Background: Because of the low prevalence of inherited retinal diseases, reports on the distribution of retinitis pigmentosa (RP)-related genes in Korean patients are scarce. The aim of this study was to determine the mutation spectrum and allele frequency and observe the final diagnoses in a Korean cohort clinically diagnosed with RP. Methods: We used whole-exome sequencing (WES) to analyze a Korean cohort of 100 unrelated patients clinically diagnosed with RP. The possible pathogenicity of each variant was assessed based on the guidelines of the American College of Medical Genetics and Genomics and Association for Molecular Pathology, in-silico prediction tools, known clinical phenotypes, and inheritance patterns. Results: Definite causative genes were detected in 60/100 patients (60.0%). Of these 60 cases, USH2A was the most common causative gene (14/60, 23.3%), followed by EYS (13/60, 21.7%) and RP1 (6/60, 10.0%). The clinical diagnosis was redefined in 9 of the 60 probands (15.0%) with causative genes after WES. Five of the 60 patients (8.3%) carried a causative variant in CHM, and the clinical diagnosis was redefined as choroideremia. Leber congenital amaurosis was diagnosed in 2/60 probands (3.3%), and RDH12 and RPGRIP1 were the causative genes in each patient. One patient (1/60, 1.7%) was diagnosed with Bietti’s crystalline dystrophy, with CYP4V2 identified as the causative gene. In another patient (1/60, 1.7%), ABCA4 variants were detected with clinical findings suggestive of cone-rod dystrophy. Conclusion This study reports the mutational spectrum of a cohort of Korean patients with a clinical diagnosis of RP who were referred for genetic testing. This study adds valuable data regarding the frequency of genes as well as their relation to the age of symptom onset and relation to other inherited retinal degenerations.

Irritable bowel syndrome (IBS) is a chronic, disabling, and functional bowel disorder that significantly affects social functioning and reduces quality of life and increases social costs. The Korean Society of Neurogastroenterology and Motility published clinical practice guidelines on the management of IBS based on a systematic review of the literature in 2017, and planned to revise these guidelines in light of new evidence on the pathophysiology, diagnosis, and management of IBS. The current revised version of the guidelines is consistent with the previous version and targets adults diagnosed with or suspected of having IBS. These guidelines were developed using a combination of de novo and adaptation methods, with analyses of existing guidelines and discussions within the committee, leading to the identification of key clinical questions. Finally, the guidelines consisted of 22 recommendations, including 3 concerning the definition and risk factors of IBS, 4 regarding diagnostic modalities and strategies, 2 regarding general management, and 13 regarding medical treatment. For each statement, the advantages, disadvantages, and precautions were thoroughly detailed. The modified Delphi method was used to achieve expert consensus to adopt the core recommendations of the guidelines. These guidelines serve as a reference for clinicians (including primary care physicians, general healthcare providers, medical students, residents, and other healthcare professionals) and patients, helping them to make informed decisions regarding IBS management.

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: Because of the low prevalence of inherited retinal diseases, reports on the distribution of retinitis pigmentosa (RP)-related genes in Korean patients are scarce. The aim of this study was to determine the mutation spectrum and allele frequency and observe the final diagnoses in a Korean cohort clinically diagnosed with RP. Methods: We used whole-exome sequencing (WES) to analyze a Korean cohort of 100 unrelated patients clinically diagnosed with RP. The possible pathogenicity of each variant was assessed based on the guidelines of the American College of Medical Genetics and Genomics and Association for Molecular Pathology, in-silico prediction tools, known clinical phenotypes, and inheritance patterns. Results: Definite causative genes were detected in 60/100 patients (60.0%). Of these 60 cases, USH2A was the most common causative gene (14/60, 23.3%), followed by EYS (13/60, 21.7%) and RP1 (6/60, 10.0%). The clinical diagnosis was redefined in 9 of the 60 probands (15.0%) with causative genes after WES. Five of the 60 patients (8.3%) carried a causative variant in CHM, and the clinical diagnosis was redefined as choroideremia. Leber congenital amaurosis was diagnosed in 2/60 probands (3.3%), and RDH12 and RPGRIP1 were the causative genes in each patient. One patient (1/60, 1.7%) was diagnosed with Bietti’s crystalline dystrophy, with CYP4V2 identified as the causative gene. In another patient (1/60, 1.7%), ABCA4 variants were detected with clinical findings suggestive of cone-rod dystrophy. Conclusion This study reports the mutational spectrum of a cohort of Korean patients with a clinical diagnosis of RP who were referred for genetic testing. This study adds valuable data regarding the frequency of genes as well as their relation to the age of symptom onset and relation to other inherited retinal degenerations.

Irritable bowel syndrome (IBS) is a chronic, disabling, and functional bowel disorder that significantly affects social functioning and reduces quality of life and increases social costs. The Korean Society of Neurogastroenterology and Motility published clinical practice guidelines on the management of IBS based on a systematic review of the literature in 2017, and planned to revise these guidelines in light of new evidence on the pathophysiology, diagnosis, and management of IBS. The current revised version of the guidelines is consistent with the previous version and targets adults diagnosed with or suspected of having IBS. These guidelines were developed using a combination of de novo and adaptation methods, with analyses of existing guidelines and discussions within the committee, leading to the identification of key clinical questions. Finally, the guidelines consisted of 22 recommendations, including 3 concerning the definition and risk factors of IBS, 4 regarding diagnostic modalities and strategies, 2 regarding general management, and 13 regarding medical treatment. For each statement, the advantages, disadvantages, and precautions were thoroughly detailed. The modified Delphi method was used to achieve expert consensus to adopt the core recommendations of the guidelines. These guidelines serve as a reference for clinicians (including primary care physicians, general healthcare providers, medical students, residents, and other healthcare professionals) and patients, helping them to make informed decisions regarding IBS management.

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 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.