Patients with ectodermal dysplasia often have atrophied alveolar bone and an inadequate maxillomandibular relationship owing to congenital edentulism.Accurate implant placement that can overcomes anatomical limitations and orthognathic surgery to improve the maxillomandibular relationship is necessary for creating implant-supported prosthesis for these patients. Implant placement and provisional prosthesis fabrication before orthognathic surgery can provide critical fixed reference points and ensure accuracy during orthognathic surgery.In our patient, a digital system was used to design a surgical guide that considered the predictable position of the definitive prosthesis, allowing the placement of implants to overcome anatomical limitations and the creation of fixed reference points via the delivery of a provisional prosthesis for effective orthognathic surgery. The lack of compensation during orthognathic surgery was considered in the definitive prosthesis. As a result, a prosthesis with a minimal anterior cantilever was fabricated. This study aimed to determine the appropriate sequence of multidisciplinary collaborations that would, result in the best functional and aesthetic outcomes.

Objective: This study aims to objectively evaluate turning gait parameters in Parkinson’s disease (PD) patients using 2D-RGB video-based analysis and explore their relationships with imbalance. Methods: We prospectively enrolled PD patients for clinical assessment, balance analysis and gait with 180º turning. Spatiotemporal gait parameters during turning were derived using video-based analysis and correlated with modified Hoehn and Yahr (mHY) stages and center of pressure (COP) oscillations. Results: A total of 64 PD patients were enrolled. The PD patients with higher mHY stages (≥2.5) had significantly longer turning times, greater numbers of steps, wider step bases and less variability in step length during turns. COP oscillations were positively correlated with the mean turning time on both the anterior-posterior and right-left axes. Conclusion Spatiotemporal gait parameter during turning, derived from video-based gait analysis, may represent apromising biomarker for monitoring postural instability in PD patients.

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: Pancreas transplantation (PT) is a definitive treatment for diabetes mellitus (DM), restoring endogenous insulin secretion and improving glycemic control. Despite its efficacy, PT is less common in South Korea compared to Western nations. This study aims to report the clinical outcomes of PT over 2 decades at a single center, focusing on surgical techniques, complications, and graft survival. Methods: A retrospective analysis of 69 PT recipients at Seoul National University Hospital between January 2002 and December 2023 was conducted. Data on recipient and donor demographics, surgical details, immunosuppressive regimens, and graft outcomes were collected. Graft survival was evaluated using Kaplan-Meier analysis, with subgroup comparisons using the log-rank test. Graft failure was defined as graft removal, PT re-registration, insulin dependence exceeding 0.5 units/kg/day for more than 90 days, or patient death. Results: Among the 69 recipients, 50 (72.5%) had type 1 DM, and 18 (26.1%) had type 2 DM. Simultaneous pancreaskidney (SPK) transplantations comprised 84.1% (n = 58), and pancreas-after-kidney (PAK) transplantations accounted for 10.1%. The 1-year and 5-year death-censored pancreas graft survival rates were 92.7% and 89.6%, respectively, with no significant difference between SPK and PAK (P = 0.330). Graft failure occurred in 10 patients, primarily due to pancreatitis and rejection. Donor-related factors, particularly anoxic brain injury, were significantly associated with lower graft survival (P = 0.045). Conclusion PT outcomes in this cohort align with international standards, emphasizing the importance of donor selection and tailored immunosuppression. Expanding PT indications to include selective type 2 DM patients could benefit South Korea’s PT programs with adequate resource allocation.

Patients with ectodermal dysplasia often have atrophied alveolar bone and an inadequate maxillomandibular relationship owing to congenital edentulism.Accurate implant placement that can overcomes anatomical limitations and orthognathic surgery to improve the maxillomandibular relationship is necessary for creating implant-supported prosthesis for these patients. Implant placement and provisional prosthesis fabrication before orthognathic surgery can provide critical fixed reference points and ensure accuracy during orthognathic surgery.In our patient, a digital system was used to design a surgical guide that considered the predictable position of the definitive prosthesis, allowing the placement of implants to overcome anatomical limitations and the creation of fixed reference points via the delivery of a provisional prosthesis for effective orthognathic surgery. The lack of compensation during orthognathic surgery was considered in the definitive prosthesis. As a result, a prosthesis with a minimal anterior cantilever was fabricated. This study aimed to determine the appropriate sequence of multidisciplinary collaborations that would, result in the best functional and aesthetic outcomes.

Patients with ectodermal dysplasia often have atrophied alveolar bone and an inadequate maxillomandibular relationship owing to congenital edentulism.Accurate implant placement that can overcomes anatomical limitations and orthognathic surgery to improve the maxillomandibular relationship is necessary for creating implant-supported prosthesis for these patients. Implant placement and provisional prosthesis fabrication before orthognathic surgery can provide critical fixed reference points and ensure accuracy during orthognathic surgery.In our patient, a digital system was used to design a surgical guide that considered the predictable position of the definitive prosthesis, allowing the placement of implants to overcome anatomical limitations and the creation of fixed reference points via the delivery of a provisional prosthesis for effective orthognathic surgery. The lack of compensation during orthognathic surgery was considered in the definitive prosthesis. As a result, a prosthesis with a minimal anterior cantilever was fabricated. This study aimed to determine the appropriate sequence of multidisciplinary collaborations that would, result in the best functional and aesthetic outcomes.

Background: and Purpose This study evaluated the diagnostic utility of an anti-signal-recognition particle 54 (anti-SRP54) antibody-based enzyme-linked immunosorbent assay (ELISA) as well as the clinical, serological, and pathological characteristics of patients with SRP immune-mediated necrotizing myopathy (IMNM). Methods: We evaluated 87 patients with idiopathic inflammatory myopathy and 107 healthy participants between January 2002 and December 2023. The sensitivity and specificity of the ELISA for anti-SRP54 antibodies were assessed, and the clinical profiles of patients with antiSRP54 antibodies were determined. Results: The ELISA for anti-SRP54 antibodies had a sensitivity and specificity of 88% and 99%, respectively, along with a test–retest reliability of 0.92 (p<0.001). The 32 patients diagnosed with anti-SRP IMNM using a line-blot immunoassay included 28 (88%) who tested positive for anti-SRP54 antibodies using the ELISA, comprising 12 (43%) males and 16 (57%) females whose median ages at symptom onset and diagnosis were 43.0 years and 43.5 years, respectively. Symptoms included proximal muscle weakness in all 28 (100%) patients, neck weakness in 9 (32%), myalgia in 15 (54%), dysphagia in 5 (18%), dyspnea in 4 (14%), dysarthria in 2 (7%), interstitial lung disease in 2 (7%), and myocarditis in 2 (7%). The median serum creatine kinase (CK) level was 7,261 U/L (interquartile range: 5,086–10,007 U/L), and the median anti-SRP54 antibody level was 2.0 U/mL (interquartile range: 1.0–5.6 U/mL). The serum CK level was significantly higher in patients with coexisting anti-Ro-52 antibodies. Conclusions This study has confirmed the reliability of the ELISA for anti-SRP54 antibodies and provided insights into the clinical, serological, and pathological characteristics of South Korean patients with anti-SRP IMNM.

Purpose: To evaluate the feasibility of robot-assisted ureteral reconstruction as a minimally invasive alternative to open surgery for managing ureteric complications in transplanted kidneys. Materials and Methods: From January 2020 to December 2023, robot-assisted ureteral reconstruction was performed on fifteen kidney transplant patients with vesicoureteral reflux (VUR) or ureteral stricture who had previously failed endoscopic treatments. Results: Twelve females and three males, with a mean age of 48.6±6.6 years, were included in the study. Nine patients (60.0%) underwent surgery due to VUR (grade III or higher) of the transplanted kidney, and six patients (40.0%) had transplanted ureteral strictures. Postoperative voiding cystourethrogram (VCUG) was performed at 3.2±1.6 months. Seven patients (77.8%) became VUR-free, while two patients (22.2%) had VUR regression from grade IV to I. All six patients who underwent reconstruction due to anastomosis site stricture became stenosis-free without the need for an indwelling ureteral catheter. In cases where the ureter was too short for reimplantation, a Boari flap or end-to-end anastomosis with the native ureter was performed. The mean hospital stay was 5.9±4.5 days. The urethral catheter was removed after 15.1±5.4 days, and the ureteral catheter was removed after 4.9±1.5 weeks. The mean follow-up period was 23.9±6.8 months, with no additional interventions required after surgery. No complications above Clavien-Dindo grade I were recorded. Conclusions Robotic ureteral reconstruction is technically feasible and offers an effective, minimally invasive treatment for ureteric complications in kidney transplant patients, serving as an alternative to open surgery.

Purpose: Pancreas transplantation (PT) is a definitive treatment for diabetes mellitus (DM), restoring endogenous insulin secretion and improving glycemic control. Despite its efficacy, PT is less common in South Korea compared to Western nations. This study aims to report the clinical outcomes of PT over 2 decades at a single center, focusing on surgical techniques, complications, and graft survival. Methods: A retrospective analysis of 69 PT recipients at Seoul National University Hospital between January 2002 and December 2023 was conducted. Data on recipient and donor demographics, surgical details, immunosuppressive regimens, and graft outcomes were collected. Graft survival was evaluated using Kaplan-Meier analysis, with subgroup comparisons using the log-rank test. Graft failure was defined as graft removal, PT re-registration, insulin dependence exceeding 0.5 units/kg/day for more than 90 days, or patient death. Results: Among the 69 recipients, 50 (72.5%) had type 1 DM, and 18 (26.1%) had type 2 DM. Simultaneous pancreaskidney (SPK) transplantations comprised 84.1% (n = 58), and pancreas-after-kidney (PAK) transplantations accounted for 10.1%. The 1-year and 5-year death-censored pancreas graft survival rates were 92.7% and 89.6%, respectively, with no significant difference between SPK and PAK (P = 0.330). Graft failure occurred in 10 patients, primarily due to pancreatitis and rejection. Donor-related factors, particularly anoxic brain injury, were significantly associated with lower graft survival (P = 0.045). Conclusion PT outcomes in this cohort align with international standards, emphasizing the importance of donor selection and tailored immunosuppression. Expanding PT indications to include selective type 2 DM patients could benefit South Korea’s PT programs with adequate resource allocation.

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.