The strong association of left-side heart anomalies with Kabuki syndrome

윤자경,안경진,권보상,김기범,배은정,노정일,고정민 대한소아청소년과학회 2015 Clinical and Experimental Pediatrics (CEP) Vol.58 No.7

Purpose: Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. Methods: A retrospective analysis was conducted for a total of 13 patients with Kabuki syndrome. Results: The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All patients showed the characteristic facial dysmorphisms and congenital anomalies in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. Noncardiac anomalies were found in 84% of patients, and congenital heart diseases were found in 9 patients (69%). All 9 patients exhibited left-side heart anomalies, including hypoplastic left heart syndrome in 3, coarctation of the aorta in 4, aortic valve stenosis in 1, and mitral valve stenosis in 1. None had right-side heart disease or isolated septal defects. Genetic testing in 10 patients revealed 9 novel MLL2 mutations. All 11 patients who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of death was hypoplastic left heart syndrome. Conclusion: Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling.

Diagnostic performance of the 2022 KLCA-NCC criteria for hepatocellular carcinoma on magnetic resonance imaging with extracellular contrast and hepatobiliary agents: comparison with the 2018 KLCA-NCC criteria

윤자경,이선영,황정아,이지은,김승섭,김명진 대한간암학회 2023 대한간암학회지 Vol.23 No.1

Background/Aim: This study aimed to determine the diagnostic performance of 2022 Korean Liver Cancer Association-National Cancer Center (KLCA-NCC) imaging criteria compared with the 2018 KLCA-NCC for hepatocellular carcinoma (HCC) in high-risk patients using magnetic resonance imaging (MRI). Methods: This retrospective study included 415 treatment-naïve patients (152 patients who underwent extracellular contrast agent [ECA]-MRI and 263 who underwent hepatobiliary agent [HBA]-MRI; 535 lesions, including 412 HCCs) with a high risk of HCC who underwent contrast-enhanced MRI. Two readers evaluated all lesions according to the 2018 and 2022 KLCA-NCC imaging diagnostic criteria, and the per-lesion diagnostic performances were compared. Results: In “definite” HCC category of both 2018 and 2022 KLCA-NCC, HBA-MRI showed a significantly higher sensitivity for the diagnosis of HCC than ECA-MRI (77.0% vs. 64.3%, P=0.006) without a significant difference in specificity (94.7% vs. 95.7%, P=0.801). On ECA-MRI, “definite” or “probable” HCC categories of the 2022 KLCA-NCC had significantly higher sensitivity than those of the 2018 KLCA-NCC (85.3% vs. 78.3%, P =0.002) with identical specificity (93.6%). On HBA-MRI, the sensitivity and specificity of “definite” or “probable” HCC categories of both 2018 and 2022 KLCA-NCC were not significantly different (83.3% vs. 83.6%, P>0.999 and 92.1% vs. 90.8%, P>0.999, respectively). Conclusions: In “definite” HCC category of both 2018 and 2022 KLCA-NCC, HBA-MRI provides better sensitivity than ECA-MRI without compromising specificity. On ECA-MRI, “definite” or “probable” HCC categories of the 2022 KLCA-NCC may improve sensitivity in the diagnosis of HCC compared with the 2018 KLCA-NCC.

Reference Values for Skeletal Muscle Mass at the Third Lumbar Vertebral Level Measured by Computed Tomography in a Healthy Korean Population

윤자경,이선영,김경원,이지은,황정아,박태용,이정진 대한내분비학회 2021 Endocrinology and metabolism Vol.36 No.3

Background: Sarcopenia is defined as the loss of skeletal muscle mass and is associated with negative clinical outcomes. This study aimed to establish sex-specific cutoff values for the skeletal muscle area (SMA) and skeletal muscle index (SMI) at the third lumbar vertebral (L3) level using computed tomography (CT) imaging to identify sarcopenia in healthy Korean liver donors. Methods: This retrospective study included 659 healthy liver donors (408 men and 251 women) aged 20 to 60 years who had undergone abdominal CT examinations between January 2017 and December 2018. Assessment of body composition was performed with an automated segmentation technique using a deep-learning system. Sex-specific SMA and SMI distributions were assessed, and cutoff values for determining sarcopenia were defined as values at either two standard deviations (SDs) below the mean reference value or below the fifth percentile. Results: Using the SD definition, cutoff values for SMA and SMI were 117.04 cm2 and 39.33 cm2/m2, respectively, in men and 71.39 cm2 and 27.77 cm2/m2, respectively, in women. Using the fifth percentile definition, cutoff values for SMA and SMI were 126.88 cm2 and 40.96 cm2/m2, respectively, in men and 78.85 cm2 and 30.60 cm2/m2, respectively, in women. Conclusion: Our data provide sex-specific cutoff values for the SMA and SMI at the L3 level measured by CT imaging in a healthy Korean population, which may be applicable for identifying sarcopenia in this population.

Ruptured Tricuspid Valve Papillary Muscle in a Neonate with Intractable Persistent Fetal Circulation

윤자경,김혜림,권혜원,권보상,김기범,배은정,노정일,김웅한 대한심장학회 2015 Korean Circulation Journal Vol.45 No.4

Unguarded tricuspid regurgitation (TR) due to a flail tricuspid leaflet is a rare condition of newborn cyanosis. A high perinatal mortality has been associated with this fatal condition. But, there are feasible surgical repairs to improve survival. We report the case of a male fullterm neonate with intractable hypoxia. He had profound tricuspid insufficiency and leaflet prolapse caused by a ruptured papillary muscle supporting the anterior leaflet of the tricuspid valve. He presented with severe cyanosis and respiratory distress immediately after birth. Despite medical management, the pulmonary vascular resistance was not decreased and a low cardiac output persisted. Initial stabilization was accomplished with nitric oxide and extracorporeal membrane oxygenation. The tricuspid valve repair surgery was successfully performed subsequently. TR resulting from papillary muscle rupture is a potentially lethal condition. Timely diagnosis and proper surgical treatment can be lifesaving.

Intraindividual Comparison of MRIs with Extracellular and Hepatobiliary Contrast Agents for the Noninvasive Diagnosis of Hepatocellular Carcinoma using the Korean Liver Cancer Association-National Cancer Center 2022 Criteria

윤자경,한대훈,이선영,최진영,최기홍,김도영,김명진 대한암학회 2023 Cancer Research and Treatment Vol.55 No.3

Purpose The aim of the present study was to evaluate the per-lesion sensitivity and specificity of the Korean Liver Cancer Association–National Cancer Center (KLCA-NCC) 2022 criteria for the noninvasive diagnosis of hepatocellular carcinoma (HCC), with intraindividual comparison of the diagnostic performance of magnetic resonance imaging with extracellular agents (ECA-MRI) and hepatobiliary agents (HBA-MRI). Materials and Methods Patients at high risk for HCC who were referred to a tertiary academic institution for hepatic lesions with size ≥ 10 mm between July 2019 and June 2022 were enrolled. A total of 91 patients (mean age, 58.1 years; 76 men and 15 women) with 118 lesions who underwent both ECA-MRI and HBA-MRI were eligible for final analysis. The per-lesion sensitivities and specificities of the KLCA-NCC 2022 criteria using ECA-MRI and HBA-MRI were compared using McNemar’s test. Results The 118 lesions were 93 HCCs, 4 non-HCC malignancies, and 21 benign lesions. On HBA-MRI, the “definite” HCC category showed significantly higher sensitivity than ECA-MRI (78.5% vs. 58.1%, p < 0.001), with identical specificity (92.0% vs. 92.0%, p > 0.999). For “probable” or “definite” HCC categories, there were no differences in the sensitivity (84.9% vs. 84.9%, p > 0.999) and specificity (84.0% vs. 84.0%, p > 0.999) between ECA-MRI and HBA-MRI. Conclusion The “definite” HCC category of the KLCA-NCC 2022 criteria showed higher sensitivity in diagnosing HCC on HBA-MRI compared with ECA-MRI, without compromising specificity. There were no significant differences in the sensitivity and specificity of “probable” or “definite” HCC categories according to ECA-MRI and HBA-MRI.

Mesocaval Shunt Creation for Jejunal Variceal Bleeding with Chronic Portal Vein Thrombosis

윤자경,김만득,이도연,한석주 연세대학교의과대학 2018 Yonsei medical journal Vol.59 No.1

The creation of transjugular intrahepatic portosystemic shunt (TIPS) is a widely performed technique to relieve portal hypertension,and to manage recurrent variceal bleeding and refractory ascites in patients where medical and/or endoscopic treatments have failed. However, portosystemic shunt creation can be challenging in the presence of chronic portal vein occlusion. In this case report, we describe a minimally invasive endovascular mesocaval shunt creation with transsplenic approach for the managementof recurrent variceal bleeding in a portal hypertension patient with intra- and extrahepatic portal vein occlusion.

Minimal change disease with mesangial IgA staining following the AstraZeneca COVID-19 vaccination

윤자경,이하린 대한내과학회 2021 대한내과학회 추계학술대회 Vol.2021 No.1

스마트 자동차 키 추적기

윤자경 ( Jakyung Yoon ),김푸름 ( Pu Reum Kim ),조규환 ( Kyu Hwan Cho ),김도현 ( Do Huan Kim ) 한국정보처리학회 2017 한국정보처리학회 학술대회논문집 Vol.24 No.2

자동차 키의 발전이 커지면서 만드는데 있어 드는 비용이 점차 증가하고 있다. 그럼으로써 자동차 키를 분실 시 따른 개인적인 비용 손실이 증가하고 있다. 자동차 키의 분실을 방지하고자 자동차 키에 BLE 4.0의 동글을 부착하며 BLE 4.0의 RSSI을 활용한 위치 기반 서비스 시스템을 이요하고 자동차 키의 실시간 위치 확인 가능하도록 하며 우리의 눈을 통해 더 정확히 위치를 파악할 수 있도록 소리/진동 알림과 LED를 동글에 부착하여 시스템을 구축하였다.

복합 선천성 심장질환자의 신체활동과 심박수변동부전의 연관성

김현정,윤자경,김철호,김성호,Barry A Franklin,제세영 대한스포츠의학회 2022 대한스포츠의학회지 Vol.40 No.2

Purpose: Although chronotropic incompetence (CI) is common in patients with complex congenital heart disease (CHD) and is associated with adverse cardiovascular outcomes, few data are available regarding modifiable predictors of CI in this escalating patient population. We tested the hypothesis that higher levels of physical activity (PA) are associated with a lower prevalence of CI in patients with complex CHD and evaluated the receiver operating characteristic curve to identify the PA level that best predicted CI. Methods: We evaluated 111 adolescents with complex CHD. CI was defined as the failure to achieve 80% of the chronotropic response index during peak cardiopulmonary exercise test. Self-reported habitual activity was obtained using a global PA questionnaire. Results: CI was identified in 45 of the 111 cases (40.5%). After adjusting for potential confounding variables, the high PA group demonstrated a lower odds ratio for having CI (odds ratios, 0.25; 95% confidence interval, 0.06‒0.99) compared with the low PA group. The most accurate cut-point for PA to predict the prevalence of CI was 15 metabolic equivalents (METs)-hours/week (areas under the curve, 0.71; 95% confidence interval, 0.61‒0.81; sensitivity, 71%; specificity, 69%). Conclusion: Our findings demonstrate that higher levels of PA are associated with a lower prevalence of CI, independent of potential confounders, and that 15 METs-hours/week of PA provides a cut-point for accurately predicting the presence of CI in adolescents with complex CHD.

The outcome of percutaneous stent implantation in congenital heart disease: experience of a single institute

김문선,윤자경,김성호,방지석,장소익,이상윤,최은영,박수진,권혜원 대한소아청소년과학회 2018 Clinical and Experimental Pediatrics (CEP) Vol.61 No.6

Purpose: The efficacy of percutaneous stent implantation for congenital heart disease (CHD) in Korea, where stent availability is limited, has not been determined. This study evaluated the acute and midterm results of stent implantation in different CHD subgroups. Methods: Stents were implanted in 75 patients with 81 lesions: (1) pulmonary artery stenosis (PAS) group, 56 lesions in 51 patients; (2) coarctation of the aorta (CoA) group, 5 lesions in 5 patients; (3) Fontan group, 13 lesions in 12 patients; (4) ductal stent group, 3 lesions in 3 patients; and (5) other CHD group, 4 lesions in 4 patients. Mean follow-up duration was 2.1 years (0.1–4 years). Medical records were reviewed retrospectively. Results: The minimum lumen diameter (MLD) in PAS and CoA increased from 5.0 ± 1.9 mm and 8.4 ± 1.6 mm to 10.1 ± 3.6 mm and 12.3 ± 2.5 mm, respectively (P<0.01). In the PAS group, pressure gradient decreased from 25.7 ± 15.6 mmHg to 10.4 ± 10.1 mmHg, and right ventricular to aortic pressure ratio from 0.56 ± 0.21 to 0.46 ± 0.19. In the CoA group, the pressure gradient decreased from 50 ± 33 mmHg to 17 ± 8 mmHg. In the ductal stent group, the MLD of the ductus increased from 2.3 mm to 4.3 mm and arterial oxygen saturation from 40%–70% to 90%. No deaths were associated with stent implantation. Stent migration occurred in 3 patients, but repositioning was successful in all. Stent redilation was performed successfully in 26 cases after 29 ± 12 months. Conclusion: Percutaneous stent implantation was safe and effective, with acceptable short and mid-term outcomes in Korean CHD patients.