Polycystic kidney disease (PKD) typically manifests as genetic disease, which is commonly attributed to mutations in PKD genes. In this particular case, however, genetic analysis revealed that the patient’s PKD is linked to a novel, likely pathogenic variant (c.2184del; p.Thr729Leufs*88) in the oral-facial-digital syndrome type I (OFD1) gene. This is the first confirmed genetic diagnosis of mutations in the OFD1 gene in Korea. This investigation emphasizes the critical utility of panel sequencing of PKD in offering precise diagnosis and understanding the genetic profiles of PKD.

Background: Carbapenem-resistant Acinetobacter baumannii (CRAB) represents a devastating and growing global threat, calling for new antibiotic treatments. In Korea, the challenge of treating CRAB is compounded by high nosocomial acquisition rates and limited availability of novel antibiotics. Minocycline, a semisynthetic tetracycline derivative, has been proposed as a therapeutic option for CRAB infections. Nonsusceptibility to minocycline may occur through the efflux pump, TetB. The prevalence of tetB in A. baumannii has increased, along with higher minocycline minimum inhibitory concentrations (MICs). We aimed to evaluate minocycline susceptibility rates in clinical strains of CRAB, and the association between tetB carriage and minocycline susceptibility across different genotypes. Materials and Methods: Representative CRAB blood isolates were collected from Asan Medical Center, Seoul.Minocycline susceptibility was assessed using the Clinical and Laboratory Standards Institute (CLSI) breakpoint (≤4 mg/L) and the proposed pharmacokinetics (PK)/pharmacodynamics (PD) breakpoint (≤1 mg/L). Tigecycline was used as a comparator, and its susceptibility breakpoint for Enterobacterales defined by EUCAST was applied (≤0.5 mg/L).The presence of tetB was detected by PCR, and multilocus sequence typing (MLST) was performed using seven housekeeping genes. Results: Of the 160 CRAB blood isolates, 83.8% were susceptible to minocycline by the CLSI criteria, and 50.6% were PK-PD susceptible by the PK-PD criteria. The minocycline minimum inhibitory concentration (MIC)50 /MIC90 was 1/8 mg/L. tetB was present in 49% of isolates and was associated with a higher minocycline MIC (MIC50/90 2/8 mg/L vs. 1/2 mg/L). No clear correlation was observed between tetB positivity and tigecycline MIC. Nine MLSTs were identified, with significant differences in tetB carriage rates between the major sequence types. Notably, ST191, associated with non-tetB carriage and greater susceptibility to minocycline, declined over the study period (P=0.004), while ST451, associated with tetB carriage, increased. Conclusion tetB was present in 49% of CRAB isolates and was associated with higher MICs and non-susceptibility by both CLSI and PK-PD criteria. However, absence of tetB was not a reliable predictor of minocycline PK-PD susceptibility. Additionally, shifts over time towards genotypes with reduced minocycline susceptibility were observed. Further research is needed to correlate these findings with clinical outcomes and identify additional resistance mechanisms.

Background and Objectives: Age-related hearing loss is a modifiable risk factor for mild cognitive impairment (MCI); however, the potential mechanisms linking these conditions remain unclear. Therefore, in this study, we analyzed the cognitive function profiles of elderly patients with hearing loss via functional near-infrared spectroscopy (fNIRS) to determine the cortical activity differences between patients at risk of MCI and those with normal cognition. Materials and Methods: Sixty-three elderly patients with bilateral, moderate, or severe hearing loss were prospectively recruited for this study. Their demographic information was obtained, and audiological evaluations and cognitive function tests were performed. Various instruments were used to assess the cognitive and depression domains. Additionally, fNIRS was used to image the brains of the normal group and group at risk of MCI. Results: fNIRS analysis of individual cognitive task data revealed that the normal group exhibited significantly higher oxygenated hemoglobin (HbO2) levels in all cognitive function tasks, except the Stroop color and word test, than the group at risk of MCI. Detailed comparisons of the Brodmann areas revealed that, compared to the group at risk of MCI, normal group exhibited significantly higher HbO2 levels in the right and left dorsolateral prefrontal cortices, ventrolateral prefrontal cortex, frontopolar cortex, and orbitofrontal cortex in the J1 task, right ventrolateral prefrontal cortex in the J2 task, and right orbitofrontal cortex in the J6 task. Conclusions Measurement of fNIRS signals in the frontal lobes revealed different HbO2 signals between the normal group and group at risk of MCI during minimal hearing loss. Future studies should explore the causal link between hearing loss and cognitive impairment by analyzing the changes in cognitive function after auditory rehabilitation.

Polycystic kidney disease (PKD) typically manifests as genetic disease, which is commonly attributed to mutations in PKD genes. In this particular case, however, genetic analysis revealed that the patient’s PKD is linked to a novel, likely pathogenic variant (c.2184del; p.Thr729Leufs*88) in the oral-facial-digital syndrome type I (OFD1) gene. This is the first confirmed genetic diagnosis of mutations in the OFD1 gene in Korea. This investigation emphasizes the critical utility of panel sequencing of PKD in offering precise diagnosis and understanding the genetic profiles of PKD.

Background and Objectives: Hearing loss significantly affects communication, psychosocial well-being, and quality of life. This study analyzes the National Health Insurance Service database to assess the trends and characteristics of hearing loss in South Korea from 2010 to 2020.Subjects and Method The database encompasses 97% of the Korean population, providing comprehensive data on medical history, prescriptions, and health examinations. The analysis used the World Health Organization’s ICD-10 definitions to categorize hearing loss types and examine their prevalence and incidence across various demographics over 11 years. Results: There was an overall annual increase of 4.62% in diagnosed cases of hearing loss, with the most significant rise among the elderly. The rate of increase accelerated from 3.32% between 2010 and 2014 to 6.49% between 2014 and 2020, corresponding with the improved hearing aid access facilitated by policy changes. Women showed a slightly higher increase than men. The data also indicated a consistent rise in abnormal hearing test results during health examinations, especially in older adults. Conclusion The study highlights an increasing trend in hearing loss diagnoses, driven by an aging population and enhanced detection facilitated by policy changes. These findings emphasize the need for continuous monitoring and targeted health policies to manage hearing loss effectively, offering valuable insights for global health management and policy development.

Background and Objectives: This study aims to analyze trends in hearing disability and the use of hearing rehabilitation devices (hearing aids and cochlear implants) in South Korea over the past 11 years (2010-2020) using data from the National Health Insurance Service (NHIS).Subjects and Method Data were extracted from the NHIS database, covering approximately 97% of the South Korean population. Patients diagnosed with hearing loss were classified using ICD-10 codes. The data were analyzed to determine trends in hearing disability, hearing aid prescriptions, and cochlear implant usage by age, gender, and types and causes of hearing loss. Results: The number of hearing disability patients increased from 170900 in 2010 to 362738 in 2020, with an annual growth rate of 7.95%. The highest increase was observed in the ≥60 age group, with an annual growth rate of 11.04%. Hearing aid prescriptions rose from 4966 in 2010 to 11974 in 2020, showing a 10.45% annual increase. Females showed a higher growth rate in both hearing disability and hearing aid prescriptions compared to males. Cochlear implant prescriptions also increased, particularly among older adults. Conclusion The study highlights a significant rise in hearing disability and the use of hearing aids and cochlear implants in South Korea, especially among the elderly. The findings underscore the importance of early diagnosis and intervention for hearing loss and the need for policy improvements to enhance accessibility and affordability of hearing rehabilitation services. Additional strategies are needed to ensure appropriate hearing rehabilitation for those not yet receiving adequate care.

Background: and Purpose This study was an open-label, dose-escalation, phase 1 clinical trial to determine the safety and dose of EN001 for patients with Duchenne muscular dystrophy (DMD). EN001, developed by ENCell, are allogeneic early-passage Wharton’s jelly-derived mesenchymal stem cells that originate at the umbilical cord, with preclinical studies demonstrating their high therapeutic efficacy for DMD. Methods: This phase 1 clinical trial explored the safety and tolerability of EN001 as a potential treatment option for patients with DMD. Six pediatric participants with DMD were divided into two subgroups of equal size: low-dose EN001 (5.0×105 cells/kg) and high-dose EN001 (2.5×106 cells/kg). All participants were monitored for 12 weeks after EN001 administration to assess its safety. Dose-limiting toxicity (DLT) was evaluated across 2 weeks post administration. Exploratory efficacy was evaluated by measuring serum creatine kinase levels, and functional evaluations—including spirometry, myometry, the North Star Ambulatory Assessment, and the 6-minute walk test—were conducted at week 12 and compared with the baseline values. Results: No participants experienced serious adverse events related to EN001 injection during the 12-week follow-up period. Mild adverse events included injection-related local erythema, edema, parosmia, and headache, but DLT was not observed. Functional evaluations at week 12 revealed no significant changes from baseline. Conclusions These results demonstrated that EN001 are safe and well tolerated for patients with DMD, and did not cause serious adverse events. The efficacy of EN001 could be confirmed through larger-scale future studies that incorporate repeated dosing and have a randomized controlled trial design.

Purpose: The purpose of this study was to explore and deeply understand the essential meaning of international students' healthcare management experiences in Korea. Methods: This study applied Colaizzi‘s phenomenological research method to identify the meanings and needs related to health care management experienced by international students during their academic stay in Korea. Data were collected through unstructured interviews, in which open-ended questions were asked to 12 international students. The interviews were conducted from May 10, 2024, to the end of July 2024, followed by an analysis based on Colaizzi’s six-step approach. The criteria set by Lincoln and Guba were used to enhance the reliability and validity of qualitative research. Results: Regarding the meaning of international students' healthcare management experiences in Korea, this study identified four categories, 11 themes, 27 sub-themes, and 108 significant statements. The four categories of international students' health care management experiences were: “neglecting health care management due to unresolved economic difficulties,” “choosing better healthcare management options than those in their home country,” “acquiring a new perspective on healthcare management during their stay in Korea,” and “suggesting directions for improvement and expectations based on their healthcare management experiences in Korea.” This study enabled an understanding of health management practices, with implications for ensuring the successful academic lives of international students. Conclusion This study implies that a deep understanding of international students' healthcare management experiences would contribute to the development of effective health promotion policies and programs for them in the future.

Background and Objectives: Hearing loss significantly affects communication, psychosocial well-being, and quality of life. This study analyzes the National Health Insurance Service database to assess the trends and characteristics of hearing loss in South Korea from 2010 to 2020.Subjects and Method The database encompasses 97% of the Korean population, providing comprehensive data on medical history, prescriptions, and health examinations. The analysis used the World Health Organization’s ICD-10 definitions to categorize hearing loss types and examine their prevalence and incidence across various demographics over 11 years. Results: There was an overall annual increase of 4.62% in diagnosed cases of hearing loss, with the most significant rise among the elderly. The rate of increase accelerated from 3.32% between 2010 and 2014 to 6.49% between 2014 and 2020, corresponding with the improved hearing aid access facilitated by policy changes. Women showed a slightly higher increase than men. The data also indicated a consistent rise in abnormal hearing test results during health examinations, especially in older adults. Conclusion The study highlights an increasing trend in hearing loss diagnoses, driven by an aging population and enhanced detection facilitated by policy changes. These findings emphasize the need for continuous monitoring and targeted health policies to manage hearing loss effectively, offering valuable insights for global health management and policy development.

Background and Objectives: This study aims to analyze trends in hearing disability and the use of hearing rehabilitation devices (hearing aids and cochlear implants) in South Korea over the past 11 years (2010-2020) using data from the National Health Insurance Service (NHIS).Subjects and Method Data were extracted from the NHIS database, covering approximately 97% of the South Korean population. Patients diagnosed with hearing loss were classified using ICD-10 codes. The data were analyzed to determine trends in hearing disability, hearing aid prescriptions, and cochlear implant usage by age, gender, and types and causes of hearing loss. Results: The number of hearing disability patients increased from 170900 in 2010 to 362738 in 2020, with an annual growth rate of 7.95%. The highest increase was observed in the ≥60 age group, with an annual growth rate of 11.04%. Hearing aid prescriptions rose from 4966 in 2010 to 11974 in 2020, showing a 10.45% annual increase. Females showed a higher growth rate in both hearing disability and hearing aid prescriptions compared to males. Cochlear implant prescriptions also increased, particularly among older adults. Conclusion The study highlights a significant rise in hearing disability and the use of hearing aids and cochlear implants in South Korea, especially among the elderly. The findings underscore the importance of early diagnosis and intervention for hearing loss and the need for policy improvements to enhance accessibility and affordability of hearing rehabilitation services. Additional strategies are needed to ensure appropriate hearing rehabilitation for those not yet receiving adequate care.