Background: MUTYH-associated polyposis is an autosomal recessive disorder associated with an increased lifetime risk of colorectal cancer and a moderately increased risk of ovarian, bladder, breast, and endometrial cancers. We analyzed the carrier frequency and estimated the incidence of MUTYH-associated polyposis in East Asian and Korean populations, for which limited data were previously available. Methods: We examined 125,748 exomes from the gnomAD database, including 9,197 East Asians, and additional data from 5,305 individuals in the Korean Variant Archive and 1,722 in the Korean Reference Genome Database. All MUTYH variants were interpreted according to the American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines and the Sequence Variant Interpretation guidelines from ClinGen. Results: The global carrier frequency of MUTYH-associated polyposis was 1.29%, with Europeans (non-Finnish) having the highest frequency of 1.86% and Ashkenazi Jews the lowest at 0.06%. East Asians and Koreans had a carrier frequency of 0.35% and 0.37% and an estimated incidence of 1 in 330,409 and 1 in 293,304 in Koreans, respectively, which were substantially lower than the global average of 1 in 24,160 and the European (nonFinnish) incidence of 1 in 11,520. Conclusions This was the first study to investigate the frequency of carriers of MUTYH-associated polyposis in East Asians, including specific subgroups, utilizing gnomAD and a Korean genome database. Our data provide valuable reference information for future investigations of MUTYH-associated polyposis to understand the genetic diversity and specific variants associated with this condition in East Asian populations.

Background: Citrin deficiency is an autosomal recessive disorder caused by pathogenic variants in SLC25A13, presenting with various age-dependent clinical phenotypes and a broad spectrum of severity. However, few studies have examined the frequency and prevalence of citrin deficiency. We aimed to analyze the carrier frequency and disease prevalence in East Asian populations and Koreans. Methods: We comprehensively reviewed the literature and conducted a cross-sectional study to analyze genomic databases, including the Genome Aggregation Database (gnomAD), Korean Variant Archive (KOVA), and Tohoku Medical Megabank Organization (ToMMo), to identify pathogenic SLC25A13 variants in East Asian populations. A founder 3-kilobase (kb) insertion in intron 16 of SLC25A13 was investigated using whole-genome sequencing data from 681 Koreans with the Linux grep command. Results: Twenty-three pathogenic SLC25A13 variants were identified, with c.852_855del being the most common. Analysis of data from 17,501 East Asian individuals in the gnomAD and ToMMo databases revealed a carrier frequency of 1 in 62 people. Analysis of data from 7,214 individuals in the gnomAD and KOVA databases revealed a carrier frequency of 1 in 86, corresponding to an estimated disease prevalence of 1 in 29,502.c.1177+1G > A was identified as the most prevalent pathogenic variant in Koreans. The 3 kb insertion in intron 16 was detected in three out of 681 individuals, indicating a carrier frequency of 1 in 228. Conclusions The high carrier frequency of citrin deficiency in East Asians highlights the need for enhanced genetic screening and counseling, particularly in Korea, providing a valuable reference for future studies on genetic diversity and pathogenic variants in this population.

Background: There are few safe effective ways to relieve osteoarthritis (OA) pain; as a result, off-label psychotropic drug prescriptions have increased worldwide. This study examined the change in psychotropic drug prescriptions for patients with OA from 2011 to 2020 using the Korean National Health Insurance Service dataset. Methods: The study population consisted of patients with hip or knee OA aged ≥ 65 years.Psychotropic drugs included opioids, benzodiazepines, non-benzodiazepine hypnotics (Z-drugs), anti-epileptics, tricyclic antidepressants, selective serotonin reuptake inhibitors (SSRIs), serotonin and norepinephrine reuptake inhibitors (SNRIs), typical antipsychotics, atypical antipsychotics, and anxiolytics. The prevalence and long-term (> 3 months) prescription rates of psychotropic drugs in OA patients were calculated. Results: The study included 1,821,158 patients with OA (mean age 71.7 years; 65.32% female).Of the cohort, 49% had comorbidities for which psychotropics were indicated. The prevalence of psychotropic prescriptions decreased from 58.2% to 52.0% in 2018 and then leveled off.The long-term prescription rate remained constant until 2018 and then increased slightly.The most commonly prescribed psychotropics were opioids and long- and short-acting benzodiazepines. The prescription rates of opioids and long-acting benzodiazepines decreased from 2011 to 2020. For those with psychiatric co-morbidities, the prescription rates of anti-epileptics and SNRIs increased, while the prescription rates of anti-epileptics, SSRIs, other antidepressants, and atypical psychotropics increased for those without such co-morbidities. The most commonly prescribed psychotropics were diazepam and alprazolam, excluding tramadol and tramadol–acetaminophen combination. For those with psychiatric co-morbidities, the prescription rates of gabapentin and fentanyl increased, while for those without such co-morbidities, the prescription rates of lorazepam, fentanyl, escitalopram and quetiapine increased. Conclusion A significant number of older Korean patients with OA were prescribed psychotropic drugs in the absence of comorbidities requiring such drugs, including drugs that have little effect on OA and unfavorable safety profiles in older adults.

Purpose: As nursing continues to advance through digital health, clinical specialization, and interdisciplinary research, early-career nurse scientists are central to advancing innovation. However, Korea lacks a structured platform to support their research, collaboration, and career development. This review aimed to identify the needs of early-career nurse scientists and examine international best practices to guide the creation of an effective communication platform. Methods: This study involved a secondary analysis of the final report from the project “Establishment of a communication platform for young nursing scientists,” carried out by the Korean Society of Nursing Science. The report comprises data from focus group interviews with domestic graduate students and early-career researchers, a literature review of international communication and support systems, and a global policy analysis related to young nursing scientists. Based on this report, the present review synthesizes key findings and draws implications for the development of a communication platform in Korea. Results: International examples, such as grant writing programs, mentoring initiatives, and digital collaboration hubs, showed positive outcomes in strengthening research capacity and promoting the professional growth of nurse scientists. Based on these findings, key considerations for platform development include: (1) establishing clear leadership and a participatory governance model; (2) providing demand-driven content such as research guides, mentoring, and mental health resources; (3) implementing mechanisms to ensure sustainability, content quality, and user data protection; and (4) designing an integrated platform that fosters synergy across research, policy development, education, and global networking. Conclusion A digital platform for early-career nurse scientists should function not merely as an information portal, but also as dynamic infrastructure for collaboration, mentorship, and growth. It is recommended that the Korean Society of Nursing Science spearhead this initiative, with governmental support, to enhance the research capacity and expand the global engagement of Korean nursing scientists.

Background: There are few safe effective ways to relieve osteoarthritis (OA) pain; as a result, off-label psychotropic drug prescriptions have increased worldwide. This study examined the change in psychotropic drug prescriptions for patients with OA from 2011 to 2020 using the Korean National Health Insurance Service dataset. Methods: The study population consisted of patients with hip or knee OA aged ≥ 65 years.Psychotropic drugs included opioids, benzodiazepines, non-benzodiazepine hypnotics (Z-drugs), anti-epileptics, tricyclic antidepressants, selective serotonin reuptake inhibitors (SSRIs), serotonin and norepinephrine reuptake inhibitors (SNRIs), typical antipsychotics, atypical antipsychotics, and anxiolytics. The prevalence and long-term (> 3 months) prescription rates of psychotropic drugs in OA patients were calculated. Results: The study included 1,821,158 patients with OA (mean age 71.7 years; 65.32% female).Of the cohort, 49% had comorbidities for which psychotropics were indicated. The prevalence of psychotropic prescriptions decreased from 58.2% to 52.0% in 2018 and then leveled off.The long-term prescription rate remained constant until 2018 and then increased slightly.The most commonly prescribed psychotropics were opioids and long- and short-acting benzodiazepines. The prescription rates of opioids and long-acting benzodiazepines decreased from 2011 to 2020. For those with psychiatric co-morbidities, the prescription rates of anti-epileptics and SNRIs increased, while the prescription rates of anti-epileptics, SSRIs, other antidepressants, and atypical psychotropics increased for those without such co-morbidities. The most commonly prescribed psychotropics were diazepam and alprazolam, excluding tramadol and tramadol–acetaminophen combination. For those with psychiatric co-morbidities, the prescription rates of gabapentin and fentanyl increased, while for those without such co-morbidities, the prescription rates of lorazepam, fentanyl, escitalopram and quetiapine increased. Conclusion A significant number of older Korean patients with OA were prescribed psychotropic drugs in the absence of comorbidities requiring such drugs, including drugs that have little effect on OA and unfavorable safety profiles in older adults.

Purpose: We aimed to evaluate health-related quality of life (HRQoL) in intestinal failure (IF) patients after different modes of intestinal rehabilitation. Methods: HRQoL was assessed using the generic 36-item Short Form Survey (SF-36, ver. 2) and visual analogue scale (VAS) in 6 different areas: diet, sleep, gastrointestinal (GI) symptoms, diarrhea, musculoskeletal pain, and other symptoms. Results: Twenty-two patients completed the questionnaires, of which 7 had received intestinal transplant (ITx), 9 were continuing home total parenteral nutrition (HPN), and 6 had tapered off total parenteral nutrition (TPN). SF-36 physical component summary scores were highest in the ITx group (median, 65.6; interquartile range [IQR], 31.6–80.3) compared to the HPN (median, 48.4; IQR, 44.7–66.3) or tapered group (median, 54.2; IQR, 45.2–61.6). Mental component summary scores were lowest in the ITx group (median, 48.8; IQR, 37.1–63.6), compared to the TPN (median, 60.2; IQR, 41.6–78.5) or tapered group (median, 51.0; IQR, 48.8–56.0). Differences were not significant in all items of the SF-36. VAS scores showed that patients in the ITx group showed the best results in diet (0.9), gastrointestinal (GI) symptoms (1.4), and musculoskeletal pain (2.4). There was a significant difference in sleep (P = 0.036), with the ITx (1.43) and HPN groups (1.33) showing better outcomes compared with the tapered group (4.67). Patients in the tapered group showed the least favorable results in all performance areas, except GI symptoms. Conclusion SF-36 did not show a significant difference between the ITx, HPN, and tapered groups, but VAS showed a significant difference in sleep between groups. Further studies, including serial data, will allow a better understanding of the effects of different modes of intestinal rehabilitation.

Purpose: Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS. Materials and Methods: This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches. Results: TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making. Conclusion TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.

Purpose: As nursing continues to advance through digital health, clinical specialization, and interdisciplinary research, early-career nurse scientists are central to advancing innovation. However, Korea lacks a structured platform to support their research, collaboration, and career development. This review aimed to identify the needs of early-career nurse scientists and examine international best practices to guide the creation of an effective communication platform. Methods: This study involved a secondary analysis of the final report from the project “Establishment of a communication platform for young nursing scientists,” carried out by the Korean Society of Nursing Science. The report comprises data from focus group interviews with domestic graduate students and early-career researchers, a literature review of international communication and support systems, and a global policy analysis related to young nursing scientists. Based on this report, the present review synthesizes key findings and draws implications for the development of a communication platform in Korea. Results: International examples, such as grant writing programs, mentoring initiatives, and digital collaboration hubs, showed positive outcomes in strengthening research capacity and promoting the professional growth of nurse scientists. Based on these findings, key considerations for platform development include: (1) establishing clear leadership and a participatory governance model; (2) providing demand-driven content such as research guides, mentoring, and mental health resources; (3) implementing mechanisms to ensure sustainability, content quality, and user data protection; and (4) designing an integrated platform that fosters synergy across research, policy development, education, and global networking. Conclusion A digital platform for early-career nurse scientists should function not merely as an information portal, but also as dynamic infrastructure for collaboration, mentorship, and growth. It is recommended that the Korean Society of Nursing Science spearhead this initiative, with governmental support, to enhance the research capacity and expand the global engagement of Korean nursing scientists.

Purpose: Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS. Materials and Methods: This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches. Results: TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making. Conclusion TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.

Purpose: We aimed to evaluate health-related quality of life (HRQoL) in intestinal failure (IF) patients after different modes of intestinal rehabilitation. Methods: HRQoL was assessed using the generic 36-item Short Form Survey (SF-36, ver. 2) and visual analogue scale (VAS) in 6 different areas: diet, sleep, gastrointestinal (GI) symptoms, diarrhea, musculoskeletal pain, and other symptoms. Results: Twenty-two patients completed the questionnaires, of which 7 had received intestinal transplant (ITx), 9 were continuing home total parenteral nutrition (HPN), and 6 had tapered off total parenteral nutrition (TPN). SF-36 physical component summary scores were highest in the ITx group (median, 65.6; interquartile range [IQR], 31.6–80.3) compared to the HPN (median, 48.4; IQR, 44.7–66.3) or tapered group (median, 54.2; IQR, 45.2–61.6). Mental component summary scores were lowest in the ITx group (median, 48.8; IQR, 37.1–63.6), compared to the TPN (median, 60.2; IQR, 41.6–78.5) or tapered group (median, 51.0; IQR, 48.8–56.0). Differences were not significant in all items of the SF-36. VAS scores showed that patients in the ITx group showed the best results in diet (0.9), gastrointestinal (GI) symptoms (1.4), and musculoskeletal pain (2.4). There was a significant difference in sleep (P = 0.036), with the ITx (1.43) and HPN groups (1.33) showing better outcomes compared with the tapered group (4.67). Patients in the tapered group showed the least favorable results in all performance areas, except GI symptoms. Conclusion SF-36 did not show a significant difference between the ITx, HPN, and tapered groups, but VAS showed a significant difference in sleep between groups. Further studies, including serial data, will allow a better understanding of the effects of different modes of intestinal rehabilitation.