Purpose: Radio-Tartaglia syndrome (RTS; Mendelian Inheritance in Man [MIM]: 619312) is a rare neurodevelopmental disorder with few reported cases and limited research. It has recently been reported that the clinical features of RTS overlap with those of 1p36 deletion syndrome (1p36DS), a common chromosomal deletion characterized by clinical and molecular heterogeneity. This study aims to report on a Korean patient with RTS and compare the clinical and molecular features with those of patients with 1p36DS. Methods: A 3-year-old boy was brought to the hospital and underwent whole genome sequencing to evaluate developmental delay and multiple anomalies. This led to the identification of a de novo truncating variant in SPEN. We retrospectively investigated cases of 1p36DS that were either newly diagnosed at our institution or previously reported in the literature and databases. Results: The clinical profile of RTS includes developmental delay/intellectual disability, hypotonia, feeding difficulties, congenital heart defects, and facial dysmorphisms. SPEN is frequently found within the deleted region associated with 1p36DS. However, in all reported Korean cases of 1p36DS, the deletions were distal and did not involve SPEN; despite this, the clinical features of the disorder overlap considerably with those of RTS. Conclusion SPEN is a newly identified gene that plays a role in various developmental processes. Therefore, it is essential to include SPEN in genetic testing when diagnosing patients suspected of having a neurodevelopmental disorder. Additional research is required to explore the molecular and clinical features, as well as the prognosis, of patients with either an isolated SPEN mutation or one that co-occurs with 1p36DS.

Purpose: The purpose of this study was to develop an approach to alleviate the discomfort caused by sandbag compression after a bone marrow examination. This research examined the effects of applying a pressure hemostasis band on bleeding, pain, and discomfort at the bone marrow examination site. Methods: This study was conducted with a nonequivalent control group non-synchronized design. For 74 patients under evaluation who underwent bone marrow examination, sandbag compression was applied to the examination site in the control group (n=37), and a pressure hemostasis band was applied to the intervention group (n=37). In both groups, absolute bed rest was performed for two hours, and bleeding, pain, and discomfort at the examination site were measured. Results: After two hours of the bone marrow examination, there was no difference in bleeding on the gauze between the two groups (F=0.59, p=.444). Bleeding occurred in three patients in the intervention group and six in the control group (χ 2 =1.14, p=.479), with no cases of hematoma detected in either group. One hour post-examination, the control group experienced significantly higher pain (F=5.45, p=.022) and discomfort (F=5.68, p=.020) than the intervention group. However, pain and discomfort levels were similar between groups after two hours. Conclusion Compared to the sandbag compression group, the band application group showed no difference in bleeding and experienced less pain and discomfort at the examination site. This confirms that the pressure hemostasis band is a suitable alternative to sandbag compression in post-examination care.

Purpose: Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS. Materials and Methods: This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches. Results: TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making. Conclusion TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.

Purpose: Recent development in perioperative treatment of resectable non–small cell lung cancer (NSCLC) have changed the landscape of early lung cancer management. The ADAURA trial has demonstrated the efficacy of adjuvant osimertinib treatment in resectable NSCLC patients; however, studies are required to show which subgroup of patients are at a high risk of relapse and require adjuvant epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor treatment. This study evaluated risk factors for postoperative relapse among patients who underwent complete resection. Materials and Methods: Data were obtained from the Korean Association for Lung Cancer Registry (KALC-R), a database created using a retrospective sampling survey by the Korean Central Cancer Registry (KCCR) and the Lung Cancer Registration Committee. Results: A total of 3,176 patients who underwent curative resection was evaluated. The mean observation time was approximately 35.4 months. Among stage I to IIIA NSCLC patients, the EGFR-mutant subgroup included 867 patients, and 75.2%, 11.2%, and 11.8% were classified as stage I, stage II, and stage III, respectively. Within the EGFR-mutant subgroup, 44 (5.1%) and 121 (14.0%) patients showed early and late recurrence, respectively. Multivariate analysis on association with postoperative relapse among the EGFR-mutant subgroup showed that age, pathologic N and TNM stages, pleural invasion status, and surgery type were independent significant factors. Conclusion Among the population that underwent complete resection for early NSCLC with EGFR mutation, patients with advanced stage, pleural invasion, or limited resection are more likely to show postoperative relapse.

Purpose: To evaluate the differences in the level of concerns regarding exotropia surgery according to the perspectives regarding surgery and basic characteristics of parents of pediatric patients with intermittent exotropia in South Korea. Methods: This study included the parents of pediatric patients with intermittent exotropia who underwent surgery at five hospitals, between June 2022 and February 2023. Parental perspectives, basic characteristics, and levels of concern regarding surgery were assessed using a questionnaire. We investigated the differences in concern levels according to perspectives regarding surgery and basic characteristics among parents, such as sex, age, residential area, and the most influential factors in the decision-making for surgery. Results: A total of 266 parents were included (228 mothers; age, 40.0±4.7 years). Parents who chose surgery for subjective symptoms had higher levels of concern about hemorrhage, conjunctival redness, and persistent overcorrection than did those who chose surgery for cosmetic reasons (all p < 0.05). Fathers were more concerned about postoperative pain, compared to mothers (p = 0.039). Parents in their 40s and 50s had higher levels of concern about the hospital environment compared with those in their 20s and 30s (p = 0.003). Concern did not significantly differ by residential area. Conclusions The level of concern regarding surgery differed according to the perspectives and characteristics of the parents of pediatric patients with intermittent exotropia. Parents who chose surgery for subjective symptoms of exotropia had a higher level of concern than did those who chose surgery for cosmetic reasons. The concern level differed according to the parents’ sex and age but not their residential area.

Radiofrequency ablation (RFA) is a minimally invasive treatment modality used as an alternative to surgery in patients with benign thyroid nodules, recurrent thyroid cancers (RTCs), and primary thyroid microcarcinomas. The Korean Society of Thyroid Radiology (KSThR) initially developed recommendations for the optimal use of RFA for thyroid tumors in 2009 and revised them in 2012 and 2017. As new meaningful evidence has accumulated since 2017 and in response to a growing global interest in the use of RFA for treating malignant thyroid lesions, the task force committee members of the KSThR decided to update the guidelines on the use of RFA for the management of RTCs based on a comprehensive analysis of current literature and expert consensus.

Objective: To establish local diagnostic reference levels (DRLs) for pediatric neck CT based on age, weight, and water-equivalent diameter (WED) across multiple university hospitals in South Korea. Materials and Methods: This retrospective study analyzed pediatric neck CT examinations from nine university hospitals, involving patients aged 0–18 years. Data were categorized by age, weight, and WED, and radiation dose metrics, including volume CT dose index (CTDIvol) and dose length product, were recorded. Data retrieval and analysis were conducted using a commercially available dose-management system (Radimetrics, Bayer Healthcare). Local DRLs were established following the International Commission on Radiological Protection guidelines, using the 75th percentile as the reference value. Results: A total of 1159 CT examinations were analyzed, including 169 scans from Institution 1, 132 from Institution 2, 126 from Institution 3, 129 from Institution 4, 128 from Institution 5, 105 from Institution 6, 162 from Institution 7, 127 from Institution 8, and 81 from Institution 9. Radiation dose metrics increased with age, weight, and WED, showing significant variability both within and across institutions. For patients weighing less than 10 kg, the DRL for CTDIvol was 5.2 mGy. In the 10–19 kg group, the DRL was 5.8 mGy; in the 20–39 kg group, 7.6 mGy; in the 40–59 kg group, 11.0 mGy; and for patients weighing 60 kg or more, 16.2 mGy. DRLs for CTDIvol by age groups were as follows: 5.3 mGy for infants under 1 year, 5.7 mGy for children aged 1–4 years, 7.6 mGy for ages 5–9 years, 11.2 mGy for ages 10–14 years, and 15.6 mGy for patients 15 years or older. Conclusion Local DRLs for pediatric neck CT were established based on age, weight, and WED across nine university hospitals in South Korea.

Objective: To prospectively evaluate the effect of accelerated deep learning-based reconstruction (Accel-DL) on improving brain magnetic resonance imaging (MRI) quality and reducing scan time compared to that in conventional MRI. Materials and Methods: This study included 150 participants (51 male; mean age 57.3 ± 16.2 years). Each group of 50 participants was scanned using one of three 3T scanners from three different vendors. Conventional and Accel-DL MRI images were obtained from each participant and compared using 2D T1- and T2-weighted and 3D gradient-echo sequences. Accel-DL acquisition was achieved using optimized scan parameters to reduce the scan time, with the acquired images reconstructed using U-Net-based software to transform low-quality, undersampled k-space data into high-quality images. The scan times of Accel-DL and conventional MRI methods were compared. Four neuroradiologists assessed the overall image quality, structural delineation, and artifacts using Likert scale (5- and 3-point scales). Inter-reader agreement was assessed using Fleiss’ kappa coefficient. Signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) were calculated, and volumetric quantification of regional structures and white matter hyperintensities (WMHs) was performed. Results: Accel-DL showed a mean scan time reduction of 39.4% (range, 24.2%–51.3%). Accel-DL improved overall image quality (3.78 ± 0.71 vs. 3.36 ± 0.61, P < 0.001), structure delineation (2.47 ± 0.61 vs. 2.35 ± 0.62, P < 0.001), and artifacts (3.73 ± 0.72 vs. 3.71 ± 0.69, P = 0.016). Inter-reader agreement was fair to substantial (κ = 0.34–0.50). SNR and CNR increased in Accel-DL (82.0 ± 23.1 vs. 31.4 ± 10.8, P = 0.02; 12.4 ± 4.1 vs. 4.4 ± 11.2, P = 0.02). Bland-Altman plots revealed no significant differences in the volumetric measurements of 98.2% of the relevant regions, except in the deep gray matter, including the thalamus. Five of the six lesion categories showed no significant differences in WMH segmentation, except for leukocortical lesions (r = 0.64 ± 0.29). Conclusion Accel-DL substantially reduced the scan time and improved the quality of brain MRI in both spin-echo and gradientecho sequences without compromising volumetry, including lesion quantification.

Background/Aims: To determine the effectiveness of tyrosine kinase inhibitor (TKI) plus reduced-intensity therapy in adult patients with newly diagnosed Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph-positive ALL), this retrospective study compared treatment outcomes and induction mortality according to backbone regimen intensity. Methods: The data of 132 patients diagnosed with Ph-positive ALL were retrospectively collected from five centers. Patients received imatinib plus intensive chemotherapy (modified VPD, KALLA1407, or hyper-CVAD) or reduced-intensity chemotherapy (EWALL) for curative purposes. This study analyzed 117 patients, of which 35,22,46, and 14 received modified VPD, KALLA1407, hyper-CVAD, and EWALL, respectively. All patients used imatinib as a TKI. Results: The median age of the patients who received reduced-intensity chemotherapy was 64.4 years, while that of the patients with intensive regimens was 47.5 years. There was no induction death in the reduced-intensity group, while nine patients died in the intensive therapy group. Major molecular response achievement tended to be higher in the intensive chemotherapy group than in the reduced-intensity group. More patients in the intensive chemotherapy group received allogeneic stem cell transplantation (allo-SCT). There was no statistically significant difference in long-term survival between the two groups in terms of relapse-free survival and overall survival rates. Conclusions When imatinib plus reduced-intensity therapy was used as a frontline treatment, there was no inferiority in obtaining complete remission compared to imatinib plus intensive chemotherapy or significant difference in long-term survival. Since imatinib plus reduced-intensity therapy has limitations in obtaining a deep molecular response, proceeding to allo-SCT should be considered.