Polycystic kidney disease (PKD) typically manifests as genetic disease, which is commonly attributed to mutations in PKD genes. In this particular case, however, genetic analysis revealed that the patient’s PKD is linked to a novel, likely pathogenic variant (c.2184del; p.Thr729Leufs*88) in the oral-facial-digital syndrome type I (OFD1) gene. This is the first confirmed genetic diagnosis of mutations in the OFD1 gene in Korea. This investigation emphasizes the critical utility of panel sequencing of PKD in offering precise diagnosis and understanding the genetic profiles of PKD.

Purpose: To investigate ocular manifestation of immune reconstitution inflammatory syndrome (IRIS) in HIV patients after starting highly active antiretroviral therapy (HAART) and its relationship to T cell immunity. Methods: HIV patients with ocular IRIS after HAART were retrospectively reviewed. Clinical presentations with previous opportunistic infection, duration from initiation of HAART to IRIS, blood CD4+, CD8+ T cell count, and HIV RNA copies before HAART and at IRIS were analyzed. Results: Among 19 patients (27 eyes) included, the most common previous opportunistic infection was cytomegalovirus (17 patients, 89.5%) followed by tuberculosis choroiditis (2 patients, 10.5%). The clinical manifestations included vitritis (20 eyes, 74.0%), retinitis (14 eyes, 51.9%), and anterior uveitis (5 eyes, 18.5%). The median duration from initiation of HAART to IRIS was 70 days. CD4+ T cell count before HAART increased at IRIS (p < 0.001). CD8+ T cell count before HAART was negatively correlated with duration from HAART to IRIS (p < 0.001). The cutoff value of CD8+ T cell count for discerning early or late onset of ocular IRIS was 258/mm3 (p = 0.001). When divided into two groups by CD8+ T cell count of 258/mm3, 90% patients with CD8+ T cell count higher than 258/mm3 before HAART developed ocular IRIS within 70 days. Conclusions There was a negative relationship between CD8+ T cell count before HAART and duration from HAART to ocular IRIS. Ocular IRIS with higher CD8+ T cell count before HAART developed earlier after HAART initiation compared to those with lower CD8+ T cell count.

Purpose: To investigate the outcomes of brolucizumab reinjection after intraocular inflammation (IOI) development. Methods: This retrospective study analyzed patients with brolucizumab injections from April 2021 to January 2024. Patients who developed IOI after brolucizumab were included and categorized into subgroups depending on reinjection, discontinuation, and further IOI development. Results: A total of 472 eyes of 432 patients received brolucizumab injections. Thirty-eight cases developed IOI at least once, and 25 continued brolucizumab. Sixteen cases had no more IOI events, and nine experienced a second or more IOI events. Among the nine cases, three maintained brolucizumab injections despite IOI recurrence. The incidence of IOI was 8.1% based on the number of eyes (38 of 472 eyes) and 2.0% based on the number of brolucizumab injections (50 of 2,468 injections). The incidence of occlusive retinal vasculitis was 0.2% (1 of 472 eyes). The recurrence rate was 23.7% (9 of 38 eyes). The average number of injections between the first brolucizumab injection and the injection date on which IOI first developed was 2.15 times in the no-reinjection group, 3.44 times in the no-IOI-recurrence group, and 2.0 times in the second-IOI-episode group. Time to IOI occurrence in cases with first IOI episode was 18.60 ± 16.73 days, with 15 cases developing IOI within 1 week. Conclusions This study elucidates the real-world incidence of brolucizumab associated IOIs, with a description of information related to reinjections after the IOI episodes. A comprehensive understanding of brolucizumab reinjection is essential for its optimal utilization.

Ectopic thyroid is thyroid tissue found in places other than the anterolateral aspect of the second to fourth tracheal ring. Mediastinal ectopic thyroid is rare and only few cases have been reported. The authors experienced a case of 41-year-old female patient with an anterior neck mass. The patient had mild chest discomfort when breathing with no other symptoms. Imaging studies suggested tumor of thymic tissue origin and surgical excision was done. The mass was successfully removed and histopathologically determined to be thyroid tissue. We hereby report with a review of literature a case of ectopic thyroid found in the mediastinum, which was successfully removed by transcervical incision.

Background and Objectives: Metoclopramide is an antagonist of dopamine D2 receptor and is capable of alleviating chemotherapy-induced nausea and vomiting. However, its underlying mechanisms and function in improving the efficiency of chemotherapy are not fully understood. In this study, we investigated the sensitizing effect of metoclopramide on the platinum-based drugs-mediated apoptosis in human head and neck cancer cells.Subjects and Method Apoptosis was analyzed using a cell-based cytometer. The protein expression and messenger ribonucleic acid (mRNA) levels were assessed by Western blotting and real-time polymerase chain reaction, respectively. Results: Metoclopramide sensitized the platinum-based drug (cisplatin and oxaliplatin)-mediated apoptosis in AMC-HN4 cells, but not in normal cells. Mechanistically, we found that metoclopramide decreased Mcl-1 protein expression through post-translational regulation. Moreover, the overexpression of Mcl-1 prevented apoptosis by combined treatment of metoclopramide and platinum-based drugs. Conclusion Metoclopramide induced proteasome-mediated Mcl-1 downregulation, resulting in increased sensitivity to platinum-based drugs.

Lazertinib is an oral, third-generation, epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor (TKI) for the treatment of non-small cell lung cancer (NSCLC). This case report presents a rare instance of small cell carcinoma transformation in pancreatic metastasis in a patient with EGFR-mutated NSCLC undergoing treatment with lazertinib. Small cell carcinoma transformation indicates a mechanism of treatment resistance, and tissue biopsy is essential to confirm this. When isolated progression of a lesion is suspected during TKI therapy in EGFR-mutated NSCLC, histological evaluation is necessary to confirm the transformation for the treatment strategy.

Objective: To assess the performance of novel qualitative diagnostic criteria using dynamic contrast-enhanced (DCE) magnetic resonance imaging (MRI) to identify the pathologic complete response (pCR) of primary tumors in esophageal cancer after neoadjuvant chemoradiation (nCRT). Materials and Methods: Patients who underwent nCRT, subsequent MRI, positron emission tomography/computed tomography (PET/CT), endoscopy, or esophagectomy for esophageal cancer between October 2021 and October 2023 were retrospectively analyzed. The DCE-MRI response of primary tumors was interpreted using five grades by thoracic radiologists as follows: G1 (compatible with CR), G2 (probable CR), G3 (probable partial response [PR]), G4 (compatible with PR), and G5 (stable or progressive disease). The performances of MRI, PET/CT, endoscopy, and their combinations in diagnosing pCR in primary tumors were calculated. Results: A total of 52 patients (male:female, 46:6; age, 61.2 ± 8.0 years) were included. Surgical specimens revealed pCR (ypT0) in 34 patients. G1 as the MRI criterion for pCR of primary tumors yielded a positive predictive value (PPV), specificity of 100% (18/18), and low sensitivity (23.5% [8/34]). Combining G1 and G2 as the MRI criteria increased the sensitivity to 73.5% (25/34), with a specificity of 88.9% (16/18), accuracy of 78.8% (41/52), and PPV of 92.6% (25/27). Adding the DCEMRI results (G1-2) significantly improved accuracy for both PET/CT (from 65.4% [34/52] to 80.8% [42/52], P = 0.03) and endoscopy (from 55.8% [29/52] to 76.9% [40/52], P = 0.005), with increase in sensitivity (from 55.9% [19/34] to 82.4% [28/34] for PET/CT-based evaluation [P = 0.008] and from 47.1% [16/34] to 82.4% [28/34] for endoscopy-based evaluation [P = 0.001]). Conclusion DCE-MRI-based grading shows high diagnostic performance for identifying pCR in primary tumors, particularly in terms of PPV and specificity, and enhances response evaluation when combined with PET/CT and endoscopy.

Objective: To compare the quality of deep learning-reconstructed turbo spin-echo (DL-TSE) and conventionally interpolated turbo spin-echo (Conv-TSE) techniques in contrast-enhanced MRI of the neck. Materials and Methods: Contrast-enhanced T1-weighted DL-TSE and Conv-TSE images were acquired using 3T scanners from 106 patients. DL-TSE employed a closed-source, ‘work-in-progress’ (WIP No. 1062, iTSE, version 10; Siemens Healthineers) algorithm for interpolation and denoising to achieve the same in-plane resolution (axial: 0.26 x 0.26 mm 2 ; coronal: 0.29 x 0.29 mm 2 ) while reducing scan times by 15.9% and 52.6% for axial and coronal scans, respectively. The full width at half maximum (FWHM) and percent signal ghosting were measured using stationary and flow phantom scans, respectively. In patient images, non-uniformity (NU), contrast-to-noise ratio (CNR), and regional mucosal FWHM were evaluated. Two neuroradiologists visually rated the patient images for overall quality, sharpness, regional mucosal conspicuity, artifacts, and lesions using a 5-point Likert scale. Results: FWHM in the stationary phantom scan was consistently sharper in DL-TSE. The percent signal ghosting outside the flow phantom was lower in DL-TSE (0.06% vs. 0.14%) but higher within the phantom (8.92% vs. 1.75%) compared to ConvTSE. In patient scans, DL-TSE showed non-inferior NU and higher CNR. Regional mucosal FWHM was significantly better in DL-TSE, particularly in the oropharynx (coronal: 1.08 ± 0.31 vs. 1.52 ± 0.46 mm) and hypopharynx (coronal: 1.26 ± 0.35 vs. 1.91 ± 0.56 mm) (both P < 0.001). DL-TSE demonstrated higher overall image quality (axial: 4.61 ± 0.49 vs. 3.32 ± 0.54) and sharpness (axial: 4.40 ± 0.56 vs. 3.11 ± 0.53) (both P < 0.001). In addition, mucosal conspicuity was improved, especially in the oropharynx (axial: 4.41 ± 0.67 vs. 3.40 ± 0.69) and hypopharynx (axial: 4.45 ± 0.58 vs. 3.58 ± 0.63) (both P < 0.001).Extracorporeal ghost artifacts were reduced in DL-TSE (axial: 4.32 ± 0.60 vs. 3.90 ± 0.71, P < 0.001) but artifacts overlapping anatomical structures were slightly more pronounced (axial: 3.78 ± 0.74 vs. 3.95 ± 0.72, P < 0.001). Lesions were detected with higher confidence in DL-TSE. Conclusion DL-based reconstruction applied to accelerated neck MRI improves overall image quality, sharpness, mucosal conspicuity in motion-prone regions, and lesion detection confidence. Despite more pronounced ghost artifacts overlapping anatomical structures, DL-TSE enables substantial scan time reduction while enhancing diagnostic performance.

This paper describes the design, development, and implementation of a ubiquitous portfolio (u-portfolio) system aimed at enhancing clinical clerkship education at Inje University College of Medicine from 2016 to 2020. This developmental research employed involved a literature review of 69 papers on electronic portfolios (1990–2013), and as well as a series of focus group interviews and surveys with key stakeholders during the iterative design, evaluation, and revision process. The literature analysis revealed three main purposes of e-portfolios (learning, assessment, and showcase) and nine key elements for a multi-purpose e-portfolio (e.g., quality of student reflection, postgraduate continuous learning, and timely and frequent feedback). The system evolved from paper-based portfolios to address the standardization of students’ clerkship experiences across five teaching hospitals, incorporating competency-based education and enabling efficient data management to promote student learning, assessment, and feedback. Key challenges in transitioning from paper to electronic portfolios included infrastructure issues, user adaptation, and assessment standardization. The resulting u-portfolio system, which allowed the seamless integration of mobile devices, emphasized five core functions: enhanced real-time feedback, transparent evaluation with rubrics, improved reflection quality, real-time assessment and tracking, and mapping between learning and competency achievements. Initially implemented in the internal medicine clerkship in 2016, the system was gradually expanded to all core clerkships by 2018. The success of this system led to its adoption by 19 medical schools through a consortium organized by the Korea Association of Medical Colleges, with 31 schools now collaborating to enhance clerkships through the u-portfolio system.