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 evaluate the relationship between distal fusion level in correction and fusion surgery for adolescent idiopathic scoliosis (AIS) and radiologic changes in the sacroiliac (SI) joint. Materials and Methods: This retrospective cohort study evaluated patients who underwent correction and fusion for AIS between 2005 and 2017 with at least 5 years of follow-up. We categorized patients into two groups: Group 1 (distal fusion above L2, 74 patients) and Group 2 (distal fusion at L3 and below, 52 patients). Radiologic parameters and SI joint changes were evaluated on plain radiographs obtained from preoperative to 5 years postoperatively. We also investigated other risk factors for SI joint change. Results: Analysis of demographic factors revealed no significant difference between the two groups. There was a significant difference in the incidence of SI joint change between Group 1 (5 patients, 6.75%) and Group 2 (18 patients, 34.61%), with Group 2 showing a faster increase in incidence according to the Kaplan-Meier method (p<0.0001). Preoperative lumbar lordosis (LL) and ΔLL had a significant relationship with SI joint changes [preoperative LL, hazard ratio (HR)=0.77, 95% confidence interval (CI)=0.64– 0.93, p=0.008; ΔLL, HR=0.79, 95% CI=0.67–0.95, p=0.01). Conclusion After AIS surgery, patients who had fusion to the lower lumbar vertebrae (L3 or L4) experienced a higher incidence and faster progression of degenerative changes in the SI joint. Low preoperative LL and inadequate correction of LL during the operation were also risk factors for SI joint degeneration.

Background: and Purpose Previous research on patients with acute ischemic stroke (AIS) has shown a 0.5% incidence of major gastrointestinal bleeding (GIB) requiring blood transfusion during hospitalization. The existing literature has insufficiently explored the long-term incidence in this population despite the decremental impact of GIB on stroke outcomes. Methods: We analyzed the data from a cohort of patients with AIS admitted to 14 hospitals as part of a nationwide multicenter prospective stroke registry between 2011 and 2013. These patients were followed up for up to 6 years. The occurrence of major GIB events, defined as GIB necessitating at least two units of blood transfusion, was tracked using the National Health Insurance Service claims data. Results: Among 10,818 patients with AIS (male, 59%; mean age, 68±13 years), 947 (8.8%) experienced 1,224 episodes of major GIB over a median follow-up duration of 3.1 years. Remarkably, 20% of 947 patients experienced multiple episodes of major GIB. The incidence peaked in the first month after AIS, reaching 19.2 per 100 person-years, and gradually decreased to approximately one-sixth of this rate by the 2nd year with subsequent stabilization. Multivariable analysis identified the following predictors of major GIB: anemia, estimated glomerular filtration rate <60 mL/min/1.73 m2 , and a 3-month modified Rankin Scale score of ≥4. Conclusion Patients with AIS are susceptible to major GIB, particularly in the first month after the onset of AIS, with the risk decreasing thereafter. Implementing preventive strategies may be important, especially for patients with anemia and impaired renal function at stroke onset and those with a disabling stroke.

Objective: : In degenerative lumbar spondylolisthesis, interbody fusion surgery (IFS) has long been recommended as the gold standard of surgical management. However, IFS is less recommended for high-risk patients such as the elderly because it involves extensive surgery, with a long operation time and high volumes of blood loss, which lead to marked perioperative morbidity. We report an alternative primary and salvage treatment technique for high-risk lumbar spondylolisthesis through posterior lumbar element reinforcement using interspinous fixation and decompression alone without interbody fusion. Methods: : Plain radiographs, computed tomography scans, and magnetic resonance imaging, taken at different intervals, were used to measure local disc height (DH), vertebral body slippage (BS), and segmental motion angle (SMA). A Visual analogue scale and the Oswestry disability index (ODI) were applied pre-operation and at the last follow-up. Results: : The local SMA decreased significantly by 3.46°±3.07°, from 10.61°±3.42° preoperatively to 7.15±3.70 at the last follow-up (p<0.001). The DH decreased from 8.61±2.88 mm preoperatively to 8.41±2.48 mm at the last follow-up (p=0.074). The BS decreased from 3.49±4.29 mm preoperatively to 3.41±4.91 mm at the last follow-up (p=0.092). None of the patients reported worsening pain or an increased ODI after surgery, and there were no surgery-related complications. Conclusion : Posterior lumbar element reinforcement by decompression alone with SPIRE™ fixation is an alternative primary and salvage treatment option for select patients with spondylolisthesis.

Objective: : In degenerative lumbar spondylolisthesis, interbody fusion surgery (IFS) has long been recommended as the gold standard of surgical management. However, IFS is less recommended for high-risk patients such as the elderly because it involves extensive surgery, with a long operation time and high volumes of blood loss, which lead to marked perioperative morbidity. We report an alternative primary and salvage treatment technique for high-risk lumbar spondylolisthesis through posterior lumbar element reinforcement using interspinous fixation and decompression alone without interbody fusion. Methods: : Plain radiographs, computed tomography scans, and magnetic resonance imaging, taken at different intervals, were used to measure local disc height (DH), vertebral body slippage (BS), and segmental motion angle (SMA). A Visual analogue scale and the Oswestry disability index (ODI) were applied pre-operation and at the last follow-up. Results: : The local SMA decreased significantly by 3.46°±3.07°, from 10.61°±3.42° preoperatively to 7.15±3.70 at the last follow-up (p<0.001). The DH decreased from 8.61±2.88 mm preoperatively to 8.41±2.48 mm at the last follow-up (p=0.074). The BS decreased from 3.49±4.29 mm preoperatively to 3.41±4.91 mm at the last follow-up (p=0.092). None of the patients reported worsening pain or an increased ODI after surgery, and there were no surgery-related complications. Conclusion : Posterior lumbar element reinforcement by decompression alone with SPIRE™ fixation is an alternative primary and salvage treatment option for select patients with spondylolisthesis.

Purpose: Since 1995, the Korean Gastric Cancer Association (KGCA) has been periodically conducting nationwide surveys on patients with surgically treated gastric cancer. This study details the results of the survey conducted in 2023. Materials and Methods: The survey was conducted from March to December 2024 using a standardized case report form. Data were collected on 86 items, including patient demographics, tumor characteristics, surgical procedures, and surgical outcomes. The results of the 2023 survey were compared with those of previous surveys. Results: Data from 12,751 cases were collected from 66 institutions. The mean patient age was 64.6 years, and the proportion of patients aged ≥71 years increased from 9.1% in 1995 to 31.7% in 2023. The proportion of upper-third tumors slightly decreased to 16.8% compared to 20.9% in 2019. Early gastric cancer accounted for 63.1% of cases in 2023.Regarding operative procedures, a totally laparoscopic approach was most frequently applied (63.2%) in 2023, while robotic gastrectomy steadily increased to 9.5% from 2.1% in 2014.The most common anastomotic method was the Billroth II procedure (48.8%) after distal gastrectomy and double-tract reconstruction (51.9%) after proximal gastrectomy in 2023.However, the proportion of esophago-gastrostomy with anti-reflux procedures increased to 30.9%. The rates of post-operative mortality and overall complications were 1.0% and 15.3%, respectively. Conclusions The results of the 2023 nationwide survey demonstrate the current status of gastric cancer treatment in Korea. This information will provide a basis for future gastric cancer research.

Background: To identify the optimal surgical technique for single-level anterior cervical discectomy and fusion (ACDF), this study compared surgical outcomes and incidence of adjacent segment degeneration (ASD) in patients undergoing single-level ACDF using cage alone single-level fusion and plate fixation techniques. Methods: This single-center retrospective study (2003–2018) included patients who underwent single-level ACDF with either plate fixation (PLATE) or cage (CAGE) alone. The radiologic and clinical outcomes between the 2 surgical groups were compared over a 4-year follow-up period. Outcomes of interest included parameters related to range of motion, sagittal alignment, as well as fusion, subsidence, and ASD rates. Clinical outcomes were evaluated using the Neck Disability Index (NDI) and visual analog scale (VAS) for pain. Dysphagia and hoarseness rates were estimated based on medical records. Results: Forty-seven patients were included (n=17 in CAGE group). In the CAGE group, 94.1% of the patients had Bridwell grade 1 or 2, compared to 83.3% in the PLATE group (p = 0.396). Subsidence occurred in 12.5% and 3.6% of the CAGE and PLATE cases, respectively (p = 0.543). Segmental kyphosis progressed in the CAGE group compared to the PLATE group at 12, 24, and 48 months (p < 0.001). Radiographic ASD was observed in 41.2% and 30.0% of patients in the CAGE and PLATE groups, respectively, with a higher incidence in the upper segments for both groups. Preoperative NDI scores were similar between the groups; however, postoperatively, the CAGE group had significantly lower NDI scores (3.50 ± 2.74 vs. 8.00 ± 5.81) at 4 years (p = 0.020). Neck pain VAS scores also showed significant improvement in the CAGE group (2.33 ± 2.94) compared with that in the PLATE group (3.07 ± 2.31) at 4 years (p = 0.045). Both groups showed comparable arm pain VAS scores at 2 and 4 years postoperatively. Postoperative dysphagia occurred in 1 patient in the PLATE group, resolving almost completely by 1 year. Conclusions Single-level ACDF using a cage alone technique demonstrated favorable radiologic and clinical outcomes overall compared to plate-augmented ACDF. However, plate augmentation is recommended for patients with severe cervical kyphosis or those at high risk of subsidence.

Background: This study aimed to investigate the prevalence, management, and comorbidities of diabetes mellitus among Korean adults. Methods: Data from the Korea National Health and Nutrition Examination Survey (2019–2022) were analyzed to assess the prevalence, treatment, risk factors, and comorbidities of diabetes. Comparisons between young and older adults with diabetes were emphasized. Results: Among Korean adults aged ≥30 years, the prevalence of diabetes is 15.5% during 2021–2022. Of these, 74.7% were aware of their condition, 70.9% received antidiabetic treatment, and only 32.4% achieved glycosylated hemoglobin (HbA1c) <6.5%. Moreover, 15.9% met the integrated management targets, which included HbA1c <6.5%, blood pressure <140/85 mm Hg, and low-density lipoprotein cholesterol <100 mg/dL. In young adults aged 19 to 39 years, the prevalence of diabetes was 2.2%. Among them, 43.3% were aware of their condition, 34.6% received treatment, and 29.6% achieved HbA1c <6.5%. Obesity affected 87.1%, and 26.9% had both hypertension and hypercholesterolemia. Among adults aged ≥65 years, the prevalence of diabetes was 29.3%, with awareness, treatment, and control rates of 78.8%, 75.7%, and 31.2%, respectively. Integrated management targets (HbA1c <7.5%, hypertension, and lipids) were achieved by 40.1%. Conclusion Diabetes mellitus remains highly prevalent among Korean adults, with significant gaps in integrated glycemic, blood pressure, and lipid control. Older adults with diabetes show higher awareness and treatment rates but limited integrated management outcomes. Young adults with diabetes bear a significant burden of obesity and comorbidities, alongside low awareness and treatment rates. Therefore, early intervention programs, education, and strategies tailored to younger populations are urgently required.