Commitment among Nurses at a General Tertiary Hospital
Yeon Hee SHIN ; Mi Ra LEE ; Sung Nam KIM ; Min Jung KIM ; Ae Jin KIM ; Hyun Ja KIM ; Ji Yoon KANG
Journal of Korean Academy of Nursing Administration 2025;31(1):120-131
Purpose:
This study aimed to evaluate the performance of a clinical ladder system in a tertiary hospital by examining how nurses' clinical competence and perceptions of the system affect organizational commitment.
Methods:
The study involved 394 nurses working at a tertiary hospital. Data were collected from May 3 to July 10, 2023, using a self-reported questionnaire. Statistical analyses, including descriptive statistics, independent t-tests, one-way ANOVA, Kruskal-Wallis test, Scheffé post-hoc test, Pearson correlation, and hierarchical regression analysis, were performed using SPSS 27.0.
Results:
Nurses who applied for promotion to the CN III level and current CN III nurses reported higher clinical competence, perceptions of the clinical ladder system, and organizational commitment than those who did not and those at lower levels (p<.001). A positive correlation existed among all independent variables.Controlling for general characteristics, the effects of clinical competence and perceptions of the clinical ladder system explained 49% of organizational commitment variance (Adjusted R 2 =.49, F=33.43, p<.001).
Conclusion
Greater clinical competence and positive perceptions of the clinical ladder system are likely to enhance organizational commitment, emphasizing its effectiveness in fostering better organizational outcomes.
7.Consensus Statements on Tinnitus Assessment and Treatment Outcome Evaluation: A Delphi Study by the Korean Tinnitus Study Group
Oak-Sung CHOO ; Jung Mee PARK ; Euyhyun PARK ; Jiwon CHANG ; Min Young LEE ; Ho Yun LEE ; In Seok MOON ; Jae-Jun SONG ; Kyu-Yup LEE ; Jae-Jin SONG ; Eui-Cheol NAM ; Shi Nae PARK ; Hyun Joon SHIM ; Yoon Chan RAH ; Jae-Hyun SEO
Journal of Korean Medical Science 2025;40(7):e93-
Background:
Tinnitus is a multifactorial condition with no universally accepted assessment guidelines. The Korean Tinnitus Study Group previously established consensus statements on the definition, classification, and diagnostic tests for tinnitus. As a continuation of this effort, this study aims to establish expert consensus on tinnitus assessment and treatment outcome evaluation, specifically tailored to the Korean clinical context.
Methods:
A modified Delphi method involving 26 otology experts from across Korea was used. A two-round Delphi survey was conducted to evaluate statements related to tinnitus assessment before and after treatment. Statements were rated on a scale of 1 to 9 for the level of agreement. Consensus was defined as ≥ 70% agreement (score of 7–9) and ≤ 15% disagreement (score of 1–3). Statistical measures such as content validity ratio and Kendall’s coefficient of concordance (W) were calculated to assess agreement levels.
Results:
Of the 46 assessment-related statements, 17 (37%) reached consensus, though overall pre-treatment assessments showed weak agreement (Kendall’s W = 0.319). Key areas of agreement included the use of the visual analogue scale, numeric rating scale, and validated questionnaires for pre-treatment evaluation. Five statements, such as the use of computed tomography, magnetic resonance imaging, and angiography for diagnosing pulsatile tinnitus, achieved over 90% agreement. For treatment outcome measurements, 8 of 12 statements (67%) reached a consensus, with moderate agreement (Kendall’s W = 0.513). Validated questionnaires and psychoacoustic tests were recommended for evaluating treatment effects within 12 weeks. While standardized imaging for pulsatile tinnitus and additional clinical tests were strongly recommended, full consensus was not achieved across all imaging modalities.
Conclusion
This study provides actionable recommendations for tinnitus assessment and treatment evaluation, emphasizing the use of standardized tools and individualized approaches based on patient needs. These findings offer a practical framework to enhance consistency and effectiveness in tinnitus management within Korean clinical settings.
8.Neutralizing Activity and T-Cell Responses Against Wild Type SARSCoV-2 Virus and Omicron BA.5 Variant After Ancestral SARS-CoV-2 Vaccine Booster Dose in PLWH Receiving ART Based on CD4 T-Cell Count
Na Young HA ; Ah-Ra KIM ; Hyeongseok JEONG ; Shinhye CHEON ; Cho Rong PARK ; Jin Ho CHOE ; Hyo Jung KIM ; Jae Won YOON ; Miryoung KIM ; Mi Yeong AN ; Sukyoung JUNG ; Hyeon Nam DO ; Junewoo LEE ; Yeon-Sook KIM
Journal of Korean Medical Science 2025;40(9):e28-
Background:
We evaluated severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2)-specific humoral and cellular responses for up to 6 months after the 3rd dose of ancestral coronavirus disease 2019 (COVID-19) vaccination in people living with HIV (PLWH) and healthy controls (HCs) who were not infected with COVID-19.
Methods:
Anti-spike receptor-binding domain IgG (anti-RBD IgG) concentrations using chemiluminescence immunoassay and neutralizing antibodies using focus reduction neutralization test (FRNT) were assessed at 1 week after each dose of vaccination, and 3 and 6 months after the 3rd dose in 62 PLWH and 25 HCs. T-cell responses using intracellular cytokine stain were evaluated at 1 week before, and 1 week and 6 months after the 3rd dose.
Results:
At 1 week after the 3rd dose, adequate anti-RBD IgG (> 300 binding antibody unit /mL) was elicited in all PLWH except for one patient with 36 CD4 T-cell count/mm3 . The geometric mean titers of 50% FRNT against wild type (WT) and omicron BA.5 strains of SARS-CoV-2 in PLWH with CD4 T-cell count ≥ 500 cells/mm3(high CD4 recovery, HCDR) were comparable to HC, but they were significantly decreased in PLWH with CD4 T-cell count < 500/mm3 (low CD4 recovery, LCDR). After adjusting for age, gender, viral suppression, and number of preexisting comorbidities, CD4 T-cell counts < 500/mm3 significantly predicted a poor magnitude of neutralizing antibodies against WT, omicron BA.5, and XBB 1.5 strains among PLWH. Multivariable linear regression adjusting for age and gender revealed that LCDR was associated with reduced neutralizing activity (P = 0.017) and interferon-γ-producing T-cell responses (P = 0.049 for CD T-cell; P = 0.014 for CD8 T-cell) against WT, and strongly associated with more decreased cross-neutralization against omicron BA.5 strains (P < 0.001).
Conclusion
HCDR demonstrated robust humoral and cell-mediated immune responses after a booster dose of ancestral SARS-CoV-2 vaccine, whereas LCDR showed diminished immune responses against WT virus and more impaired cross-neutralization against omicron BA.5 strain.
9.Consensus Statements on Tinnitus Treatment: A Delphi Study by the Korean Tinnitus Study Group
Junhui JEONG ; Ho Yun LEE ; Oak-Sung CHOO ; Hantai KIM ; Kyu-Yup LEE ; Jae-Jin SONG ; Jae-Hyun SEO ; Yoon Chan RAH ; Jae-Jun SONG ; Eui-Cheol NAM ; Shi Nae PARK ; In Seok MOON ; Hyun Joon SHIM
Journal of Korean Medical Science 2025;40(18):e75-
Background:
Tinnitus is a bothersome condition associated with various mechanisms of action. Although treatment methods vary according to these mechanisms, standardized guidelines would benefit both patients and clinicians. We conducted a Delphi study, a method that collects expert opinions through multiple rounds of questionnaires, to reach a consensus on tinnitus treatment with professional experts.
Methods:
A two-round modified Delphi survey was conducted to develop a clinical consensus on tinnitus treatment. The experts scored each statement on a scale of 1 (highest disagreement) to 9 (highest agreement) for their level of agreement on tinnitus treatment.Consensus was defined when 75% or more of the participants scored 7–9, and 15% or less scored 1–3. To ensure reliability of the responses, the content validity ratio and Kendall’s coefficient of concordance were evaluated.
Results:
Approximately 19 of 31 statements reached a consensus. All 3 statements reached a consensus regarding the candidates for treatment. Regarding treatment, 3 of 8 statements on medication, 2 of 2 statements on tinnitus retraining therapy/cognitive behavioral therapy, and 5 of 7 statements on auditory rehabilitation reached a positive consensus. Although all 6 statements regarding miscellaneous treatment reached a consensus, most were negatively agreed. For treatment with neuromodulation, none of the 5 statements reached a consensus.
Conclusion
The experts reached a high level of consensus on treatment candidates, tinnitus retraining therapy/cognitive behavioral therapy, and auditory rehabilitation in this modified Delphi study. The results of this study can provide beneficial and practical information for clinicians regarding the treatment of tinnitus.
10.Integration of Palliative Care in Neurosurgical Critical Care : Insights from a Single-Center Perspective
Nam Hee KIM ; Yejin KIM ; Se Yeon KIM ; Hyoung Suk HAN ; Hye Yoon PARK ; Eun Jin HA ; Shin Hye YOO
Journal of Korean Neurosurgical Society 2025;68(2):213-222
Objective:
: Palliative care is a specialized approach designed to enhance the quality of life for both patients and their families, offering patient-centered care through comprehensive assessment and care planning. However, the integration of palliative care within neurocritical care settings has been relatively understudied. This descriptive study aims to identify the characteristics, palliative care needs, and outcomes of patients referred to palliative care services during admission to the neurosurgical intensive care unit (NS-ICU).
Methods:
: A retrospective analysis of adults admitted to the NS-ICU at a referral hospital between December 2019 and December 2021 was conducted. The study focused on those referred to the inpatient palliative care team with diagnoses of non-traumatic brain hemorrhage, traumatic brain injury, or brain neoplasm. Excluded were patients who died before palliative care consultation or lacked sufficient information. The investigation assessed demographic and clinical characteristics at consultation, along with post-consultation hospital outcomes derived from medical records and interview notes.
Results:
: In this study involving 38 enrolled patients, the median age was 65, with 42.1% females. The most prevalent diagnosis was nontraumatic brain hemorrhage (47.4%). Reasons for palliative care consultation included psychosocial support (95%), goal-of-care discussions (68%), decision-making support (50%), and communication facilitation (39%). The median time from NS-ICU admission to consultation was 3.5 days (interquartile range, 1–8 days), and all interviews involved family members. Key decision topics encompassed mechanical ventilation (23.7%) and tracheostomy (21.1%). Patient preferences for life-sustaining treatment could be estimated in only 47.4% of cases, often resulting in treatment disagreement. Among the 38 patients, 26 (68.4%) died during admission. Before the consultation, full code status, partial code status, and comfort care alone were reported as 32%, 66%, and 2%, respectively; post-consultation, these figures shifted to 11%, 42%, and 47%, respectively.
Conclusion
: Palliative care was predominantly sought for psychosocial support and discussions concerning goals of care. Despite challenges in ascertaining patient treatment preferences, palliative care consultations proved invaluable in aiding family members and facilitating treatment decision-making. Our study suggests the potential integration of palliative care within neuro-critical care, contributing to a heightened utilization of comfort care at the end-of-life.

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