Yonsei Medical Journal最新文献

Purpose: Hereditary spastic paraplegia (HSP) refers to a group of genetic neurodegenerative diseases marked by gradually worsening spasticity and hyperreflexia in the lower extremities. This study aimed to describe the clinical and genetic characteristics of Korean patients with spastic paraplegia.

Materials and methods: We retrospectively reviewed medical records of 69 patients with spastic paraplegia from 54 unrelated families between 2002 and 2024. Genetic, clinical, electrophysiological, and radiological features were comprehensively analyzed.

Results: Causative genes were identified in 34 (63%) of 54 unrelated families; SPAST, detected in 26 families, was the most prevalent. Seven novel pathogenic variants were identified. Clinically, the median age of symptom onset was 25 years [14.0-37.0]. Out of 69 patients with spastic paraplegia, 51 (74%) presented with the pure form of spastic paraplegia, which included all patients with SPG4. Spastic gait was a universal feature in all patients. Urinary dysfunction was present in 42 (61%) patients. Additional neurologic manifestations included peripheral neuropathy 9 (13%), cognitive impairment 5 (7%), upper limb weakness 4 (6%), dysarthria 4 (6%), dysphagia 3 (4%), ataxia 3 (4%), and scoliosis 1 (3%). Brain MRI findings demonstrated a thin corpus callosum in two patients with SPG11; all patients with SPG4 had normal findings. Spine MRI revealed spinal cord atrophy in 16 (27%) patients, including 6 (21%) patients with SPG4.

Conclusion: The study comprehensively reviewed genetic and clinical spectra of spastic paraplegia in Korean patients, emphasizing the predominance of SPAST as the causative gene and underscoring the genetic and phenotypic heterogeneity of spastic paraplegia.

Purpose: Previous studies have demonstrated that short-course radiotherapy (SCRT), followed by consolidation chemotherapy (CCT), produces oncologic outcomes comparable to those of long-course chemoradiotherapy (LCRT). However, more recent long-term data have raised concerns regarding the durability of these benefits. This study aimed to assess the long-term surgical and oncologic outcomes of SCRT with CCT vs. LCRT, using data from the ESCORT trial.

Materials and methods: This comparative study included 62 patients with locally advanced rectal cancer. Patients in the SCRT group (n=27) were prospectively enrolled in the ESCORT trial (NCT03676517), a single-arm phase II study conducted from 2018 to 2020. They received five daily fractions of 5 Gy, followed by two cycles of XELOX, and surgery after 4 weeks. A matched cohort of 35 patients who underwent LCRT during the same period was retrospectively identified from institutional records.

Results: With a median follow-up of 4.75 years for the SCRT group and 4.94 years for the LCRT group, the 5-year overall survival rates were similar between the groups (SCRT: 100% vs. LCRT: 97.1%, p=0.382). The 5-year disease-free survival (DFS) rates were 83.6% for SCRT and 70.3% for LCRT (p=0.237). In multivariable analysis, SCRT was not associated with inferior DFS (hazard ratio, 0.53; 95% confidence interval, 0.14-2.04). Delayed anastomosis-related complications occurred at similar rates (18.5% vs. 20.0%; p=0.884).

Conclusion: SCRT with CCT demonstrated long-term oncologic outcomes and surgical safety comparable to those of LCRT, supporting its role as a viable alternative, particularly in resource-constrained healthcare settings.

Purpose: Total hip arthroplasty (THA) is challenging in cases of acetabular deficiency, implant loosening after primary THA, and osteoarthritis secondary to hip dysplasia. Three-dimensional (3D) prototyping models from CT scans enhance preoperative planning and anatomical understanding, particularly in complex acetabular reconstruction. The purpose of this study was to determine the effectiveness of the rapid prototyping pelvic model in THA.

Materials and methods: This retrospective study included 20 hips in 18 patients (8 male, 10 female; mean age 60.9 years). Acetabular defects were classified using Paprosky types: 2B (1 case), 2C (11 cases), 3A (5 cases), along with pseudo-acetabular formation (2 hips) and metastatic bone defects (1 hip). 3D models were printed using fused deposition modeling (FDM) with polylactic acid filament. Preoperative simulations of acetabular reaming and cup positioning were performed on the models. Radiographic outcomes included acetabular cup inclination, anteversion, osteolysis, and implant loosening. Surgical complications such as dislocation, infection, and fracture were analyzed.

Results: Mean acetabular cup inclination was 49.1° [43.5-54.7], and anteversion was 15.0° [2.0-28.0]. None of the cases showed implant loosening, osteolysis progression, or surgical complications during a mean follow-up of 71.5 months. Trabecular metal augment (7 cases) and acetabular cages (3 cases) were used for defect management, with additional bone screw stabilization in most cases.

Conclusion: Preoperative planning using 3D prototyping pelvic models resulted in accurate cup positioning and stable outcomes in complex THA cases. Further studies with larger cohorts and longer follow-up are necessary to confirm these findings.

Purpose: Accurate positioning of the double-lumen endobronchial tube (DLT) is crucial for successful lung isolation during thoracic surgery. However, misdirection of the left-sided DLT into the right main bronchus frequently occurs in short, obese females with narrow airways. A novel triple-cuff DLT features an additional carinal cuff positioned on the right side of the tube, which differentiates it from conventional double-cuff DLTs. We hypothesized that inflating the carinal cuff would direct the bronchial tip of the triple-cuff DLT toward the left main bronchus, thereby reducing the likelihood of DLT misdirection when compared to the conventional double-cuff DLT.

Materials and methods: In this single-center, unblinded randomized controlled trial, short, obese females with narrow airways were randomly assigned to either the triple-cuff or double-cuff group (n=77 each) and were intubated with the respective DLTs. The DLT misdirection rate, adjustment depth for optimal positioning, intubation time, and the incidence of hypoxia, airway injury, and postoperative airway complications were assessed.

Results: Data from 143 patients were analyzed. The triple-cuff group exhibited a lower DLT misdirection rate compared to the double-cuff group (15.3% vs. 46.5%, odds ratio 4.81, 95% confidence interval 2.18-10.64, p<0.001). Triple-cuff DLT was also associated with fewer adjustments, shorter intubation times, and lower incidences of hypoxia, airway injury, and sore throat than double-cuff DLT.

Conclusion: Triple-cuff DLT was superior to conventional DLT in reducing DLT misdirection in short, obese females with narrow airways. Furthermore, it facilitated a faster intubation process and reduced airway complications, thereby enhancing patient safety.

Clinical trial registration: NCT06061055 (ClinicalTrials.gov).

Purpose: To evaluate the outcomes of photodynamic therapy (PDT) for choroidal nevus associated with subfoveal fluid.

Materials and methods: Electronic medical records were reviewed for patients diagnosed with choroidal nevus and treated with PDT at a single center in Seoul, South Korea, from January 2019 to December 2023. Patient demographics, tumor characteristics, and clinical progress following PDT, including changes in foveal subretinal fluid (SRF) height, central subfield thickness (CST), corrected distant visual acuity (CDVA), tumor size, and fluid recurrence, were analyzed.

Results: Seven eyes of seven patients were included; all had SRF involving the foveal center and associated visual symptoms. The median diameter and thickness of tumors were 4.10 mm (range 3.2-5.5 mm) and 0.80 mm (range 0.6-1.4 mm), respectively. All patients received a single PDT session, with a mean follow-up of 20.6 months. Subfoveal fluid decreased in 6 patients (85.7%), with complete resolution in 4 eyes (57.1%); 1 patient showed no significant change after PDT. Consequently, the mean foveal SRF height decreased from 135.9±83.0 µm to 20.3±31.9 µm, and CST from 365.7±82.5 µm to 258.1±52.7 µm. CDVA improved in 1 patient (14.3%), remained stable in 3 (42.9%), and decreased in 2 (28.6%). Three of six patients with reduced subfoveal fluid experienced recurrence at 3 months, 3 months, and 21 months after PDT.

Conclusion: PDT demonstrated noticeable efficacy in reducing subfoveal fluid associated with choroidal nevus within 1 month of treatment. However, in some cases, the effect may be limited in long-term maintenance.

This corrects the article on p. 298 in vol. 60 , PMID: 30799593.

Purpose: To investigate the concordance rate between chest imaging and lung biopsy results for interstitial lung disease (ILD) in patients with microscopic polyangiitis (MPA) and to compare their clinical utility for MPA classification.

Materials and methods: This study included 24 patients who had both chest imaging and lung biopsy results at diagnosis and who fulfiled the 2022 American College of Rheumatology/European Alliance of Associations for Rheumatology criteria for MPA. Concordance was defined as the concurrent confirmation of ILD on chest imaging and lung biopsy. Positive and negative predictive values were assessed in patients with and without ILD on chest imaging, respectively, and compared with histologically confirmed ILD on lung biopsy.

Results: The median age was 73.5 years, and all patients had myeloperoxidase (MPO)-antineutrophil cytoplasmic antibody. Among the 24 patients, 10 (41.7%) and 5 (20.8%) exhibited radiological and histological findings consistent with ILD, respectively. Among the 10 patients with radiological findings of ILD, only 4 exhibited histological features consistent with ILD on lung biopsy, leading to a concordance rate of 40%. Conversely, among the remaining 14 patients without radiological findings of ILD, 13 showed histological features inconsistent with ILD on lung biopsy, resulting in a concordance rate of 92.9%.

Conclusion: Lung biopsy should be considered in highly selected patients who are MPO-positive without involvement of other organs. The decision to determine the need for lung biopsy should be made by a multidisciplinary team.

Purpose: While many studies have explored the association between habitual salt intake and the incidence of coronary artery disease, research on the relationship between saltiness level and sudden cardiac arrest (SCA) is limited. Therefore, this study aimed to investigate the association between perceived dietary saltiness and the risk of SCA, as well as whether this relationship is influenced by the presence of diabetes mellitus (DM).

Materials and methods: We conducted a multicenter case-control study at 17 hospitals in Korea between September 2017 and December 2020. The cases involved patients with out-of-hospital cardiac arrest, aged 19-79 years, with a presumed cardiac cause. Community-based controls were matched 1:1 with cases based on age, sex, and level of urban residence. The primary exposure was perceived dietary saltiness. We used multivariable logistic regression to compare outcomes and included interaction terms in the final model to evaluate whether DM modified the effect of salt intake on SCA incidence.

Results: Multivariable conditional logistic regression analysis showed that a very salty diet was associated with an increased risk of SCA [adjusted odds ratio (AOR) (95% confidence interval, CI): 1.88 (1.12-3.16)] compared to a moderate salt intake. In the interaction analysis, the risk of SCA from a very salty diet was significantly higher only in individuals with DM [AOR (95% CI): 3.49 (1.74-5.55)], with no significant association in those without DM.

Conclusion: A perceived high level of dietary saltiness was associated with an increased incidence of SCA in the general population; however, a significant association was observed only in individuals with DM.

Purpose: Data on drug-coated balloon (DCB) treatment in acute myocardial infarction (AMI) are limited. We aimed to assess the efficacy and safety of DCB revascularization in percutaneous coronary intervention (PCI) in patients with de novo AMI.

Materials and methods: Three hundred twenty-nine patients with de novo AMI who were successfully treated with DCB-based PCI were retrospectively enrolled. Patients treated with DCB-based PCI were compared to propensity score-matched patients who underwent conventional PCI with second-generation drug-eluting stent (DES), using data from a DES registry. Both groups were followed over 2 years to assess net adverse cardiovascular events (NACE).

Results: The cumulative incidences of NACE [6.2% vs. 10.8%; hazard ratio (HR) (95% confidence interval, CI): 0.54 (0.33-0.88); p=0.014], target vessel revascularization [1.7% vs. 5.7%; HR (95% CI): 0.33 (0.13-0.80); p=0.014], and major bleeding [0.8% vs. 3.2%; HR (95% CI): 0.21 (0.05-0.83); p=0.027] were significantly lower in the DCB-based group compared to the DES-only group after 2 years of follow-up. These results remained consistent after adjusting for baseline differences using multivariable regression, propensity score matching, and inverse probability of treatment weighting. In a multivariable model, DCB-based PCI was independently associated with reduced risk of 2-year NACE, target vessel revascularization, and major bleeding.

Conclusion: In patients with de novo AMI, DCB-based PCI showed more favorable clinical outcomes after 2 years of follow-up compared to conventional DES-only PCI. DCB-based PCI may serve as a safe and effective alternative to DES-only PCI in carefully selected patients with satisfactory pre-dilation results (Impact of Drug-Coated Balloon Treatment in De Novo Coronary Lesion; NCT04619277).

Purpose: Lynch syndrome (LS) is the most common hereditary cause of colorectal cancer (CRC). While screening for LS is recommended in Western countries, limited economic evaluations exist in lower-middle-income countries such as Vietnam, where CRC incidence is rapidly increasing. This study assessed the cost-utility of universal LS screening in Vietnam from the healthcare system's perspective.

Materials and methods: We developed a decision-analytic model integrating decision trees and Markov models to compare the cost-effectiveness of three strategies: no screening, universal immunohistochemistry (IHC) followed by germline testing, and germline testing without prior tumor analysis. Cost data were derived from Vietnamese healthcare sources, and outcomes were measured in quality-adjusted life years (QALYs). To assess parameter uncertainty, we conducted both one-way sensitivity analysis and probabilistic sensitivity analysis.

Results: Universal LS screening was found to be highly cost-effective. Universal germline testing identified the most LS CRC patients (n=742), followed by universal IHC testing (n=646). Compared to no screening, the incremental cost-effectiveness ratios were 47615038 VND/QALY (1904 USD/QALY) for germline testing and 126095537 VND/QALY (5043 USD/QALY) for IHC. Key influential variables included LS prevalence, CRC risk in LS carriers, the proportion of relatives with LS accepting increased surveillance, the acceptance rate of LS testing among relatives, and germline testing cost.

Conclusion: All LS screening strategies for CRC patients are cost-effective within the Vietnamese health system, with germline testing being the most favorable. These findings support the inclusion of LS screening in health policies, even in resource-limited settings such as Vietnam.