1.Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease
Youn-Ji HONG ; Sungsoon HWANG ; Ja-Hyun JANG ; Jong-Won KIM ; Sang Jin KIM ; Mi-Ae JANG
Annals of Laboratory Medicine 2026;46(2):200-209
Background:
Retinitis pigmentosa (RP) comprises a heterogeneous group of inherited retinal dystrophies. The genetic landscape of RP has been characterized; however, knowledge gaps regarding age-specific genetic variation trends in Korean patients remain. We comprehensively characterized the age-stratified genetic landscape of RP in Korean patients, with a focus on identifying novel mutational trends and clinically actionable insights.
Methods:
We performed targeted next-generation sequencing of 199 genes associated with RP and related disorders in a cohort of 403 unrelated patients clinically diagnosed as having RP. We analyzed the inheritance patterns, variation spectrum, and prevalence of pathogenic variants, stratifying the results by age, and conducted copy number variation (CNV) analysis.
Results:
A genetic diagnosis was achieved for 193 of the 403 patients (48%). The diagnostic yield was highest in patients diagnosed before 20 yrs of age (60%), with lower yields in older age groups. Although USH2A and EYS, the most common causative genes in autosomal recessive inheritance, were frequently identified, RPGR pathogenic variants accounted for a significantly larger proportion of genetically solved cases diagnosed before the age of 20 yrs (27%–28%) than in those with later-onset disease (9%–15%). CNVs were identified in 4% of genetically solved cases.
Conclusions
The results underscore distinct, age-related genetic contributions to RP in Korean patients, with RPGR variants demonstrating relevance in early-onset disease, and provide diagnostic insights to improve current practices. These findings can aid in prioritizing gene therapy targets and refining screening strategies.
2.2025 Focused Update of the Seoul Consensus on Gastroesophageal Reflux Disease: Evidence-based Recommendations on Acid Suppressive Therapy
Cheal Wung HUH ; Jin Won CHANG ; Nak-Hoon SON ; Da Hyun JUNG ; Hye-Kyung JUNG ; Seung Joo KANG ; Seung Young KIM ; Miyoung CHOI ; Da Mi JEONG ; Hyun Jin KIM ; Moo In PARK ; In-Kyung SUNG ; Young Hoon YOUN ; Kwang Jae LEE ;
Journal of Neurogastroenterology and Motility 2026;32(1):7-18
Gastroesophageal reflux disease (GERD) is a chronic and relapsing gastrointestinal disorder characterized by the reflux of gastric contents into the esophagus, leading to troublesome symptoms and/or complications. Since the publication of the 2020 Seoul Consensus on GERD, significant new evidence has emerged, particularly regarding acid-suppressive therapies and diagnostic approaches. This 2025 focused update aims to refine GERD management strategies by incorporating the latest evidence on acid suppressive therapies and regional considerations in Asian populations. This study builds on the 2020 Seoul Consensus by integrating systematic reviews, meta-analyses, and expert consensuses to offer updated recommendations for the definition and medical treatment of GERD. These guidelines incorporate recent advances in acid-suppressive therapies, particularly potassium-competitive acid blockers, and adopt updated diagnostic frameworks in accordance with the Lyon Consensus 2.0. Key clinical questions were identified and structured using the following format: Population, Intervention, Comparator, Outcome. The resulting recommendations address the initial treatment, long-term maintenance strategies, and role of personalized therapy based on disease severity, such as the grade of reflux esophagitis. Six key statements are presented: updated definition and classification of GERD (Statement 1); initial and long-term treatment strategies tailored to GERD phenotypes, such as non-erosive reflux disease, mild erosive esophagitis, and severe erosive esophagitis (Statements 2-5); and dose optimization strategies for long-term safety (Statement 6). These guidelines aim to support gastroenterologists and general healthcare providers in making individualized evidence-based decisions for GERD management.
3.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.
4.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.
5.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.
6.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.
7.Electrical Stimulation Using a Low-Frequency and Low-Intensity Alternating Current Modulates Type I Procollagen Production and MMP-1Expression in Dermal Fibroblasts
Bo Mi KANG ; Jung Min AHN ; Jieun KIM ; Kyungho PAIK ; Bo Ri KIM ; Dong Hun LEE ; Sang Woong YOUN ; Keun-Yong EOM ; Chong Won CHOI
Annals of Dermatology 2025;37(3):152-161
Background:
Despite various therapeutic modalities for keloids have been introduced; however, their therapeutic effects are limited. Therefore, the development of a new approach for inhibiting collagen production by scar fibroblasts is needed.
Objective:
To investigate the effect of electrical stimulation using a low-frequency and low-intensity alternating current on collagen and MMP-1 levels in human dermal fibroblasts.
Methods:
Low-frequency (20 kHz) and low-intensity (1 V/cm) electrical stimulations were applied to primary dermal fibroblasts. The production of type I procollagen and expression of matrix metalloproteinase-1 were evaluated. Transcriptomic analyses were conducted to explore the possible modes of action of electrical stimulation.
Results:
Electrical stimulation effectively suppressed type I procollagen production and increased MMP-1 expression. In addition, transcriptomic analyses revealed that electrical stimulation altered the gene expression associated with membrane permeability and the structure of cellular membranes. Validation using real-time polymerase chain reaction revealed that electrical stimulation significantly altered the expression of mechanosensitive ion channels (PIEZO2) and membrane-bound protein organizing caveolae (CAVIN2).
Conclusion
Electrical stimulation using low-frequency and low-intensity alternating currents effectively modulates extracellular matrix homeostasis by altering the cellular membrane structure and function. Our findings suggest a promising therapeutic approach for the management of keloids and hypertrophic scars.
8.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.
9.STING-STAT6 Signaling PathwayPromotes IL-4+ and IFN-α+ FibroticT Cell Activation and Exacerbates Scleroderma in SKG Mice
Kun Hee LEE ; Jin Seok WOO ; Ha Yeon JEONG ; Jeong Won CHOI ; Chul Hwan BANG ; Jeehee YOUN ; Sung-Hwan PARK ; Mi-La CHO
Immune Network 2024;24(5):e37-
Systemic sclerosis (SS) is an autoimmune disease and pathological mechanisms of SS are unclear. In this study, we investigated the role of T cells in the progression of SS using SKG mice and humanized mice. SKG mice have a spontaneous point mutation in ZAP70. We induced scleroderma in SKG mice and a humanized SS mouse model to assess whether T cell-mediated immune responses induce SS. As a result, we found increased dermal thickness, fibrosis, and lymphocyte infiltration in skin tissue in SKG SS mice compared to BALB/c mice (control). Also, blood cytokine level, including IL-4- and IFN-α which are produced by CD4+ T cells via STIM1/STING/STAT6/IRF3 signaling pathways, were increased in SKG mice. Interestingly, skin fibrosis was reduced by inhibiting STING pathway in skin fibroblast.Next, we demonstrated the pathophysiological role of IL-4 and IFN-α in skin fibrosis using a humanized SS mouse model and found increased IL-4- and IFN-α-producing CD4+ T cells and fibrosis. In this study, we found that STING-induced production of IL-4- and type I IFN by CD4+ T cells is a key factor in mouse model and humanized mouse model of SS. Our findings suggest that the STING/STAT6/IRF3 signaling pathways are potential therapeutic targets in SS.
10.STING-STAT6 Signaling PathwayPromotes IL-4+ and IFN-α+ FibroticT Cell Activation and Exacerbates Scleroderma in SKG Mice
Kun Hee LEE ; Jin Seok WOO ; Ha Yeon JEONG ; Jeong Won CHOI ; Chul Hwan BANG ; Jeehee YOUN ; Sung-Hwan PARK ; Mi-La CHO
Immune Network 2024;24(5):e37-
Systemic sclerosis (SS) is an autoimmune disease and pathological mechanisms of SS are unclear. In this study, we investigated the role of T cells in the progression of SS using SKG mice and humanized mice. SKG mice have a spontaneous point mutation in ZAP70. We induced scleroderma in SKG mice and a humanized SS mouse model to assess whether T cell-mediated immune responses induce SS. As a result, we found increased dermal thickness, fibrosis, and lymphocyte infiltration in skin tissue in SKG SS mice compared to BALB/c mice (control). Also, blood cytokine level, including IL-4- and IFN-α which are produced by CD4+ T cells via STIM1/STING/STAT6/IRF3 signaling pathways, were increased in SKG mice. Interestingly, skin fibrosis was reduced by inhibiting STING pathway in skin fibroblast.Next, we demonstrated the pathophysiological role of IL-4 and IFN-α in skin fibrosis using a humanized SS mouse model and found increased IL-4- and IFN-α-producing CD4+ T cells and fibrosis. In this study, we found that STING-induced production of IL-4- and type I IFN by CD4+ T cells is a key factor in mouse model and humanized mouse model of SS. Our findings suggest that the STING/STAT6/IRF3 signaling pathways are potential therapeutic targets in SS.

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