1.Sequence Variations of 31 Y-Chromosomal Short Tandem Repeats Analyzed by Massively Parallel Sequencing in Three U.S. Population Groups and Korean Population
Mi Hyeon MOON ; Sae Rom HONG ; Kyoung-Jin SHIN
Journal of Korean Medical Science 2022;37(6):e40-
Background:
Rapidly mutating (RM) Y-chromosomal short tandem repeats (Y-STRs) have been demonstrated to increase the possibility of distinguishing between male relatives due to a higher mutation rate than conventional Y-STRs. Massively parallel sequencing (MPS) can be useful for forensic DNA typing as it allows the detection of sequence variants of many forensic markers. Here, we present sequence variations of 31 Y-STRs including nine RM Y-STRs (DYF387S1, DYF399S1, DYF404S1, DYS449, DYS518, DYS570, DYS576, DYS612, and DYS627), their frequencies, distribution, and the gain in the number of alleles using MPS.
Methods:
We constructed a multiplex MPS assay capable of simultaneously amplifying 32 Y-chromosomal markers, producing amplicons ranging from 85–274 bp. Barcoded libraries from 220 unrelated males from four populations—African Americans, Caucasians, Hispanics, and Koreans—were generated via two-step polymerase chain reaction and sequenced on a MiSeq system. Genotype concordance between the capillary electrophoresis (CE) and MPS method and sequence variation of Y-STRs were investigated.
Results:
In total, 195 alleles were increased by MPS compared to CE-based alleles (261 to 456). The DYS518 marker showed the largest increase due to repeat region variation (a 3.69-fold increase). The highest increase in the number of alleles due to single nucleotide polymorphisms in the flanking region was found in DYF399S1. RM Y-STRs had more diverse sequences than conventional Y-STRs. Furthermore, null alleles were observed in DYS576 due to primer-binding site mutation, and allele drop-outs in DYS449 resulted from low marker coverage of less than the threshold.
Conclusion
The results suggest that the expanded and discriminative MPS assay could provide more genetic information for Y-STRs, especially for RM Y-STRs, and could advance male individualization. Compiling sequence-based Y-STR data for worldwide populations would facilitate the application of MPS in the field of forensic genetics and could be applicable in solving male-related forensic cases.
2.Cyanoacrylate Glue Ablation for Symptomatic Reflux in a Duplicated Femoral Vein:A Case Report
Kilsoo YIE ; Eun-Hee JEONG ; A-Rom SHIN ; Bo-Mi KIM ; Eun-Jung HWANG
Vascular Specialist International 2024;40(4):43-
The literature on minimally invasive techniques specifically targeting reflux in symptomatic femoral vein duplication (FVD) is limited. We present a rare case of symptomatic reflux in FVD, successfully treated with cyanoacrylate glue ablation under ultrasonographic guidance. Our findings suggest that the unique anatomy of FVD can be effectively addressed through percutaneous endovenous glue ablation, providing a technically safe and feasible alternative without open surgery.Our patient experienced symptom resolution, no post-procedural complications, and maintained stable occlusion at a 1-year follow-up. This outcome highlights the potential of endovenous glue ablation as an innovative approach in managing deep vein reflux, particularly in cases involving FVD. To broaden its application in clinical practice, further research is crucial to establish appropriate patient selection criteria and refine treatment protocols.
3.Cyanoacrylate Glue Ablation for Symptomatic Reflux in a Duplicated Femoral Vein:A Case Report
Kilsoo YIE ; Eun-Hee JEONG ; A-Rom SHIN ; Bo-Mi KIM ; Eun-Jung HWANG
Vascular Specialist International 2024;40(4):43-
The literature on minimally invasive techniques specifically targeting reflux in symptomatic femoral vein duplication (FVD) is limited. We present a rare case of symptomatic reflux in FVD, successfully treated with cyanoacrylate glue ablation under ultrasonographic guidance. Our findings suggest that the unique anatomy of FVD can be effectively addressed through percutaneous endovenous glue ablation, providing a technically safe and feasible alternative without open surgery.Our patient experienced symptom resolution, no post-procedural complications, and maintained stable occlusion at a 1-year follow-up. This outcome highlights the potential of endovenous glue ablation as an innovative approach in managing deep vein reflux, particularly in cases involving FVD. To broaden its application in clinical practice, further research is crucial to establish appropriate patient selection criteria and refine treatment protocols.
4.Cyanoacrylate Glue Ablation for Symptomatic Reflux in a Duplicated Femoral Vein:A Case Report
Kilsoo YIE ; Eun-Hee JEONG ; A-Rom SHIN ; Bo-Mi KIM ; Eun-Jung HWANG
Vascular Specialist International 2024;40(4):43-
The literature on minimally invasive techniques specifically targeting reflux in symptomatic femoral vein duplication (FVD) is limited. We present a rare case of symptomatic reflux in FVD, successfully treated with cyanoacrylate glue ablation under ultrasonographic guidance. Our findings suggest that the unique anatomy of FVD can be effectively addressed through percutaneous endovenous glue ablation, providing a technically safe and feasible alternative without open surgery.Our patient experienced symptom resolution, no post-procedural complications, and maintained stable occlusion at a 1-year follow-up. This outcome highlights the potential of endovenous glue ablation as an innovative approach in managing deep vein reflux, particularly in cases involving FVD. To broaden its application in clinical practice, further research is crucial to establish appropriate patient selection criteria and refine treatment protocols.
5.Cyanoacrylate Glue Ablation for Symptomatic Reflux in a Duplicated Femoral Vein:A Case Report
Kilsoo YIE ; Eun-Hee JEONG ; A-Rom SHIN ; Bo-Mi KIM ; Eun-Jung HWANG
Vascular Specialist International 2024;40(4):43-
The literature on minimally invasive techniques specifically targeting reflux in symptomatic femoral vein duplication (FVD) is limited. We present a rare case of symptomatic reflux in FVD, successfully treated with cyanoacrylate glue ablation under ultrasonographic guidance. Our findings suggest that the unique anatomy of FVD can be effectively addressed through percutaneous endovenous glue ablation, providing a technically safe and feasible alternative without open surgery.Our patient experienced symptom resolution, no post-procedural complications, and maintained stable occlusion at a 1-year follow-up. This outcome highlights the potential of endovenous glue ablation as an innovative approach in managing deep vein reflux, particularly in cases involving FVD. To broaden its application in clinical practice, further research is crucial to establish appropriate patient selection criteria and refine treatment protocols.
6.Cyanoacrylate Glue Ablation for Symptomatic Reflux in a Duplicated Femoral Vein:A Case Report
Kilsoo YIE ; Eun-Hee JEONG ; A-Rom SHIN ; Bo-Mi KIM ; Eun-Jung HWANG
Vascular Specialist International 2024;40(4):43-
The literature on minimally invasive techniques specifically targeting reflux in symptomatic femoral vein duplication (FVD) is limited. We present a rare case of symptomatic reflux in FVD, successfully treated with cyanoacrylate glue ablation under ultrasonographic guidance. Our findings suggest that the unique anatomy of FVD can be effectively addressed through percutaneous endovenous glue ablation, providing a technically safe and feasible alternative without open surgery.Our patient experienced symptom resolution, no post-procedural complications, and maintained stable occlusion at a 1-year follow-up. This outcome highlights the potential of endovenous glue ablation as an innovative approach in managing deep vein reflux, particularly in cases involving FVD. To broaden its application in clinical practice, further research is crucial to establish appropriate patient selection criteria and refine treatment protocols.
7.Does Radiofrequency Ablation Induce Neoplastic Changes in Benign Thyroid Nodules: A Preliminary Study
Su Min HA ; Jun Young SHIN ; Jung Hwan BAEK ; Dong Eun SONG ; Sae Rom CHUNG ; Young Jun CHOI ; Jeong Hyun LEE
Endocrinology and Metabolism 2019;34(2):169-178
BACKGROUND: To evaluate the clinical feasibility of radiofrequency ablation (RFA) of benign thyroid nodules along with cytomorphological alteration, and any malignant transformation through biopsy. METHODS: The data were retrospectively collected between April 2008 and June 2013 and core needle biopsy (CNB) was performed on 16 benign thyroid nodules previously treated using RFA. The parameters of the patients were compared, between the time of enrollment and the last follow-up examination, using linear mixed model statistical analysis. RESULTS: No atypical cells or neoplastic transformation were detected in the undertreated peripheral portion of treated benign nodules on the CNB specimen. RFA altered neither the thyroid capsule nor the thyroid tissue adjacent to the treated area. On histopathological examinations, we observed 81.2% acellular hyalinization, which was the most common finding. After a mean follow-up period of over 5 years, the mean volume of thyroid nodule had decreased to 6.4±4.2 mL, with a reduction rate of 81.3%±5.8% (P<0.0001). CONCLUSION: RFA is a technically feasible treatment method for benign thyroid nodules, with no carcinogenic effect or tissue damage of the normal thyroid tissue adjacent to the RFA-treated zone.
Biopsy
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Biopsy, Large-Core Needle
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Catheter Ablation
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Follow-Up Studies
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Humans
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Hyalin
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Methods
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Pathology
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Retrospective Studies
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Thyroid Gland
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Thyroid Nodule
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Ultrasonography
8.The Association between Types of Smoking and Periodontal Disease according to the Survey Year Using the Fourth and Fifth Korea National Health and Nutrition Examination Surveys.
Myoung Hee KIM ; Mi Sook YOON ; Youn Hee LIM ; Sae Rom LEE ; So Yeon KIM ; Seon Ju PARK ; Sun Jung SHIN
Journal of Dental Hygiene Science 2017;17(6):487-494
There is little evidence on the effects of environmental tobacco smoke (ETS) on prevalence of periodontal disease. The aims of this study were to explore the trends of prevalence of periodontal disease and types of exposure to smoke, including ETS according to the survey year, identify factors affecting periodontal disease, and compare the effect size of periodontal disease between active smokers and secondhand smokers. Data on 11,643 individuals were obtained from the fourth and fifth Korean National Health and Nutritional Examination Surveys. Information on exposure to ETS at home and work was self-reported. Severity of periodontal disease was evaluated using the community periodontal index. A multivariate logistic regression analysis was performed to model periodontal disease using types of smoking and the survey year. Overall, the prevalence of periodontal disease was 26.0% (n=3,029) and about 9% of the study population were secondhand smokers. The prevalence of periodontal disease among smokers was significantly increased according to smoking types by year. Active smokers showed a statistically significant adjusted odds ratio (aOR) for having periodontal disease except in the year 2007, whereas secondhand smokers had significant associations only in 2010 (aOR, 1.68; 95% confidence interval, 1.05 to 2.70) compared to non-smokers. For secondhand smokers, the statistical relationship of predicting periodontal disease was weaker than that of active smokers. However, ETS should separately be considered as an important risk factor for periodontal disease. This study suggested the need for further investigation of the impact of ETS on prevalence of periodontal disease using in-depth research designs and objective measurements for assessing periodontal disease and ETS.
Health Surveys
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Korea*
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Logistic Models
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Nutrition Surveys
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Odds Ratio
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Periodontal Diseases*
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Periodontal Index
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Prevalence
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Research Design
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Risk Factors
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Smoke*
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Smoking*
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Tobacco
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Tobacco Smoke Pollution
9.Standardization and Validation of the Korean Version of Demoralization Scale-II (DS-II-Kr) in Cancer Patients
Min JHON ; Seon-Young KIM ; Jae-Min KIM ; Sung-Wan KIM ; Il-Seon SHIN ; Ju-Yeon LEE ; Jung-Jae LEE ; Sae-Rom GWAK ; David W. KISSANE
Journal of Korean Neuropsychiatric Association 2022;61(2):90-97
Objectives:
Demoralization, which results from the inability to cope, is characterized by hopelessness, helplessness, and loss of the meaning and purpose of life. Although demoralization is prevalent in patients with chronic illness, including cancer, a Korean version of the scale has not been developed and validated. Thus, we translated into Korean and validated a version of the Demoralization Scale-II (DS-II-Kr) for cancer patients.
Methods:
This cross-sectional study recruited cancer patients and survivors who visited a mental health clinic in a cancer hospital. Internal consistency, test-retest reliability, and concurrent validity of DS-II-Kr were assessed. Additionally, the construct validity of two sub-factors was evaluated using confirmatory factor analysis. The optimal DS-II-Kr cut-off point was determined by logistic regression analysis based on the distress cut-off in the Hospital Anxiety-Depression Scale (HADS).
Results:
This study included 105 participants. The mean and standard deviation for total DS-IIKr scores were 11.9 and 7.6, respectively. The scale demonstrated good internal consistency and test-retest reliability. Goodness-of-fit analysis was moderate for the Meaning and Purpose subscale, and a good fit was found for the Distress and Coping Ability subscale. The DS-II-Kr cut-off value based on HADS was 10 (≤10 vs. >10).
Conclusion
The DS-II-Kr is a useful tool for assessing demoralization in clinical and research settings. However, further studies are needed to confirm the optimal DS-II-Kr cut-off score. External validation in other populations is also needed.
10.Diagnostic Performance of the Modified Korean Thyroid Imaging Reporting and Data System for Thyroid Malignancy: A Multicenter Validation Study
Sae Rom CHUNG ; Hye Shin AHN ; Young Jun CHOI ; Ji Ye LEE ; Roh-Eul YOO ; Yoo Jin LEE ; Jee Young KIM ; Jin Yong SUNG ; Ji-hoon KIM ; Jung Hwan BAEK
Korean Journal of Radiology 2021;22(9):1579-1586
Objective:
To evaluate the diagnostic performance of the modified Korean Thyroid Imaging Reporting and Data System (K-TIRADS), and compare it with the 2016 version of K-TIRADS using the Thyroid Imaging Network of Korea.
Materials and Methods:
Between June and September 2015, 5708 thyroid nodules (≥ 1.0 cm) from 5081 consecutive patients who had undergone thyroid ultrasonography at 26 institutions were retrospectively evaluated. We used a biopsy size threshold of 2 cm for K-TIRADS 3 and 1 cm for K-TIRADS 4 (modified K-TIRADS 1) or 1.5 cm for K-TIRADS 4 (modified K-TIRADS 3). The modified K-TIRADS 2 subcategorized the K-TIRADS 4 into 4A and 4B, and the cutoff sizes for the biopsies were defined as 1 cm for K-TIRADS 4B and 1.5 cm for K-TIRADS 4A. The diagnostic performance and the rate of unnecessary biopsies of the modified K-TIRADS for detecting malignancy were compared with those of the 2016 K-TIRAD, which were stratified by nodule size (with a threshold of 2 cm).
Results:
A total of 1111 malignant nodules and 4597 benign nodules were included. The sensitivity, specificity, and unnecessary biopsy rate of the benign nodules were 94.9%, 24.4%, and 60.9% for the 2016 K-TIRADS; 91.0%, 39.7%, and 48.6% for the modified K-TIRADS 1; 84.9%, 45.9%, and 43.5% for the modified K-TIRADS 2; and 76.1%, 50.2%, and 40.1% for the modified K-TIRADS 3. For small nodules (1–2 cm), the diagnostic sensitivity of the modified K-TIRADS decreased by 5.2–25.6% and the rate of unnecessary biopsies reduced by 19.2–32.8% compared with those of the 2016 K-TIRADS (p < 0.001). For large nodules (> 2 cm), the modified K-TIRADSs maintained a very high sensitivity for detecting malignancy (98%).
Conclusion
The modified K-TIRADSs significantly reduced the rate of unnecessary biopsies for small (1–2 cm) nodules while maintaining a very high sensitivity for malignancy for large (> 2 cm) nodules.