1.Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach
Kyung Sun PARK ; Sunghwan SHIN ; Jong-Ho PARK ; Young-Eun KIM ; Won Kyung KWON ; Min-Kyung SO ; Changhee HA ; Ja-Hyun JANG ; Taeheon LEE ; Chang-Seok KI ; Yoonjung KIM ; Kyung-A LEE ; Inho PARK ; Sejoon LEE ; Hong-Hee WON ; ; Jong-Won KIM
Annals of Laboratory Medicine 2026;46(1):94-103
Background:
As nationwide government-led whole-genome sequencing (WGS) projects progress, optimizing the clinical integration of large-scale WGS results is crucial. We explored how the initial analysis from Korea’s First WGS Pilot Study for Rare Diseases was applied in clinical practice, and then we reanalyzed the data comprehensively at Samsung Medical Center (SMC) Seoul, Korea.
Methods:
A prospective cohort study designed to collect WGS data under a Korean national initiative was conducted from August 2020 to December 2021. We focused on patients with rare diseases recruited from 16 university hospitals. The participants included 5,000 individuals (2,200 probands and 2,800 family members). The initial WGS data and diagnostic reference reports (from 682 probands and 484 family members), generated based on the First Korean WGS Pilot Study for Rare Diseases, were subsequently reanalyzed by SMC.
Results:
The initial analysis of the First Korean WGS Pilot Study data revealed a diagnostic rate of 17%. Upon receiving these results, the SMC conducted two rounds of reanalysis, increasing the diagnostic rate from 15% in the first analysis, to 18% in the second, and finally to 24% in the third (P = 1.6 × 10 −5 ). Key factors in improving the genetic diagnosis included increased detection of novel (likely) pathogenic variants (P = 1.0 × 10 −4 ), improved diagnostic rates with larger family recruitment (P = 0.004), and refined clinical information for more precise genotype–phenotype correlation analysis (40%).
Conclusions
Although national WGS projects lay a foundation for rare disease diagnosis, hospital-level reanalysis and multidisciplinary collaborations are crucial for optimizing diagnostic outcomes.
2.Postoperative Readmission Is Associated With Worse Oncologic Outcomes After Radical Cystectomy for Bladder Cancer: A Multicenter Study of 3,972 Patients
Jungwon PARK ; Jong Ho PARK ; Sangchul LEE ; Seung-Hwan JEONG ; Ja Hyeon KU ; Kyung Hwan KIM ; Jong Kil NAM ; Bumjin LIM ; BumSik HONG ; Wook NAM ; Sung Gu KANG ; Seok Ho KANG ; Tae Gyun KWON ; Tae-Hwan KIM ; Jieun HEO ; Won Sik HAM ; Geehyun SONG ; Ho Kyung SEO ; Wan SONG ; Hyun Hwan SUNG ; Byong Chang JEONG ; Jong Jin OH
Journal of Urologic Oncology 2026;24(1):69-78
Purpose:
Radical cystectomy (RC) is associated with substantial postoperative morbidity, and unplanned readmission remains common despite advances in perioperative management. However, the association between postoperative readmission due to complications and oncologic outcomes after RC for bladder cancer has not been clearly defined. We evaluated the impact of postoperative readmission on overall survival (OS) and cancer-specific survival (CSS) after RC for bladder cancer.
Materials and Methods:
We retrospectively analyzed 3,972 patients who underwent RC for bladder cancer in a multicenter cohort. Postoperative readmission was defined as unplanned hospitalization within 90 days postsurgery due to surgery-related complications. Survival outcomes were assessed using the Kaplan-Meier method and compared using the log-rank test. Univariable and multivariable Cox proportional hazards regression analyses were performed to identify independent predictors of OS and CSS.
Results:
Among the study population, 916 patients (23.1%) experienced postoperative readmission. Baseline and perioperative characteristics were generally comparable between patients with and without readmission. Kaplan-Meier analyses demonstrated significantly worse OS and CSS among patients who experienced postoperative readmission (both log-rank p<0.001). In multivariable analyses adjusting for clinicopathological factors, postoperative readmission remained independently associated with worse OS (hazard ratio [HR], 1.654; 95% confidence interval [CI], 1.464–1.868; p<0.001) and CSS (HR, 1.761; 95% CI, 1.509–2.055; p<0.001).
Conclusion
Postoperative readmission within 90 days after RC was independently associated with inferior long-term oncologic outcomes. These findings suggest the importance of strategies aimed at preventing postoperative complications and subsequent readmission.
3.Influence of Incidental Pulmonary Nodules on Surgical Decision-Making in Thyroid Cancer: a Nationwide Survey
Ja Kyung LEE ; Sukmin YUN ; Eunji KIM ; Yoon KONG ; Hyeong Won YU ; Min Joo KIM ; Jae Hoon MOON ; June Young CHOI
International Journal of Thyroidology 2026;19(1):68-77
Background and Objectives:
The clinical significance of incidental pulmonary nodules detected during thyroid cancer evaluation remains unclear. This study aimed to investigate how such findings affect surgical decisionmaking and whether management differs by physician characteristics.
Materials and Methods:
A web-based survey was distributed to 722 active members of the Korean Thyroid Association in March 2025. Eligible participants included board-certified endocrinologists, endocrine surgeons, and otolaryngologists actively treating thyroid cancer. The questionnaire included clinical scenarios featuring incidental lung nodules found during thyroid cancer work-up, with respondents asked to choose preferred surgical extent (thyroid lobectomy vs. total thyroidectomy) and management approaches.
Results:
Out of 72 physicians who completed the survey, half (n=36, 50.0%) of the respondents answered that the presence of incidental lung nodules could influence their decision on thyroidectomy extent. Among those influenced by lung nodules, 86.1% recommended total thyroidectomy in patients with high- or intermediate-risk thyroid cancer, while 11.1% would do so for all thyroid cancer patients.Endocrinologists, compared to surgeons, were more likely to choose total thyroidectomy in patients with preoperative incidental lung nodules (78.3% vs. 36.7%, p=0.001).
Conclusion
Incidental lung nodules may influence surgical planning in clinicians due to the risk of micrometastasis from thyroid cancer. Endocrinologists tend to favor a more extensive surgical approach compared to surgeons, reflecting greater concern for potential metastatic disease. These findings underscore the need for multidisciplinary consensus guidelines for the management of incidental pulmonary nodules in thyroid cancer patients.
5.Sex-Specific Reference Intervals and AgeRelated Variations in Hematologic Parameters in Korean Adults Measured Using the Beckman Coulter DxH 900 Analyzer
Shinae YU ; Eunkyoung YOU ; Sae Am SONG ; Jeong Nyeo LEE ; Kyung Ran JUN ; Ja Young LEE
Journal of Laboratory Medicine and Quality Assurance 2025;47(1):6-13
Background:
This study established sex-specific reference intervals (RIs) for hematological parameters, including the monocyte distribution width (MDW), in Korean adults and assessed the need for separate RIs according to sex in older adults.
Methods:
Hematological parameters were measured using a DxH 900 hematology analyzer (Beckman Coulter, USA) on 328 peripheral blood samples from 124 men and 204 women aged 19–93 years.
Results:
The RIs for white blood cells, red blood cells (RBCs), Hb, Hct, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration, monocyte percentage, and neutrophil, eosinophil, lymphocyte, and monocyte counts differed significantly by sex (P<0.05). Mean corpuscular volume was significantly positively associated with age, whereas RBC and platelet counts were significantly negatively correlated with age in both men and women. Age-based analysis revealed significant shifts in the RBC parameters beginning at 60 years of age in men and 70 years of age in women. The MDW did not show significant differences according to sex or age.
Conclusions
This study supports the use of sex-specific RIs and highlights the importance of considering age when interpreting results regarding hematological parameters in clinical practice.
6.Sex-Specific Reference Intervals and AgeRelated Variations in Hematologic Parameters in Korean Adults Measured Using the Beckman Coulter DxH 900 Analyzer
Shinae YU ; Eunkyoung YOU ; Sae Am SONG ; Jeong Nyeo LEE ; Kyung Ran JUN ; Ja Young LEE
Journal of Laboratory Medicine and Quality Assurance 2025;47(1):6-13
Background:
This study established sex-specific reference intervals (RIs) for hematological parameters, including the monocyte distribution width (MDW), in Korean adults and assessed the need for separate RIs according to sex in older adults.
Methods:
Hematological parameters were measured using a DxH 900 hematology analyzer (Beckman Coulter, USA) on 328 peripheral blood samples from 124 men and 204 women aged 19–93 years.
Results:
The RIs for white blood cells, red blood cells (RBCs), Hb, Hct, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration, monocyte percentage, and neutrophil, eosinophil, lymphocyte, and monocyte counts differed significantly by sex (P<0.05). Mean corpuscular volume was significantly positively associated with age, whereas RBC and platelet counts were significantly negatively correlated with age in both men and women. Age-based analysis revealed significant shifts in the RBC parameters beginning at 60 years of age in men and 70 years of age in women. The MDW did not show significant differences according to sex or age.
Conclusions
This study supports the use of sex-specific RIs and highlights the importance of considering age when interpreting results regarding hematological parameters in clinical practice.
7.A practical guide for enteral nutrition from the Korean Society for Parenteral and Enteral Nutrition: Part I. prescribing enteral nutrition orders
Ye Rim CHANG ; Bo-Eun KIM ; In Seok LEE ; Youn Soo CHO ; Sung-Sik HAN ; Eunjung KIM ; Hyunjung KIM ; Jae Hak KIM ; Jeong Wook KIM ; Sung Shin KIM ; Eunhee KONG ; Ja Kyung MIN ; Chi-Min PARK ; Jeongyun PARK ; Seungwan RYU ; Kyung Won SEO ; Jung Mi SONG ; Minji SEOK ; Eun-Mi SEOL ; Jinhee YOON ; Jeong Meen SEO ;
Annals of Clinical Nutrition and Metabolism 2025;17(1):3-8
Purpose:
This study aimed to develop a comprehensive practical guide for enteral nutrition (EN) designed to enhance patient safety and reduce complications in Korea. Under the leadership of the Korean Society for Parenteral and Enteral Nutrition (KSPEN), the initiative sought to standardize EN procedures, improve decision-making, and promote effective multidisciplinary communication.
Methods:
The KSPEN EN committee identified key questions related to EN practices and organized them into seven sections such as prescribing, delivery route selection, formula preparation, administration, and quality management. Twenty-one experts, selected based on their expertise, conducted a thorough literature review to formulate evidence-based recommendations. Drafts underwent peer review both within and across disciplines, with final revisions completed by the KSPEN Guideline Committee. The guide, which will be published in three installments, addresses critical elements of EN therapy and safety protocols.
Results:
The practical guide recommends that EN orders include detailed elements and advocates the use of electronic medical records for communication. Standardized prescription forms and supplementary safety measures are outlined. Review frequency is adjusted according to patient condition—daily for critically ill or unstable patients and as dictated by institutional protocols for stable patients. Evidence indicates that adherence to these protocols reduces mortality, complications, and prescription errors.
Conclusion
The KSPEN practical guide offers a robust framework for the safe delivery of EN tailored to Korea’s healthcare context. It emphasizes standardized protocols and interdisciplinary collaboration to improve nutritional outcomes, patient safety, and operational efficiency. Rigorous implementation and monitoring of adherence are critical for its success.
8.Clinical outcomes and optimal indications for nonoperative management of acute appendicitis in adult patients: a comprehensive literature review
Annals of Coloproctology 2025;41(2):107-118
Appendectomy as the standard treatment for acute appendicitis has been challenged by accumulating evidence supporting nonoperative management with antibiotics as a potential primary treatment. This review aimed to summarize the clinical outcomes and the optimal indications for nonoperative management of acute appendicitis in adults. Current evidence suggests that uncomplicated and complicated appendicitis have different pathophysiologies and should be treated differently. Nonoperative management for uncomplicated appendicitis was not inferior to appendectomy in terms of complications and length of stay, with less than a 30% failure rate at 1 year. The risk of perforation and postoperative complications did not increase even if nonoperative management failed. Complicated appendicitis with localized abscess or phlegmon could also be treated conservatively, with a success rate of more than 80%. An interval appendectomy following successful nonoperative management is recommended only for patients over the age of 40 years to exclude appendiceal malignancy. The presence of appendicoliths increased the risk of treatment failure and complications; thus, it may be an indication for appendectomy. Nonoperative management is a safe and feasible option for both uncomplicated and complicated appendicitis. Patients should be informed that nonoperative management may be a safe alternative to surgery, with the possibility of treatment failure.
9.A practical guide for enteral nutrition from the Korean Society for Parenteral and Enteral Nutrition: Part I. prescribing enteral nutrition orders
Ye Rim CHANG ; Bo-Eun KIM ; In Seok LEE ; Youn Soo CHO ; Sung-Sik HAN ; Eunjung KIM ; Hyunjung KIM ; Jae Hak KIM ; Jeong Wook KIM ; Sung Shin KIM ; Eunhee KONG ; Ja Kyung MIN ; Chi-Min PARK ; Jeongyun PARK ; Seungwan RYU ; Kyung Won SEO ; Jung Mi SONG ; Minji SEOK ; Eun-Mi SEOL ; Jinhee YOON ; Jeong Meen SEO ;
Annals of Clinical Nutrition and Metabolism 2025;17(1):3-8
Purpose:
This study aimed to develop a comprehensive practical guide for enteral nutrition (EN) designed to enhance patient safety and reduce complications in Korea. Under the leadership of the Korean Society for Parenteral and Enteral Nutrition (KSPEN), the initiative sought to standardize EN procedures, improve decision-making, and promote effective multidisciplinary communication.
Methods:
The KSPEN EN committee identified key questions related to EN practices and organized them into seven sections such as prescribing, delivery route selection, formula preparation, administration, and quality management. Twenty-one experts, selected based on their expertise, conducted a thorough literature review to formulate evidence-based recommendations. Drafts underwent peer review both within and across disciplines, with final revisions completed by the KSPEN Guideline Committee. The guide, which will be published in three installments, addresses critical elements of EN therapy and safety protocols.
Results:
The practical guide recommends that EN orders include detailed elements and advocates the use of electronic medical records for communication. Standardized prescription forms and supplementary safety measures are outlined. Review frequency is adjusted according to patient condition—daily for critically ill or unstable patients and as dictated by institutional protocols for stable patients. Evidence indicates that adherence to these protocols reduces mortality, complications, and prescription errors.
Conclusion
The KSPEN practical guide offers a robust framework for the safe delivery of EN tailored to Korea’s healthcare context. It emphasizes standardized protocols and interdisciplinary collaboration to improve nutritional outcomes, patient safety, and operational efficiency. Rigorous implementation and monitoring of adherence are critical for its success.
10.Clinical outcomes and optimal indications for nonoperative management of acute appendicitis in adult patients: a comprehensive literature review
Annals of Coloproctology 2025;41(2):107-118
Appendectomy as the standard treatment for acute appendicitis has been challenged by accumulating evidence supporting nonoperative management with antibiotics as a potential primary treatment. This review aimed to summarize the clinical outcomes and the optimal indications for nonoperative management of acute appendicitis in adults. Current evidence suggests that uncomplicated and complicated appendicitis have different pathophysiologies and should be treated differently. Nonoperative management for uncomplicated appendicitis was not inferior to appendectomy in terms of complications and length of stay, with less than a 30% failure rate at 1 year. The risk of perforation and postoperative complications did not increase even if nonoperative management failed. Complicated appendicitis with localized abscess or phlegmon could also be treated conservatively, with a success rate of more than 80%. An interval appendectomy following successful nonoperative management is recommended only for patients over the age of 40 years to exclude appendiceal malignancy. The presence of appendicoliths increased the risk of treatment failure and complications; thus, it may be an indication for appendectomy. Nonoperative management is a safe and feasible option for both uncomplicated and complicated appendicitis. Patients should be informed that nonoperative management may be a safe alternative to surgery, with the possibility of treatment failure.

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