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The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation

Jang JA, Sohn YB, Lee JH, Park MS

Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies...
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An Esophageal Leiomyoma Mistaken as an Esophageal Duplication Cyst

Seo WY, Kim GH, I H

Esophageal leiomyoma is a benign tumor that accounts for two-thirds of esophageal benign tumors. In general, patients with esophageal leiomyoma are asymptomatic; however, as the tumor grows in size, symptoms...
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Alimentary Tract Duplication in Pediatric Patients: Its Distinct Clinical Features and Managements

Kim SH, Cho YH, Kim HY

Purpose: Alimentary tract duplication (ATD) is a rare congenital condition that may occur throughout the intestinal tract. Clinical symptoms are generally related to the involved site, size of duplication, or...
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Beckwith-Wiedemann Syndrome and Jacobsen Syndrome Caused by 11pter Duplication and 11qter Deletion Inherited from Paternal Pericentric Inversion

Choi WK, Lim SE, Kim GH, Lee BH, Seol CA, Seo EJ

We report a case of Beckwith-Wiedemann syndrome (BWS) and Jacobsen syndrome (JBS) due to 11pter trisomy and 11qter monosomy caused by paternal inv(11)(p15.1q24.2). The patient was born premature and had...
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Modified Puestow Procedure for Chronic Pancreatitis in a Child Due to Annular Pancreas and Duodenal Duplication: A Case Report

Alatas FS, Masumoto K, Matsuura T, Pudjiadi AH, Taguchi T

An 18-year-old woman with annular pancreas and duodenal duplication presented with recurrent acute pancreatitis and underwent a resection of duodenal duplication. However, the patient experienced recurrent abdominal pain after resection....
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A newborn with developmental delay diagnosed with 4q35 deletion and 10p duplication

Kim BJ, Jang W, Kim M, Youn Y

We report the case of an infant with a 4q35.1 deletion with 10p duplication. This mutation is rarely reported in the literature and has been found to have variable clinical...
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Circulating Respiratory Syncytial Virus Genotypes and Genetic Variability of the G Gene during 2017 and 2018/2019 Seasonal Epidemics Isolated from Children with Lower Respiratory Tract Infections in Daejeon, Korea

Kang HM, Park KC, Park J, Kil HR, Yang EA

Background: Respiratory syncytial virus (RSV) is a major pathogen causing respiratory tract infections in infants and young children. The aim of this study was to confirm the genetic evolution of...
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Duplication of the odontoid process with other congenital defects of the craniocervical Junction: case report and review of the literature

Zeoli T, Iwanaga J, Bui C, Dumont AS, Tubbs RS

Duplication of the odontoid process remains a rare developmental pathology that is underrepresented in the current literature. As the pivot point for the craniovertebral junction, the odontoid process is vital...
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Fabrication of dentures for a patient with unstable mandibular movements: A case report

Han SR, Jeong CM, Yun MJ, Huh JB, Lee SH, Lee H

For patients with unstable mandibular movements and centric relation of the mandible due to long-term use of ill-fitting dentures, the successful fabrication of new dentures is challenging. Before fabrication new...
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Duplicated Internal Auditory Canal: High-Resolution CT and MRI Findings

Wang L, Zhang L, Li X, Guo X

OBJECTIVE: To summarize the high-resolution computed tomography (HRCT) and magnetic resonance imaging (HRMRI) features of duplicated internal auditory canals (DIACs). MATERIALS AND METHODS: Ear HRCT data of 64813 patients with sensorineural...
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Identification of Potocki–Lupski syndrome in patients with developmental delay and growth failure

Jun S, Lee Y, Oh A, Kim GH, Seo E, Lee BH, Choi JH, Yoo HW

PURPOSE: Potocki–Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in...
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Trisomy 12p Syndrome Secondary to a Balanced Maternal Translocation [46,XX, t(12;22)(p11.2;p13)]

Gang MH, Lee YW, Lim HH, Chang MY

Trisomy 12p is a rare chromosomal anomaly. It causes dysmorphic features, multiple congenital anomalies, neonatal complications, and mental retardation. We present a case of complete and pure trisomy 12p syndrome...
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Rehabilitation with implant-supported fixed dental prostheses using digital duplication technique on customized artificial tooth, interim denture and implant surgical template: A case report

Jeong DG, Oh KC, Shim JS, Park JM

Bone and soft tissue conditions are important for successful implant treatment. But, the placement itself is also very important. Implants which is installed in the wrong position result in the...
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Trends and Appropriateness of Outpatient Prescription Drug Use in Veterans

Lee IH, Shim DY

OBJECTIVE: This study analyzed the national claims data of veterans to generate scientific evidence of the trends and appropriateness of their drug utilization in an outpatient setting. METHODS: The claims data...
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Giant Duplication Cyst Presenting as a Discharging Umbilicus

Garg RK, Bawa M, Narasimha Rao KL

Alimentary tract duplication cysts are rare congenital anomalies, most commonly located in the ileum, but may present anywhere from mouth to anus.Clinically, they may be asymptomatic, incidentally diagnosed or may...
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Cysts of Gastrointestinal Origin in Children: Varied Presentation

Tiwari C, Shah H, Waghmare M, Makhija D, Khedkar K

PURPOSE: Abdominal cysts of gastrointestinal origin are rare. Their rarity and varied clinical presentations make their pre-operative diagnosis difficult. METHODS: Fourteen patients with histological diagnosis of cysts of gastrointestinal origin admitted...
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“Intraluminal” Pyloric Duplication: A Case Report

Lee KD, Kato Y, Lane GJ, Yamataka A

We report a neonatal case of “intraluminal” pyloric duplication cyst, causing gastric obstruction after birth. Endoscopy revealed a submucosal cystic lesion approximately 15 mm in size arising from the anterior...
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Anterior Anorectocolonic Tubular Duplication Presenting as Rectovestibular Fistula in an Infant

Kim JY, Youn JK, Kim SH, Kim HY, Jung SE, Park KW

Anorectal duplications account for only 5% of gastrointestinal duplications, and cases with involvement of the anal canal are much rarer. Nearly all anorectal duplications are posterior to the rectum; duplications...
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A Novel 1.13 Mb Interstitial Duplication at 19q13.32 Causing Developmental Delay and Microcephaly in a Pediatric Patient: the First Asian Case Report

Rim JH, Kim JA, Yoo J

Only 6 patients with partial trisomy of the long arm of chromosome 19 (19q), caused by direct interstitial duplications, have been reported until today. Herein, we report a pediatric patient...
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Evolutionary and Comparative Genomics to Drive Rational Drug Design, with Particular Focus on Neuropeptide Seven-Transmembrane Receptors

Furlong M, Seong JY

Seven transmembrane receptors (7TMRs), also known as G protein-coupled receptors, are popular targets of drug development, particularly 7TMR systems that are activated by peptide ligands. Although many pharmaceutical drugs have...
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