1.Treatment Outcomes in Children With Catecholaminergic Polymorphic Ventricular Tachycardia: A Single Institutional Experience
Joowon LEE ; Bo Sang KWON ; Mi Kyoung SONG ; Sang-Yun LEE ; Jung Min KO ; Gi Beom KIM ; Eun Jung BAE
Korean Circulation Journal 2024;54(12):853-864
Background and Objectives:
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a life-threatening inherited arrhythmogenic disorder. Recently, RYR2, the major CPVTcausative gene, was associated with neuropsychiatric manifestations. We aimed to analyze the clinical presentations, neuropsychiatric manifestations, and treatment outcomes of children with CPVT.
Methods:
We retrospectively reviewed 23 patients diagnosed with CPVT before 19 years of age. Genetic analysis, history of neuropsychiatric manifestations, changes in ventricular arrhythmia burden before and after treatment, occurrence of cardiac events, and overall survival (OS) were investigated.
Results:
RYR2 variants were identified in 17 patients, and 14 were classified as pathogenic or likely pathogenic. Neuropsychiatric manifestations, including intellectual disability and attention deficit hyperactivity disorder, were identified in 10 patients (43.5%). The 5-year cardiac event-free survival rate was 31.2%, and the 10-year OS rate was 73.1%. Patients diagnosed since 2009 had a higher cardiac event-free survival rate than those diagnosed before 2009 (p=0.0028).Combined beta-blocker and flecainide therapy demonstrated a lower risk of cardiac events than beta-blocker monotherapy (hazard ratio [HR], 0.08; 95% confidence interval [CI], 0.02–0.38;p=0.002). Left cardiac sympathetic denervation (LCSD) reduced the ventricular arrhythmia burden in Holter monitoring. Occurrence of near-fatal cardiac events after diagnosis was an independent predictor of death (HR, 33.40; 95% CI, 6.23–179.95; p<0.001).
Conclusions
Neuropsychiatric manifestations are common in children with CPVT. Flecainide and/or LCSD, when added to beta-blocker therapy, reduce the ventricular arrhythmia burden and cardiac events, thereby improving treatment outcomes in recent years.
2.Treatment Outcomes in Children With Catecholaminergic Polymorphic Ventricular Tachycardia: A Single Institutional Experience
Joowon LEE ; Bo Sang KWON ; Mi Kyoung SONG ; Sang-Yun LEE ; Jung Min KO ; Gi Beom KIM ; Eun Jung BAE
Korean Circulation Journal 2024;54(12):853-864
Background and Objectives:
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a life-threatening inherited arrhythmogenic disorder. Recently, RYR2, the major CPVTcausative gene, was associated with neuropsychiatric manifestations. We aimed to analyze the clinical presentations, neuropsychiatric manifestations, and treatment outcomes of children with CPVT.
Methods:
We retrospectively reviewed 23 patients diagnosed with CPVT before 19 years of age. Genetic analysis, history of neuropsychiatric manifestations, changes in ventricular arrhythmia burden before and after treatment, occurrence of cardiac events, and overall survival (OS) were investigated.
Results:
RYR2 variants were identified in 17 patients, and 14 were classified as pathogenic or likely pathogenic. Neuropsychiatric manifestations, including intellectual disability and attention deficit hyperactivity disorder, were identified in 10 patients (43.5%). The 5-year cardiac event-free survival rate was 31.2%, and the 10-year OS rate was 73.1%. Patients diagnosed since 2009 had a higher cardiac event-free survival rate than those diagnosed before 2009 (p=0.0028).Combined beta-blocker and flecainide therapy demonstrated a lower risk of cardiac events than beta-blocker monotherapy (hazard ratio [HR], 0.08; 95% confidence interval [CI], 0.02–0.38;p=0.002). Left cardiac sympathetic denervation (LCSD) reduced the ventricular arrhythmia burden in Holter monitoring. Occurrence of near-fatal cardiac events after diagnosis was an independent predictor of death (HR, 33.40; 95% CI, 6.23–179.95; p<0.001).
Conclusions
Neuropsychiatric manifestations are common in children with CPVT. Flecainide and/or LCSD, when added to beta-blocker therapy, reduce the ventricular arrhythmia burden and cardiac events, thereby improving treatment outcomes in recent years.
3.Treatment Outcomes in Children With Catecholaminergic Polymorphic Ventricular Tachycardia: A Single Institutional Experience
Joowon LEE ; Bo Sang KWON ; Mi Kyoung SONG ; Sang-Yun LEE ; Jung Min KO ; Gi Beom KIM ; Eun Jung BAE
Korean Circulation Journal 2024;54(12):853-864
Background and Objectives:
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a life-threatening inherited arrhythmogenic disorder. Recently, RYR2, the major CPVTcausative gene, was associated with neuropsychiatric manifestations. We aimed to analyze the clinical presentations, neuropsychiatric manifestations, and treatment outcomes of children with CPVT.
Methods:
We retrospectively reviewed 23 patients diagnosed with CPVT before 19 years of age. Genetic analysis, history of neuropsychiatric manifestations, changes in ventricular arrhythmia burden before and after treatment, occurrence of cardiac events, and overall survival (OS) were investigated.
Results:
RYR2 variants were identified in 17 patients, and 14 were classified as pathogenic or likely pathogenic. Neuropsychiatric manifestations, including intellectual disability and attention deficit hyperactivity disorder, were identified in 10 patients (43.5%). The 5-year cardiac event-free survival rate was 31.2%, and the 10-year OS rate was 73.1%. Patients diagnosed since 2009 had a higher cardiac event-free survival rate than those diagnosed before 2009 (p=0.0028).Combined beta-blocker and flecainide therapy demonstrated a lower risk of cardiac events than beta-blocker monotherapy (hazard ratio [HR], 0.08; 95% confidence interval [CI], 0.02–0.38;p=0.002). Left cardiac sympathetic denervation (LCSD) reduced the ventricular arrhythmia burden in Holter monitoring. Occurrence of near-fatal cardiac events after diagnosis was an independent predictor of death (HR, 33.40; 95% CI, 6.23–179.95; p<0.001).
Conclusions
Neuropsychiatric manifestations are common in children with CPVT. Flecainide and/or LCSD, when added to beta-blocker therapy, reduce the ventricular arrhythmia burden and cardiac events, thereby improving treatment outcomes in recent years.
4.Treatment Outcomes in Children With Catecholaminergic Polymorphic Ventricular Tachycardia: A Single Institutional Experience
Joowon LEE ; Bo Sang KWON ; Mi Kyoung SONG ; Sang-Yun LEE ; Jung Min KO ; Gi Beom KIM ; Eun Jung BAE
Korean Circulation Journal 2024;54(12):853-864
Background and Objectives:
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a life-threatening inherited arrhythmogenic disorder. Recently, RYR2, the major CPVTcausative gene, was associated with neuropsychiatric manifestations. We aimed to analyze the clinical presentations, neuropsychiatric manifestations, and treatment outcomes of children with CPVT.
Methods:
We retrospectively reviewed 23 patients diagnosed with CPVT before 19 years of age. Genetic analysis, history of neuropsychiatric manifestations, changes in ventricular arrhythmia burden before and after treatment, occurrence of cardiac events, and overall survival (OS) were investigated.
Results:
RYR2 variants were identified in 17 patients, and 14 were classified as pathogenic or likely pathogenic. Neuropsychiatric manifestations, including intellectual disability and attention deficit hyperactivity disorder, were identified in 10 patients (43.5%). The 5-year cardiac event-free survival rate was 31.2%, and the 10-year OS rate was 73.1%. Patients diagnosed since 2009 had a higher cardiac event-free survival rate than those diagnosed before 2009 (p=0.0028).Combined beta-blocker and flecainide therapy demonstrated a lower risk of cardiac events than beta-blocker monotherapy (hazard ratio [HR], 0.08; 95% confidence interval [CI], 0.02–0.38;p=0.002). Left cardiac sympathetic denervation (LCSD) reduced the ventricular arrhythmia burden in Holter monitoring. Occurrence of near-fatal cardiac events after diagnosis was an independent predictor of death (HR, 33.40; 95% CI, 6.23–179.95; p<0.001).
Conclusions
Neuropsychiatric manifestations are common in children with CPVT. Flecainide and/or LCSD, when added to beta-blocker therapy, reduce the ventricular arrhythmia burden and cardiac events, thereby improving treatment outcomes in recent years.
5.A 10-Gene Signature to Predict the Prognosis of Early-Stage Triple-Negative Breast Cancer
Chang Min KIM ; Kyong Hwa PARK ; Yun Suk YU ; Ju Won KIM ; Jin Young PARK ; Kyunghee PARK ; Jong-Han YU ; Jeong Eon LEE ; Sung Hoon SIM ; Bo Kyoung SEO ; Jin Kyeoung KIM ; Eun Sook LEE ; Yeon Hee PARK ; Sun-Young KONG
Cancer Research and Treatment 2024;56(4):1113-1125
Purpose:
Triple-negative breast cancer (TNBC) is a particularly challenging subtype of breast cancer, with a poorer prognosis compared to other subtypes. Unfortunately, unlike luminal-type cancers, there is no validated biomarker to predict the prognosis of patients with early-stage TNBC. Accurate biomarkers are needed to establish effective therapeutic strategies.
Materials and Methods:
In this study, we analyzed gene expression profiles of tumor samples from 184 TNBC patients (training cohort, n=76; validation cohort, n=108) using RNA sequencing.
Results:
By combining weighted gene expression, we identified a 10-gene signature (DGKH, GADD45B, KLF7, LYST, NR6A1, PYCARD, ROBO1, SLC22A20P, SLC24A3, and SLC45A4) that stratified patients by risk score with high sensitivity (92.31%), specificity (92.06%), and accuracy (92.11%) for invasive disease-free survival. The 10-gene signature was validated in a separate institution cohort and supported by meta-analysis for biological relevance to well-known driving pathways in TNBC. Furthermore, the 10-gene signature was the only independent factor for invasive disease-free survival in multivariate analysis when compared to other potential biomarkers of TNBC molecular subtypes and T-cell receptor β diversity. 10-gene signature also further categorized patients classified as molecular subtypes according to risk scores.
Conclusion
Our novel findings may help address the prognostic challenges in TNBC and the 10-gene signature could serve as a novel biomarker for risk-based patient care.
6.Korean Thyroid Association Guidelines on the Management of Differentiated Thyroid Cancers; Part II. Follow-up Surveillance after Initial Treatment 2024
Mijin KIM ; Ji-In BANG ; Ho-Cheol KANG ; Sun Wook KIM ; Dong Gyu NA ; Young Joo PARK ; Youngduk SEO ; Young Shin SONG ; So Won OH ; Sang-Woo LEE ; Eun Kyung LEE ; Ji Ye LEE ; Dong-Jun LIM ; Ari CHONG ; Yun Jae CHUNG ; Chae Moon HONG ; Min Kyoung LEE ; Bo Hyun KIM ;
International Journal of Thyroidology 2024;17(1):115-146
Based on the clinical, histopathological, and perioperative data of a patient with differentiated thyroid cancer (DTC), risk stratification based on their initial recurrence risk is a crucial follow-up (FU) strategy during the first 1–2 years after initial therapy. However, restratifiying the recurrence risk on the basis of current clinical data that becomes available after considering the response to treatment (ongoing risk stratification, ORS) provides a more accurate prediction of the status at the final FU and a more tailored management approach. Since the 2015 American Thyroid Association Management Guidelines for Adult Patients with Thyroid Nodules and DTC, the latest guidelines that include the National Comprehensive Cancer Network clinical practice and European Association for Medical Oncology guidelines have been updated to reflect several recent evidence in ORS and thyroid-stimulating hormone (TSH) suppression of DTC. The current clinical practice guideline was developed by extracting FU surveillance after the initial treatment section from the previous version of guidelines and updating it to reflect recent evidence. The current revised guideline includes recommendations for recent ORS, TSH target level based on risk stratification, FU tools for detection of recurrence and assessment of disease status, and long-term FU strategy for consideration of the disease status. These evidence-based recommendations are expected to avoid overtreatment and intensive FU of the majority of patients who will have a very good prognosis after the initial treatment of DTC patients, thereby ensuring that patients receive the most appropriate and effective treatment and FU options.
7.Korean Thyroid Association Guidelines on the Management of Differentiated Thyroid Cancers; Overview and Summary 2024
Young Joo PARK ; Eun Kyung LEE ; Young Shin SONG ; Bon Seok KOO ; Hyungju KWON ; Keunyoung KIM ; Mijin KIM ; Bo Hyun KIM ; Won Gu KIM ; Won Bae KIM ; Won Woong KIM ; Jung-Han KIM ; Hee Kyung KIM ; Hee Young NA ; Shin Je MOON ; Jung-Eun MOON ; Sohyun PARK ; Jun-Ook PARK ; Ji-In BANG ; Kyorim BACK ; Youngduk SEO ; Dong Yeob SHIN ; Su-Jin SHIN ; Hwa Young AHN ; So Won OH ; Seung Hoon WOO ; Ho-Ryun WON ; Chang Hwan RYU ; Jee Hee YOON ; Ka Hee YI ; Min Kyoung LEE ; Sang-Woo LEE ; Seung Eun LEE ; Sihoon LEE ; Young Ah LEE ; Joon-Hyop LEE ; Ji Ye LEE ; Jieun LEE ; Cho Rok LEE ; Dong-Jun LIM ; Jae-Yol LIM ; Yun Kyung JEON ; Kyong Yeun JUNG ; Ari CHONG ; Yun Jae CHUNG ; Chan Kwon JUNG ; Kwanhoon JO ; Yoon Young CHO ; A Ram HONG ; Chae Moon HONG ; Ho-Cheol KANG ; Sun Wook KIM ; Woong Youn CHUNG ; Do Joon PARK ; Dong Gyu NA ;
International Journal of Thyroidology 2024;17(1):1-20
Differentiated thyroid cancer demonstrates a wide range of clinical presentations, from very indolent cases to those with an aggressive prognosis. Therefore, diagnosing and treating each cancer appropriately based on its risk status is important. The Korean Thyroid Association (KTA) has provided and amended the clinical guidelines for thyroid cancer management since 2007. The main changes in this revised 2024 guideline include 1) individualization of surgical extent according to pathological tests and clinical findings, 2) application of active surveillance in low-risk papillary thyroid microcarcinoma, 3) indications for minimally invasive surgery, 4) adoption of World Health Organization pathological diagnostic criteria and definition of terminology in Korean, 5) update on literature evidence of recurrence risk for initial risk stratification, 6) addition of the role of molecular testing, 7) addition of definition of initial risk stratification and targeting thyroid stimulating hormone (TSH) concentrations according to ongoing risk stratification (ORS), 8) addition of treatment of perioperative hypoparathyroidism, 9) update on systemic chemotherapy, and 10) addition of treatment for pediatric patients with thyroid cancer.
8.Robotic Single-Site Plus One-Port Myomectomy versus Robotic Single-Site Plus Two-Port Myomectomy: A Propensity Score Matching Analysis
Su Hyeon CHOI ; Seyeon WON ; Nara LEE ; So Hyun SHIM ; Mi Kyoung KIM ; Mi-La KIM ; Yong Wook JUNG ; Bo Seong YUN ; Hye Sun JUN ; Seok Ju SEONG
Yonsei Medical Journal 2024;65(7):406-412
Purpose:
Robotic single-site plus one-port myomectomy (RSOM) was designed to reduce the number of incision sites for greater cosmetic satisfaction of patients while retaining the benefits of conventional robotic multi-site myomectomy (CRM). Robotic single-site plus two-port myomectomy (RSTM) eliminated one port relative to conventional CRM, and RSOM achieved the same advantage with respect to RSTM. This study aimed to compare RSOM with RSTM in terms of their respective methodologies and surgical outcomes.
Materials and Methods:
The medical records of 230 patients who had undergone RSOM and 146 patients who had undergone RSTM were reviewed. The groups’ surgical outcomes were compared using propensity score matching (PSM) analysis.
Results:
In the total data, RSOM had a shorter operative time (135.1±57.4 min vs. 149.9±46.2 min, p=0.009) and a shorter hospital stay (5.2±0.5 days vs. 5.4±0.7 days, p=0.033) relative to RSTM. The PSM analysis showed that there were no statistically significant intergroup differences in the patients’ baseline characteristics. Regarding the surgical outcomes, the RSOM group showed shorter operative time (129.2±49.3 min vs. 148.7±46.3 min, p=0.001) compared to the RSTM group.
Conclusion
Compared with RSTM, RSOM was associated with shorter operative time. Additionally, more detailed comparative and prospective studies are needed to evaluate RSOM relative to RSTM.
9.The Incidence and risk factors of delirium in elderly surgical patients
Eun Ju LEE ; Mi JANG ; Myung Hwa KIM ; Hye Jun YUN ; Eun Mi KIM ; Young In CHUNG ; Bo Kyung KIM ; Eun Su IM ; Kyoung Soon HONG
Journal of Korean Clinical Nursing Research 2022;28(2):137-145
Purpose:
This retrospective chart review study was conducted to examine the frequency of delirium and to identify the risk factors of delirium in elderly surgical patients.
Methods:
The subjects of this study were 394 patients aged 65 years or older who underwent surgery. The diagnosis of delirium was based on the nursing assessment records with scores from the day of surgery to the 4th day after surgery. The collected data were analyzed by binary logistic regression analysis.
Results:
The incidence of delirium was 4.3%, and delirium occurred most frequently on the first day of surgery and lasted for 2.16 days on average. Of delirium patients, 76.5% underwent gastrointestinal surgery, and the most common delirium pattern was disorientation. In terms of the characteristics of the subjects, the occurrence of delirium was statistically different by age (x 2=10.79, p=.005), systemic-specific disease (x 2 =9.63, p=.047), use of delirium-inducing drug(benzodiazepine) before surgery (x 2 =15.90, p<.001), walking ability before surgery (x 2 =7.65, p=.006), history of delirium (x 2 =35.92, p<.001), and emergency surgery (x 2 =16.40, p<.001). As risk factors of delirium, gastrointestinal surgery was found to increase the risk of delirium by 12.57 times (95% CI=2.45~64.46, p=.002), and the use of benzodiazepines before surgery was shown to increase delirium by 10.07 times (95% CI=2.21~45.87, p=.003).
Conclusion
It is necessary for nurses to actively evaluate delirium using screening tools for early detection and prevention of delirium in elderly surgical patients with delirium risk factors.
10.Identification of Single Nucleotide Polymorphisms as Biomarkers for Recurrent Pregnancy Loss in Korean Women
Hye In KIM ; Eun A CHOI ; Eun Chan PAIK ; Soohyeon PARK ; Yu Im HWANG ; Jae Hoon LEE ; Seok Kyo SEO ; SiHyun CHO ; Young Sik CHOI ; Byung Seok LEE ; Jimyeong PARK ; Sanghoo LEE ; Kyoung-Ryul LEE ; Bo Hyon YUN
Journal of Korean Medical Science 2022;37(46):e336-
Background:
Single nucleotide polymorphisms (SNPs) are reportedly associated with repeated abortion. Thus, genetic analysis based on race is the key to developing accurate diagnostic tests. This study analyzed the genetic polymorphisms of recurrent pregnancy loss (RPL) patients among Korean women compared to the controls.
Methods:
In 53 women of RPL group and 50 controls, the genetic analysis was performed.The genotype distribution and allele frequency were analyzed statistically for the difference between the two groups. The association between each SNP marker and RPL risk was analyzed.
Results:
The genotypes of LEPR, endothelial nitric oxide synthase (eNOS), KDR, miR-27a, miR-449b, and tumor necrosis factor-alpha (TNF-α) were analyzed using odds ratio (OR) with 95% confidence intervals (CIs). Only the AG genotype of miR-449b (A>G) polymorphism showed significant association with the risk of RPL when compared to the AA genotype (OR, 2.39). The combination of GG/AG+GG/CA+AA genotypes for eNOS/ miR-449b/TNF-α was associated with 7.36-fold higher risk of RPL (OR, 7.36). The GG/ AG+GG combination for eNOS/miR-449b showed 2.43-fold higher risk for RPL (OR, 2.43). The combination of AG+GG/CA+AA genotypes for miR-449b/TNF-α showed a significant association with the risk of RPL (OR, 7.60). From the haplotype-based analysis, the G-G-A haplotype of eNOS/miR-449b/TNF-α and the G-A haplotype of miR-449b/TNF-α were associated with increased risk of RPL (OR, 19.31; OR, 22.08, respectively).
Conclusion
There is a significant association between the risk of RPL and miR-449b/TNF-αcombination, and therefore, genetic analysis for specific combined genotypes can be an important screening method for RPL in Korean women.

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