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Identification of unbalanced complex chromosomal rearrangements in IVF-derived embryos during NGS analysis of preimplantation genetic testing: A case report

Yu EJ, Kim MJ, Park EA, Hong YS, Park SO, Park SH, Lee YB, Yoon TK, Kang IS

Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of...
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Clinical application of genome-wide single nucleotide polymorphism genotyping and karyomapping for preimplantation genetic testing of Charcot–Marie–Tooth disease

Kim MJ, Park SO, Hong YS, Park EA, Lee YB, Choi BO, Lee KA, Yu EJ, Kang IS

Purpose: Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to prevent couples with monogenic disorders from passing them on to their child. Charcot–Marie–Tooth Disease (CMT) is a...
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A Retrospective Population-Based Survival Study of Idiopathic Pulmonary Arterial Hypertension in Korea

Jang SY, Kim EK, Huh J, Song J, Kang IS, Park SW, Kim DK, Chang SA

Background: Few studies used nationwide data to assess the survival rates (SRs) and death risk for idiopathic pulmonary arterial hypertension (IPAH; ICD-10 I27.0) in Korea. Methods: IPAH data (N = 9,017;...
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The Waiting List Mortality of Pediatric Heart Transplantation Candidates in Korea before the Pediatric Ventricular Assist Device Era

Jeung MS, Kim MJ, Huh J, Kang IS, Kim GB, Yu JJ, Song J

Background: Despite advancements in heart transplantation for pediatric patients in Korea, the waiting list mortality has not been reported. Therefore, we investigated the waiting list mortality rate and factors associated...
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Impact of Atrial Fibrillation on Survival in Adults with Congenital Heart Disease: a Retrospective Population-based Study

Jang SY, Huh J, Kim EK, Chang SA, Song J, Kang IS, Park SW

Background: The number of adults with congenital heart disease (ACHD) with atrial fibrillation (AF) is expected to increase. We sought to assess the impact of AF on survival in Korean...
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A case of generalized tonic seizures related to acute myocarditis

Yang JH, Na JY, Lee J, Kim DE, Song J, Kang IS, Yeh H

It is challenging to clinically distinguish between convulsive syncope and true seizure. We describe a 7-year-old girl presenting with generalized tonic seizure caused by acquired complete atrioventricular block related to...
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Echogenic Mass Lesion within the Main Pulmonary Artery in a Neonate

Jeong LE, Na JY, Huh J, Kang IS, Yang JH, Jun TG, Song JY

Here we present a rare case of pulmonary arterial thrombosis associated with a ductus arteriosus aneurysm that caused severe pulmonary stenosis. A 5-day-old newborn was admitted to our hospital for...
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Outcomes and dynamic changes of the mitral valve after surgical repair of mitral regurgitation in patients with an atrial septal defect

Lee OJ, Song J, Huh J, Kang IS, Yang JH, Jun TG

PURPOSE: We purposed to determine the outcomes of surgical mitral valve repair in patients with atrial septal defect (ASD) and mitral regurgitation (MR) and determine factors associated with good outcomes. METHODS:...
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Pulmonary Arterial Hypertension and Pregnancy: Single Center Experience in Current Era of Targeted Therapy

Lim K, Chang SA, Oh SY, Lee JH, Song J, Kang IS, Huh J, Park SJ, Park SW, Kim DK

OBJECTIVES: To report our experiences in pregnant patients with pulmonary arterial hypertension (PAH) who were treated with targeted therapy. METHODS: From 2011 to 2017, women who decided to maintain pregnancies in...
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Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center

Kim MS, Song A, Im M, Huh J, Kang IS, Song J, Yang A, Kim J, Kwon EK, Choi EJ, Han SJ, Park HD, Cho SY, Jin DK

PURPOSE: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before...
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The Effect of Multidisciplinary Approach on the Birth Rate of Fetuses with Prenatally Diagnosed Congenital Heart Disease

Kim ST, Song J, Huh J, Kang IS, Yang JH, Jun TG, Oh SY, Choi SJ, Roh CR

BACKGROUND: This study aimed to determine the effect of a multidisciplinary approach on the birth rate of fetuses with prenatally diagnosed congenital heart diseases (CHDs). METHODS: Among the fetuses of 724...
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Anomalous Origin of the Right Subclavian Artery in a Patient with D-transposition of the Great Arteries

Park H, Song J, Huh J, Kang IS, Jun TG, Yang JH

This case report concerns a young patient with an extremely rare combination of d-transposition of the great arteries (d-TGA) and anomalous origin of the right subclavian artery. In our patient,...
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Outcomes of transcatheter closure of ductus arteriosus in infants less than 6 months of age: a single-center experience

Choi GJ, Song J, Kim YS, Lee H, Huh J, Kang IS

PURPOSE: Transcatheter device closure of patent ductus arteriosus (PDA) is challenging in early infancy. We evaluated PDA closure in infants less than 6 months old. METHODS: We performed a retrospective review...
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Erratum: Early Experiences Using Cocoon Occluders for Closure of a Ventricular Septal Defect

Park H, Song J, Kim ES, Huh J, Kang IS

There was an error in Figure 2B and C. The patient ID should be removed to avoid personal information disclosure. The authors apologize for any inconvenience that this may...
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A Case of Pediatric Unprovoked Deep Vein Thrombosis due to Combined Hereditary Thrombophilia of Antithrombin III and Protein S Deficiency

Kim JY, Kang IS, Kim HJ

Unprovoked deep vein thrombosis (DVT) is uncommon in pediatric patients and, among those, combined hereditary thrombophilia is particularly rare. We present a 9-year-old Korean boy who developed lower extremity pain...
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Coronary Artery Bypass Grafting with Arterial Grafts in Patients with Kawasaki Disease Affecting the Coronary Artery: a Korean Single-Center Study

Jeong DS, Han W, Lee YT, Kim WS, Song J, Kang IS, Park PW

BACKGROUND: This study aimed to review the long-term clinical outcomes and graft patency of coronary artery bypass grafting (CABG) using arterial grafts in patients with Kawasaki disease (KD) affecting the...
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Early Experiences Using Cocoon Occluders for Closure of a Ventricular Septal Defect

Park H, Song J, Kim ES, Huh J, Kang IS

BACKGROUND: Transcatheter device closure of ventricular septal defect (VSD) has become an attractive alternative to surgery. We report here on our early experiences of transcatheter closure of VSD using Cocoon...
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Double-Fold Operation with a Partial Incision and Continuous Buried Suture

Kang IS, Choi JS, Hong JG

BACKGROUND: The double fold operation is one of the most common aesthetic surgeries in Korea. There are many methods to make double fold using non-incision, incision and partial incision. Patients...
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Reconstruction of the Three-Dimensional Mandibulofacial Defects Using a Single Cutaneous Perforator-Based Fibula Osteocutaneous Flap

Kang IS, Ko JG, Choi JS, Lim JS, Kim MC

The reconstruction of the mandibulofacial defects is a difficult task when there are full-thickness cheek defects involving mandible, inner mucosa and outer skin. There are several reconstructive options for the...
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How Long Can the Next Intervention Be Delayed after Balloon Dilatation of Homograft in the Pulmonary Position?

Jeong HI, Song J, Choi EY, Kim SH, Huh J, Kang IS, Yang JH, Jun TG

BACKGROUND AND OBJECTIVES: We investigated the effectiveness of balloon dilatation of homograft conduits in the pulmonary position in delaying surgical replacement. SUBJECTS AND METHODS: We reviewed the medical records of patients...
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