1.Connective tissue disease is associated with the risk of posterior reversible encephalopathy syndrome following lung transplantation in Korea
Tae Jung KIM ; Hyun Joo LEE ; Samina PARK ; Sang-Bae KO ; Soo-Hyun PARK ; Seung Hwan YOON ; Kwon Joong NA ; In Kyu PARK ; Chang Hyun KANG ; Young Tae KIM ; Sun Mi CHOI ; Jimyung PARK ; Joong-Yub KIM ; Hong Yeul LEE
Acute and Critical Care 2025;40(1):79-86
Background:
Posterior reversible encephalopathy syndrome (PRES) is a rare complication of lung transplantation with poorly understood risk factors and clinical characteristics. This study aimed to examine the occurrence, risk factors, and clinical data of patients who developed PRES following lung transplantation.
Methods:
A retrospective analysis was conducted on 147 patients who underwent lung transplantation between February 2013 and December 2023. The patients were diagnosed with PRES based on the clinical symptoms and radiological findings. We compared the baseline characteristics and clinical information, including primary lung diseases and immunosuppressive therapy related to lung transplantation operations, between the PRES and non-PRES groups.
Results:
PRES manifested in 7.5% (n=11) of the patients who underwent lung transplantation, with a median onset of 15 days after operation. Seizures were identified as the predominant clinical manifestation (81.8%, n=9) in the group diagnosed with PRES. All patients diagnosed with PRES recovered fully. Patients with PRES were significantly associated with connective tissue disease-associated interstitial lung disease (45.5% vs. 18.4%, P=0.019, odds ratio=9.808; 95% CI, 1.064–90.386; P=0.044). Nonetheless, no significant variance was observed in the type of immunotherapy, such as the use of calcineurin inhibitors, blood pressure, or acute renal failure subsequent to lung transplantation.
Conclusions
PRES typically manifests shortly after lung transplantation, with seizures being the predominant initial symptom. The presence of preexisting connective tissue disease as the primary lung disease represents a significant risk factor for PRES following lung transplantation.
2.Primary Cutaneous CD30+ Lymphoproliferative Disorders in South Korea: A Nationwide, Multi-Center, Retrospective, Clinical, and Prognostic Study
Woo Jin LEE ; Sook Jung YUN ; Joon Min JUNG ; Joo Yeon KO ; Kwang Ho KIM ; Dong Hyun KIM ; Myung Hwa KIM ; You Chan KIM ; Jung Eun KIM ; Chan-Ho NA ; Je-Ho MUN ; Jong Bin PARK ; Ji-Hye PARK ; Hai-Jin PARK ; Dong Hoon SHIN ; Jeonghyun SHIN ; Sang Ho OH ; Seok-Kweon YUN ; Dongyoun LEE ; Seok-Jong LEE ; Seung Ho LEE ; Young Bok LEE ; Soyun CHO ; Sooyeon CHOI ; Jae Eun CHOI ; Mi Woo LEE ; On behalf of The Korean Society of Dermatopathology
Annals of Dermatology 2025;37(2):75-85
Background:
Primary cutaneous CD30+ lymphoproliferative disorders (pcCD30-LPDs) are a diseases with various clinical and prognostic characteristics.
Objective:
Increasing our knowledge of the clinical characteristics of pcCD30-LPDs and identifying potential prognostic variables in an Asian population.
Methods:
Clinicopathological features and survival data of pcCD30-LPD cases obtained from 22 hospitals in South Korea were examined.
Results:
A total of 413 cases of pcCD30-LPDs (lymphomatoid papulosis [LYP], n=237; primary cutaneous anaplastic large cell lymphoma [C-ALCL], n=176) were included. Ninety percent of LYP patients and roughly 50% of C-ALCL patients presented with multiple skin lesions. Both LYP and C-ALCL affected the lower limbs most frequently. Multiplicity and advanced T stage of LYP lesions were associated with a chronic course longer than 6 months. Clinical morphology with patch lesions and elevated serum lactate dehydrogenase were significantly associated with LPDs during follow-up in LYP patients. Extracutaneous involvement of C-ALCL occurred in 13.2% of patients. Lesions larger than 5 cm and increased serum lactate dehydrogenase were associated with a poor prognosis in C-ALCL. The survival of patients with C-ALCL was unaffected by the anatomical locations of skin lesions or other pathological factors.
Conclusion
The multiplicity or size of skin lesions was associated with a chronic course of LYP and survival among patients with C-ALCL.
3.Evaluation of the Disk Diffusion Test for Bacteroides fragilis Group Clinical Isolates
Yangsoon LEE ; Mi-Hyun BAE ; Hyukmin LEE ; Myungsook KIM ; Kyungwon LEE
Annals of Laboratory Medicine 2025;45(1):70-76
Background:
Bacteroides fragilis group (BFG) isolates are the most frequently isolated gram-negative anaerobic bacteria and exhibit higher levels of antimicrobial resistance than other anaerobic bacteria. Reliable susceptibility testing is needed because of reports of resistance to the most active antibiotics. Recently, the European Committee on Antimicrobial Susceptibility Testing (EUCAST) introduced disk zone diameter breakpoints. We evaluated the disk diffusion test (DDT) for susceptibility testing of BFG isolates compared with the agar dilution method.
Methods:
In total, 150 BFG isolates were collected from three institutes in Korea. The agar dilution method was conducted according to the CLSI guidelines. DDT was performed following the EUCAST guideline. Fastidious anaerobe agar supplemented with 5% defibrinated horse blood was used as the culture medium. Nine antimicrobials were evaluated:penicillin, cefoxitin, cefotetan, imipenem, meropenem, piperacillin-tazobactam, clindamycin, moxifloxacin, and metronidazole.
Results:
The categorical agreement (CA) between the two methods was > 90.0% for imipenem, meropenem, clindamycin, and metronidazole. However, the CA for piperacillintazobactam was low, at 83.2%. Major errors were found: 5.4% for imipenem, 7.4% for meropenem, and 12.8% for piperacillin-tazobactam. All minor errors were < 10%. We propose using the area of technical uncertainty (ATU) zone-overlapping area for susceptible and resistant strains to reduce errors in the DDT. Outside the ATU, the CAs of cefoxitin, cefotetan, and piperacillin-tazobactam were > 90.0%, whereas that of moxifloxacin was increased to 88.5%.
Conclusions
The DDT can be a useful alternative antimicrobial susceptibility test for BFG isolates when using the ATU zone to reduce errors.
4.TP53 Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study
Hyun-Young KIM ; Saeam SHIN ; Jong-Mi LEE ; In-Suk KIM ; Boram KIM ; Hee-Jin KIM ; Yu Jeong CHOI ; Byunggyu BAE ; Yonggoo KIM ; Eunhui JI ; Hyerin KIM ; Hyerim KIM ; Jee-Soo LEE ; Yoon Hwan CHANG ; Hyun Kyung KIM ; Ja Young LEE ; Shinae YU ; Miyoung KIM ; Young-Uk CHO ; Seongsoo JANG ; Myungshin KIM
Annals of Laboratory Medicine 2025;45(2):160-169
Background:
TP53 mutations are associated with poor prognosis in myelodysplastic neoplasm (MDS) and AML. The updated 5th WHO classification and International Consensus Classification (ICC) categorize TP53-mutated MDS and AML as unique entities. We conducted a multicenter study in Korea to investigate the characteristics of TP53-mutated MDS and AML, focusing on diagnostic aspects based on updated classifications.
Methods:
This study included patients aged ≥ 18 yrs who were diagnosed as having MDS(N = 1,244) or AML (N = 2,115) at six institutions. The results of bone marrow examination, cytogenetic studies, and targeted next-generation sequencing, including TP53, were collected and analyzed.
Results:
TP53 mutations were detected in 9.3% and 9.2% of patients with MDS and AML, respectively. Missense mutation was the most common, with hotspot codons R248/ R273/G245/Y220/R175/C238 accounting for 25.4% of TP53 mutations. Ten percent of patients had multiple TP53 mutations, and 78.4% had a complex karyotype. The median variant allele frequency (VAF) of TP53 mutations was 41.5%, with a notable difference according to the presence of a complex karyotype. According to the 5th WHO classification and ICC, the multi-hit TP53 mutation criteria were met in 58.6% and 75% of MDS patients, respectively, and the primary determinants were a TP53 VAF > 50% for the 5th WHO classification and the presence of a complex karyotype for the ICC.
Conclusions
Collectively, we elucidated the molecular genetic characteristics of patients with TP53-mutated MDS and AML, highlighting key factors in applying TP53 mutation-related criteria in updated classifications, which will aid in establishing diagnostic strategies.
5.Epidemiology of Nontyphoidal Salmonella Infections in Korean Children and Genetic Factors Associated with Extra-intestinal Invasion: A Whole-genome Sequencing Analysis
Hyun Mi KANG ; Jiyon CHU ; In Hyuk YOO ; In Young YOO ; Jeong-Ih SHIN ; Mi-Ran SEO ; Yeun-Jun CHUNG ; Seung-Hyun JUNG ; Yeon Joon PARK
Annals of Laboratory Medicine 2025;45(3):312-321
Background:
Understanding the virulence and pathogenicity of invasive nontyphoidal Salmonella (iNTS) in children may support timely treatment and enable closer monitoring of chronic infections. iNTS epidemiology in Asia remains inadequately described. We analyzed the genetic diversity and virulence genes associated with extra-intestinal invasion in Korean children.
Methods:
Salmonella isolates from children < 18 yrs of age diagnosed with moderate-tosevere salmonellosis between January 2019 and December 2021 were subjected to antibiotic susceptibility testing and whole-genome sequencing.
Results:
In total, 58 cases were included. We identified 20 serotypes, the most prevalent being Salmonella Enteritidis (N = 21), followed by Infantis (N = 6), I 4,[5],12:i:- (N = 5), and Bareilly (N = 5). Extra-intestinal invasion occurred in 12 (20.7%) cases involving Salmonella Oranienburg (2/2), Give (1/1), Javiana (1/1), Paratyphi B var. L(+) tartrate+ (1/1), Schwarzengrund (1/1), Singapore (1/1), Montevideo (1/2), Saintpaul (1/2), I 4:b:- (1/2), Infantis (1/6), and Enteritidis (1/21). While the numbers of total virulence genes and genes belonging to major virulence categories did not significantly differ between iNTS and noniNTS, several genetic factors, including Salmonella pathogenicity island (SPI)-1 (P = 0.039), SPI-2 (P = 0.020), SPI-5 (P = 0.014), SPI-13 (P = 0.010), cytolethal distending toxin-related genes (P = 1.4 × 10 –4 ), fepC (P = 0.021), and tcpC (P = 0.040) were more frequent in invasive isolates.
Conclusions
Salmonella Enteritidis-ST11 predominated in infections among Korean children, but invasive isolates were rare. Early detection of genetic factors associated with extra-intestinal invasion will be helpful for prompt and appropriate treatment.
6.Evaluation of Exosome-derived Small RNAs as Potential Biomarkers for Pancreatic Ductal Adenocarcinoma Using Next-generation Sequencing
Hyemin KIM ; Sabin PARK ; Myung Ji GOH ; Young Hoon CHOI ; Minjee KIM ; Jin Ho CHOI ; Jung Hyun KIM ; Eun Mi LEE ; Se-Hoon LEE ; Kyu Taek LEE ; Kwang Hyuk LEE ; Jong Kyun LEE ; Semin LEE ; Joo Kyung PARK
Annals of Laboratory Medicine 2025;45(6):609-619
Background:
Pancreatic ductal adenocarcinoma (PDAC) has a poor prognosis and lacks clinical biomarkers. Exosomes are extracellular vesicles that facilitate cell–cell communication by distributing macromolecules, such as small RNAs (smRNAs). We assessed the potential of exosome-derived small RNAs (Ex-smRNAs) as PDAC biomarkers.
Methods:
Peripheral blood was collected from 51 patients with PDAC and 15 control individuals. Exosomes were isolated using an aqueous two-phase system. Ex-smRNAs were analyzed using smRNA sequencing. smRNA-mediated target gene regulation was verified via The Cancer Genome Atlas analysis and in vitro transfection and wound-healing assays using PDAC organoids.
Results:
The total Ex-smRNA count was substantially reduced in patients with PDAC compared with that in control individuals. The levels of microRNAs (miRNAs) miR-125a-5p, miR-30e-5p, miR-16-2-3p, miR-98-5p, and the let-7 family were significantly suppressed, whereas that of miR-6731-5p was significantly elevated. Let-7c-5p and miR-98-5p were found to interact with the long non-coding RNA OLMALINC to regulate their common target genes, BACH1 and CCND1, thus controlling PDAC proliferation and migration. The expressions of CARS1-AS1 and miR-142-5p were upregulated in treatment-responsive patients.Multivariable Cox regression analyses, adjusting for potential prognostic factors such as sex, Eastern Cooperative Oncology Group performance status, and tumor size and stage, revealed that CARS1-AS1 (adjusted hazard ratio [HR] 0.33; 95% confidence interval [CI], 0.15–0.73; P = 0.0061) and miR-142-5p (adjusted HR 0.79; 95% CI, 0.61–1.01; P = 0.0581) were associated with improved overall survival.
Conclusions
We identified potential Ex-smRNA biomarkers involved in PDAC progression and prognosis that reflect key molecular alterations in PDAC and may serve as clinically relevant biomarkers for disease monitoring.
8.Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic SLC25A13 Variants
Mi-Ae JANG ; Won Young HEO ; Jong Kwon LEE ; Jong-Won KIM ; Sang-Mi KIM ; Ja-Hyun JANG ; Hyung-Doo PARK
Annals of Laboratory Medicine 2025;45(5):530-538
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.
9.Factors affecting dry eye syndrome and quality of life among college students in Korea: a cross-sectional study
Mi-Kyoung CHO ; Seonhwa YOON ; Yoojin CHO ; Younhye JUN ; Jiseon CHOI ; Minyoung RYU ; Myeong Jin KIM ; Ga Hyun SUNG
Journal of Korean Biological Nursing Science 2025;27(1):72-84
This study aimed to identify the factors affecting dry eye syndrome and quality of life (QoL) among college students. Methods: This cross-sectional study administered a descriptive survey to 184 college students across Korea. Data collection was conducted from August 27 to 28, 2024, using an online survey platform (Google Forms). The self-reported survey comprised the Health-Related Quality of Life Instrument with 8 Items scale, the Dry Eye Questionnaire 5, and the Ocular Surface Disease Index. Data analysis was performed using SPSS version 27.0. Results: The participants had a mean age of 21.37 (standard deviation 1.96) years. Regression analysis identified sleep satisfaction, vision-related functions, and dry eye symptoms as statistically significant predictors of QoL, accounting for 18.4% of the variance (F = 14.71, p < .001). Dry eye symptoms were significantly influenced by the use of artificial tears, vision-related functions, and environmental factors, which accounted for 41.3% of the variance (F = 43.93, p < .001). Additionally, significant determinants of ocular surface disease included the use of vision correction tools, the presence of ophthalmic diseases, sleep satisfaction, and dry eye symptoms. These factors explained 45.7% of the variance, confirming the model's robustness (F = 31.84, p < .001). Conclusion: It is necessary to identify strategies to alleviate dry eye syndrome in college students and develop comprehensive prevention and management programs to improve their QoL.
10.Influence of self-efficacy in health management and resilience on treatment compliance in Korean patients undergoing percutaneous coronary intervention: a descriptive survey study
Mi-Ra JUNG ; Eun JEONG ; Kyung Sim LEE ; Jang Hyun CHO
Journal of Korean Biological Nursing Science 2025;27(2):266-274
This study aimed to identify factors influencing treatment compliance in Korean patients undergoing percutaneous coronary intervention. Methods: The study included 130 patients who underwent percutaneous coronary intervention at St. Carollo Hospital. Data were collected using self-administered questionnaires from March 21, 2022 to May 30, 2023, and analyzed using descriptive statistics, the t-test, analysis of variance, the Scheffé test, Pearson correlation coefficients, and multiple regression in SPSS version 26.0. Results: Resilience (β = .59, p < .001), alcohol drinking (β = −.18, p = .005), and the diagnosis (β = .13, p = .040) accounted for 45.0% of the variance in treatment compliance in patients undergoing percutaneous coronary intervention. Conclusion: These results indicate that it is necessary to explore strategies for developing and implementing programs that can effectively enhance resilience in patients who have undergone percutaneous coronary intervention.

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