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.

Echinococcosis, caused by the tapeworm Echinococcus, is rare in Korea and is primarily imported from endemic areas. We report a case of a 37-year-old Korean man with multiple large hepatic cysts, initially diagnosed as simple cysts at a local clinic in 2018. The patient had lived in Oman, an endemic area, for several months in 2016. Upon referral to a tertiary hospital in 2023, due to progressive cyst enlargement, liver magnetic resonance imaging revealed three large cysts with a water lily sign. Serum IgG against Echinococcus was positive by enzyme-linked immunosorbent assay. After diagnosis of echinococcosis, treatment with albendazole and puncture-aspiration-injection-reaspiration (PAIR) was performed.Microscopic and molecular analysis of cyst aspirates confirmed Echinococcus granulosus infection. Follow-up computed tomography demonstrated a reduction in cyst size, yet the emergence of a new right pleural effusion and consolidation in the left lower lobe of the lung necessitated the continuation of albendazole therapy. This case highlights the importance of thorough travel history, imaging findings, and the effectiveness of PAIR combined with albendazole in treating imported echinococcosis.

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.

Purpose: Skeletal muscle atrophy, characterized by a reduction in muscle mass and size, is known to be associated with inflammation and oxidative stress. This study aimed to examine the effect of blackcurrant extract on tumor necrosis factor-alpha (TNF)-α-induced myotube atrophy. Methods: C2C12 myotubes were treated with blackcurrant extract and cultured with TNF-α for 24 hours. The myotubes were stained using May-Grunwald Giemsa staining to measure the myotube diameter. In addition, reactive oxygen species (ROS) levels were assessed.The mRNA expression of inflammation-related markers such as interleukin (IL)-6, IL-1β, cyclooxygenase-2 (COX-2), inducible NO synthase (iNOS), as well as mitochondria dynamicsrelated markers, including mitochondrial fission protein 1 (Fis1), optic atrophy 1 (Opa1) were measured by quantitative real-time polymerase chain reaction. The expression of muscle protein degradation markers, including muscle ring finger protein 1 (MuRF-1), atrogin-1, and forkhead box protein O3 (FoXO3), as well as mitochondrial biogenesis markers such as silent information regulator T1 (Sirt1) and peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PGC-1α), were assessed by western blot analysis. Results: Treatment with blackcurrant extract increased the myotube diameter, which was decreased in TNF-α-induced myotube atrophy. Treatment with TNF-α increased ROS levels and the expression of MuRF-1 and atrogin-1, and these increases were significantly inhibited by treatment with the blackcurrant extract. In contrast, the phosphorylation of FoXO3 was increased by the blackcurrant extract. Furthermore, the blackcurrant extract treatment decreased the mRNA expression of IL-6, IL-1β, COX-2, and iNOS elevated by TNF-α treatment. Additionally, blackcurrant extract treatment suppressed the expression of Fis1, while increasing the expression of Opa1, Sirt1, and PGC-1α. Conclusion These results suggest that blackcurrant extract reduces TNF-α-induced muscle protein degradation by the enhancement of mitochondrial biogenesis and mitochondrial dynamics. Thus, this study provides foundational data supporting the potential of blackcurrant extract as a functional ingredient for the prevention of muscle atrophy.

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.

Purpose: To evaluate the compatibility and usability of test results obtained from the IDRA and Keratograph 5M in clinical settings by comparing their performance in patients with dry eye disease. Methods: From December 27 to 30, 2022, a study was conducted on 30 patients diagnosed with dry eye utilizing both the Keratograph 5M and IDRA devices. The parameters compared and analyzed included lipid layer thickness, tear meniscus height, tear film break-up time, and meibography. A paired t-test was used for statistical comparison. The lipid layer thickness in the Keratograph 5M was graded on a scale from 0 to 4 based on thickness. Results: No significant differences were found between the two devices in tear film break-up time, tear meniscus height, and meibography (p = 0.148, 0.072, 0.124, respectively). However, the tear lipid layer thickness measured by IDRA showed a proportional relationship with the grade assigned by the Keratograph 5M (Kendall R = 0.217, p = 0.037; Spearman R = 0.260, p = 0.045). Conclusions The IDRA device offers the advantage of performing multiple dry eye tests; simultaneously, thereby saving time compared to the Keratograph 5M. Both devices can be used compatibly with IDRA particularly advantageous for providing a numerical value for tear lipid layer thickness which enhances the convenience of dry eye diagnosis and treatment.

The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.

Background: This study aimed to investigate the prevalence, management, and comorbidities of diabetes mellitus among Korean adults. Methods: Data from the Korea National Health and Nutrition Examination Survey (2019–2022) were analyzed to assess the prevalence, treatment, risk factors, and comorbidities of diabetes. Comparisons between young and older adults with diabetes were emphasized. Results: Among Korean adults aged ≥30 years, the prevalence of diabetes is 15.5% during 2021–2022. Of these, 74.7% were aware of their condition, 70.9% received antidiabetic treatment, and only 32.4% achieved glycosylated hemoglobin (HbA1c) <6.5%. Moreover, 15.9% met the integrated management targets, which included HbA1c <6.5%, blood pressure <140/85 mm Hg, and low-density lipoprotein cholesterol <100 mg/dL. In young adults aged 19 to 39 years, the prevalence of diabetes was 2.2%. Among them, 43.3% were aware of their condition, 34.6% received treatment, and 29.6% achieved HbA1c <6.5%. Obesity affected 87.1%, and 26.9% had both hypertension and hypercholesterolemia. Among adults aged ≥65 years, the prevalence of diabetes was 29.3%, with awareness, treatment, and control rates of 78.8%, 75.7%, and 31.2%, respectively. Integrated management targets (HbA1c <7.5%, hypertension, and lipids) were achieved by 40.1%. Conclusion Diabetes mellitus remains highly prevalent among Korean adults, with significant gaps in integrated glycemic, blood pressure, and lipid control. Older adults with diabetes show higher awareness and treatment rates but limited integrated management outcomes. Young adults with diabetes bear a significant burden of obesity and comorbidities, alongside low awareness and treatment rates. Therefore, early intervention programs, education, and strategies tailored to younger populations are urgently required.

Background: The novel sodium-glucose cotransporter-2 (SGLT2) inhibitor enavogliflozin effectively lowers glycosylated hemoglobin levels and body weights without the increased risk of serious adverse events; however, the long-term clinical benefits of enavogliflozin in terms of cardiovascular and renal outcomes have not been investigated. Methods: This study is an investigator-initiated, multicenter, randomized, pragmatic, open-label, active-controlled, non-inferiority trial. Eligible participants are adults (aged ≥19 years) with type 2 diabetes mellitus (T2DM) who have a history of, or are at risk of, cardiovascular disease. A total of 2,862 participants will be randomly assigned to receive either enavogliflozin or other SGLT2 inhibitors with proven cardiorenal benefits, such as dapagliflozin or empagliflozin. The primary endpoint is the time to the first occurrence of a composite of major adverse cardiovascular or renal events (Clinical Research Information Service registration number: KCT0009243). Conclusion This trial will determine whether enavogliflozin is non-inferior to dapagliflozin or empagliflozin in terms of cardiorenal outcomes in patients with T2DM and cardiovascular risk factors. This study will elucidate the role of enavogliflozin in preventing vascular complications in patients with T2DM.