Purpose: Desmoid tumor, also known as aggressive fibromatosis, is well-characterized by abnormal Wnt/β-catenin signaling. Various therapeutic options, including imatinib, are available to treat desmoid tumor. However, the molecular mechanism of why imatinib works remains unclear. Here, we describe potential roles of NOTCH2 and HES1 in clinical response to imatinib at genome and transcriptome levels. Materials and Methods: We identified somatic mutations in coding and noncoding regions via whole-genome sequencing. To validate the genetic interaction with expression level in desmoid-tumor condition, we utilized large-scale whole-genome sequencing and transcriptome datasets from the Pan-Cancer Analysis of Whole Genomes project. RNA-sequencing was performed using prospective and retrospective cohort samples to evaluate the expressional relevance with clinical response. Results: Among 20 patients, four (20%) had a partial response and 14 (66.7%) had stable disease, 11 of which continued for ≥ 1 year. With gene-wise functional analyses, we detected a significant correlation between recurrent NOTCH2 noncoding mutations and clinical response to imatinib. Based on Pan-Cancer Analysis of Whole Genomes data analyses, NOTCH2 mutations affect expression levels particularly in the presence of CTNNB1 missense mutations. By analyzing RNA-sequencing with additional desmoid tumor samples, we found that NOTCH2 expression was significantly correlated with HES1 expression. Interestingly, NOTCH2 had no statistical power to discriminate between responders and non-responders. Instead, HES1 was differentially expressed with statistical significance between responders and non-responders. Conclusion Imatinib was effective and well tolerated for advanced desmoid tumor treatment. Our results show that HES1, regulated by NOTCH2, as an indicator of sensitivity to imatinib, and an important therapeutic consideration for desmoid tumor.

Purpose: Intraoperative frozen section biopsy is used to reduce the margin positive rate and re-excision rate and has been reported to have high diagnostic accuracy. A majority of breast surgeons in the Republic of Korea routinely perform frozen section biopsy to assess margins intraoperatively, despite its long turnaround time and high resource requirements. This study aims to determine whether omitting frozen section biopsy for intraoperative margin evaluation in selected patients is non-inferior to performing frozen section biopsy in terms of resection margin positivity rate. Methods This study is a phase III, randomized controlled, parallel-group, multicenter non-inferiority clinical trial. Patients meeting the inclusion criteria and providing written informed consent will be randomized to the “frozen section biopsy” or “frozen section biopsy omission” group after lumpectomy. Patients with clinical stage T1–T3 disease who are diagnosed with invasive breast cancer by core-needle biopsy and plan to undergo breast-conserving surgery will be included in this study. If a daughter nodule, non-mass enhancement, or microcalcification is identified on preoperative imaging, these features must be within 1 cm of the main mass for inclusion in the trial. The target sample size is 646 patients per arm. The primary endpoint will be the resection margin positive rate, and the secondary endpoints include the reoperation rate, operating time, residual cancer after reoperation, residual cancer after re-excision according to the frozen section biopsy result, resection volume, patient quality of life, and cost-effectiveness.Discussion: This is the first randomized clinical trial utilizing frozen section biopsy for intraoperative margin evaluation and aims to determine the non-inferiority of omitting frozen section biopsy in selected patients compared to performing frozen section biopsy.We expect that this trial will help surgeons perform the procedure more efficiently while ensuring patient safety.

PURPOSE: The severity and mortality of motorcycle accidents are higher than those of other traffic accidents. The majority of risk factors for injury severity identified in previous studies are difficult to apply. This study attempted to identify the clinically useful risk factors for predicting severely injured patients presenting to the emergency department after a motorcycle accident. METHODS: Motorcycle accident patients who visited a Level I trauma center from October 2015 to March 2017 were analyzed. The patients were classified as the severely injured group (Injury Severity Score, ISS≥16) and non-severely injured group (ISS<16). RESULTS: A total of 271 patients were analyzed; 135 (49.8%) patients were included in the severely injured group. Multiple logistic regression analysis was performed with the statistically significant factors between the two groups, including age, systolic blood pressure, heart rate, Glasgow coma scale, alcohol ingestion, and site of injury. The final risk factors predicting severely injured patients were as follows: age (adjusted odds ratio [aOR], 1.023; 95% confidence interval [CI], 1.005– 1.041; p=0.011), systolic blood pressure (aOR, 0.981; 95% CI, 0.970–0.993; p=0.002) and site of injury including abdomen (aOR, 5.785; 95% CI, 2.513–13.316; p<0.001), chest (aOR, 4.567; 95% CI, 2.274–9.173; p<0.001), head and neck (aOR, 5.762; 95% CI, 2.656–12.504; p<0.001), and face (aOR, 2.465; 95% CI, 1.229–4.943; p=0.011). CONCLUSION: Motorcycle accident patients should be assessed promptly for injury to the chest or abdomen by a careful physical examination and focused assessment with sonography for trauma.
Abdomen ; Accidents, Traffic ; Blood Pressure ; Critical Care ; Eating ; Emergency Service, Hospital ; Glasgow Coma Scale ; Head ; Heart Rate ; Humans ; Injury Severity Score ; Logistic Models ; Mortality ; Motorcycles* ; Neck ; Odds Ratio ; Physical Examination ; Risk Factors ; Thorax ; Trauma Centers

OBJECTIVE: We designed a nationwide study with limited exclusion criteria to investigate the prevalence of metabolic syndrome (MetS) in Korea and its relationship with antipsychotic medications. METHODS: This multicenter, cross-sectional, and observational study included patients diagnosed with schizophrenia or schizoaffective disorder. Sixteen hospitals enrolled 845 patients aged 18 to 65 years prescribed any antipsychotic medication between August 2011 and August 2013. MetS was diagnosed using the criteria of the modified Adult Treatment Panel III of the National Cholesterol Education Program with the Korean abdominal obesity definition (waist circumference ≥85 cm in women, ≥90 cm in men). RESULTS: The prevalence of MetS in all patients was 36.5% and was significantly higher in men than women (men, 40.8%; women, 32.2%) and was significantly correlated with age [odds ratio (OR) 1.02] and duration of illness (OR 1.03). The prevalence of MetS across antipsychotic drugs in the major monotherapy group was as follows: 18.8% for quetiapine, 22.0% for aripiprazole, 33.3% for both amisulpride and paliperidone, 34.0% for olanzapine, 35% for risperidone, 39.4% for haloperidol, and 44.7% for clozapine. CONCLUSION: The prevalence of MetS is very high in patients with schizophrenia or schizoaffective disorder. Screening and monitoring of MetS is also strongly recommended.
Adult ; Antipsychotic Agents ; Aripiprazole ; Cholesterol ; Clozapine ; Cross-Sectional Studies* ; Education ; Female ; Haloperidol ; Humans ; Korea* ; Male ; Mass Screening ; Obesity, Abdominal ; Observational Study ; Paliperidone Palmitate ; Prevalence* ; Psychotic Disorders ; Quetiapine Fumarate ; Risperidone ; Schizophrenia*

PURPOSE: A secondary triage tool for pediatric trauma patients, “modified pediatric trauma score (mPTS)” was introduced to predict high risk trauma. METHODS: Pediatric trauma patients (≤15 years) presenting to the Pusan National University Hospital trauma center emergency department were analyzed retrospectively. The patients were classified into high risk and low risk groups. The high risk group was assigned an Injury Severity Score ≥12, death, intensive care unit admission, or urgent intervention (intubation, closed thoracostomy, emergency angiography and embolization, emergency surgery). The airway, blood pressure, fractures, level of consciousness, and external wounds were evaluated and the mPTS was calculated. RESULTS: One hundred seventy-seven patients were enrolled in this study. The mPTS had a sensitivity, specificity, positive predictive value, and negative predictive value of 88%, 54%, 60%, and 85%, respectively. Overtriage and undertriage was 39% and 14%, respectively. The mPTS missed 6 high risk patients and all 6 patients were abdominal injury patients. The mPTS was modified to include an abdominal physical examination and/or focused assessment with sonography for trauma. The newly developed scoring system was called the extended mPTS (E-mPTS). The E-mPTS had a sensitivity of 98% and negative predictive value of 98%. The safe level of overtriage (38%) was maintained. CONCLUSION: mPTS was applied to the patients and the undertriage rate was too high. The extended mPTS improved undertriage to 2% while maintaining the overtriage rate at a safe level. The E-mPTS is expected to have a resource saving effect when used as a pediatric trauma team activation standard.
Abdominal Injuries ; Angiography ; Blood Pressure ; Busan ; Consciousness ; Emergencies ; Emergency Medicine ; Emergency Service, Hospital ; Humans ; Injury Severity Score ; Intensive Care Units ; Mass Screening* ; Pediatrics ; Physical Examination ; Retrospective Studies ; Sensitivity and Specificity ; Thoracostomy ; Trauma Centers ; Triage ; Wounds and Injuries

PURPOSE: Although single-radius (SR) designs have a theoretical advantage in quadriceps recovery following total knee arthroplasty (TKA), there has been a paucity of objective evaluation studies. MATERIALS AND METHODS: One hundred and twenty minimally invasive TKAs were prospectively randomized by a single surgeon into 2 groups: SR design TKA group and multi-radius design TKA group. Quadriceps force and power were assessed using a dynamometer, and clinical data were investigated preoperatively and 6 weeks, 3 months, 6 months and 1 year postoperatively. RESULTS: There were no differences between two groups in quadriceps recovery and clinical results throughout the follow-up period. Furthermore, the proportion of patients whose postoperative quadriceps force and power reached preoperative level was similar in both groups. CONCLUSIONS: Femoral component design itself would not significantly influence quadriceps recovery after TKA.
Arthroplasty ; Follow-Up Studies ; Humans ; Knee ; Muscle Strength Dynamometer ; Prospective Studies ; Prosthesis Design ; Quadriceps Muscle

PURPOSE: The aim of this study was to evaluate the effect of head rotation and leg elevation as it impacts the depth from the skin surface to the internal jugular vein (IJV), the diameter of the IJV, and the relative anatomical location of the IJV to the carotid artery (CA). METHODS: A total of 20 volunteers were enrolled in this study. In a supine position with/without 30degrees head rotation to the left, and with/without 30degrees leg elevation, the depth from skin surface to IJV, the IJV diameters, and the anatomical relationship between IJV and CA were measured using 2-dimensional ultrasound from the right side of the neck. The relative position of the IJV to the CA was depicted as an angle ranging from -180degrees to +180degrees. The measurements observed in each position were compared. RESULTS: As the head was rotated to the left, the depth of the IJV from the skin surface decreased and the anteroposterior IJV diameter increased significantly (all p<0.001). The relative position of the IJV to the CA tended to move in an anterior and medial direction during head rotation. Leg elevation had a significant impact on the transverse diameter of the IJV, but only when the head was rotated (p=0.027). With leg elevation, there was no consistent locational change of the IJV relative to the carotid artery, and there were no significant changes observed for IJV depth relative to the surface of the skin or IJV anteroposterior diameter. CONCLUSION: Our results indicated that head rotation increases the risk of carotid artery puncture by increasing the overlap of the carotid artery and the IJV. To decrease the risk of carotid artery puncture, a neutral head position should be maintained during IJV catheterization, with a central approach.
Carotid Arteries ; Carotid Artery Injuries ; Catheterization ; Catheterization, Central Venous ; Catheters ; Head ; Jugular Veins ; Leg ; Neck ; Punctures ; Skin ; Supine Position

PURPOSE: The aim of this study was to evaluate the effect of head rotation and leg elevation as it impacts the depth from the skin surface to the internal jugular vein (IJV), the diameter of the IJV, and the relative anatomical location of the IJV to the carotid artery (CA). METHODS: A total of 20 volunteers were enrolled in this study. In a supine position with/without 30degrees head rotation to the left, and with/without 30degrees leg elevation, the depth from skin surface to IJV, the IJV diameters, and the anatomical relationship between IJV and CA were measured using 2-dimensional ultrasound from the right side of the neck. The relative position of the IJV to the CA was depicted as an angle ranging from -180degrees to +180degrees. The measurements observed in each position were compared. RESULTS: As the head was rotated to the left, the depth of the IJV from the skin surface decreased and the anteroposterior IJV diameter increased significantly (all p<0.001). The relative position of the IJV to the CA tended to move in an anterior and medial direction during head rotation. Leg elevation had a significant impact on the transverse diameter of the IJV, but only when the head was rotated (p=0.027). With leg elevation, there was no consistent locational change of the IJV relative to the carotid artery, and there were no significant changes observed for IJV depth relative to the surface of the skin or IJV anteroposterior diameter. CONCLUSION: Our results indicated that head rotation increases the risk of carotid artery puncture by increasing the overlap of the carotid artery and the IJV. To decrease the risk of carotid artery puncture, a neutral head position should be maintained during IJV catheterization, with a central approach.
Carotid Arteries ; Carotid Artery Injuries ; Catheterization ; Catheterization, Central Venous ; Catheters ; Head ; Jugular Veins ; Leg ; Neck ; Punctures ; Skin ; Supine Position

Chronic obstructive pulmonary disease (COPD) is a substantially under-diagnosed disorder, and the diagnosis is usually delayed until the disease is advanced. However, the benefit of early diagnosis is not yet clear, and there are no guidelines in Korea for doing early diagnosis. This review highlights several issues regarding early diagnosis of COPD. On the basis of several lines of evidence, early diagnosis seems quite necessary and beneficial to patients. Early diagnosis can be approached by several methods, but it should be confirmed by quality-controlled spirometry. Compared with its potential benefit, the adverse effects of spirometry or pharmacotherapy appear relatively small. Although it is difficult to evaluate the benefit of early diagnosis by well-designed trials, several lines of evidence suggest that we should try to diagnose and manage patients with COPD at early stages of the disease.
Early Diagnosis ; Humans ; Korea ; Pulmonary Disease, Chronic Obstructive ; Spirometry

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a major cause of chronic morbidity and mortality throughout the world and is the only major disease that is continuing to increase in both prevalence and mortality. The second Korean National Health and Nutrition Survey revealed that the prevalence of COPD in Korean subjects aged > or =45 years was 17.2% in 2001. Further surveys on the prevalence of COPD were not available until 2007. Here, we report the prevalence of spirometrically detected COPD in Korea, using data from the fourth Korean National Health and Nutrition Survey (KNHANES IV) which was conducted in 2007~2009. METHODS: Based on the Korean Statistical Office census that used nationwide stratified random sampling, 10,523 subjects aged > or =40 years underwent spirometry. Place of residence, levels of education, income, and smoking status, as well as other results from a COPD survey questionnaire were also assessed. RESULTS: The prevalence of COPD (defined as forced expiratory volume in 1 sec/forced vital capacity <0.7 in subjects aged > or =40 years) was 12.9% (men, 18.7%; women, 7.5%). In total, 96.5% of patients with COPD had mild-to-moderate disease; only 2.5% had been diagnosed by physicians, and only 1.7% had been treated. The independent risk factors for COPD were smoking, advanced age, and male gender. CONCLUSION: The prevalence of COPD was 12.9% in the KNHANES IV data. Most patients with COPD were undiagnosed and untreated. Based on these results, a strategy for early COPD intervention is warranted in high risk subjects.
Aged ; Censuses ; Female ; Forced Expiratory Volume ; Humans ; Hypogonadism ; Korea ; Male ; Mitochondrial Diseases ; Nutrition Surveys ; Ophthalmoplegia ; Prevalence ; Pulmonary Disease, Chronic Obstructive ; Surveys and Questionnaires ; Risk Factors ; Smoke ; Smoking ; Spirometry ; Vital Capacity