1.Retinal Dystrophy Associated with a Novel RP2 Exon1 Deletion with Simultaneous TGFBI Point Mutation in Two Male Siblings: Case Report
Sang Uk CHOI ; Beom Hee LEE ; Soyoung LEE ; Young Seok JU ; Jeong Seok LEE ; Joo Yong LEE
Journal of Retina 2024;9(1):81-88
Purpose:
We report two cases of retinal dystrophy with high myopia associated with a novel retinitis pigmentosa 2 (RP2) exon1 deletion and a simultaneous transforming growth factor β-induced (TGFBI) point mutation.Case summary: The patients were two male siblings previously diagnosed with retinitis pigmentosa. They had a maternal family history of granular corneal dystrophy, and both presented with high myopia of ≥ -7.00 diopters (D). On ophthalmologic imaging, they displayed identical symmetric diffuse retinal dystrophy with hyperpigmented bony spicules in both eyes. Optical coherence tomography revealed diffuse thinning of the neurosensory retina and disruption of the ellipsoid zone. Full-field electroretinography showed nearly flattened cone and rod responses. Although targeted next-generation sequencing did not reveal any mutations in either case, whole-exome sequencing confirmed the existence of a single heterozygous TGFBI point mutation (c.371G>A(p.(Arg124His))) in both patients. Subsequent whole genome sequencing (WGS) confirmed novel RP2 exon1 deletion (c.-37_c.102+581del (720bp)).
Conclusions
In this case of familial hereditary granular corneal dystrophy, there were difficulties diagnosing and interpreting the genetic test results because of the very rare RP2 deletion. Prior to WGS, it was thought that retinal dystrophy could be attributed to an atypical clinical feature associated with the TGFBI mutation and high myopia. Retinal specialists who diagnose and manage these patients are advised to compile plans that consider appropriate genetic testing and interpretation of the outcomes.
2.Prediction of Microsatellite Instability in Colorectal Cancer Using a Machine Learning Model Based on PET/CT Radiomics
Soyoung KIM ; Jae-Hoon LEE ; Eun Jung PARK ; Hye Sun LEE ; Seung Hyuk BAIK ; Tae Joo JEON ; Kang Young LEE ; Young Hoon RYU ; Jeonghyun KANG
Yonsei Medical Journal 2023;64(5):320-326
Purpose:
We investigated the feasibility of preoperative 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET)/ computed tomography (CT) radiomics with machine learning to predict microsatellite instability (MSI) status in colorectal cancer (CRC) patients.
Materials and Methods:
Altogether, 233 patients with CRC who underwent preoperative FDG PET/CT were enrolled and divided into training (n=139) and test (n=94) sets. A PET-based radiomics signature (rad_score) was established to predict the MSI status in patients with CRC. The predictive ability of the rad_score was evaluated using the area under the receiver operating characteristic curve (AUROC) in the test set. A logistic regression model was used to determine whether the rad_score was an independent predictor of MSI status in CRC. The predictive performance of rad_score was compared with conventional PET parameters.
Results:
The incidence of MSI-high was 15 (10.8%) and 10 (10.6%) in the training and test sets, respectively. The rad_score was constructed based on the two radiomic features and showed similar AUROC values for predicting MSI status in the training and test sets (0.815 and 0.867, respectively; p=0.490). Logistic regression analysis revealed that the rad_score was an independent predictor of MSI status in the training set. The rad_score performed better than metabolic tumor volume when assessed using the AUROC (0.867 vs. 0.794, p=0.015).
Conclusion
Our predictive model incorporating PET radiomic features successfully identified the MSI status of CRC, and it also showed better performance than the conventional PET image parameters.
3.Newly developed care food enhances grip strength in older adults with dysphagia: a preliminary study
Hyejin HAN ; Yoonhee PARK ; Hyeji KWON ; Yeseung JEONG ; Soyoung JOO ; Mi Sook CHO ; Ju Yeon PARK ; Hee-Won JUNG ; Yuri KIM
Nutrition Research and Practice 2023;17(5):934-944
BACKGROUND/OBJECTIVES:
Maintaining total muscle mass in the older adults with swallowing difficulty (dysphagia) is important for preserving swallowing function. Increasing protein intake can help sustain lean body mass in the older adults. The aim of this study was to evaluate the effect of various high-protein texture-modified foods (HPTMFs) on muscle mass and perform dietary assessment in ≥ 65-yrs-old patients with dysphagia.
SUBJECTS/METHODS:
Participants (n = 10) received the newly developed HPTMFs (average 595.23 ± 66.75 kcal/day of energy, 54.22 ± 6.32 g/day of protein) for 10 days. Relative handgrip strength (RHS), mid-upper arm circumference (MUAC), body composition, mini nutritional assessment (MNA), mini dietary assessment (MDA), and Euro Quality-of-Life questionnaire 5-dimensional classification (EQ-5D) were assessed.
RESULTS:
After 10 days, an increase in MUAC (26.36 ± 2.35 cm to 28.50 ± 3.17 cm, P = 0.013) and RHS (0.38 ± 0.24 kg/kg body weight to 0.42 ± 0.22 kg/kg body weight, P = 0.046) was observed. Although MNA, MDA, EQ-5D, subjective health status, muscle mass, and calf circumference showed a tendency to increase after intervention, no significant differences were found.
CONCLUSIONS
These results suggest that the HPTMFs can be used for improving the nutritional and health status in patients with dysphagia.
4.Catastrophizing Maladaptive Coping Affects the Association Between Viral Anxiety and Fear of Progression in Cancer Patients During COVID-19 Pandemic
Hyuk Joo LEE ; Cheolkyung SIN ; Hyeyeong KIM ; Hyeon-Su IM ; Jae-Cheol JO ; Yoo Jin LEE ; Youjin KIM ; Junseok AHN ; Soyoung YOO ; Su-Jin KOH ; Seockhoon CHUNG
Psychiatry Investigation 2023;20(12):1204-1210
Objective:
The aim of the present study was to explore whether or not cancer patients’ viral anxiety and depression during the coronavirus-2019 (COVID-19) pandemic were associated with a fear of cancer progression. We also assessed whether coping strategies affected the relationship.
Methods:
The present cross-sectional survey included cancer patients who visited Ulsan University Hospital in Ulsan, Korea. The participants’ demographic information and responses to the following symptoms rating scales were collected: Stress and Anxiety to Viral Epidemic–6; Patient Health Questionnaire–9; Cognitive Emotion Regulation Questionnaire-short version; or Fear of Progression Questionnaire-short version.
Results:
Of the 558 cancer patients surveyed, 25 (4.5%) reported that their treatment schedule was delayed during the COVID-19 pandemic. The patients’ fear of progression was found to be related to age (β=-0.08; p=0.011), viral anxiety (β=0.40; p<0.001), depression (β=0.26; p<0.001), and catastrophizing coping strategies (β=0.15; p=0.004), for an overall adjusted R2 of 0.46 (F=66.8; p<0.001). Mediation analysis showed that viral anxiety and depression were directly associated with fear of progression, while catastrophizing mediated this relationship.
Conclusion
Fear of progression in cancer patients was associated with viral anxiety, depression, and maladaptive coping techniques, such as catastrophizing, during the COVID-19 pandemic.
5.A Memorial Tribute to Kyoung-Min Lee: An Outstanding Behavioral Neurologist and Cognitive Neuroscientist
Sung-Ho WOO ; Hyeon-Ae JEON ; Soyoung KANG ; Hyeyeon JOO ; Min-Hee SEO ; Eunbeen LEE ; Jae-Hyeok HEO ; Jeong-In CHA ; Jeh-Kwang RYU ; Min-Jeong KIM
Journal of Clinical Neurology 2022;18(6):603-609
6.Korean Clinical Practice Guideline for the Diagnosis and Treatment of Insomnia in Adults
Hayun CHOI ; Soyoung YOUN ; Yoo Hyun UM ; Tae Won KIM ; Gawon JU ; Hyuk Joo LEE ; Chungsuk LEE ; Sang Don LEE ; Kyungyeol BAE ; Seong Jae KIM ; Ji Hyun LEE ; Tae KIM ; Seockhoon CHUNG
Psychiatry Investigation 2020;17(11):1048-1059
Objective:
We aim to present a clinical guideline for the diagnosis and treatment of insomnia in adults by reviewing and integrating existing clinical guidelines. The purpose of this guideline is to assist clinicians who perform evidence-based insomnia treatment.
Methods:
We selected literature that may be appropriate for use in guideline development from evidence-based practice guidelines that have been issued by an academic or governmental institution within the last five years. The core question of this guideline was made in sentence form including Patient/Problem, Intervention, Comparison, Outcome (PICO) elements. After searching PubMed, EMBASE, and medical guideline issuing agencies, three guidelines were judged to be the most appropriately reviewed, up-to-date, and from trusted sources.
Results:
The Appraisal of Guidelines for Research and Evaluation (AGREE) II tool was used to evaluate the quality of the three clinical guidelines. The final outcome of the guideline development process is a total of 15 recommendations that report the strength of the recommendation, the quality of evidence, a summary of content, and considerations in applying the recommendation.
Conclusion
It is vital for clinical guidelines for insomnia to be developed and continually updated in order to provide more accurate evidence-based treatments to patients.
7.Analysis of Research Topics and Trends in the Journal of Korean Academy of Nursing to Improve Its International Influence
Soyoung YU ; Jeung-Im KIM ; Jin-Hee PARK ; Sun Joo JANG ; Eunyoung E. SUH ; Ju-Eun SONG ; YeoJin IM
Journal of Korean Academy of Nursing 2020;50(4):501-512
Purpose:
The purpose of this study was to analyze articles published in the Journal of the Korean Academy of Nursing (JKAN) between 2010 and 2019, along with those published in three international nursing journals, to improve JKAN’s international reputation.
Methods:
The overall characteristics of JKAN’s published papers and keywords, study participants, types of nursing interventions and dependent variables, citations, and cited journals were analyzed. Additionally, the keywords and study designs, publication-related characteristics, journal impact factors (JIF), and Eigenfactor scores of International Journal of Nursing Studies (IJNS), International Nursing Review (INR), Nursing & Health Sciences (NHS), and JKAN were analyzed and compared.
Results:
Among the four journals, JKAN’s score was the lowest in both the journal impact factor and Eigenfactor score. In particular, while the JIF of INR and NHS has been continuously increasing; JKAN’s JIF has remained static for almost 10 years. The journals which had cited JKAN and those which JKAN had cited were mainly published in Korean.
Conclusion
JKAN still has a low IF and a low ranking among Social Citation Index (E) journals during the past 10 years, as compared to that of four international journals. To enhance JKAN’s status as an international journal, it is necessary to consider publishing it in English and to continuously improve the conditions of other publications.
8.Development of Caring as a Human Science: 50 Years of History of the Korean Society of Nursing Science
Jeung-Im KIM ; Eunyoung E. SUH ; Ju-Eun SONG ; YeoJin IM ; Jin-Hee PARK ; Soyoung YU ; Sun Joo JANG ; Da-Hee KIM
Journal of Korean Academy of Nursing 2020;50(3):313-332
Purpose:
This year 2020 marks the 50th anniversary of the founding of the Korean Society of Nursing Science (KSNS). This study wasaimed to explore development of caring and describe the 50 years of history of KSNS within the sociocultural context of Korea regardingacademic footsteps, meanings, and implications for the future.
Methods:
This study used a historical research methodology using a literaturereview and bibliometric analysis. Relevant literature was reviewed and the published abstracts in the Journal of Korean Academy ofNursing (JKAN) were analyzed using VOSviewer.
Results:
Birth control and family planning in the 1970s was the main research topic. In the1980s, the development of nursing concepts, theories, and philosophies was the mission of KSNS to extend the disciplinary boundary. In the1990s, the progress of KSNS to become one of the woman-dominant healthcare professionals was the mission in the given period. Expandingthe frontiers of KSNS to the extent of global standards was the undertaking of the nursing scholars in the 2000s. Lastly, in the 2010s,the quality and quantity improvement of KSNS and JKAN is expected to make our future even prosperous. The map visualization of the 50years of research accumulation showed the comparable opposition of quantitative vs. qualitative research methodologies, equation modeling,and instrument development.
Conclusion
These clusters of research demonstrates the efforts to make nursing evidence by Koreannursing scholars for the last five decades. The growth in the slope of KSNS and outcomes of JKAN are to carry on to an unimaginable extentin the future.
9.Productivity Loss of Rheumatoid Arthritis Patients according to the Their Stages of the Disease Activity Score.
Sang Cheol BAE ; Jin Hye CHA ; Jung Yoon CHOE ; Sung Jae CHOI ; Soo Kyung CHO ; Won Tae CHUNG ; Chung Il JOUNG ; Young Ok JUNG ; Young Mo KANG ; Dong Wook KIM ; Jinseok KIM ; Young Joo KIM ; Choong Ki LEE ; Hye Soon LEE ; Jisoo LEE ; Sang Heon LEE ; Sang Hoon LEE ; Shin Seok LEE ; Yeon Ah LEE ; Seong Su NAH ; Seung Cheol SHIM ; Gwan Gyu SONG ; Chang Hee SUH ; Soyoung WON ; Wan Hee YOO ; Bo Young YOON
Journal of Rheumatic Diseases 2018;25(2):122-130
OBJECTIVE: Productivity loss was compared by 3-stage of disease activity and associations between higher disease activity and high productivity loss were identified. METHODS: Data were extracted from Rheumatoid Arthritis (RA) Patient-reported Outcomes Research, which enrolled 2,000 RA patients (>20-year) on disease-modifying-antirheumatic-drugs (DMARDs) (≥6-month) from December 2012 to June 2013. This included 1,457 RA patients with the disease activity score (DAS-28-ESR) in their medical charts. Productivity loss in time and indirect cost was estimated using The World Health Organization Health and Work Performance Questionnaire (HPQ). Baseline characteristics and productivity loss outcomes were compared according to DAS-28-ESR groups. RESULTS: 84.4% were females, 54.2% had low DAS-28-ESR ( < 3.2), and 38.2% and 7.6% had moderate (3.2∼5.1) and high DAS-28-ESR (>5.1). Patients with moderate to high DAS-28-ESR had higher lost productivity time (LPT) and monthly costs of LPT than those with low DAS-28-ESR (time in hours: 110.0±58.4 vs. 132.4±57.2 vs. 71.5±52.0, p < 0.0001; monthly costs of LPT in 1,000 Korean won: 1,097±607 vs. 1,302±554 vs. 741±531, p < 0.0001). Multiple regression analyses revealed significant associations with high LPT in high (adjusted odds ratio [OR]=3.87, 95% confidence interval [CI]: 2.18∼6.87) and moderate DAS-28-ESR (adjusted OR=1.88, 95% CI: 1.41∼2.52) compared to low DAS-28-ESR. In addition, positive associations with high monthly costs of LPT were observed in high (adjusted OR=3.45, 95% CI: 1.98∼5.99) and moderate DAS-28-ESR (adjusted OR=1.93, 95% CI: 1.43∼2.54) compared to low DAS-28-ESR. CONCLUSION: Timely therapeutic strategies should be taken into consideration given that the RA patients with moderate to high DAS-28-ESR showed strong associations with high productivity loss for effective management of RA.
Arthritis, Rheumatoid*
;
Efficiency*
;
Female
;
Humans
;
Odds Ratio
;
Outcome Assessment (Health Care)
;
Work Performance
;
World Health Organization
10.Alterations of Gefitinib Pharmacokinetics by Co-administration of Herbal Medications in Rats.
Kwon-Yeon WEON ; Min Gi KIM ; Soyoung SHIN ; Tae Hwan KIM ; Sang Hoon JOO ; Eunsook MA ; Seok Won JEONG ; Sun Dong YOO ; Yu Seok YOUN ; Beom Soo SHIN
Chinese journal of integrative medicine 2018;24(6):460-466
OBJECTIVETo evaluate the potential pharmacokinetic interactions of the anticancer agent gefitinib (Iressa®) and the oriental medications Guipi Decoction (, GPD, Guibi-tang in Korean) and Bawu Decoction (, BWD, Palmul-tang in Korean).
METHODSMethylcellulose (MC, control), GPD (1,200 mg/kg), or BWD (6,000 mg/kg) was orally administered to rats either as a single dose or multiple doses prior to gefitinib administration. To examine the effects of a single dose of the herbal medicines, gefitinib (10 mg/kg) was orally administered after 5 min or 1 h of MC or the herbal medicine pretreatments. To examine the effects of the multiple doses of the herbal medicines, gefitinib (10 mg/kg) was orally administered following 7 consecutive days of the administration of MC or each herbal medicine. The plasma concentrations of gefitinib were determined with liquid chromatography-tandem mass spectrometry assay. The plasma concentration-time profiles of gefitinib were analyzed with a noncompartmental analysis.
RESULTSGefitinib was rapidly absorbed and showed a monoexponential decline with an elimination half-life of 3.7-4.1 h. The pharmacokinetics of gefitinib was not affected by GPD pretreatment. However, a significantly lower maximum plasma concentration (C, P<0.05) and area under the curve (P<0.05), and a delayed time to reach C (T, P<0.01) were observed in both single- and multipledose BWD-pretreated rats compared with the control rats.
CONCLUSIONSBWD and not GPD might delay and interfere with gefitinib absorption. Further evaluations of the clinical significance of these findings are needed.
Animals ; Chromatography, Liquid ; Dose-Response Relationship, Drug ; Drugs, Chinese Herbal ; pharmacology ; Male ; Quinazolines ; administration & dosage ; blood ; pharmacokinetics ; Rats, Sprague-Dawley ; Tandem Mass Spectrometry ; Time Factors

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