1.High-Resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-Level Copy Number Variations Using Targeted and Non-targeted Approaches
Yeseul KIM ; Jee-Soo LEE ; Boram KIM ; Man Jin KIM ; Sung Im CHO ; Seung Won CHAE ; Ho Seob SHIN ; Hoyeon LEE ; Ji Yeon KIM ; Moon-Woo SEONG
Annals of Laboratory Medicine 2026;46(2):190-199
Background:
Copy number variations (CNVs) play an important role in human genetic disorders. Detection of exon-level CNVs is crucial for accurate clinical diagnosis. The CytoScan XON Array, a high-resolution microarray, was recently developed to detect exonic CNVs of various genes.
Methods:
We evaluated the clinical performance of the CytoScan XON Array using 59 patient samples with previously identified CNVs, confirmed via methods including multiple ligation-dependent probe amplification (MLPA), gene-dose PCR, and mRNA assay. Concordance between CytoScan XON and orthogonal methods was evaluated in target regions, and diagnostic utility was compared with that of genome sequencing (GS)-based CNV calling tools through analysis of false-positive CNVs in non-target genomic regions.
Results:
For target regions, the CytoScan XON Array achieved concordance rates of 89.8% and 92.5% at the exon and gene levels, respectively, for all CNV calls. Concordance was higher for multi-exon CNVs (100%) than that for single-exon CNVs (82.6%, P = 0.03). For non-target regions, false-positive CNV calls were reduced to fewer than 0.01 per gene per person through filtering strategies. The array exhibited false-positive detection rates within dosage-sensitive genes comparable with those of GS-based tools.
Conclusions
The CytoScan XON Array, a reliable tool for detecting exon-level CNVs in target regions, can serve as a complementary approach to GS-based CNV calling tools for genome-wide CNV screening with high resolution. However, its performance for single-exon CNVs requires further optimization. Cross-validation with GS-based CNV calling tools is recommended to improve diagnostic accuracy.
2.What Should Be Done Right Now for Better Health System in 10 Years?: Health System Reform Tasks
Juhwan OH ; Sang-il LEE ; Kunhee PARK ; Seung-Won OH ; Junghee AHN ; HaDa RYUOK ; Eun Jin HA ; Seung-yeon CHO ; Sung-ju KIM ; Eunyoung CHO ; Hee Gyung KANG ; Serng Bai PAK ; Eun Kyung EO
Korean Journal of Family Practice 2026;16(1):1-8
South Korea’s current healthcare system stands at a critical crossroads that will determine whether it can progress in a better direction over the next decade. Behind the relatively stable level of population health that has been maintained until now, it has become clear that the deterioration of patient experiences, the risk of collapse in critical emergency medical services, the burnout of healthcare providers, and the crisis in the sustainability of healthcare finances have all accumulated simultaneously. This crisis can no longer be overcome by partial fixes or short-term measures alone. The answer to what needs to change first must begin with a reaffirmation of what the healthcare system should aim for. Ultimately, what needs to be changed now is not an individual policy, but the criteria and priorities through which we view healthcare. The focus must shift from what to provide more of, to questioning what holds greater social value. If such a shift does not begin now, in ten years we won’t face a better healthcare system, but care enmeshed in a deeper crisis. Now is precisely the time to fundamentally define the direction of the healthcare system.
3.Improving prediction of ypT0–1N0 response in rectal cancer: the added value of gross tumor type to magnetic resonance tumor regression grade after chemoradiotherapy in a retrospective cohort study
Kyong-Min KANG ; Mi-Jeong CHOI ; Hong-min AHN ; Heung-Kwon OH ; Duck-Woo KIM ; Jungheum CHO ; Won CHANG ; Young Hoon KIM ; Kyoung Ho LEE ; Yu Kyung JUN ; Yonghoon CHOI ; Sung-Bum KANG
Annals of Surgical Treatment and Research 2026;110(4):237-245
Purpose:
While MRI-based tumor regression grade (mrTRG) has shown promise in evaluating pathologic response to concurrent chemoradiotherapy (CCRT) in rectal cancer, its ability to predict pathologic complete response remains limited.This study aimed to enhance mrTRG’s diagnostic performance in predicting ypT0–1N0 status, a key factor in considering non-radical management after CCRT for locally advanced rectal cancer (LARC).
Methods:
This retrospective study included 430 patients with LARC who underwent radical resection following CCRT at a single referral hospital between April 2018 and September 2024. Multivariable logistic regression was used to identify predictive factors associated with achieving ypT0–1N0 status. The diagnostic performances of mrTRG1–2 alone and in combination with other factors were assessed by comparing sensitivity, specificity, positive-predictive value (PPV), negative-predictive value, and area under the curve (AUC).
Results:
Ninety-three patients (21.6%) achieved ypT0–1N0. In the multivariable analysis, fungating type, cT1–2, and mrTRG1–2 were independent predictors for ypT0–1N0. Integrating mrTRG with gross tumor type yielded the highest AUC of 0.689 among the combined models. For predicting ypT0–1N0, the combination of mrTRG and gross tumor type improved PPV (79.2% vs. 41.5% for mrTRG alone) while also demonstrating enhanced sensitivity compared with ycT0–1N0, the conventional MRI-based predictor (40.9% vs. 22.6%).
Conclusion
This study demonstrated that combining mrTRG and gross tumor type improved the PPV of mrTRG in predicting ypT0–1N0 after CCRT in LARC. Further studies are warranted to validate the role of gross tumor type in refining predictive systems for selecting candidates for non-radical treatment.
4.Detection Ability of Quality of Life Changes and Responsiveness of the KOQUSS-40 and the EORTC QLQ-C30/STO22 in Patients Who Underwent Gastrectomy: A Prospective Comparative Study
Bang Wool EOM ; Keun Won RYU ; Ji Yeong AN ; Yun-Suhk SUH ; In CHO ; Sung Geun KIM ; Ji-Ho PARK ; Hoon HUR ; Hyung-Ho KIM ; Sang-Hoon AHN ; Sun-Hwi HWANG ; Hong Man YOON ; Ki Bum PARK ; Hyoung-Il KIM ; In-Gyu KWON ; Han-Kwang YANG ; Byoung-Jo SUH ; Sang-Ho JEONG ; Tae-Han KIM ; Oh Kyoung KWON ; Hye-Seong AHN ; Ji Yeon PARK ; Ki Young YOON ; Myoung Won SON ; Seong-Ho KONG ; Young-Gil SON ; Geum Jong SONG ; Jong Hyuk YUN ; Jung-Min BAE ; Do Joong PARK ; Sol LEE ; Jun-Young YANG ; Kyung Won SEO ; You-Jin JANG ; So Hyun KANG ; Joongyub LEE ; Hyuk-Joon LEE ;
Cancer Research and Treatment 2026;58(1):221-231
Purpose:
The aim of this study is to compare the detection ability of quality of life (QoL) changes and responsiveness of the KOrean QUality of life in Stomach cancer patients Study group (KOQUSS)-40 and European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC QLQ).
Materials and Methods:
A multicenter prospective observational study was conducted to evaluate QoL changes after various gastrectomies between January 2021 and April 2022. Participants were instructed to complete the KOQUSS-40 and EORTC QLQ-C30/STO22 preoperatively and at 1, 3, 6, and 12 months postoperatively. QoL changes over time and QoL responsiveness were assessed for each questionnaire.
Results:
Data from 491 patients who underwent curative gastrectomy for gastric cancer at 22 institutions were analyzed. The summary scores of the KOQUSS-40 and EORTC QLQ-STO22 showed significant differences between the total and proximal gastrectomy groups (p=0.044 and p=0.038, respectively), but no difference was observed for the EORTC QLQ-C30. Dysphagia on the KOQUSS-40 was significantly different between the total and proximal gastrectomy groups (p=0.031); however, dysphagia on the EORTC QLQ-STO22 did not differ. The responsiveness of the KOQUSS-40 was similar to that of the EORTC QLQ in patients who experienced ≥ 10% body weight loss, but approximately 10% less in patients receiving adjuvant chemotherapy than the EORTC QLQ.
Conclusion
KOQUSS-40 has several advantages over EORTC QLQ-C30/STO22 when comparing QoL between the total and proximal gastrectomy groups. The findings provide information for researchers investigating the QoL of patients who have undergone curative gastrectomy for gastric cancer.
5.Clinical Guideline for the Use of Biodegradable Rectal Spacers During Radiotherapy for Prostate Cancer
Hyun Ho HAN ; Jong Kyou KWON ; Do Kyung KIM ; Jin Hyung JEON ; Chan Woo WEE ; Jae Ho CHO ; Ji Hee JUNG ; A Young YOO ; Jae Young JOUNG ; Gee Hyun SONG ; Seung Ju LEE ; Won PARK ; Chan Kyo KIM ; Young Seok KIM ; Yeon Joo KIM ; Ah Ram CHANG ; Jae Sik KIM ; Sung Hwan BAE ; Byoung Kyu HAN ; Kang Su CHO
Journal of Urologic Oncology 2026;24(1):3-12
Purpose:
Radiotherapy (RT) remains a cornerstone of curative treatment for localized and locally advanced prostate cancer. However, dose escalation to improve tumor control is often constrained by the proximity of the rectum, which increases the risk of gastrointestinal (GI) and genitourinary toxicities. Biodegradable rectal spacers inserted between the prostate and rectum have emerged as an effective approach to reduce rectal radiation exposure. This guideline provides evidence-based recommendations on indications, contraindications, procedural standards, and clinical management for biodegradable rectal spacer insertion during prostate cancer RT.
Materials and Methods:
This guideline was developed by a multidisciplinary expert panel through a systematic review of the literature, analysis of international guidelines (National Comprehensive Cancer Network, European Association of Urology, American Society for Radiation Oncology), and expert consensus among radiation oncologists, radiologists, and urologists with clinical experience in spacer insertion. The strength of each recommendation and the level of evidence were classified according to the modified GRADE (Grading of Recommendations, Assessment, Development, and Evaluation) system.
Results:
Spacer insertion is conditionally recommended (Grade C, Level I) for patients receiving definitive external-beam RT without rectal invasion. It reduces the high-dose rectal irradiation volume (V70–75) by >50%, decreases acute GI toxicity, and helps maintain bowel-related quality of life. However, the benefit for late severe toxicity (grade 2 or higher) remains debated in recent meta-analyses. Contraindications include rectal invasion, anatomical inaccessibility, infection, and material hypersensitivity. Procedures should be performed under local anesthesia in a sterile environment by trained physicians. Short-course antibiotics and simulator-based training, including completion of multiple supervised cases, are advised.
Conclusion
Biodegradable rectal spacer insertion is clinically validated and effective in reducing acute rectal toxicity. Although pivotal trials demonstrated a favorable procedural safety profile, real-world postmarket data include reports of rare but severe procedural complications. This guideline provides standardized recommendations tailored to Korean clinical practice while remaining consistent with international standards, emphasizing the importance of operator training and careful patient selection.
6.Longitudinal analysis of serotypes, virulence factors, and MLST profiles of Pasteurella multocida from porcine pneumonia in South Korea (2016–2023)
Sung-Hyun MOON ; Da-Yun BAE ; Taeyeon KIM ; Won-Il KIM ; Yeonsu OH ; Ho-Seong CHO
Journal of Veterinary Science 2026;27(1):e9-
Objective:
This study performed a longitudinal molecular characterization of P. multocidaisolates from pigs with respiratory lesions in South Korea (2016–2023), including subspecies identification, capsular serogrouping, virulence gene profiling, and multilocus sequence typing (MLST).
Methods:
A total of 1,358 pneumonic lung samples were collected from 960 pig farms between 2016 and 2023, yielding 169 P. multocida isolates. Subspecies were assigned by 16S rRNA gene sequencing. Capsular serogroups were determined using multiplex Virulence genes (pfhA, hgbB, tbpA, and toxA) were detected by PCR assays. MLST was conducted using the RIRDC scheme, and phylogenetic analysis of concatenated loci assessed clonal relationships.
Results:
Serogroup A predominated (109/169, 64.5%), followed by D (47/169, 27.8%) and B (3/169, 1.8%). Serogroups F and A/D were each detected once (0.6%), and 8 isolates were untypable (4.7%). Co-detection of hgbB and pfhA occurred in multiple isolates. Notably, two serogroup B isolates carried both genes, representing the first such finding in Korea and suggesting enhanced virulence potential. MLST identified 5 clonal complexes and 15 sequence types, including ST9 linked to serogroup B.
Conclusions
and Relevance: The emergence of serogroup B/ST9 isolates co-harboring hgbB and pfhA highlights evolving virulence patterns in Korean swine and supports continued molecular and genomic surveillance to guide control strategies and reduce health risks.
7.Actinobacillus pleuropneumoniaein Korea (2015-2025): serovar distribution, toxin gene profiles, antimicrobial resistance, and identification of an apxIICA-deficient serovar 15 profile
Da-Yun BAE ; Eun Ju KANG ; Yun-Chae CHO ; Yujoon LIM ; Sung-Hyun MOON ; Won-Il KIM ; Yeonsu OH ; Ho-Seong CHO
Journal of Veterinary Science 2026;27(3):e39-
Objective:
To provide a decade-long molecular and phenotypic characterization of APP isolates from Korean pig farms, focusing on the serovar distribution, apx-based toxingene profiles, and antimicrobial susceptibility.
Methods:
Between 2015 and 2025, 1,215 pneumonic lung samples from 965 pig farms yielded 132 APP isolates. The species identity was confirmed by 16S rRNA sequencing. The serovars were determined using capsule polysaccharide (CPS) gene-based multiplex polymerase chain reaction (PCR). Toxin genes (apxIA–apxIVA) were profiled, and the antimicrobial susceptibility to 29 agents was assessed by broth microdilution according to the Clinical and Laboratory Standards Institute guidelines.
Results:
Serovar 1 was predominant (66.7%), followed by serovars 5 (17.4%) and 2 (6.8%).CPS multiplex PCR identified three isolates (2.3%) as serovar 15, which displayed heterogeneous toxin gene profiles, including apxIICA-deficient profiles. Most isolates exhibited classical repeats-in-toxin operon arrangements, suggesting ongoing diversification of toxin gene profiles. High resistance rates were observed for oxytetracycline (90.9%) and florfenicol (50.8%), and recurrent multidrug-resistant combinations were frequently detected.
Conclusions
and Relevance: Serovar 1 is dominant in Korea, but the emergence of atypical toxin gene profiles in serovar 15 may carry immunological implications. Persistent resistance to older drug classes underscores the necessity for long-term molecular surveillance, evaluation of vaccine coverage against evolving strains, and enhanced antimicrobial stewardship to strengthen the control efforts for porcine pleuropneumonia in Korea.
8.Associated factors of osteoporosis and the impact of osteoporosis on all-cause mortality in incident hemodialysis older patients
Seunghye LEE ; Yoomee KANG ; Yu Ah HONG ; Sung Joon SHIN ; Soon Hyo KWON ; Sungjin CHUNG ; Young Youl HYUN ; Sang Heon SONG ; Jae Won YANG ; Won Min HWANG ; Jang-Hee CHO ; Kyung Don YOO ; In O SUN ; Gang-Jee KO ; Byung Chul YU ; Hyunsuk KIM ; Woo Yeong PARK ; Tae Won LEE ; Dong Jun PARK ; Eunjin BAE ;
Kidney Research and Clinical Practice 2026;45(1):110-119
Background:
With the aging population and advancements in medical care worldwide, the number of older patients with end-stage kidney disease continues to rise. This study aimed to identify factors associated with osteoporosis and osteopenia in older patients undergoing incident hemodialysis and assess their impact on mortality.
Methods:
We analyzed a large multicenter retrospective cohort of patients aged ≥70 years undergoing incident hemodialysis to identify factors associated with osteoporosis using logistic regression analysis and to assess the association of death with osteoporosis and osteopenia using Cox multivariable analysis.
Results:
Among 710 patients, 39.0% and 19.6% had osteoporosis and osteopenia, respectively. Osteoporosis was significantly associated with female sex, a history of fractures, and the absence of phosphate binder use. During a median follow-up of 36.8 months, 348 participants (58.8%) died. Mortality rates were the highest in the osteoporosis group (79.8%), followed by the osteopenia (77.2%) and normal bone mineral density (BMD) groups (35.2%). Cox regression analysis revealed that even after adjusting for covariates, the osteoporosis group was significantly associated with a higher mortality risk than the normal BMD group. Osteoporosis at the start of hemodialysis was significantly associated with higher mortality.
Conclusion
We should consider the importance of bone health in patients undergoing incident hemodialysis and pay attention to the use of phosphate binders and fracture prevention.
9.Impact of obesity on renal function in elderly Korean adults: a national population-based cohort study
Jihyun YANG ; Hui Seung LEE ; Chi-Yeon LIM ; Hyunsuk KIM ; Sungjin CHUNG ; Soon Hyo KWON ; Jang-Hee CHO ; Kyung Don YOO ; Woo Yeong PARK ; In O SUN ; Byung Chul YU ; Gang-Jee KO ; Jae Won YANG ; Won Min HWANG ; Sang Heon SONG ; Sung Joon SHIN ; Yu Ah HONG ; Eunjin BAE ; Young Youl HYUN
Kidney Research and Clinical Practice 2026;45(1):65-76
Background:
Obesity is a well-known risk factor for chronic kidney disease and its progression. However, the impact of obesity on the renal function of the elderly population is uncertain. We investigated the association between obesity and renal outcomes in the elderly.
Methods:
We analyzed 130,504 participants from the Korean National Health Insurance Service-Senior cohort. Obesity was classified according to body mass index (BMI), sex-specific waist circumference (WC), and the presence of metabolic syndrome. The primary outcome was renal function decline, defined as a decline in the estimated glomerular filtration rate (eGFR) of at least 50% from baseline or new-onset end-stage renal disease.
Results:
During a follow-up period of 559,531.1 person-years (median, 4.3 years), 2,486 participants (19.0%; incidence rate of 4.44 per 1,000 person-years) showed renal function decline. A multivariate Cox proportional hazards model revealed that BMI/WC was not associated with renal function decline. However, the group with metabolic syndrome had a significantly increased risk of renal function decline compared to the group without metabolic syndrome (adjusted hazard ratio [HR], 1.24; 95% confidence interval [CI], 1.13–1.36). Compared with the non-metabolic syndrome group, the adjusted HRs (95% CI) for participants with one through five components were 0.96 (0.84–1.11), 1.10 (0.96–1.27), 1.24 (1.06–1.45), 1.37 (1.12–1.66), and 1.99 (1.42–2.79), respectively (p for trend < 0.001).
Conclusion
In elderly Korean adults, metabolic syndrome and the number of its components were associated with a higher risk of renal function decline, but BMI or WC was not significant.
10.Association of Sleep Patterns with the Development of Idiopathic Scoliosis:A Nationwide Pediatric Cohort Study
Weonmin CHO ; Soo-Bin LEE ; Sahyun SUNG ; Ji-Won KWON ; Seong-Hwan MOON ; Kyung-Soo SUK ; Hak-Sun KIM ; Si-Young PARK ; Byung Ho LEE
Clinics in Orthopedic Surgery 2026;18(1):78-86
Background:
The etiology of adolescent idiopathic scoliosis is multifactorial, and the influence of lifestyle factors such as sleep is not clearly understood. Differences in scoliosis incidence between urban and rural areas have been reported, but the contributing factors remain unclear. Therefore, this study investigated the association between sleep patterns and the incidence of idiopathic scoliosis and explored whether these patterns contribute to the observed urban-rural disparity.
Methods:
This retrospective study utilized data from the Korea Children and Youth Panel Survey (2010–2016) and the Health Insurance Review and Assessment Service for 4,693 students (age, 7–18 years). Various lifestyle factors including sleep patterns, learning time, and activity times, were compared between urban and rural areas, and a correlation analysis was performed between these factors and the age-specific incidence of idiopathic scoliosis.
Results:
Urban students, who exhibited higher idiopathic scoliosis incidence rates, tended to have later bedtimes and shorter total sleep durations than rural students. Longer learning hours were also observed in urban areas. Significant correlations were found between idiopathic scoliosis incidence and bedtime (p = 0.031), total sleep time (p = 0.026), and changes in total sleep time (p = 0.011).
Conclusions
Our findings indicate that later bedtimes and shorter sleep durations may contribute to idiopathic scoliosis development in children and adolescents. The higher idiopathic scoliosis incidence in urban students than in rural students could be partially explained by these sleep pattern differences, highlighting the need for further research into the role of sleep in scoliosis onset and prevention.

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