In the era of precision medicine, pharmacogenetics has substantial potential for addressing inter-individual variability in drug responses. Although pharmacogenetics has been a research focus for many years, resulting in the establishment of several formal guidelines, its clinical implementation remains limited to several gene–drug combinations in most countries, including Korea. The main causes of delayed implementation are technical challenges in genotyping and knowledge gaps among healthcare providers; therefore, clinical laboratories play a critical role in the timely implementation of pharmacogenetics. This paper presents an update of the Clinical Pharmacogenetic Testing and Application guidelines issued by the Korean Society for Laboratory Medicine and aims to provide the necessary information for clinical laboratories planning to implement or expand their pharmacogenetic testing. Current knowledge regarding nomenclature, gene–drug relationships, genotyping technologies, testing strategies, methods for clinically relevant information delivery, QC, and reimbursements has been curated and described in this guideline.

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.

Background: In Korea, the patterns of prevalence of gynecological cancers have shifted due to rising obesity-related cancer cases. We evaluated the associations of body mass index (BMI) and waist circumference (WC) with the risk of gynecological malignancy in Korean women. Methods: Using National Health Insurance Service cohort data, we analyzed 365,581 participants among the 1,999,980 women aged ≥ 19 years who underwent health check-ups at the baseline year 2009–2010, excluding those who died, those with prior cancer diagnoses, underwent hysterectomy and/or salpingo-oophorectomy before the index date (January 1st, 2011), or missing/outliers BMI and WC values. Follow-up extended to December 31st, 2021, evaluating the incidences of endometrial, ovarian, and cervical cancer. The hazard ratios (HRs) and 95% confidence intervals (CIs) for each gynecological malignancy according to BMI and WC were calculated using Cox proportional hazard regression. Results: Among the 365,581 participants, 898, 1,268, and 873 cases of endometrial, ovarian, and cervical cancer occurred, respectively. HRs (95% CIs) for endometrial cancer were 1.37 (1.15–1.63), 1.63 (1.38–1.94), and 3.64 (2.81–4.70) for BMIs of 23.0–24.9, 25.0–29.9, and ≥ 30 kg/m2 compared to BMI of 18.5–22.9 kg/m2 (P for trend < 0.001). HRs (95% CIs) for ovarian cancer were 1.16 (1.00–1.33), 1.19 (1.03–1.37), and 1.49 (1.12–1.98) for BMIs of 23.0–24.9, 25.0–29.9, and ≥ 30 kg/m2 compared to BMI of 18.5–22.9 kg/m2 (P for trend = 0.002). No significant association was found between BMI and the risk for cervical cancer (P for trend = 0.266). HRs (95% CIs) for endometrial cancer were 1.35 (1.09–1.66), 1.41 (1.14–1.74), and 1.90 (1.55–2.34) for the 2nd, 3rd, and 4th quartiles of WCs compared to the 1st quartile (P for trend <0.001). Ovarian cancer tended to increase and cervical cancer tended to decrease as WC increased (P for trend = 0.035 for ovarian cancer, P for trend = 0.034 for cervical cancer). Conclusion In Korean women, the risks of endometrial and ovarian cancers increased significantly from the pre-obese level as BMI and WC increased, while cervical cancer risk tended to increase as WC decreased. Management of obesity should be reinforced for the prevention of obesity-related gynecological cancers, considering the increasing incidence of these cancers among Korean women.

Purpose: This study investigated the effects of a nursing leadership program on self-leadership, interpersonal relationships, clinical performance, problem-solving abilities, and nursing professionalism among nursing students in South Korea. Methods: A quasi-experimental study was conducted. The Practice-Driven Nursing Leadership Program for Students (PDNLP-S) was developed based on the ADDIE model (analysis, design, development, implementation, and evaluation). This quasi-experimental study design included 60 nursing students. The experimental group (n=30) participated in the PDNLP-S for 120-minute sessions over 5 weeks, while the control group (n=30) received usual lectures. The PDNLP-S included lectures, discussions, and individual and group activities to cultivate core nursing leadership competencies such as individual growth, collaboration, nursing excellence, creative problem-solving, and influence. Data were analyzed using descriptive statistics, the Mann-Whitney U-test, and the independent t-test with IBM SPSS Windows ver. 26.0. Results: The experimental group demonstrated significant improvements in self-leadership (t=3.28, p=.001), interpersonal relationships (t=3.07, p=.002), clinical performance (U=268.50, p=.004), and problem-solving abilities (t=2.20, p=.017) compared to the control group. No significant difference was observed in nursing professionalism (t=0.50, p=.311). Conclusion This study demonstrates that the PDNLP-S improved nursing students’ self-leadership, interpersonal relationships, clinical performance, and problem-solving abilities. The PDNLP-S can play a significant role in cultivating future nurse leaders by enhancing these nursing leadership competencies among nursing students.

Background: In Korea, the patterns of prevalence of gynecological cancers have shifted due to rising obesity-related cancer cases. We evaluated the associations of body mass index (BMI) and waist circumference (WC) with the risk of gynecological malignancy in Korean women. Methods: Using National Health Insurance Service cohort data, we analyzed 365,581 participants among the 1,999,980 women aged ≥ 19 years who underwent health check-ups at the baseline year 2009–2010, excluding those who died, those with prior cancer diagnoses, underwent hysterectomy and/or salpingo-oophorectomy before the index date (January 1st, 2011), or missing/outliers BMI and WC values. Follow-up extended to December 31st, 2021, evaluating the incidences of endometrial, ovarian, and cervical cancer. The hazard ratios (HRs) and 95% confidence intervals (CIs) for each gynecological malignancy according to BMI and WC were calculated using Cox proportional hazard regression. Results: Among the 365,581 participants, 898, 1,268, and 873 cases of endometrial, ovarian, and cervical cancer occurred, respectively. HRs (95% CIs) for endometrial cancer were 1.37 (1.15–1.63), 1.63 (1.38–1.94), and 3.64 (2.81–4.70) for BMIs of 23.0–24.9, 25.0–29.9, and ≥ 30 kg/m2 compared to BMI of 18.5–22.9 kg/m2 (P for trend < 0.001). HRs (95% CIs) for ovarian cancer were 1.16 (1.00–1.33), 1.19 (1.03–1.37), and 1.49 (1.12–1.98) for BMIs of 23.0–24.9, 25.0–29.9, and ≥ 30 kg/m2 compared to BMI of 18.5–22.9 kg/m2 (P for trend = 0.002). No significant association was found between BMI and the risk for cervical cancer (P for trend = 0.266). HRs (95% CIs) for endometrial cancer were 1.35 (1.09–1.66), 1.41 (1.14–1.74), and 1.90 (1.55–2.34) for the 2nd, 3rd, and 4th quartiles of WCs compared to the 1st quartile (P for trend <0.001). Ovarian cancer tended to increase and cervical cancer tended to decrease as WC increased (P for trend = 0.035 for ovarian cancer, P for trend = 0.034 for cervical cancer). Conclusion In Korean women, the risks of endometrial and ovarian cancers increased significantly from the pre-obese level as BMI and WC increased, while cervical cancer risk tended to increase as WC decreased. Management of obesity should be reinforced for the prevention of obesity-related gynecological cancers, considering the increasing incidence of these cancers among Korean women.

Background: and Purpose We aimed to determine the proportion of Korean patients with early Alzheimer’s disease (AD) who are eligible to receive lecanemab based on the United States Appropriate Use Recommendations (US AUR), and also identify the barriers to this treatment. Methods: We retrospectively enrolled 6,132 patients with amnestic mild cognitive impairment or mild amnestic dementia at 13 hospitals from June 2023 to May 2024. Among them, 2,058 patients underwent amyloid positron emission tomography (PET) and 1,199 (58.3%) of these patients were amyloid-positive on PET. We excluded 732 patients who did not undergo brain magnetic resonance imaging between June 2023 and May 2024. Finally, 467 patients were included in the present study. Results: When applying the criteria of the US AUR, approximately 50% of patients with early AD were eligible to receive lecanemab treatment. Among the 467 included patients, 36.8% did not meet the inclusion criterion of a Mini-Mental State Examination (MMSE) score of ≥22. Conclusions Eligibility for lecanemab treatment was not restricted to Korean patients with early AD except for those with an MMSE score of ≥22. The MMSE criteria should therefore be reconsidered in areas with a higher proportion of older people, who tend to have lower levels of education.

Background/Aims: The Korean guidelines for Helicobacter pylori treatment were revised in 2020, however, the extent of adherence to these guidelines in clinical practice remains unclear. Herein, we initiated a prospective, nationwide, multicenter registry study in 2021 to evaluate the current management of H.pylori infection in Korea. Methods: This interim report describes the adherence to the revised guidelines and their impact on firstline eradication rates. Data on patient demographics, diagnoses, treatments, and eradication outcomes were collected using a web-based electronic case report form. Results: A total of 7,261 patients from 66 hospitals who received first-line treatment were analyzed.The modified intention-to-treat eradication rate for first-line treatment was 81.0%, with 80.4% of the prescriptions adhering to the revised guidelines. The most commonly prescribed regimen was the 14-day clarithromycin-based triple therapy (CTT; 42.0%), followed by tailored therapy (TT; 21.2%), 7-day CTT (14.1%), and 10-day concomitant therapy (CT; 10.1%). Time-trend analysis demonstrated significant increases in guideline adherence and the use of 10-day CT and TT, along with a decrease in the use of 7-day CTT (all p<0.001). Multivariate logistic regression analysis revealed that guideline adherence was significantly associated with first-line eradication success (odds ratio, 2.03; 95% confidence interval, 1.61 to 2.56; p<0.001). Conclusions The revised guidelines for the treatment of H. pylori infection have been increasingly adopted in routine clinical practice in Korea, which may have contributed to improved first-line eradication rates. Notably, the 14-day CTT, 10-day CT, and TT regimens are emerging as the preferred first-line treatment options among Korean physicians.

Although histone deacetylase 6 (HDAC6) is considered a therapeutic target for Alzheimer’s disease (AD), its role in cholinergic dysfunction in AD patients remains unclear. This study investigated the effects of (E)-3-(2-(4-fluorostyryl)thiazol-4-yl)-N-hydroxypropanamide (4-FHA), a new synthetic HDAC6 inhibitor, on cognitive and memory impairments in a scopolamine-induced-AD mouse model. Behaviorally, 4-FHA improved scopolamine-induced memory impairments in the Y-maze, passive avoidance, and Morris water maze tests. In addition, 4-FHA ameliorated scopolamine-induced cognitive impairments in the novel object recognition and place recognition tests. Furthermore, 4-FHA increased acetylation of α-tubulin (a major HDAC6 substrate); the expression of BDNF; and the phosphorylation of ERK 1/2, CREB, and ChAT in the hippocampus of scopolamine-treated mice. In summary, according to our data 4-FHA, an HDAC6 inhibitor, improved the cognitive and memory deficits of the AD mouse model by normalizing BDNF signaling and synaptic transmission, suggesting that 4-FHA might be a potential therapeutic candidate for AD.

Background/Aims: The Korean guidelines for Helicobacter pylori treatment were revised in 2020, however, the extent of adherence to these guidelines in clinical practice remains unclear. Herein, we initiated a prospective, nationwide, multicenter registry study in 2021 to evaluate the current management of H.pylori infection in Korea. Methods: This interim report describes the adherence to the revised guidelines and their impact on firstline eradication rates. Data on patient demographics, diagnoses, treatments, and eradication outcomes were collected using a web-based electronic case report form. Results: A total of 7,261 patients from 66 hospitals who received first-line treatment were analyzed.The modified intention-to-treat eradication rate for first-line treatment was 81.0%, with 80.4% of the prescriptions adhering to the revised guidelines. The most commonly prescribed regimen was the 14-day clarithromycin-based triple therapy (CTT; 42.0%), followed by tailored therapy (TT; 21.2%), 7-day CTT (14.1%), and 10-day concomitant therapy (CT; 10.1%). Time-trend analysis demonstrated significant increases in guideline adherence and the use of 10-day CT and TT, along with a decrease in the use of 7-day CTT (all p<0.001). Multivariate logistic regression analysis revealed that guideline adherence was significantly associated with first-line eradication success (odds ratio, 2.03; 95% confidence interval, 1.61 to 2.56; p<0.001). Conclusions The revised guidelines for the treatment of H. pylori infection have been increasingly adopted in routine clinical practice in Korea, which may have contributed to improved first-line eradication rates. Notably, the 14-day CTT, 10-day CT, and TT regimens are emerging as the preferred first-line treatment options among Korean physicians.

Background: The World Health Organization has declared the end of the coronavirus disease 2019 (COVID-19) public health emergency. However, this did not indicate the end of COVID-19. Several months after the infection, numerous patients complain of respiratory or nonspecific symptoms; this condition is called long COVID. Even patients with mild COVID-19 can experience long COVID, thus the burden of long COVID remains considerable. Therefore, we conducted this study to comprehensively analyze the effects of long COVID using multi-faceted assessments. Materials and Methods: We conducted a prospective cohort study involving patients diagnosed with COVID-19 between February 2020 and September 2021 in six tertiary hospitals in Korea. Patients were followed up at 1, 3, 6, 12, 18, and 24 months after discharge. Long COVID was defined as the persistence of three or more COVID-19-related symptoms. The primary outcome of this study was the prevalence of long COVID after the period of COVID-19. Results: During the study period, 290 patients were enrolled. Among them, 54.5 and 34.6% experienced long COVID within 6 months and after more than 18 months, respectively. Several patients showed abnormal results when tested for post-traumatic stress disorder (17.4%) and anxiety (31.9%) after 18 months. In patients who underwent follow-up chest computed tomography 18 months after COVID-19, abnormal findings remained at 51.9%. Males (odds ratio [OR], 0.17; 95% confidence interval [CI], 0.05–0.53; P=0.004) and elderly (OR, 1.04; 95% CI, 1.00–1.09; P=0.04) showed a significant association with long COVID after 12–18 months in a multivariable logistic regression analysis. Conclusion Many patients still showed long COVID after 18 months post SARS-CoV-2 infection. When managing these patients, the assessment of multiple aspects is necessary.