Background: Sanger sequencing is a technology used to identify the gene sequence variants causing rare genetic disorders. However, designing and implementing a proficiency scheme for Sanger sequencing-based genetic testing is challenging because many molecular diagnostic laboratories are running sequencing tests for tens to hundreds of target genes. As such, we aimed to design and implement a method-based proficiency testing (PT) method for Sanger sequencing and to assess its feasibility in Korea. Methods: A pathogenic low density lipoprotein receptor (LDLR) variant was chosen as the positive PT material, and material without an LDLR variant was used as the negative PT material. We distributed the two PT materials with primer pair sets to 17 molecular diagnostic laboratories nationwide.We calculated the correct results (%) for variation type, zygosity, nucleotide change, amino acid change, variant classification, and clinical interpretation. Results: Fourteen laboratories responded to the survey. The results for the two PT materials were 100% correct for all evaluation points including variant type, zygosity, nucleotide change, amino acid change, variant classification, and clinical interpretation. Conclusions This pilot PT survey demonstrates a feasibility of using method-based PT for assessing the Sanger sequencing performance of molecular diagnostic laboratories in Korea.

Purpose: This study compared the treatment outcomes between fixation using screws and suture buttons for addressing distal tibiofibular syndesmosis diastasis combined with ankle fractures. Materials and Methods: A retrospective study was conducted involving 20 patients with ankle fractures treated with screws and 21 patients treated with suture buttons for distal tibiofibular syndesmosis diastasis. The postoperative clinical outcomes were assessed using the American Orthopedic Foot and Ankle Society (AOFAS) score, while the radiological outcomes were determined by measuring the tibiofibular clear space, tibiofibular overlap, and medial clear space on the pre- and post-operative radiographs. In addition, factors such as the need for internal fixation removal surgery and the incidence of internal fixation damage were investigated. Results: One-year post-surgery, the average AOFAS score showed no significant difference between the screw and suture button surgery groups. Initially, measurements of the tibiofibular clear space, tibiofibular overlap, and medial clear space did not exhibit significant differences between the two groups. On the other hand, significant differences were observed one-year post-surgery. All patients in the screw surgery group underwent screw removal surgery. Within this group, two cases of screw breakage and one case of surgical wound infection were recorded. Conclusion When treating distal tibiofibular syndesmosis diastasis, the screw surgery group and the suture button surgery group showed similar clinical outcomes measured by AOFAS one year after surgery, but the suture button surgery group had better results in radiological evaluation and complication frequency.

Purpose: This study compared the treatment outcomes between fixation using screws and suture buttons for addressing distal tibiofibular syndesmosis diastasis combined with ankle fractures. Materials and Methods: A retrospective study was conducted involving 20 patients with ankle fractures treated with screws and 21 patients treated with suture buttons for distal tibiofibular syndesmosis diastasis. The postoperative clinical outcomes were assessed using the American Orthopedic Foot and Ankle Society (AOFAS) score, while the radiological outcomes were determined by measuring the tibiofibular clear space, tibiofibular overlap, and medial clear space on the pre- and post-operative radiographs. In addition, factors such as the need for internal fixation removal surgery and the incidence of internal fixation damage were investigated. Results: One-year post-surgery, the average AOFAS score showed no significant difference between the screw and suture button surgery groups. Initially, measurements of the tibiofibular clear space, tibiofibular overlap, and medial clear space did not exhibit significant differences between the two groups. On the other hand, significant differences were observed one-year post-surgery. All patients in the screw surgery group underwent screw removal surgery. Within this group, two cases of screw breakage and one case of surgical wound infection were recorded. Conclusion When treating distal tibiofibular syndesmosis diastasis, the screw surgery group and the suture button surgery group showed similar clinical outcomes measured by AOFAS one year after surgery, but the suture button surgery group had better results in radiological evaluation and complication frequency.

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: Sanger sequencing is a technology used to identify the gene sequence variants causing rare genetic disorders. However, designing and implementing a proficiency scheme for Sanger sequencing-based genetic testing is challenging because many molecular diagnostic laboratories are running sequencing tests for tens to hundreds of target genes. As such, we aimed to design and implement a method-based proficiency testing (PT) method for Sanger sequencing and to assess its feasibility in Korea. Methods: A pathogenic low density lipoprotein receptor (LDLR) variant was chosen as the positive PT material, and material without an LDLR variant was used as the negative PT material. We distributed the two PT materials with primer pair sets to 17 molecular diagnostic laboratories nationwide.We calculated the correct results (%) for variation type, zygosity, nucleotide change, amino acid change, variant classification, and clinical interpretation. Results: Fourteen laboratories responded to the survey. The results for the two PT materials were 100% correct for all evaluation points including variant type, zygosity, nucleotide change, amino acid change, variant classification, and clinical interpretation. Conclusions This pilot PT survey demonstrates a feasibility of using method-based PT for assessing the Sanger sequencing performance of molecular diagnostic laboratories in Korea.

Objective: This study aims to investigate may moesin deficiency resulted in neurodevelopmental abnormalities caused by negative impact on synaptic signaling ultimately leading to synaptic structure and plasticity. Methods: Behavioral assessments measured neurodevelopment (surface righting, negative geotaxis, cliff avoidance), anxiety (open field test, elevated plus maze test), and memory (passive avoidance test, Y-maze test) in moesin-knockout mice (KO) compared to wild-type mice (WT). Whole exome sequencing (WES) of brain (KO vs. WT) and analysis of synaptic proteins were performed to determine the disruption of signal pathways downstream of moesin. Risperidone, a therapeutic agent, was utilized to reverse the neurodevelopmental aberrance in moesin KO. Results: Moesin-KO pups exhibited decrease in the surface righting ability on postnatal day 7 (p<0.05) and increase in time spent in the closed arms (p<0.01), showing increased anxiety-like behavior. WES revealed mutations in pathway aberration in neuron projection, actin filament-based processes, and neuronal migration in KO. Decreased cell viability (p<0.001) and expression of soluble NSF adapter protein 25 (SNAP25) (p<0.001) and postsynaptic density protein 95 (PSD95) (p<0.01) was observed in days in vitro 7 neurons. Downregulation of synaptic proteins, and altered phosphorylation levels of Synapsin I, mammalian uncoordinated 18 (MUNC18), extracellular signal-regulated kinase (ERK), and cAMP response element-binding protein (CREB) was observed in KO cortex and hippocampus. Risperidone reversed the memory impairment in the passive avoidance test and the spontaneous alternation percentage in the Y maze test. Risperidone also restored the reduced expression of PSD95 (p<0.01) and the phosphorylation of Synapsin at Ser605 (p<0.05) and Ser549 (p<0.001) in the cortex of moesin-KO. Conclusion Moesin deficiency leads to neurodevelopmental delay and memory decline, which may be caused through altered regulation in synaptic proteins and function.

Background/Aims: Tracheostomy is a crucial intervention for severe pneumonia patients requiring prolonged mechanical ventilation (MV). However, debate persists regarding the influence of tracheostomy timing and performance on long-term survival outcomes. This study utilized propensity score matching to assess the impact of tracheostomy timing and performance on patient survival outcomes. Methods: A retrospective observational study employing propensity score matching was conducted of respiratory intensive care unit (ICU) patients who underwent prolonged acute MV due to severe pneumonia from 2008 to 2023. The primary outcome was the 90-day cumulative mortality rate, with secondary outcomes including ICU medical resource utilization rates. Results: Out of 1,078 patients, 545 underwent tracheostomy with a median timing of 7 days. The tracheostomy group exhibited lower 90-day cumulative mortality and a higher survival probability (hazard ratio [HR] 0.52, 95% confidence interval [CI] 0.43–0.63) than the no-tracheostomy group. The tracheostomy group had higher ICU medical resource utilization rates and medical expenditures. The early tracheostomy group (≤ 7 days) had lower ICU medical resource utilization rates and medical expenditures than the late tracheostomy group (> 7 days). However, there were no significant differences in the 90-day cumulative mortality rate and survival probability based on tracheostomy timing (HR 0.94, 95% CI 0.70–1.28). Conclusions Tracheostomy in patients with severe pneumonia requiring prolonged MV significantly reduced the 90-day mortality rate, and early tracheostomy may offer additional benefits for resource utilization efficiency. These findings underscore the importance of considering tracheostomy timing in optimizing patient outcomes and healthcare resource allocation.

There are sex-related differences in the pathophysiology and phenotype of heart failure (HF) as well as the pharmacokinetics and pharmacodynamics of drugs between women and men due to biological differences, such as heart and vessel size, response to blood volume and pressure, body water and muscle compositions, and dominant sex hormones. Therefore, target drug doses required to achieve the same clinical effect differ between the sexes, while there may also be sex-related differences in side effects of a given drug at the same dose. These biological differences have been reflected in the results of clinical trials. Moreover, women have been underrepresented in pharmacological therapy trials as well as having lower device implantation rates than men. Therefore, the currently recommended target doses of medications based on clinical trials may not be appropriate for women. Although guidelines for HF have been standardized since the last major revision in 2021, most do not differentiate by sex. This review focuses on evidence regarding sex-related differences in multiple aspects of HF, including epidemiology, pathophysiology, clinical features, treatment, and prognosis, highlighting the need for sex-specific treatment guidelines.

Objective: This study aimed to investigate the prevalence and characteristics of impacted teeth (ITs) in orthodontic patients at university dental hospitals in Korea. Methods: This study included 14,774 patients who visited the Department of Orthodontics at 10 university dental hospitals in Korea between 2020 and 2022 and underwent orthodontic diagnosis. The prevalence and characteristics of ITs were investigated using orthodontic diagnostic records, radiographs, and diagnostic casts. Results: The prevalence of ITs, excluding third molar impaction, in Korean orthodontic patients was 13.6% (n = 2,014).The prevalence of ITs in pediatric orthodontic patients was 24.5% (n = 1,614).Of these patients, 68.2% had one IT, 27.5% had two ITs, 24.3% had bilateral IT, and 75.7% had unilateral IT. The most frequent IT was the maxillary canine (50.1%), followed by the mandibular second molar (11.7%), and maxillary second premolar (9.6%). An abnormal eruption path (46.5%) was the most frequent etiology. Orthodontic traction after surgical exposure (70.6%) was the most frequent treatment option. Among the patients with ITs, 29.8% had other dental anomalies, such as tooth agenesis (8.7%), microdontia (8.0%), and supernumerary teeth (5.1%). Furthermore, 50.8% had complications such as cystic lesions (18.3%), transposition (17.7%), and root resorption (14.8%).Among the patients with maxillary canine impaction, 62.2% had labial maxillary canine impaction and 21.1% had palatal maxillary canine impaction. Conclusions The prevalence of ITs in Korean orthodontic patients at university dental hospitals was high, particularly in pediatric orthodontic patients.