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.

Background: The 2020 European Society of Cardiology (ESC) 0-hr/1-hr algorithm using high-sensitivity cardiac troponin I (hs-cTnI) for non-ST-segment elevation acute coronary syndrome (NSTE-ACS) aims at early diagnosis and shorter emergency department (ED) stays. While this algorithm has been well-established in controlled studies, real-world implementation remains challenging. We evaluated the algorithm’s clinical performance and risk stratification capability in patients with chest pain or discomfort. Methods: We measured hs-cTnI in 4,678 patients suspected of NSTE-ACS between August 2022 and July 2023, using an Atellica IM Analyzer (Siemens Healthineers, Erlangen, Germany). We categorized patients into rule-in, observe, or rule-out groups according to the algorithm and assessed its diagnostic performance for NSTE-ACS. The final diagnosis of NSTE-ACS was adjudicated by two independent physicians. Additionally, we evaluated 30-day all-cause mortality, hazard risk, and ED length of stay across the three groups. Results: The algorithm categorized 3,408 (72.9%), 573 (12.2%), and 697 (14.9%) patients into the rule-out, observe, and rule-in groups, respectively. Among 90 patients diagnosed as having NSTE-ACS, none were falsely categorized into the rule-out group. Survival analysis revealed significant differences (P < 0.001), with Cox hazard ratios of 2.38 (95% confidence interval: 1.20–4.71) and 6.39 (3.45–11.86) in the observe and rule-in groups, respectively. ED stays shortened in the order of rule-out, observe, and rule-in groups (P < 0.001). Conclusions The 2020 ESC 0-hr/1-hr algorithm demonstrates excellent diagnostic accuracy without false rule-outs and effective risk stratification, and contributes to efficient ED throughput, supporting its clinical utility in real-world emergency settings.

Background: Cytomegalovirus (CMV) infection is prevalent worldwide. Although Korea has historically shown high CMV IgG seropositivity ( > 95%), declines have been reported recently. We assessed current CMV IgG seropositivity and analyzed prevailing trends in the Korean population. Methods: Residual samples from individuals undergoing regular health checkups were analyzed. We assessed 1,978 samples (from 937 men and 1,041 women) where the age group distribution was relatively balanced. CMV IgG levels were measured at two institutions using a commercial immunoassay (Alinity i CMV IgG Reagent Kit, Abbott) following the manufacturer’s instructions. Results were interpreted as “reactive” when the CMV IgGconcentration was ≥ 6.0 arbitrary units (AU)/mL or “nonreactive” when the CMV IgG con-centration was < 6.0 AU/mL. Seropositivity was compared by sex and across age groups (20–29, 30–39, 40–49, and 50–59 yrs). Results: The overall CMV IgG seropositivity was 89.9% (1,778/1,978) and was significantly higher in men (91.7%, 859/937) than in women (88.3%, 919/1,041) (difference:3.4%; 95% confidence interval: 0.8%–6.0%; P = 0.012, chi-square test). No significant differences with regard to sex were found within each age group. Seropositivity increased with age, from 76.3% (347/455, 20–29 yrs) to 99.8% (448/449, 50–59 yrs) (P for trend < 0.001), consistently in both sexes. Conclusions Our findings provide the most up-to-date estimate of CMV IgG seropositivity in the Korean adult population. Because of lower seropositivity in younger adults, continued monitoring and further education are essential for CMV control and prevention.

Porcine epidemic diarrhea virus (PEDV) is a highly contagious and lethal pig coronavirus, particularly in neonatal piglets. The main route of PEDV transmission is the fecal-oral route via direct contact with infected pigs. As pigs are commonly transported to slaughterhouses in trucks, PEDV can infect farms through contact with contaminated trucks. In South Korea, there is insufficient understanding of pig transportation as a major source of virus transmission. Therefore, this study evaluated the presence of PEDV in transportation and slaughterhouses and investigated possible contamination sources. In total, 401 environmental samples were collected by swabbing surface areas with cotton gauze and classified into 4 categories based on their sampling location: vehicle interior, vehicle exterior, drivers, and slaughterhouses. The swab samples exhibited a relatively high PEDV detection rate of 19.2% (77/401). The detection rate was highest for the slaughterhouse (38.2%, 21/55) and lowest for the vehicle interior (13.0%, 12/92). Genetic and phylogenetic analysis revealed that all sequenced isolates belonged to the highly pathogenic genotype 2b currently circulating in South Korea. The high PEDV detection rates in transport vehicles and slaughterhouses suggest that transportation plays a major role in PEDV introduction into farms. Our findings emphasize the need to enforce biosecurity protocols, including adequate hygiene measures, to mitigate the risks associated with pig transportation.

Objective: This study aimed to assess the prevalence and genotypic traits of PCV2 and PCV3 in wild boars in the Gyeongnam region. Methods: Serum samples from wild boars in Gyeongnam Province were screened for PCV2 and PCV3, and polymerase chain reaction-positive samples were further subjected to genotyping and whole-genome sequencing of PCV2 and PCV3. Results: Thirty-eight samples tested positive for PCV2, 7 for PCV3, and 2 for PCV2 and PCV3 (coinfection). PCV2d and PCV3b are the dominant genotypes, causing PCV2 and PCV3 coinfections. Wild boar PCV2 and PCV3 viruses closely resemble their corresponding genotypic strains circulating in South Korea. Conclusions and Relevance: The circulation of PCV2 and/or PCV3 in wild species poses an additional challenge for commercial pig farming due to potential contact with infected wild boars. Our findings highlight the necessity for active monitoring and surveillance of wild boars and the enforcement of stringent biosecurity measures on commercial swine farms to mitigate the risk of PCV spillover to the domestic pig population.

Objective: This study aimed to assess the prevalence and genotypic traits of PCV2 and PCV3 in wild boars in the Gyeongnam region. Methods: Serum samples from wild boars in Gyeongnam Province were screened for PCV2 and PCV3, and polymerase chain reaction-positive samples were further subjected to genotyping and whole-genome sequencing of PCV2 and PCV3. Results: Thirty-eight samples tested positive for PCV2, 7 for PCV3, and 2 for PCV2 and PCV3 (coinfection). PCV2d and PCV3b are the dominant genotypes, causing PCV2 and PCV3 coinfections. Wild boar PCV2 and PCV3 viruses closely resemble their corresponding genotypic strains circulating in South Korea. Conclusions and Relevance: The circulation of PCV2 and/or PCV3 in wild species poses an additional challenge for commercial pig farming due to potential contact with infected wild boars. Our findings highlight the necessity for active monitoring and surveillance of wild boars and the enforcement of stringent biosecurity measures on commercial swine farms to mitigate the risk of PCV spillover to the domestic pig population.

Objective: This study aimed to assess the prevalence and genotypic traits of PCV2 and PCV3 in wild boars in the Gyeongnam region. Methods: Serum samples from wild boars in Gyeongnam Province were screened for PCV2 and PCV3, and polymerase chain reaction-positive samples were further subjected to genotyping and whole-genome sequencing of PCV2 and PCV3. Results: Thirty-eight samples tested positive for PCV2, 7 for PCV3, and 2 for PCV2 and PCV3 (coinfection). PCV2d and PCV3b are the dominant genotypes, causing PCV2 and PCV3 coinfections. Wild boar PCV2 and PCV3 viruses closely resemble their corresponding genotypic strains circulating in South Korea. Conclusions and Relevance: The circulation of PCV2 and/or PCV3 in wild species poses an additional challenge for commercial pig farming due to potential contact with infected wild boars. Our findings highlight the necessity for active monitoring and surveillance of wild boars and the enforcement of stringent biosecurity measures on commercial swine farms to mitigate the risk of PCV spillover to the domestic pig population.

Objective: This study aimed to assess the prevalence and genotypic traits of PCV2 and PCV3 in wild boars in the Gyeongnam region. Methods: Serum samples from wild boars in Gyeongnam Province were screened for PCV2 and PCV3, and polymerase chain reaction-positive samples were further subjected to genotyping and whole-genome sequencing of PCV2 and PCV3. Results: Thirty-eight samples tested positive for PCV2, 7 for PCV3, and 2 for PCV2 and PCV3 (coinfection). PCV2d and PCV3b are the dominant genotypes, causing PCV2 and PCV3 coinfections. Wild boar PCV2 and PCV3 viruses closely resemble their corresponding genotypic strains circulating in South Korea. Conclusions and Relevance: The circulation of PCV2 and/or PCV3 in wild species poses an additional challenge for commercial pig farming due to potential contact with infected wild boars. Our findings highlight the necessity for active monitoring and surveillance of wild boars and the enforcement of stringent biosecurity measures on commercial swine farms to mitigate the risk of PCV spillover to the domestic pig population.

Fertility preservation is a major concern in young patients diagnosed with breast cancer and planning to receive multimodality treatment, including gonadotoxic chemotherapy with or without age-related decline through long-term endocrine therapy. Most breast cancer patients undergo multimodality treatments; many short-term and long-term side effects arise during these therapies. One of the most detrimental side effects is reduced fertility due to gonadotoxic treatments with resultant psychosocial stress. Cryopreservation of oocytes, embryos, and ovarian tissue are currently available fertility preservation methods for these patients. As an adjunct to these methods, in vitro maturation or gonadotropinreleasing hormone agonist could also be considered. It is also essential to communicate well with patients in the decision-making process on fertility preservation. It is essential to refer patients diagnosed with breast cancer on time to fertility specialists for individualized treatment, which may lead to desirable outcomes. To do so, a multimodal team-based approach and in-depth discussion on the treatment of breast cancer and fertility preservation is crucial. This review aims to summarize infertility risk related to currently available breast cancer treatment, options for fertility preservation and its details, barriers to oncofertility counseling, and psychosocial issues.

Porcine epidemic diarrhea virus (PEDV) has posed significant financial threats to the domestic pig industry over the last three decades in South Korea. PEDV infection will mostly result in endemic persistence in the affected farrow-to-finish (FTF) herds, leading to endemic porcine epidemic diarrhea (PED) followed by year-round recurrent outbreaks. This review aims to encourage collaboration among swine producers, veterinarians, and researchers to offer answers that strengthen our understanding of PEDV in efforts to prevent and control endemic PED and to prepare for the next epidemics or pandemics. We found that collaboratively implementing a PED risk assessment and customized four-pillar-based control measures is vital to interrupt the chain of endemic PED in affected herds: the former can identify on-farm risk factors while the latter aims to compensate for or improve weaknesses via herd immunity stabilization and virus elimination. Under endemic PED, long-term virus survival in slurry and asymptomatically infected gilts (“Trojan Pigs”) that can transmit the virus to farrowing houses are key challenges for PEDV eradication in FTF farms and highlight the necessity for active monitoring and surveillance of the virus in herds and their environments. This paper underlines the current knowledge of molecular epidemiology and commercially available vaccines, as well as the risk assessment and customized strategies to control PEDV. The intervention measures for stabilizing herd immunity and eliminating virus circulation may be the cornerstone of establishing regional or national PED eradication programs.