Purpose: Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world. Materials and Methods: We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis. Results: NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs. Conclusion Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.

Purpose: Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world. Materials and Methods: We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis. Results: NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs. Conclusion Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.

Purpose: Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world. Materials and Methods: We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis. Results: NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs. Conclusion Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.

BACKGROUND: Few scales are currently available to evaluate changes in hand volume. We aimed to develop a hand grading scale for quantitative assessments of dorsal hand volume with additional consideration of changes in skin texture; to validate and prove the precision and reproducibility of the new scale; and to demonstrate the presence of clinically significant differences between grades on the scale. METHODS: Five experienced plastic surgeons developed the Hand Volume Rating Scale (HVRS) and rated 91 images. Another five plastic surgeons validated the scale using 50 randomly selected images. Intra- and inter-rater agreement was calculated using the weighted kappa statistic and intraclass correlation coefficients (ICCs). Paired images were also evaluated to verify whether the scale reflected clinical differences. RESULTS: The intra-rater agreement was 0.95 (95% confidence interval, 0.922–0.974). The interrater ICCs were excellent (first rating, 0.94; second rating, 0.94). Image pairs that differed by 1, 2, and 3 grades were considered to contain clinically relevant differences in 80%, 100%, and 100% of cases, respectively, while 84% of image pairs of the same grade were found not to show clinically relevant differences. This confirmed that the scale of the HVRS corresponded to clinically relevant distinctions. CONCLUSIONS: The scale was proven to be precise, reproducible, and reflective of clinical differences.
Asian Continental Ancestry Group ; Hand ; Humans ; Plastics ; Rejuvenation ; Skin ; Skin Aging ; Surgeons ; Weights and Measures

BACKGROUND AND OBJECTIVES: Laryngopharyngeal reflux disease (LPRD) is relatively common disease. N-acetyl cysteine (NAC) has both mucolytic and antioxidant effect, also may be beneficial in inflammatory airway diseases. The purpose of this study was to evaluate the efficacy and safety of inhaled NAC therapy in LPRD. MATERIALS AND METHODS: We retrospectively reviewed the medical records of 525 LPRD patients at 12 medical centers. Finally 401 patients subjected to inhaled NAC therapy for 2 months were enrolled in the study. We analyzed the change of Reflux Symptom Index (RSI) and Reflux Finding Score (RFS) after use of NAC for 4 weeks and 8 weeks in addition to the patient's compliance of the treatment. RESULTS: The RSI score significantly decreased from 19.87±6.34 to 12.78±6.93 after 4 weeks and to 10.65±7.47 after 8 weeks. The RFS score also significantly decreased from 9.29±3.4 to 7.17±3.41 after 4 weeks and to 6.1±3.73 after 8 weeks (p<0.05). During the treatment periods, 42 patients (10.4%) reported to have 80 episodes of discomfort. Throat discomfort (33%) and nausea (28%) were most common complaints, but the duration of discomfort was usually less than 4 weeks. CONCLUSION: Inhaled NAC treatment is highly effective for the reduction of both subjective and objective findings in LPRD patients. This study will provide the evidence of new treatment option for patients with LPRD. However, further studies will be needs to assess the real effect of inhaled NAC therapy as a standard treatment regimen of LPRD.
Antioxidants ; Compliance ; Cysteine ; Cystine ; Humans ; Inhalation ; Laryngopharyngeal Reflux ; Medical Records ; Nausea ; Pharynx ; Retrospective Studies

PURPOSE: The nature of allergic rhinitis (AR) in preschool aged children remains incompletely characterized. This study aimed to investigate the prevalence of AR and its associated risk factors in preschool-aged children and to assess the clinical utility of fractional exhaled nitric oxide (FeNO). METHODS: This general population-based, cross-sectional survey included 933 preschool-aged (3- to 7-year-old) children from Korea. Current AR was defined as having nasal symptoms within the last 12 months and physician-diagnosed AR. RESULTS: The prevalence of current AR in preschool children was 17.0% (156/919). Mold exposure (adjusted odds ratio [aOR], 1.67; 95% confidence interval [CI], 1.15-2.43) and the use of antibiotics (aOR, 1.97; 95% CI, 1.33-2.90) during infancy were associated with an increased risk of current AR, whereas having an older sibling (aOR, 0.52; 95% CI, 0.35-0.75) reduced the risk. Children with current atopic AR had significantly higher geometric mean levels of FeNO compared to those with non-atopic rhinitis (12.43; range of 1standard deviation [SD], 7.31-21.14 vs 8.25; range of 1SD, 5.62-12.10, P=0.001) or non-atopic healthy children (8.58; range of 1SD, 5.51-13.38, P<0.001). The FeNO levels were higher in children with current atopic AR compared with atopic healthy children (9.78; range of 1SD, 5.97-16.02, P=0.083). CONCLUSIONS: Mold exposure and use of antibiotics during infancy increases the risk of current AR, whereas having an older sibling reduces it. Children with current atopic AR exhibit higher levels of FeNO compared with non-atopic rhinitis cases, suggesting that FeNO levels may be a useful discriminatory marker for subtypes of AR in preschool children.
Anti-Bacterial Agents ; Child ; Child, Preschool* ; Cross-Sectional Studies ; Fungi ; Humans ; Korea ; Nitric Oxide ; Odds Ratio ; Prevalence ; Rhinitis ; Rhinitis, Allergic* ; Risk Factors ; Siblings

PURPOSE: We analyzed the pulmonary function and risk factors of allergic rhinitis (AR) in dust mite-sensitized children with current AR and no history of asthma. METHODS: In this cross-sectional study, demographic and disease-related information was obtained from 1,792 Korean children aged 9-12 years using a questionnaire, skin-prick testing, spirometric analysis, and methacholine challenge testing. RESULTS: A total of 672 children were analyzed. The control group consisted of 583 children without any allergic diseases who were not sensitized to 16 common allergens. The group with current AR and dust mite sensitization consisted of 89 children. Binary logistic regression analysis showed that helminth infection (adjusted odds ratio [aOR], 2.88; 95% confidence interval [CI], 1.23-6.77) and antibiotic use during infancy (aOR, 1.89; 95% CI, 1.10-3.25) were the risk factors. Pet ownership (aOR, 0.32; 95% CI, 0.15-0.69) and older siblings (aOR, 0.58; 95% CI, 0.35-0.96) were protective factors. Spirometry results did not differ between the control and dust mite-induced AR groups. None of the children showed a bronchodilator response. However, 8.5%, 7.1%, and 2.1% of the control-group children and 28.7%, 23.0%, and 8.0% of the dust mite-induced AR-group children showed methacholine PC20 (provocative concentration of methacholine causing a 20% fall in forced expiratory volume in 1 second) values of < or =25 mg/mL, < or =16 mg/mL, and < or =8 mg/mL, respectively (P<0.01). CONCLUSION: The prevalence of current dust mite-induced AR may be reduced by controlling environmental factors. Even though the spirometry results seemed to be normal, bronchial hyperresponsiveness occurred more frequently in children with dust mite-induced AR than in normal children.
Allergens ; Asthma ; Bronchial Hyperreactivity ; Child ; Cross-Sectional Studies ; Dust* ; Forced Expiratory Volume ; Helminths ; Humans ; Logistic Models ; Lung* ; Methacholine Chloride ; Mites ; Odds Ratio ; Ownership ; Prevalence ; Rhinitis* ; Risk Factors* ; Siblings ; Spirometry

OBJECTIVES: The Korean version of the Oswestry Disability Index (ODI) is the most widely used tool validated instrument for measuring and the level of disability associated with low back disorders. We wanted to validate use of the Korean version of the ODI in Korean farmers with low back pain. METHODS: The object of this study was to examine the reliability and validity of the Korean version of the ODI. The Korean version was tested on 53 farmers (62.3+/-10.3 years of age) with low back-related disorders. We investigated the Test-retest reliability, internal consistency, and construct validity of the ODI. The Test-retest reliability was assessed in 30 farmers within a time interval of approximately 14 to 18 days. Differences between the Korean version of the ODI and the Short Form 12 (SF-12), which includes 8 domains (general health, physical functioning, role-physical limitation, bodily pain, role-emotional limitation, mental health, vitality, social functioning) were analyzed for construct validity. The correlation of the Korean version of the ODI with the SF-12 was analyzed, as well. RESULTS: The intra-class correlation coefficient of test-retest reliability was 0.854. Reliability estimated by the internal consistency reached a Cronbach's alpha of 0.879. The correlation between 7 domains of the SF-12 except for the mental health domain and the Korean version of the ODI was statistically significant (p<0.05). Four domains (general health, physical functioning, role-physical limitation, bodily pain) that measured physical status all showed high correlations (p<0.01), as did a domain that measured mental status (role-emotional limitation) (p<0.01). CONCLUSIONS: The results showed that the Korean version of the ODI is a reliable and valid instrument to measure the level of disability in Korean farmers with low back-related disorders. The use of this instrument is recommended for future clinical trials in Korea.
Korea ; Low Back Pain ; Mental Health ; Pilot Projects ; Reproducibility of Results

PURPOSE: Leukotriene receptor antagonists (LTRAs) are used to treat aspirin-intolerant asthma (AIA); however, the protective effects of long-term LTRA administration against aspirin-induced bronchospasm have not been evaluated. OBJECTIVES: We investigated the efficacy of a 12-week treatment with a LTRA in protecting against aspirin-induced asthma in AIA patients. METHODS: Fifty-two adult patients with AIA underwent an aspirin challenge test just before administration of montelukast (10 mg/day) and just after 12 weeks of treatment. The protective effect was assessed as the disappearance of aspirin-induced bronchospasm after 12 weeks of treatment. The results were compared according to the patients' clinical and physiological parameters. RESULTS: The decline in FEV1 following aspirin challenge was significantly reduced from 28.6+/-1.9% to 10.2+/-1.7% (P=0.0001) after 12 weeks of montelukast treatment. However, 14 subjects (30%) still showed a positive response (>15% decline in FEV1) to aspirin challenge. Grouping the subjects into good and poor responders according to post-treatment responses revealed that the pretreatment aspirin-induced FEV1 decline was significantly greater in the poor responders and that the triggering dose of aspirin and the induction time for a positive response were lower and shorter, respectively, in the poor responders. Histories of aspirin hypersensitivity and sinusitis were more prevalent among the poor responders than among the good responders. CONCLUSIONS: Twelve weeks of treatment with montelukast protected against aspirin-induced bronchospasm in 70% of the AIA cases. A poor response was associated with more severe aspirin-induced bronchospasms before treatment and a history of aspirin hypersensitivity or sinusitis. CLINICAL IMPLICATIONS: A severe response to aspirin challenge may be a predictor of poor responsiveness to leukotriene antagonist treatment.
Acetates ; Adult ; Aspirin ; Asthma ; Asthma, Aspirin-Induced ; Bronchial Spasm ; Eosinophils ; Humans ; Hypersensitivity ; Leukotriene Antagonists ; Quinolines ; Receptors, Leukotriene ; Sinusitis

This study was conducted to measure and evaluate the food and nutrient intakes of the people living near the nuclear plant and to investigate the relationship between the household income level and the food and nutrient intake patterns. A total of 552 cases (263 males and 289 females) were surveyed during the period from April 1 to December 21 of 2005. Dietary intake was measured by means of the 24-hour recall method. The data were analyzed using SPSS Windows (ver. 14.0). The household income level of the subjects was classified into two groups : Low income group (LIG; < or = 2,000,000 won) and high income group (HIG; > 2,000,000). The subjects at large had less energy and nutrient intakes than did the population in town and village who participated in the 2005 National Health and Nutrition Survey. The intake of calcium, zinc, vitamin A, riboflavin, vitamin B6, vitamin C, and folic acid was less than the Estimated Average Requirement in case of 50~95% of the subjects. The LIG consumed less beans, vegetables, fruits, meats, and beverages than did the HIG in male, while the LIG consumed less eggs and beverages than did the HIG in female. The LIG consumed less nutrients than did the HIG in male, except for carbohydrate, while the LIG consumed less nutrients including zinc, vitamin A, riboflavin, vitamin B6, vitamin C, folic acid than did the HIG in female. In addition, the LIG had higher percentage energy consumption from carbohydrate. These results suggest that higher food and nutrient intake is associated with higher income.
Ascorbic Acid ; Beverages ; Calcium ; Eggs ; Fabaceae ; Family Characteristics ; Female ; Folic Acid ; Fruit ; Humans ; Male ; Meat ; Nutrition Surveys ; Ovum ; Plants ; Riboflavin ; Vegetables ; Vitamin A ; Vitamin B 6 ; Zinc