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: To investigate the clinical characteristics of South Korean patients with pericentral retinitis pigmentosa (RP) and to identify clinical biomarkers associated with rapid visual acuity decline based on baseline factors. Methods: This retrospective study included 59 eyes of 31 patients diagnosed with pericentral RP. Comprehensive ophthalmological examinations and genetic sequencing were conducted to assess the baseline characteristics. For biomarker analysis, eyes were categorized into two groups based on the annual rate of change in visual acuity. The clinical findings of the two groups were evaluated to identify the biomarkers associated with rapid loss of visual acuity. Results: Patients with pericentral RP in this study exhibited a mean best-corrected visual acuity of 0.17 ± 0.23 in logarithm of the minimum angle of resolution. The visual field test showed annular or semicircular scotoma with relatively preserved periphery and 27 eyes (45.8%) exhibited no macular complications in optical coherence tomography. Genetic analysis identified genes associated with previous typical and pericentral RP studies but also highlighted that many genetic causes of pericentral RP remain unidentified. Of the 55 eyes for which the rate of visual acuity change could be estimated, 18 exhibited an annual decline of ≥10%, whereas 37 showed an annual decline of <10%. Male sex and prolonged b-wave latency on dark-adapted 0.01 electroretinogram correlated with rapid visual acuity decline in the multivariate analysis. Conclusions South Korean patients with pericentral RP exhibited a milder phenotype compared to typical RP patients reported in previous studies. Genetic analysis revealed heterogeneity, with mutations in some genes commonly associated with milder forms of RP. Male sex and prolonged b-wave latency on dark-adapted 0.01 electroretinogram were significant biomarkers for predicting rapid visual acuity decline. Monitoring initial b-wave latency is important for predicting visual decline, particularly in male patients with pericentral RP.

Background and Objectives: The aim of this study was to confirm the effect of intralesional triamcinolone acetonide injections (TRIAM) to treat granulomatous tissue surrounding the tracheostomy stoma.Subjects and Method We reviewed and documented the medical charts of 20 patients who were administered with TRIAM to treat granulomatous tissue surrounding the tracheostomy stoma from January 2018 to June 2019 were. The surface area of the granulomatous tissue was measured using Image J. The differences between the area of the granulomatous tissue after conventional treatment and after TRIAM on the same patient were compared. Results: A total of 20 patients consisting of 12 males and 8 females were included, with the patients’ average age being 60.0±14.3 years. The initial surface area of granulation tissue was 1.266±0.449 cm2, and 1.243±0.432 cm2 after conventional treatment, showing no statistically significant difference in the tissue area (p=0.143). The pre-injection surface area of granulation tissue was 1.243±0.432 cm2, and the area on the 7th day after the third injection was 0.477±0.217 cm2, showing a significant difference (p<0.001). Conclusion Compared to the conventional treatment, the surface area of granulomatous tissue surrounding the tracheostomy stoma significantly decreased after being treating with TRIAM. This finding suggests the effectiveness of TRIAM as a treatment of granulomatous tissue surrounding the tracheostomy stoma without complications such as bleeding.

It is difficult to determine a cause of bile duct stricture and dilatation. Eosinophilic cholangitis, a rare benign condition, may be one cause of bile duct stricture and dilatation. It can be evaluated using various methods of histopathology, radiographs, endoscopy, and hematologic findings. Treatment generally involves steroid therapy which can lead to improvement. This case report will discuss eosinophilic cholangitis, emphasizing that while it can easily be overlooked but should be considered in differential diagnoses.

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.

This study explores the development, roles, and key initiatives of the Regional Environmental Health Centers in Korea, detailing their evolution through four distinct phases and their impact on environmental health policy and local governance. It chronicles the establishment and transformation of these centers from their inception in May 2007, through four developmental stages. Originally named Environmental Disease Research Centers, they were subsequently renamed Environmental Health Centers following legislative changes. The analysis includes the expansion in the number of centers, the transfer of responsibilities to local governments, and the launch of significant projects such as the Korean Children’s Environmental Health Study (Ko-CHENS ). During the initial phase (May 2007–February 2009), the 10 centers concentrated on research-driven activities, shifting from a media-centered to a receptor-centered approach. In the second phase, prompted by the enactment of the Environmental Health Act, six additional centers were established, broadening their scope to address national environmental health issues. The third phase introduced Ko-CHENS, a 20-year national cohort project designed to influence environmental health policy by integrating research findings into policy frameworks. The fourth phase marked a decentralization of authority, empowering local governments and redefining the centers' roles to focus on regional environmental health challenges. The Regional Environmental Health Centers have significantly evolved and now play a crucial role in addressing local environmental health issues and supporting local government policies. Their capacity to adapt and respond to region-specific challenges is essential for the effective implementation of environmental health policies, reflecting geographical, socioeconomic, and demographic differences.

In general cases, tooth wear often requires no treatment, but severe wear exceeding physiological limits can lead to permanent occlusal disharmony and necessitate comprehensive restorative intervention. Patients with non-functional mandibular movements, such as bruxism, are at greater risk of early failure of restorations making careful management essential. In this case, a 50-year-old male patient with a history of severe nocturnal bruxism presented with significant tooth wear and an unstable maxillomandibular relationship, and after centric relation guidance and diagnostic wax-up evaluation, full-mouth rehabilitation was performed. To restore the morphology of the worn teeth and reposition the displaced mandible to a centric relation, the patient had 12 weeks of provisional restoration usage and successfully adapted to the altered vertical dimension and maxillomandibular relationship before the final prostheses were fabricated. The functionally generated path (FGP) technique was used to create metal occlusal surfaces for the upper posterior teeth, ensuring precise group function during eccentric movements and preventing further failure. The patient experienced improved comfort, function, and aesthetics, with stable occlusion and no complications during the 4-month follow-up period. Regular follow-up and protective measures, such as night guards, are recommended to ensure long-term success.