Purpose: Whole-exome sequencing (WES) has been a useful tool for novel gene discovery of various disease categories, further increasing the diagnostic yield. This study aimed to investigate the clinical utility of WES prospectively in undiagnosed genetic diseases. Materials and Methods: WES tests were performed on 110 patients (age range, 0-28 years) with suspected rare genetic diseases. WES tests were performed at a single reference laboratory and the variants reported were reviewed by clinical geneticists, pediatricians, neurologists, and laboratory physicians. Results: The patients’ symptoms varied with abnormalities in the head or neck, including facial dysmorphism, being the most common, identified in 85.4% of patients, followed by abnormalities in the nervous system (83.6%). The average number of systems manifesting phenotypic abnormalities per patient was 3.9±1.7. The age at presentation was 2.1±2.7 years old (range, 0-15 years), and the age at WES testing was 6.7±5.3 years (range, 0-28 years). In total, WES test reported 100 pathogenic/likely pathogenic variants or variants of uncertain significance for 79 out of 110 probands (71.8%). Of the 79 patients with positive or inconclusive calls, 55 (50.0%) patients were determined to have good genotype-phenotype correlations after careful review. Further clinical reassessment and family member testing determined 45 (40.9%) patients to have been identified with a molecular diagnosis. Conclusion This study showed a 40.9% diagnostic yield for WES test for a heterogeneous patient cohort with suspected rare genetic diseases. WES could be the feasible genetic test modality to overcome the diversity and complexity of rare disease diagnostics.

Background/Aims: Irreversible electroporation (IRE) is a relatively new ablation method. However, the application of IRE ablation in the treatment of biliary disease has not been attempted. A minimally invasive approach using endoscopic retrograde cholangiopancreatography (ERCP) can be a novel therapeutic modality for IRE ablation. In this study, we aimed to investigate the feasibility of endoscopic IRE for the biliary tract using an animal model. Methods: A new catheter-type electrode was developed for endoscopic IRE ablation of the biliary tract. We performed ERCP and endoscopic IRE ablations in the normal common bile duct of Yorkshire pigs. The experimental setting of IRE was 500 V/cm (50 pulses, 100-µs length). The animals were sacrificed after 24 hr, and the ablated bile duct was examined. Results: Well-demarcated focal color changes were observed on the mucosa of the common bile duct. The depth of change after IRE was confined to the mucosal and submucosal layers. Apoptotic changes in the bile duct were observed only around the IRE ablation area. Immunohistochemistry assay showed cell death in the bile duct along the electrode. Conclusions Endoscopic IRE ablation using ERCP was successfully performed in the common bile duct. It can be a potential option for the treatment of biliary tumors.

Background/Aims: Several attempts have been made to incorporate smart glasses in the medical field. We applied wearable display glasses to show the position of an observer during endoscopy and compared students’ responses between the conventional and new methods. Methods: We surveyed 28 medical students regarding the use of wearable display devices. The students used wearable display glasses to observe an endoscopic procedure and answered the prepared questionnaire. Their collected responses were analyzed for statistical correlations between each variable. Results: The survey of medical students revealed disadvantages including dizziness (dissatisfied and very dissatisfied: 21.5%) and eye fatigue (25% dissatisfied) and advantages including concentration (satisfied and very satisfied: 57.2%) and securing patient rights (71.4%). The students showed more positive than negative reviews regarding the new devices (32.1% vs. 21.5%). Conclusions We investigated the advantages and disadvantages of viewing the endoscope image with new wearable display glasses compared to the conventional method using the survey to record user experience. The results revealed relatively positive responses from the medical students in the survey. If the new device compensates for some shortcomings, its use in the endoscopy room will be feasible.

Purpose: This study was conducted to identify the factors influencing the posttraumatic growth (PTG) in patients with lung cancer and to provide basic data for nursing intervention development to improve PTG and adaptation. Methods: The study included 126 non-small cell lung cancer patients initially diagnosed at the Lung Cancer Center, C University Hospital in S city, Gyeonggi-do. Patients were asked to complete a questionnaire consisting of demographic characteristics, disease characteristics, posttraumatic growth, cancer coping, social support, and resilience. Data were analyzed using t-tests, ANOVA, and Pearson's correlation and multiple regression analysis. Results: The mean score for PTG in lung cancer patients was 56.39, cancer coping was 61.31, social support was 61.09, and resilience was 92.77. Significant positive correlations were found for PTG and cancer coping (r=.75, p<.001), social support (r=.52, p<.001) and resilience (r=.63, p<.001). Factors contributing to PTG of lung cancer patients were cancer coping (β=.53 p<.001), perceived health status(β=.20, p=.002), resilience (β=.21, p=.010) and importance of religion (β=.15, p=.013). This model explained about 64.0% of variances of PTG (F=29.58, p<.001). Conclusion It is necessary to develop new nursing intervention programs to improve PTG for patients with lung cancer based on strategies to enhance coping and resilience to recovery. Longitudinal studies examining temporal changes in PTG among patients with lung cancer are suggested for future studies in this regard.

Background/Aims: Irreversible electroporation (IRE) is a relatively new ablation method. However, the application of IRE ablation in the treatment of biliary disease has not been attempted. A minimally invasive approach using endoscopic retrograde cholangiopancreatography (ERCP) can be a novel therapeutic modality for IRE ablation. In this study, we aimed to investigate the feasibility of endoscopic IRE for the biliary tract using an animal model. Methods: A new catheter-type electrode was developed for endoscopic IRE ablation of the biliary tract. We performed ERCP and endoscopic IRE ablations in the normal common bile duct of Yorkshire pigs. The experimental setting of IRE was 500 V/cm (50 pulses, 100-µs length). The animals were sacrificed after 24 hr, and the ablated bile duct was examined. Results: Well-demarcated focal color changes were observed on the mucosa of the common bile duct. The depth of change after IRE was confined to the mucosal and submucosal layers. Apoptotic changes in the bile duct were observed only around the IRE ablation area. Immunohistochemistry assay showed cell death in the bile duct along the electrode. Conclusions Endoscopic IRE ablation using ERCP was successfully performed in the common bile duct. It can be a potential option for the treatment of biliary tumors.

Background/Aims: Several attempts have been made to incorporate smart glasses in the medical field. We applied wearable display glasses to show the position of an observer during endoscopy and compared students’ responses between the conventional and new methods. Methods: We surveyed 28 medical students regarding the use of wearable display devices. The students used wearable display glasses to observe an endoscopic procedure and answered the prepared questionnaire. Their collected responses were analyzed for statistical correlations between each variable. Results: The survey of medical students revealed disadvantages including dizziness (dissatisfied and very dissatisfied: 21.5%) and eye fatigue (25% dissatisfied) and advantages including concentration (satisfied and very satisfied: 57.2%) and securing patient rights (71.4%). The students showed more positive than negative reviews regarding the new devices (32.1% vs. 21.5%). Conclusions We investigated the advantages and disadvantages of viewing the endoscope image with new wearable display glasses compared to the conventional method using the survey to record user experience. The results revealed relatively positive responses from the medical students in the survey. If the new device compensates for some shortcomings, its use in the endoscopy room will be feasible.

Purpose: This study was conducted to identify the factors influencing the posttraumatic growth (PTG) in patients with lung cancer and to provide basic data for nursing intervention development to improve PTG and adaptation. Methods: The study included 126 non-small cell lung cancer patients initially diagnosed at the Lung Cancer Center, C University Hospital in S city, Gyeonggi-do. Patients were asked to complete a questionnaire consisting of demographic characteristics, disease characteristics, posttraumatic growth, cancer coping, social support, and resilience. Data were analyzed using t-tests, ANOVA, and Pearson's correlation and multiple regression analysis. Results: The mean score for PTG in lung cancer patients was 56.39, cancer coping was 61.31, social support was 61.09, and resilience was 92.77. Significant positive correlations were found for PTG and cancer coping (r=.75, p<.001), social support (r=.52, p<.001) and resilience (r=.63, p<.001). Factors contributing to PTG of lung cancer patients were cancer coping (β=.53 p<.001), perceived health status(β=.20, p=.002), resilience (β=.21, p=.010) and importance of religion (β=.15, p=.013). This model explained about 64.0% of variances of PTG (F=29.58, p<.001). Conclusion It is necessary to develop new nursing intervention programs to improve PTG for patients with lung cancer based on strategies to enhance coping and resilience to recovery. Longitudinal studies examining temporal changes in PTG among patients with lung cancer are suggested for future studies in this regard.

Background: The clinical features of pediatric rhabdomyolysis differ from those of the adults with rhabdomyolysis; however, multicenter studies are lacking. This study aimed to investigate the characteristics of pediatric rhabdomyolysis and reveal the risk factors for acute kidney injury (AKI) in such cases. Methods: This retrospective study analyzed the medical records of children and adolescents diagnosed with rhabdomyolysis at 23 hospitals in South Korea between January 2007 and December 2016. Results: Among 880 patients, those aged 3 to 5 years old composed the largest subgroup (19.4%), and all age subgroups were predominantly male. The incidence of AKI was 11.3%. Neurological disorders (53%) and infection (44%) were the most common underlying disorder and cause of rhabdomyolysis, respectively. The median age at diagnosis in the AKI subgroup was older than that in the non-AKI subgroup (12.2 years vs. 8.0 years). There were no significant differences in body mass index, myalgia, dark-colored urine, or the number of causal factors between the two AKI-status subgroups. The multivariate logistic regression model indicated that the following factors were independently associated with AKI: multiorgan failure, presence of an underlying disorder, strong positive urine occult blood, increased aspartate aminotransferase and uric acid levels, and reduced calcium levels. Conclusions Our study revealed characteristic clinical and laboratory features of rhabdomyolysis in a Korean pediatric population and highlighted the risk factors for AKI in these cases. Our findings will contribute to a greater understanding of pediatric rhabdomyolysis and may enable early intervention against rhabdomyolysis-induced AKI.

Background/Aims: Gastric electrical stimulation (GES) is a feasible modality for the treatment of gastroparesis; however, the presently available device requires invasive surgical implantation for long-term stimulation and repeated surgical procedure after a period of time. This study is aimed at developing a wireless miniature GES device and testing its endoscopic insertion in animal models. Methods: Endoscopic gastric implantation of the GES device was performed on 5 healthy weaner pigs under general anesthesia. We created an endoscopic submucosal pocket and inserted the gastro-electrical stimulator. In vivo gastric slow waves were recorded and measured during electrical stimulation. A multi-channel recorder, called an electrogastrogram, was used to record the gastric myoelectrical activity in the study. Results: The gastric slow waves on the electrogastrogram were more consistent with GES on the gastric tissues compared to no stimulation. The frequency-to-amplitude ratio was also significantly altered after the electrical stimulation. Conclusions GES is feasible with our minimally invasive wireless device. This technique has the potential to increase utilization of GES as a treatment alternative.

BACKGROUND/AIMS: Recent studies have demonstrated that etomidate is a safe sedative drug with noninferior sedative effects. In our recent study, we revealed that etomidate/midazolam was more hemodynamically stable than propofol/midazolam in elderly patients undergoing colonoscopies. We aimed to investigate whether compared with propofol/midazolam, etomidate/midazolam causes fewer cardiopulmonary adverse events with noninferior efficacy for screening colonoscopies in patients of all ages. METHODS: In this single-center, randomized, double-blind study, we prospectively enrolled 200 patients. The patients were divided into etomidate and propofol groups. The primary outcome was the occurrence of cardiopulmonary adverse events. The secondary outcomes were the proportion of patients with fluctuations in vital signs (oxygen desaturation and transient hypotension), adverse events interrupting the procedure, and sedation-related outcomes. RESULTS: Adverse cardiopulmonary events were more common in the propofol group than the etomidate group (65.0% vs 51.0%, respectively; p=0.045). Forty-six patients (46.0%) in the propofol group and 29 (29.0%) in the etomidate group experienced fluctuations in their vital signs (p=0.013). The proportions of patients experiencing adverse events that interrupted the procedure, including myoclonus, were not significantly different between the two groups (etomidate: 20.0% vs propofol: 11.0%; p=0.079). Both groups had similar sedation-related outcomes. Multivariate analysis revealed that compared with the propofol groups, the etomidate group had a significantly lower risk of fluctuations in vital signs (odds ratio, 0.427; 95% confidence interval, 0.230 to 0.792; p=0.007). CONCLUSIONS: Compared with using propofol/midazolam, using etomidate/midazolam for screening colonoscopies results in more stable hemodynamic responses in patients of all ages; therefore, we recommend using etomidate/midazolam for colonoscopies in patients with cardiovascular risk factors.
Aged ; Colonoscopy ; Double-Blind Method ; Etomidate ; Hemodynamics ; Humans ; Hypnotics and Sedatives ; Mass Screening ; Midazolam ; Multivariate Analysis ; Myoclonus ; Propofol ; Prospective Studies ; Risk Factors ; Vital Signs