• Genomics & Informatics
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• v.17 no.4
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• pp.46.1-46.7
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• 2019

The implications of germline de novo variants (DNVs) in diseases are well documented. Despite extensive research, inconsistencies between studies remain a challenge, and the distribution and genetic characteristics of DNVs need to be precisely evaluated. To address this issue at the whole-genome scale, a large number of DNVs identified from the whole-genome sequencing of 1,902 healthy trios (i.e., parents and progeny) from the Simons Foundation for Autism Research Initiative study and 20 healthy Korean trios were analyzed. These apparently nonpathogenic DNVs were enriched in functional elements of the genome but relatively depleted in regions of common copy number variants, implying their potential function as triggers of evolution even in healthy groups. No strong mutational hotspots were identified. The pathogenicity of the DNVs was not strongly elevated, reflecting the health status of the cohort. The mutational signatures were consistent with previous studies. This study will serve as a reference for future DNV studies.

• 대한예방의학회:학술대회논문집
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• 2002.10a
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• pp.401-402
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• 2002

• Journal of Preventive Medicine and Public Health
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• v.52 no.6
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• pp.393-404
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• 2019

Objectives: The purpose of this study was to determine the associations between blood hemoglobin (Hgb) levels and the risk of death by specific causes. Methods: Using the National Health Insurance Services-National Health Screening Cohort (n=487 643), we classified serum Hgb levels into 6 sex-specific groups. Cox regression analysis was used to analyze the associations between Hgb levels and the risk of cause-specific death. Results: Hgb levels in male population showed a U-shaped, J-shaped, or inverse J-shaped association with the risk of death from ischemic heart disease, acute myocardial infarction, liver cancer, cirrhosis and chronic obstructive pulmonary disease (COPD) (all non-linear p<0.05; hazard ratio [HR]; 95% confidence interval [CI]) for the lowest and the highest Hgb levels for the risk of each cause of death in male population: HR, 1.14; 95% CI, 0.98 to 1.34; HR, 2.87; 95% CI, 1.48 to 5.57; HR, 1.16; 95% CI, 0.96 to 1.40; HR, 3.05; 95% CI, 1.44 to 6.48; HR, 1.36; 95% CI, 1.18 to 1.56; HR, 2.11; 95% CI, 1.05 to 4.26; HR, 3.64; 95% CI, 2.49 to 5.33; HR, 5.97; 95% CI, 1.44 to 24.82; HR, 1.62; 95% CI, 1.14 to 2.30; HR, 3.84; 95% CI, 1.22 to 12.13, respectively), while in female population, high Hgb levels were associated with a lower risk of death from hypertension and a higher risk of death from COPD (overall p<0.05; HR, 1.86; 95% CI, 1.29 to 2.67 for the lowest Hgb levels for hypertension; overall p<0.01, HR, 6.60; 95% CI, 2.37 to 18.14 for the highest Hgb levels for COPD). For the risk of lung cancer death by Hgb levels, a linear negative association was found in male population (overall p<0.01; the lowest Hgb levels, HR, 1.17; 95% CI, 1.05 to 1.33) but an inverse J-shaped association was found in female population (non-linear p=0.01; HR, 1.25; 95% CI, 0.96 to 1.63; HR, 2.58; 95% CI, 1.21 to 5.50). Conclusions: Both low and high Hgb levels were associated with an increased risk of death from various causes, and some diseases showed different patterns according to sex.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.33 no.2
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• pp.89-96
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• 2022

Background and Objectives The quality of life after thyroidectomy, such as voice change, is considered to be as important as control of the disease. In this study, we aimed to evaluate changes in both subjective and objective voice parameters after thyroidectomy resulting in normal morbidity of the vocal cords. Materials and Method In this prospective cohort study, 204 patients who underwent thyroidectomy with or without central neck dissection at a single referral center from Feb 2015 to Aug 2016 were enrolled. All patients underwent prospective voice evaluations including both subjective and objective assessments preoperatively and then at 2 weeks, 3, 6, and 12 months postoperatively. Temporal changes of the voice parameters were analyzed. Results Values of the subjective assessment tool worsened during the early postoperative follow-up period and did not recover to the preoperative values at 12 months postoperatively. The maximal phonation time gradually decreased, whereas most objective parameters, including maximal vocal pitch (MVP), reached preoperative values at 3-6 months postoperatively. The initial decrease in MVP was significantly greater in patients undergoing total thyroidectomy, and their MVP recovery time was faster than that of patients undergoing lobectomy (p=0.001). Patients whose external branch of the superior laryngeal nerve was confirmed intact by electroidentification showed no difference in recovery speed compared with patients without electroindentification (p=0.102), although the initial decrease in MVP was lower with electroidentification. Conclusion Subjective assessment in voice quality and maximal phonation time after thyroidectomy did not show recovery to preoperative values. Aggravation of MVP was associated with surgical extent and electroidentification.

• Archives of Plastic Surgery
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• v.47 no.3
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• pp.235-241
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• 2020

Background This is the first clinical study conducted among Asian women using breast implants manufactured by an Asian company. Four-year data regarding the safety and efficacy of BellaGel breast implants have already been published, and we now report 6-year data. Methods This study was designed to take place over 10 years. It included 103 patients who underwent breast reconstruction or augmentation using BellaGel breast implants. The rates of implant rupture and capsular contracture were measured and analyzed to evaluate the effectiveness of the breast implant. Results At patients' 6-year postoperative visits, the implant rupture and capsular contracture rates were 1.15% and 2.30%, respectively. The implant rupture rate was 3.77% among reconstruction cases and 0% among augmentation cases. The capsular contracture rate was 5.66% among reconstruction cases and 0.83% among augmentation cases. Conclusions The 6-year data from this planned 10-year study suggest that the BellaGel cohesive silicone gel-filled breast implant is an effective and safe medical device that can be used in breast reconstruction and augmentation.

• Acute and Critical Care
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• v.33 no.4
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• pp.230-237
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• 2018

Background: Socioeconomic status (SES) is closely associated with health outcomes, including mortality in critically ill patients admitted to intensive care unit (ICU). However, research regarding this issue is lacking, especially in countries where the National Health Insurance System is mainly responsible for health care. This study aimed to investigate how the SES of ICU patients in South Korea is associated with mortality. Methods: This was a retrospective observational study of adult patients aged ${\geq}20$ years admitted to ICU. Associations between SES-related factors recorded at the time of ICU admission and 30-day and 1-year mortalities were analyzed using univariable and multivariable Cox regression analyses. Results: A total of 6,008 patients were included. Of these, 394 (6.6%) died within 30 days of ICU admission, and 1,125 (18.7%) died within 1 year. Multivariable Cox regression analysis found no significant associations between 30-day mortality after ICU admission and SES factors (P>0.05). However, occupation was significantly associated with 1-year mortality after ICU admission. Conclusions: Our study shows that 30-day mortality after ICU admission is not associated with SES in the National Health Insurance coverage setting. However, occupation was associated with 1-year mortality after ICU admission.

• Dementia and Neurocognitive Disorders
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• v.22 no.1
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• pp.1-15
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• 2023

The Seoul Neuropsychological Screening Battery (SNSB) is known as a representative comprehensive neuropsychological evaluation tool in Korea since its first standardization in 2003. It was the main neuropsychological evaluation tool in the Clinical Research Center for Dementia of South Korea, a large-scale multi-center cohort study in Korea that was started in 2005. Since then, it has been widely used by dementia clinicians, and further solidified its status as a representative dementia evaluation tool in Korea. Many research results related to the SNSB have been used as a basis for the diagnosis and evaluation of patients in various clinical settings, especially, in many areas of cognitive assessment, including dementia evaluation. The SNSB version that was updated in 2012 provides psychometrically improved norms and indicators through a model-based standardization procedure based on a theoretical probability distribution in the norm's development. By providing a score for each cognitive domain, it is easier to compare cognitive abilities between domains and to identify changes in cognitive domain functions over time. Through the development of the SNSB-Core, a short form composed of core tests, which also give a composite score was provided. The SNSB is a useful test battery that provides key information on the evaluation of early cognitive decline, analysis of cognitive decline patterns, judging the severity of dementia, and differential diagnosis of dementia. This review will provide a broad understanding of the SNSB by describing the test composition, contents of individual subtests, characteristics of standardization, analysis of the changed standard score, and related studies.

• Journal of Chest Surgery
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• v.57 no.4
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• pp.342-350
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• 2024

Background: The maintenance of antiplatelet therapy increases the risk of bleeding during lung cancer surgery. Conversely, the perioperative interruption of antiplatelet therapy may result in serious thrombotic complications. This study aimed to investigate the safety of continuing antiplatelet therapy in the context of lung cancer surgery. Methods: We retrospectively reviewed a cohort of 498 elderly patients who underwent surgery for lung cancer. These patients were categorized into 2 groups: group N, which did not receive antiplatelet therapy, and group A, which did. Group A was subsequently subdivided into group Am, where antiplatelet therapy was maintained, and group Ai, where antiplatelet therapy was interrupted. We compared the incidence of bleeding-related and thrombotic complications across the 3 groups. Results: There were 387 patients in group N and 101 patients in group A (Ai: 70, Am: 31). No significant differences were found in intraoperative blood loss, thoracotomy conversion rates, transfusion requirements, volume of chest tube drainage, or reoperation rates for bleeding control between groups N and A or between groups Am and Ai. The duration of hospital stay was longer for group A compared to group N (7 days vs. 6 days, p=0.005), but there was no significant difference between groups Ai and Am. The incidence of cardiovascular or cerebrovascular complications did not differ significantly between groups Ai and Am. However, group Ai included a severe case of in-hospital ST-elevation myocardial infarction. Conclusion: The maintenance of antiplatelet therapy was found to be safe in terms of perioperative bleeding and thrombotic complications in elderly lung cancer surgery patients.

• Korean Circulation Journal
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• v.52 no.10
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• pp.771-781
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• 2022

Background and Objectives: Although long QT syndrome (LQTS) is a potentially life-threatening inherited cardiac channelopathy, studies documenting the long-term clinical data of Korean patients with LQTS are scarce. Methods: This retrospective cohort study included 105 patients with LQTS (48 women; 45.7%) from a single tertiary center. The clinical outcomes were analyzed for the rate of freedom from breakthrough cardiac events (BCEs), additional treatment needed, and death. Results: LQTS was diagnosed at a median age of 11 (range, 0.003-80) years. Genetic testing was performed on 90 patients (yield, 71.1%). The proportions of genetically confirmed patients with LQTS types 1, 2, 3, and others were 34.4%, 12.2%, 12.2%, and 12.2%, respectively. In the symptomatic group (n=70), aborted cardiac arrest was observed in 30% of the patients. Treatments included medications in 60 patients (85.7%), implantable cardioverter-defibrillators in 27 (38.6%; median age, 17 years; range, 2-79 years), and left cardiac sympathetic denervation surgery in 7 (10%; median age, 13 years; range, 2-34). The 10-year BCE-free survival rate was 73.2%. By genotype, significant differences were observed in BCEs despite medication (p<0.001). The 10-year BCE-free survival rate was the highest in patients with LQTS type 1 (81.8%) and the lowest in those with multiple LQTS-associated mutations (LQTM). All patients with LQTS survived, except for one patient who had LQTM. Conclusions: Good long-term outcomes can be achieved by using recently developed genetically tailored management strategies for patients with LQTS.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.4
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• pp.358-368
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• 2019

Purpose: Pediatric Crohn's disease (CD) is directly related to growth and has a high probability of requiring surgical intervention(s); therefore, more active treatment for CD is required for children. This study investigated the impact of biologics on growth and disease course associated with surgery. Methods: This was a retrospective cohort study involving patients diagnosed with CD at the Seoul National University Children's Hospital (Seoul, Korea) between January 2006 and October 2017. The aim was to determine the characteristics of pediatric patients with CD and whether biologics affected growth and the surgical disease course. Results: Among patients who underwent surgery for CD, the mean number of operations per patient was 1.89. The mean time from initial diagnosis to surgery was 19.3 months. The most common procedure was fistulectomy (34%), followed by incision and drainage (25%). In all patients, the use of biologics increased the height (p=0.002) and body mass index (BMI) (p=0.005). Among patients who underwent surgery, height (p=0.004) and BMI (p=0.048) were increased in the group using biologics. Patients who used biologics exhibited a low operation rate only within 2 years after diagnosis, with no differences thereafter (p=0.027). Conclusion: Although biologics could not mitigate the operation rate in pediatric patients who underwent surgery for CD, biological therapy delayed disease progression within 2 years of disease onset. Additionally, biologics conferred growth and BMI benefits in this window period. Therefore, it may be helpful to use biologics for optimal growth in pediatric patients with a high probability of undergoing future surgery.