Background: Genetic neuromuscular diseases (NMDs) are a heterogeneous group of conditions that primarily affect the peripheral nerves, muscles, and neuromuscular junctions. This study was performed to identify pathogenic or likely pathogenic variants (PLPVs), calculate carrier frequencies, and predict the genetic prevalence of autosomal recessive-NMDs (AR-NMDs) in a Korean population. Methods: In total, 267 genes were associated with AR-NMDs. We analyzed genetic variants from 984 Korean whole genomes and identified PLPVs to assess the carrier frequency and genetic prevalence of the variants. Results: We identified 165 PLPVs, including 75 literature verified and 90 manually verified variants. Most PLPVs in AR-NMD genes were frameshifts (61, 37.0%), followed by nonsense (36, 21.8%), missense (35, 21.2%), and splice variants (28, 17.0%). The carrier frequency of the AR-NMDs was 27.1%. DYSF exhibited the highest carrier frequency (1.63%), followed by GAA (1.55%), HEXB (1.53%), PREPL (0.76%), NEB (0.66%), ADSS1 (0.65%), ALPK3 (0.65%), and CHRNG (0.65%). The predicted genetic prevalence of AR-NMDs in the Korean population was 38.0 cases per 100,000 individuals. DYSF (6.7 cases per 100,000 individuals) showed the highest genetic prevalence. The variant with the highest allele frequency was c.1250C>T in HEXB at 0.00764, followed by c.[752T>C; c.761C>T] in GAA at 0.00505, and c.2055+2T>G in DYSF at 0.00437. Conclusion Our study suggests that 27.1% of the Korean population are healthy carriers of at least one AR-NMD causing PLPV, revealing the genetic prevalence of NMDs in the Korean population.

This study explored the evolving trends in pediatric dentistry research, focusing on the changes in research trends in the Journal of the Korean Academy of Pediatric Dentistry (JKAPD) and comparing them with those in other international journals and previous studies. We selected the JKAPD (Korea), Pediatric Dentistry (PD, USA), European Archives of Paediatric Dentistry (EAPD, Europe), and The Japanese Journal of Pediatric Dentistry (JJPD, Japan) as subjects for this study, as each one is considered the core academic journals of the corresponding region. Data from the four journals were collected by reviewing articles published over 20 years from 2004 to 2023. Sixteen classification criteria were established, and 4,231 papers were assigned a classification number. This study included 1,205 studies from the JKAPD, 1,320 from the PD, 1,070 from the EAPD, and 636 from the JJPD. Publication trends were similar across the pediatric dental journals; however, the JJPD showed no correlation with other journals. Dental caries and prevention of dental caries were the most published topics in all journals (15.4%), followed by systemic diseases or patients with special health care needs (9.9%), conservative treatment and restorative materials (9.2%), and dental growth and developmental disturbances (8.8%). The thematic distribution of articles in the JKAPD observed in this study is consistent with that of previous studies. Although there were regional variations, the distribution of publication trends did not significantly change before or after the 21st century. This study offers valuable insights for comparing and analyzing trends in domestic and international research and providing an opportunity to examine which social and environmental changes have influenced these trends.

This study investigated the plaque removal efficacy of a suction-type sonic toothbrush compared to a conventional manual toothbrush in preschool children aged 30 to 59 months. Using a randomized, double-blind, crossover design with a 2-week washout period, 20 pediatric participants were allocated to two study phases, each using either the suction-type sonic toothbrush or the manual toothbrush with caregiver assistance. The plaque removal effectiveness was assessed through the Silness and Löe plaque index and quantitative light-induced fluorescence values, including ΔR30 and ΔR120 indicators of plaque index. The result showed no statistically significant differences in plaque removal efficacy between the two toothbrushes, although both showed similar improvements. Caregiver feedback revealed high acceptability of the suction-type sonic toothbrush due to its convenience and engaging features, such as a light and suction function, which enhanced the tooth brushing experience. Although limited by the short follow-up period and small sample size, the findings suggest that suction-type sonic toothbrushes may offer practical benefits for young children requiring caregiver assistance.

Background: Genetic neuromuscular diseases (NMDs) are a heterogeneous group of conditions that primarily affect the peripheral nerves, muscles, and neuromuscular junctions. This study was performed to identify pathogenic or likely pathogenic variants (PLPVs), calculate carrier frequencies, and predict the genetic prevalence of autosomal recessive-NMDs (AR-NMDs) in a Korean population. Methods: In total, 267 genes were associated with AR-NMDs. We analyzed genetic variants from 984 Korean whole genomes and identified PLPVs to assess the carrier frequency and genetic prevalence of the variants. Results: We identified 165 PLPVs, including 75 literature verified and 90 manually verified variants. Most PLPVs in AR-NMD genes were frameshifts (61, 37.0%), followed by nonsense (36, 21.8%), missense (35, 21.2%), and splice variants (28, 17.0%). The carrier frequency of the AR-NMDs was 27.1%. DYSF exhibited the highest carrier frequency (1.63%), followed by GAA (1.55%), HEXB (1.53%), PREPL (0.76%), NEB (0.66%), ADSS1 (0.65%), ALPK3 (0.65%), and CHRNG (0.65%). The predicted genetic prevalence of AR-NMDs in the Korean population was 38.0 cases per 100,000 individuals. DYSF (6.7 cases per 100,000 individuals) showed the highest genetic prevalence. The variant with the highest allele frequency was c.1250C>T in HEXB at 0.00764, followed by c.[752T>C; c.761C>T] in GAA at 0.00505, and c.2055+2T>G in DYSF at 0.00437. Conclusion Our study suggests that 27.1% of the Korean population are healthy carriers of at least one AR-NMD causing PLPV, revealing the genetic prevalence of NMDs in the Korean population.

This study explored the evolving trends in pediatric dentistry research, focusing on the changes in research trends in the Journal of the Korean Academy of Pediatric Dentistry (JKAPD) and comparing them with those in other international journals and previous studies. We selected the JKAPD (Korea), Pediatric Dentistry (PD, USA), European Archives of Paediatric Dentistry (EAPD, Europe), and The Japanese Journal of Pediatric Dentistry (JJPD, Japan) as subjects for this study, as each one is considered the core academic journals of the corresponding region. Data from the four journals were collected by reviewing articles published over 20 years from 2004 to 2023. Sixteen classification criteria were established, and 4,231 papers were assigned a classification number. This study included 1,205 studies from the JKAPD, 1,320 from the PD, 1,070 from the EAPD, and 636 from the JJPD. Publication trends were similar across the pediatric dental journals; however, the JJPD showed no correlation with other journals. Dental caries and prevention of dental caries were the most published topics in all journals (15.4%), followed by systemic diseases or patients with special health care needs (9.9%), conservative treatment and restorative materials (9.2%), and dental growth and developmental disturbances (8.8%). The thematic distribution of articles in the JKAPD observed in this study is consistent with that of previous studies. Although there were regional variations, the distribution of publication trends did not significantly change before or after the 21st century. This study offers valuable insights for comparing and analyzing trends in domestic and international research and providing an opportunity to examine which social and environmental changes have influenced these trends.

This study investigated the plaque removal efficacy of a suction-type sonic toothbrush compared to a conventional manual toothbrush in preschool children aged 30 to 59 months. Using a randomized, double-blind, crossover design with a 2-week washout period, 20 pediatric participants were allocated to two study phases, each using either the suction-type sonic toothbrush or the manual toothbrush with caregiver assistance. The plaque removal effectiveness was assessed through the Silness and Löe plaque index and quantitative light-induced fluorescence values, including ΔR30 and ΔR120 indicators of plaque index. The result showed no statistically significant differences in plaque removal efficacy between the two toothbrushes, although both showed similar improvements. Caregiver feedback revealed high acceptability of the suction-type sonic toothbrush due to its convenience and engaging features, such as a light and suction function, which enhanced the tooth brushing experience. Although limited by the short follow-up period and small sample size, the findings suggest that suction-type sonic toothbrushes may offer practical benefits for young children requiring caregiver assistance.

Objectives: The standard first-line treatment for Helicobacter pylori infection typically involves proton pump inhibitors, amoxicillin, and clarithromycin (PAC), yet the eradication success rates are not entirely satisfactory. Recognizing bismuth’s antibacterial properties and its potential to enhance antibiotic efficacy, this study compared the eradication success rates of a 7-day course of PAC with bismuth (PACB) versus PAC alone in patients with clarithromycin-susceptible H. pylori infections. Methods: We conducted a retrospective review at Eunpyeong St. Mary’s Hospital involving 499 patients with confirmed clarithromycin-susceptible H. pylori infection. These patients were treated either with PACB or PAC for 7 days. Clarithromycin resistance-associated point mutations were evaluated using reverse transcriptase polymerase chain reaction. Successful eradication was confirmed by a negative 13C-urea breath test. Results: Of the patients, 261 received PACB therapy, and 238 received PAC therapy. The intention-to-treat analysis showed eradication success rates of 82.8% (216/261) for PACB and 89.1% (212/238) for PAC (p=0.093). The per-protocol analysis revealed eradication rates of 85.3% (215/252) for PACB and 90.5% (210/232) for PAC (p=0.081). The incidence of adverse effects was similar between the two groups, with 41.3% (104/252) in the PACB group and 34.1% (79/232) in the PAC group (p=0.102). Conclusions Adding bismuth to the standard 7-day PAC regimen did not significantly increase eradication rates in patients with clarithromycin-susceptible H. pylori infections compared to PAC alone.

Background: Small cell lung cancer (SCLC) is called ‘smoker’s disease’ because it is strongly associated with smoking and most cases occur in smokers. However, it can also occur in never smokers. We investigated the clinical features of never smokers with SCLC and compared their treatment outcomes with those of smokers with SCLC. Methods: We retrospectively reviewed the clinical data of patients who had proven SCLC and had received chemotherapy at a single cancer center between July 2002 and April 2021. Results: Of 1,643 patients, 1,416 (86.2%) were enrolled in this study. A total of 162 (11.4%) and 1,254 (88.6%) patients were never smokers and smokers, respectively. There were more female never smokers than smokers (n=130; 80.2% vs. 79, 6.3%, p=0.000), and the incidence of ischemic heart disease was lower among never smokers than among smokers (4/1,416, [2.5%] vs. 83/1,416 [6.6%], p=0.036). Never smokers showed less symptoms at diagnosis than smokers (80.9% vs. 87.2%, p=0.037); however, they showed more toxicity after first-line treatment (61.7% vs. 47.8%, p=0.001). The objective response rate (ORR) was significantly higher in never smokers (74.1% vs. 59.6%, p=0.000). In the multivariate analysis, never smoking and second-line treatment were associated with a better ORR. However, progression-free survival and overall survival were not significantly different between never smokers and smokers. Conclusion In conclusion, never smokers accounted for 11.4% of patients with SCLC. They had distinguishing clinical characteristics and showed better chemotherapeutic responses than smokers.

Background: This study aimed to identify the clinical characteristics of multidrug-resistant/ rifampicin-resistant tuberculosis (MDR/RR-TB) in the Republic of Korea. Methods: Data of notified people with tuberculosis between July 2018 and December 2021 were retrieved from the Korea Tuberculosis Cohort database. MDR/RR-TB was further categorized according to isoniazid susceptibility as follows: multidrug-resistant tuberculosis (MDR-TB), rifampicin-monoresistant tuberculosis (RMR-TB), and RR-TB if susceptibility to isoniazid was unknown. Multivariable logistic regression analysis was conducted to identify the factors associated with MDR/RR-TB. Results: Between 2018 and 2021, the proportion of MDR/RR-TB cases among all TB cases and TB cases with known drug susceptibility test results was 2.1% (502/24,447). The proportions of MDR/RR-TB and MDR-TB cases among TB cases with known drug susceptibility test results were 3.3% (502/15,071) and 1.9% (292/15,071), respectively. Among all cases of rifampicin resistance, 31.7% (159/502) were RMR-TB and 10.2% (51/502) were RR-TB. Multivariable logistic regression analyses revealed that younger age, foreigners, and prior tuberculosis history were significantly associated with MDR/ RR-TB. Conclusion Rapid identification of rifampicin resistance targeting the high-risk populations, such as younger generations, foreign-born individuals, and previously treated patients are necessary for patient-centered care.

Background: The nipple is a potential source of pathogens because its lactiferous ducts act as direct conduits from the nipple–areolar complex to the breast parenchyma. Our previous studies identified breast microbiota as a factor in postoperative complications following immediate breast reconstruction using silicone implants and acellular dermal matrix. This study aimed to investigate the correlation between preoperative nipple swab microbiota and the incidence of surgical site infections (SSIs) after autologous breast reconstruction. Methods: We conducted a retrospective chart review of patients who underwent autologous breast reconstruction following total mastectomy. Preoperative nipple swab cultures were obtained. Patient demographics, surgical characteristics, and complication rates were compared between culture-positive and culture-negative groups. Microbiological data, including antibiotic‑resistance profiles, were collected. Results: Among 39 reconstructed breasts, 18 (46.9%) had positive preoperative nipple cultures. The mean duration of drain placement was significantly longer in the culture‑positive group (14.39±3.96 days) than in the culture‑negative group (12.14±2.76 days, P=0.045). Methicillin‑susceptible Staphylococcus epidermidis accounted for 55.0% of isolates. Of the four SSIs observed, three occurred in patients with positive preoperative cultures. Conclusions Although pathogen strains differed between preoperative and postoperative settings, obtaining preoperative nipple microflora cultures and determining antibiotic‑resistance profiles can guide immediate antibiotic selection for SSIs and enhance postoperative management.