1.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.
2.Clinical Outcomes and Use of Implantable Cardioverter-Defibrillator in Ischemic Heart Failure Patients with Reduced Ejection Fraction:A Retrospective Observational Study
Kyung Hoon CHO ; Ki Hong LEE ; Yong-Kyu LEE ; Seok OH ; Yongwhan LIM ; Joon Ho AHN ; Seung Hun LEE ; Dae Young HYUN ; Min Chul KIM ; Doo Sun SIM ; Young Joon HONG ; Ju Han KIM ; Youngkeun AHN ; Jang Hoon LEE ; Joo-Yong HAHN ; Yu-Ri KIM ; Nam Sik YOON ; Hyung Wook PARK ; Weon KIM ; Myung Ho JEONG ;
Chonnam Medical Journal 2026;62(2):55-63
Limited data exist regarding the real-world practices and clinical outcomes in patients with ischemic heart failure with reduced left ventricular ejection fractions (LVEFs).Using nationwide registry data from South Korea, we aimed to investigate long-term outcomes and clinical practices, especially implantable cardioverter defibrillators (ICDs) implantation, in patients with reduced LVEFs at least 40 days after acute myocardial infarction (AMI). Of 13,056 patients with AMI between 2011 and 2015, we analyzed 350 (median age, 66 years [interquartile range, 56-75]) who had LVEFs <40% on follow-up transthoracic echocardiogram 40 days after the index event. The primary outcome was cardiac-cause mortality at 3 years. Secondary outcomes comprised major cardiovascular events as well as outcomes defined by the use of ICDs, cardiac resynchronization therapy defibrillators (CRT-Ds), and electrophysiology studies. Among 350 patients, 39 (11.1%) died from cardiac causes during 3 years of follow-up. Eleven (3.1%) were hospitalized for ventricular tachycardia. The rate of ICD or CRT-D implantation up to 3 years was 5.7% (20/350). Cox time-to-event analysis revealed older age, LVEF <30%, diabetes mellitus, and previous MI or revascularization as positively associated with cardiac death, whereas the use of statins and body weight <67 kg were negatively associated. This nationwide Korean registry demonstrated that only 5.7% of patients who had reduced LVEFs after 40 days of AMI underwent ICD implantations over 3 years. Considering the high mortality, concerted efforts are needed to improve clinical outcomes for patients who may have been candidates for ICD implantation.
3.Surveillance of avian influenza viruses in migratory wild birds in South Korea, 2019–2025
Jae Kyung LEE ; Min Beom KIM ; Seo Hyeon KIM ; Song Hwi JEONG ; HaanWoo SUNG ; Hyung-Kwan JANG ; Kang-Seuk CHOI ; Daesung YOO ; Se-Hee AN ; Gyeong-Beom HEO ; Yong-Myung KANG ; Youn-Jeong LEE ; Kwang-Nyeong LEE ; Young Ju LEE
Journal of Veterinary Science 2026;27(2):07-2025
Objective:
We investigated the distribution of AI viruses in fecal samples from wild bird habitats (and nearby poultry-farm areas) surveyed between September and March from 2019 to 2025 and identified associated epidemiological risk factors.
Methods:
Samples were screened for influenza A (M, H5, H7) genes using real-time reverse transcription polymerase chain reaction (PCR), subjected to virus isolation in embryonated chicken eggs, and subtyped by PCR and sequencing. Host species were identified through DNA barcoding. Relative risks (RRs) with 95% confidence intervals were estimated for province, month, and waterfowl density.
Results:
Overall prevalence of HPAI and low pathogenic AI (LPAI) virus was 0.10% and 3.21%, respectively. HPAI virus was continuously isolated since 2020–2021, except 2019– 2020, while LPAI prevalence steadily increased (3.01%–4.35%). Twelve hemagglutinin (H1–H12) subtypes were identified in 1,722 isolates, and H3 (16.5%) was the most prevalent, followed by H5 (11.1%) and H7 (5.2%). LPAI H5N3 (55.7%) and H7N7 (75.5%) were the predominant H5 and H7 subtypes, respectively. Detection was higher in western coastal provinces, and higher mallard/spot-billed duck density and sampling in September– December were associated with increased risk.
Conclusions
and Relevance: Continued surveillance of migratory-bird habitats can provide early warning of HPAIV incursions and support targeted biosecurity measures in high-risk regions and seasons.
4.Comparison of reference management software with new artificial intelligence-based tools
Jae Gyeong JIN ; Seung Gyu LEE ; Jea Hyeun PARK ; Jang Won HAN ; Jae Young KIM ; Jungirl SEOK ; Jeong-Ju YOO
Journal of Educational Evaluation for Health Professions 2026;23(1):2-
Reference management software (RMS) represents a cornerstone of modern academic writing and publishing. For decades, programs such as EndNote, Zotero, and Mendeley have played central roles in facilitating citation organization, bibliography formatting, and collaborative scholarship. Although each platform has introduced unique innovations, persistent limitations remain, particularly with respect to usability, accessibility, and accuracy. In parallel, the rise of generative artificial intelligence has introduced an unprecedented challenge: the inadvertent inclusion of fabricated or incorrect references mistakenly incorporated into manuscripts. This phenomenon has exposed a critical limitation of traditional RMS platforms, namely their inability to verify reference authenticity. Against this backdrop, new solutions have emerged. One such example is CiteWell (https://citewell.org/), an artificial intelligence (AI)-era RMS that introduces several notable innovations, including PubMed-integrated verification, an intuitive interface for new users, customizable journal-specific styles, and multilingual accessibility. This review provides a comprehensive historical overview of RMS, evaluates the strengths and weaknesses of major platforms, and positions emerging AI-based tools as a new paradigm that combines traditional reference management with essential safeguards for contemporary academic challenges.
5.Clinical Characteristics and Survival Data of Korean Malignant Melanoma in Situ:A Single-Center Experience with 156 Patients (2008∼2021)
Jin Seon BANG ; Jin Ho KIM ; Do Young PARK ; Seok-Jong LEE ; Nam Gyoung HA ; Dae-Lyong HA ; Yong Hyun JANG ; Weon Ju LEE ; Jun Young KIM
Korean Journal of Dermatology 2026;64(1):10-17
Background:
Although patients with malignant melanoma in situ (MIS) have a high survival rate, a risk of recurrence or upstaging remains. Thus, a comprehensive understanding of its prognosis is essential for optimal patient management.
Objective:
To investigate the clinical characteristics and survival outcomes of Korean patients with MIS.
Methods:
We retrospectively analyzed the medical records and photographs of patients with MIS treated at a single tertiary center between 2008 and 2021. Clinical features, including diagnosis, treatment, recurrence, and mortality, were examined.
Results:
A total of 156 patients with MIS were included, with a mean age of 59.3 years. The most common subtype was acral lentiginous melanoma (80.8%). Delayed diagnosis was associated with subungual MIS (SUMis; p <0.05). Among the subtypes other than SUMis, 77.3% met three or more of the ABCD criteria for melanoma.Hutchinson’s sign was observed in 67.3% of cases of SUMis. Ulceration was present in only two cases (1.3%).Recurrence occurred in nine patients (5.8%), with four (2.6%) experiencing relapse after 5 years. Upstaging was observed in two patients (1.3%) due to intralymphatic or regional nodal metastasis occurring at 19 and 10 months post-treatment. The 5-year and 10-year melanoma-specific/overall survival rates were 100.0/96.9% and 100.0/89.0%, respectively.
Conclusion
Although the survival rates of patients with MIS are high, long-term and close follow-up after treatment is essential because of the possibility of late recurrence and rare instances of intralymphatic or regional nodal metastasis. Additionally, the presence of clinical ulceration is highly suggestive of invasive melanoma.
6.Consensus-Based Guidelines for the Treatment of Atopic Dermatitis in Korea (Part II): Biologics and JAK inhibitors
Hyun-Chang KO ; Yu Ri WOO ; Joo Yeon KO ; Hye One KIM ; Chan Ho NA ; Youin BAE ; Young-Joon SEO ; Min Kyung SHIN ; Jiyoung AHN ; Bark-Lynn LEW ; Dong Hun LEE ; Sang Eun LEE ; Sul Hee LEE ; Yang Won LEE ; Ji Hyun LEE ; Yong Hyun JANG ; Jiehyun JEON ; Sun Young CHOI ; Ju Hee HAN ; Tae Young HAN ; Sang Wook SON ; Sang Hyun CHO
Annals of Dermatology 2025;37(4):216-227
Background:
Atopic dermatitis (AD) is a common skin disease with a wide range of symptoms. Due to the rapidly changing treatment landscape, regular updates to clinical guidelines are needed.
Objective:
This study aimed to update the guidelines for the treatment of AD to reflect recent therapeutic advances and evidence-based recommendations.
Methods:
The Patient characteristics, type of Intervention, Control, and Outcome framework was used to determine 48 questions related to AD management. Evidence was graded, recommendations were determined, and, after 2 voting rounds among the Korean Atopic Dermatitis Association (KADA) council members, consensus was achieved.
Results:
This guideline provides treatment guidance on advanced systemic treatment modalities for AD. In particular, the guideline offers up-to-date treatment recommendations for biologics and Janus-kinase inhibitors used in the treatment of patients with moderate to severe AD.It also provides guidance on other therapies for AD, along with tailored recommendations for children, adolescents, the elderly, and pregnant or breastfeeding women.
Conclusion
KADA’s updated AD treatment guidelines incorporate the latest evidence and expert opinion to provide a comprehensive approach to AD treatment. The guidelines will help clinicians optimize patient-specific therapies.
7.Consensus-Based Guidelines for the Treatment of Atopic Dermatitis in Korea (Part I): Basic Therapy, Topical Therapy, and Conventional Systemic Therapy
Hyun-Chang KO ; Yu Ri WOO ; Joo Yeon KO ; Hye One KIM ; Chan Ho NA ; Youin BAE ; Young-Joon SEO ; Min Kyung SHIN ; Jiyoung AHN ; Bark-Lynn LEW ; Dong Hun LEE ; Sang Eun LEE ; Sul Hee LEE ; Yang Won LEE ; Ji Hyun LEE ; Yong Hyun JANG ; Jiehyun JEON ; Sun Young CHOI ; Ju Hee HAN ; Tae Young HAN ; Sang Wook SON ; Sang Hyun CHO
Annals of Dermatology 2025;37(4):201-215
Background:
Atopic dermatitis (AD) is a common skin disease with a wide range of symptoms. Due to the rapidly changing treatment landscape, regular updates to clinical guidelines are needed.
Objective:
This study aimed to update the guidelines for the treatment of AD to reflect recent therapeutic advances and evidence-based practices.
Methods:
The Patient characteristics, type of Intervention, Control, and Outcome framework was used to determine 48 questions related to AD management. Evidence was graded, recommendations were determined, and, after 2 voting rounds among the Korean Atopic Dermatitis Association (KADA) council members, consensus was achieved.
Results:
The guidelines provide detailed recommendations on foundational therapies, including the use of moisturizers, cleansing and bathing practices, allergen avoidance, and patient education. Guidance on topical therapies, such as topical corticosteroids and calcineurin inhibitors, is also provided to help manage inflammation and maintain skin barrier function in patients with AD. Additionally, recommendations on conventional systemic therapies, including corticosteroids, cyclosporine, and methotrexate, are provided for managing moderate to severe AD.
Conclusion
KADA’s updated AD guidelines offer clinicians evidence-based strategies focused on basic therapies, topical therapies, and conventional systemic therapies, equipping them to enhance quality of care and improve patient outcomes in AD management.
8.Comparative Efficacy of Ustekinumab and Guselkumab in Improving Itch in Severe Psoriasis Patients
Ji Hoon RYOO ; Nam Gyoung HA ; Han Jin JUNG ; Dae-Lyong HA ; Jun Young KIM ; Weon Ju LEE ; Yong Hyun JANG
Annals of Dermatology 2025;37(3):146-151
Background:
Biologics effectively improve psoriatic skin lesions, but their impact on itch relief remains unclear.
Objective:
To evaluate itch improvement in severe psoriasis patients treated with ustekinumab or guselkumab.
Methods:
This retrospective study analyzed patients with severe psoriasis who completed initial efficacy evaluations after treatment with either biologic. Itch severity was assessed using numerical rating scale (NRS), visual analog scale, and verbal rating scale. NRS improvement was evaluated after three injections.
Results:
Among 108 patients (74 on ustekinumab, 34 on guselkumab), 77 (71.3%) had moderate-to-severe itch (NRS ≥4) at baseline. Of these, 63 (81.8%) achieved an NRS improvement of ≥4 points. Ustekinumab showed greater itch relief compared to guselkumab in NRS (p=0.033). On the other hand, guselkumab showed more reduction for psoriatic skin lesions than ustekinumab in the Psoriasis Area and Severity Index (p=0.040). In the moderate-to-severe itch group, patients with large plaques experienced significantly greater improvement in NRS than those with small plaques (p=0.012).
Conclusion
While guselkumab is generally preferred for psoriatic skin lesions, ustekinumab may provide superior itch relief.
9.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.
10.Clinical Efficacy of Rebamipide Eyedrops in Patients with Sjögren’s Syndrome Accompanied by Meibomian Gland Dysfunction
Hyo Ju JANG ; Ja Young MOON ; Hyeon Jeong YOON ; Kyung Chul YOON
Journal of the Korean Ophthalmological Society 2025;66(1):8-16
Purpose:
To investigate the clinical efficacy of rebamipide eyedrops in patients with meibomian gland dysfunction (MGD) associated with Sjögren’s syndrome.
Methods:
The study included 50 patients with Sjögren’s syndrome accompanied by MGD treated with 0.05% (w/v) cyclosporine and 0.15% (w/v) sodium hyaluronate eyedrops. They were divided into two groups: 25 who added rebamipide eyedrops to their existing treatments and a control group of 25 whose treatments did not change. We evaluated the tear breakup time, the Schirmer test and conjunctival staining scores, meibomian gland quality and function, and eyelid margin irregularity before prescribing rebamipide eyedrops and 1 and 3 months after prescription. Additionally, before eyedrops use and 3 months later, meibographic scores were assessed via imaging of the meibomian gland and ocular surface disease index values also were assessed.
Results:
The rebamipide group exhibited significant improvements in the tear breakup time, conjunctival staining score, and ocular surface disease index compared to before treatment (all p < 0.05). However, the Schirmer test result, meibomian gland quality and function, and eyelid margin irregularity did not differ between either groups before or after treatment. After 3 months of eyedrop use, the rebamipide group exhibited a significantly higher tear breakup time (p < 0.01) and Schirmer test score (p < 0.01) than the control group (p = 0.01), and significantly lower ocular surface disease index and conjunctival staining scores (p < 0.01).
Conclusions
Addition of rebamipide eyedrops to the conventional treatment of patients with Sjögren’s syndrome accompanied by MGD effectively improves dry eye symptoms and the ocular surface parameters.

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