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.

Background: The coronavirus disease 2019 (COVID-19) pandemic has significantly impacted global infrastructure. We surveyed laboratories to analyze the changes in testing methods and procedures to improve future pandemic preparedness. Methods: This study surveyed laboratory physicians and technologists in South Korea and analyzed responses from 126 of 323 institutions. The survey was conducted in May 2023 using the proficiency test of the Korean Association of External Quality Assessment Service and examined the diagnostic procedures, personnel, equipment, and quality control. The survey comprised 15 questions covering respondent demographics, public-private proficiency projects, COVID-19 testing procedures, and laboratory status. Results: Of the 126 laboratories, 66.7% performed bacterial smear and culture, 65.9% had biosafety level 2 facilities, and 39.7% had separate nucleic acid extraction areas. Furthermore, 98.4% of the laboratories had biological safety cabinets, the median number of PCR machines was four units, and 77.8% had autoclaves. The median numbers of personnel managing and conducting tests were one and three, respectively. Additionally, 88.1% of the laboratories found the COVID-19 proficiency test helpful, with key benefits in terms of accuracy and skill improvement. COVID-19 tests were primarily used for symptomatic or contact person testing, pre-admission screening, and periodic proactive testing. Specialized testing laboratories conducted up to 50,000 tests daily, and tertiary hospitals conducted up to 1,500 tests.Emergency, pooled, and rapid antigen tests were widely used. Most respondents wanted future tests for respiratory viruses, bacteria, and viral diarrhea, indicating a willingness to participate. Conclusion Aggressive testing and collaboration between health agencies and laboratories are crucial for managing emerging diseases. Systematic preparations are essential to maintain and strengthen laboratory capabilities for future infectious disease outbreaks.

The Korean Enhanced Recovery After Surgery (ERAS) Committee within the Korean Society of Surgical Metabolism and Nutrition was established to develop ERAS guidelines tailored to the Korean context. This guideline focuses on creating the most current evidence-based practice guidelines for ERAS purposes, based on systematic reviews. All key questions targeted randomized controlled trials exclusively, and if fewer than 2 were available, studies employing propensity score matching were also included. Recommendations for each key question were marked with strength of recommendation and level of evidence following internal and external review processes by the committee.

Background: A nationwide Rehabilitation at Home Care Pilot Program for patients undergoing lower extremity orthopedic surgeries has been ongoing since 2020. The program was designed to improve clinical outcomes through early mobilization and rehabilitation after discharge. This study aimed to analyze the interim data to assess its effectiveness and suggest improvements, particularly for older patients who are more vulnerable compared to younger patients. Methods: We analyzed the data of 872 patients from seven hospitals. Patients were divided into an older-age group (OG; ≥60 years) and younger-age group (YG; <60 years). The Berg Balance Scale (BBS) and Numeric Rating Scale (NRS) scores for pain were the main outcomes. Results: Participants were categorized into OG (n=801) and YG (n=71). The most common surgeries were knee joint replacement (63.7%) in OG and hip joint replacement in YG (77.5%). It took more days to enroll in the pilot program in OG (4.4 days) than YG (3.2 days). OG showed less improvement in BBS than YG for all surgeries (23.3 vs. 31.9) and hip joint surgery (19.8 vs. 33.5). In patients with hip joint replacement in OG, those with a higher number of comorbidities (≥3) showed less BBS improvement than those with fewer comorbidities (<3). In the pain domain, NRS scores decreased in both groups. Conclusion The postoperative rehabilitation education program appeared to be effective in improving physical function and reducing pain severity, though the improvement was less obvious in older patients who may require a more comprehensive approach compared to younger patients.

Background: s/Aims: Balancing surgical risks and benefits is crucial for managing non-functional pancreatic neuroendocrine tumors (NF-PNETs). Despite high postoperative pancreatic fistula (POPF) rates, studies on postoperative complications of sporadic NFPNETs are scarce. Thus, this study aimed to investigate postoperative complications and identify risk factors for POPF. Methods: A retrospective review of 166 NF-PNET surgeries performed at Severance Hospital between February 2000 and August 2023 was conducted. Results: Age > 65 years and higher American Society of Anesthesiology (ASA) grade were not significantly correlated with severe complications (odds ratio [OR]: 1.10, p = 0.871 and OR: 1.47, p = 0.491, respectively). Surgical procedures included enucleation (13.9%), distal pancreatectomy (50.0%), central pancreatectomy (4.8%), pancreaticoduodenectomy (PD) (26.5%), and total pancreatectomy (4.8%). Severe complications occurred in 12.05% of surgeries. The overall incidence of all POPFs including biochemical leaks was 53%, while clinically relevant POPF (grade B or C) occurred in 7.8% of patients. Logistic regression showed that PD (OR: 3.94, p = 0.092) tended to be risk factor for POPF and that diameter of the main pancreatic duct (MPD) ≤ 3 mm was a significant risk factor for POPF (OR: 0.22, p = 0.008). A pancreas thickness (PT)/MPD ratio > 4.47 on preoperative computed tomography predicted all POPFs in PD patients (OR: 11.70, p = 0.001). Conclusions Age and comorbidities had no significant impact on surgical outcomes. PD was associated with higher serious complications and POPF rates. The PT/MPD ratio is a valuable preoperative tool for predicting POPF risk in PD patients.

Purpose: There are limited data regarding changes in glucose control in pediatric patients with type 1 diabetes (T1D) affected by coronavirus disease 2019 (COVID-19). This study aimed to evaluate changes in the metrics of a continuous glucose monitoring (CGM) system during COVID-19 infection in children and adolescents with T1D. Methods: Eighteen patients with T1D (<18 years of age) were included in this retrospective study. The effects of COVID-19 on CGM metrics were assessed at 5 time points (2 weeks before COVID-19 [time 1], 1 week before COVID-19 [time 2], during COVID-19 [time 3], 1 week after COVID-19 [time 4], and 2 weeks after COVID-19 [time 5]). Results: All participants had at least 1 symptom of COVID-19 and did not need to be hospitalized. The glucose management indicator (GMI) was higher at time 3 (7.7%±1.4%) compared to time 1 (7.1%±1.1%; P=0.016) and time 5 (7.0%±1.2%; P=0.008). According to the insulin delivery method, the GMI at time 3 was significantly higher than that at time 5 in patients treated with multiple daily injections (MDI) (median and interquartile range, 8.0% [6.1%–8.5%] vs. 7.1% [5.8%–7.9%]; P=0.020) but not in those treated with continuous subcutaneous insulin infusion (CSII). Conclusion Pediatric patients with T1D and mild COVID-19 showed worsening glycemic control during COVID-19 infection, but it returned to preinfection levels within 2 weeks of infection. CSII is more effective in maintaining stable glycemic control during COVID-19 infection than is MDI therapy.

Purpose: Pancreatic cancer has a poor prognosis; however, the implementation of neoadjuvant treatment enables borderline resectable cases to undergo curative resection and improves the overall survival rate. Attempts have been made to expand the eligibility criteria for neoadjuvant treatment, even in resectable cases. Some studies have suggested a correlation between vein abutment and poor prognosis or that the abutment angle may affect prognosis. This study investigated the anatomical factors affecting the vessel abutment angle and its prognostic value in pancreatic cancer. Methods: Patients with pancreatic ductal adenocarcinoma who underwent surgery between 2012 and 2017 were included in this study. Patients who underwent neoadjuvant treatment were excluded. Data from only the intent-to-treat pancreaticoduodenectomy group were included in the analysis. Clinicopathological characteristics; preoperative factors such as CA 19-9, preoperative biliary drainage, American Society of Anesthesiologists physical status classification, portal vein/superior mesenteric vein contact angle measured via CT scan; and intraoperative factors were collected for analysis. Results: A total of 365 patients were included in this study, and the abutment group included 92 patients (25.2%). The abutment and no-contact groups did not show any significant differences in terms of the overall survival or diseasefree survival rate. Among the abutment groups, patients with less than 90° and 90°–180° did not show any significant differences. In the multivariate analysis, the only preoperative factor that had a prognostic effect was CA 19-9, a biological factor. Conclusion When there is no vessel invasion in the abutment group, upfront surgery should be considered because the angle does not affect the overall prognosis.

Purpose: Pancreatic ductal adenocarcinoma (PDAC) is a highly aggressive malignancy with a 5-year survival low of 2% in advanced cases. Despite being a fatal disease, there is a lack of a good predictor of prognosis which can aid in the management of patients. The tumor microenvironment of PDAC, including immune cells, plays a vital role in the progression and invasiveness of PDAC. Cluster of differentiation 47 (CD47) which has a “don’t eat me signal” to macrophages through receptor signal regulatory protein alpha, prevents immune cell surveillance of cancer cells. This contributes to the immune escape and invasiveness of cancer. Methods: We obtained pancreatic cancer tissue microarray samples from 98 patients treated in Hanyang University Hospital. The diagnosis was proven by a tissue biopsy obtained after surgical resection. Immunohistochemical staining was done using CD47 antibody. Data was analyzed using R software ver. 4.3.3. Results: In a study of 98 patients with PDAC, CD47 expression (54.1%) was significantly correlated with advanced disease stage. Positive CD47 expression was associated with lower overall survival (P = 0.028) and disease-free survival (P = 0.005) in all patients. In advanced-stage patients, CD47 remained a predictor of lower overall survival (P = 0.012) and diseasefree survival (P = 0.023). Multivariate analysis identified positive CD47 expression as an independent factor affecting overall survival (P = 0.048). These results emphasize CD47’s prognostic relevance in PDAC, particularly in advanced stages. Conclusion Positive CD47 expression in PDAC indicates an advanced stage of the disease and independently predicts poor outcomes. This highlights CD47’s role as a crucial prognostic marker in advanced PDAC stages.