• Annals of Pediatric Endocrinology and Metabolism
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• v.23 no.4
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• pp.169-175
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• 2018

Thyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%-15% of congenital hypothyroidism (CH). Seven genes are known to be associated with thyroid dyshormonogenesis: SLC5A5 (NIS), SCL26A4 (PDS), TG, TPO, DUOX2, DUOXA2, and IYD (DHEAL1). Depending on the underlying mechanism, CH can be permanent or transient. Inheritance is usually autosomal recessive, but there are also cases of autosomal dominant inheritance. In this review, we describe the molecular basis, clinical presentation, and genetic diagnosis of CH due to thyroid dyshormonogenesis, with an emphasis on the benefits of targeted exome sequencing as an updated diagnostic approach.

• Childhood Kidney Diseases
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• v.26 no.2
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• pp.111-115
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• 2022

Kleefstra syndrome is a rare genetic disease characterized by mental retardation, hypotonia, and a characteristic facial appearance. Furthermore, in some cases, Kleefstra syndrome is associated with various anorectal and genitourinary complications, including imperforated anus, vesicoureteral reflux, hydronephrosis, and chronic kidney disease. Herein, we present a case of Kleefstra syndrome with recurrent urinary tractinfections associated with vesicoureteral reflux and rectourethral fistula, which was treated by a multidisciplinary approach.

• Childhood Kidney Diseases
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• v.27 no.1
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• pp.1-10
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• 2023

Pediatric nephrotic syndrome (NS) is a clinical syndrome characterized by massive proteinuria, hypoalbuminemia, and generalized edema. Most childhood NS cases are idiopathic (with an unknown etiology). Traditional therapeutic approaches based on immunosuppressive agents largely support the key role of the immune system in idiopathic NS (INS), especially in the steroid-sensitive form. Although most previous studies have suggested the main role of T cell dysfunction and/or the abnormal secretion of certain glomerular permeability factors, recent studies have emphasized the role of B cells since the therapeutic efficacy of B cell depletion therapy in inducing and/or maintaining prolonged remission in patients with INS was confirmed. Furthermore, several studies have detected circulating autoantibodies that target podocyte proteins in a subset of patients with INS, suggesting an autoimmune-mediated etiology of INS. Accordingly, a new therapeutic modality using B cell-depleting drugs has been attempted, with significant effects in a subset of patients with INS. Currently, INS is considered an immune-mediated disorder caused by a complex interplay between T cells, B cells, soluble factors, and podocytes, which may vary among patients. More in-depth investigations of the pathogenic pathways of INS are required for an effective personalized therapeutic approach and to define precise targets for therapeutic intervention.

• Journal of the korean academy of Pediatric Dentistry
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• v.30 no.3
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• pp.406-414
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• 2003

Chemomechanical approach to caries removal was introduced in order to preserve the maximum amount of sound tooth structure. The efficacy of chemomechanical caries removal was assessed using microcomputed tomography which offers 3 dimensional data without destroying the tooth, and the V works program. In group 1, the density values of the sound dentin, carious dentin, and remaining dentin after chemomechanical treatment were analyzed. In group 2, the density values of the sound dentin, cavity wall prepared using high speed bur, and the remaining dentin after additional $Carisolv^{TM}$ gel application on the same cavity were analyzed. The results were as follows; 1. The density value of the remaining dentin after the $Carisolv^{TM}$ treatment was 81.8% of the sound dentin(p < 0.001). 2. The density value of the remaining dentin after the conventional rotary instrument showed no statistically significant difference from that of the sound dentin(p = 0.234).

• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.2
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• pp.313-318
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• 2008

Dens invaginatus is a rare malformation resulting from invagination of the enamel before calcification has occurred. It is mostly found in permanent maxillary lateral incisors and mandibular teeth are rarely affected by this anomaly. The malformation is estimated to affect between 0.04 % and 10 % of people and has been associated with other abnormalities such as taurodontism, microdontia, gemination and dentinogenesis imperfecta. Dens invaginatus is classified in three types with respect to the depth of invaginatus and has a broad spectrum of morphologic variations. Invagination frequently allows the entry of irritants and microorganism, which usually lead to caries, pulp infection and pulp necrosis. Root canal treatment on such invaginatus tooth may present severe problems because of its complex anatomy of the tooth. Therefore, the early diagnosis of such malformation is crucial and preventive approach is strongly recommended.

• Journal of the korean academy of Pediatric Dentistry
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• v.32 no.4
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• pp.670-674
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• 2005

Supernumerary tooth develops as a result of abnormal proliferation of the dental lamina during the initiation stage of dental development. It could be a sporadic occurrence or a hereditary transmission. Supernumerary tooth occurs with a frequency of 1 to 3%. Generally, there is a 2:1 preference for boys. It is usually found in the anterior portion of the maxilla and may be associated with complications such as impaction, malposition of permanent teeth, formation of diastema, cysts and eruption into nasal cavity, The position of supernumerary tooth found in the anterior portion of the maxilla is determined by the axis of the tooth. One third of supernumerary tooth in the anterior portion of the maxilla has no possibility of eruption due to its invertedly impacted position. However, as long as the coronal part of the follicle remains intact, migration of supernumerary tooth is possible. The migration may occur into the palate, the premolar region, the sinus or the nasal cavity. Also, growth of vertical dimension of maxilla could make surgical approach difficult as time goes by For this reason, we have found invertedly impacted mesiodens moved to the vault of the palate in the two cases, and extracted supernumerary tooth surgically.

• Journal of the korean academy of Pediatric Dentistry
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• v.40 no.1
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• pp.60-65
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• 2013

The term 'triple tooth' is used to describe a rare dental abnormality in which three teeth appear to be joined. The literature contains many reports of joined primary teeth; most cases have involved, however, the joining of two teeth, and only rarely three teeth. Triple tooth has clinical problems such as dental caries, esthetic problems, malocclusions, and periodontal problems. Therefore, it may require multi-disciplinary approach. The present study describes rare case of triple tooth between maxillary primary central and lateral incisors and a supernumerary tooth. An one-year, eleven-month old girl was seen for evaluation of swelling in the labial gingiva above a right maxillary triple tooth. She experienced traumatic dental injury in that area three weeks ago. Intraoral examination revealed an abscess and fistula in the region of the triple tooth. A radiographic examination showed that right lateral incisor was missing. Endodontic treatment and composite resin restoration was performed on the triple tooth. After follow-ups of 7 months period, there were no marked complications.

• Journal of the korean academy of Pediatric Dentistry
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• v.42 no.2
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• pp.188-196
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• 2015

Endodontic management of an immature permanent tooth with dens invaginatus poses a challenge to efficient treatment planning for the clinicians. Because it is difficult to shape, disinfect, and seal the canal space effectively, teeth with complex root canal structures often require particularly extensive and thorough treatment approaches. The purpose of this case report was to share clinical insight from the results of short-term follow-ups after regenerative endodontic treatment with a dens invaginatus. Two immature maxillary lateral incisors with Oehlers type I and III dens invaginatus and infected necrotic pulp were treated using regenerative endodontic procedures. For the type III dens invaginatus case, an unusual approach toward redesigning the complex internal structure was taken, in order to have sufficient infection control and sealing. Cone-beam computed tomography (CBCT) and a surgical operating microscope were used to aid visualization and treatment. As a result, regenerative endodontic treatment appears to be effective for managing immature permanent teeth with complex dens invaginatus, and can lead not only to clinical and radiographic resolution, but also increased thickness of the dentinal walls.

• Imaging Science in Dentistry
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• v.47 no.2
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• pp.117-122
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• 2017

Purpose: The aim of this study was to compare the use of 3-dimensional (3D) laser scanning and cone-beam computed tomography (CBCT) as methods of root surface measurement. Materials and Methods: Thirty teeth (15 maxillary first premolars and 15 mandibular first premolars) from 8 patients who required extractions for orthodontic treatment were selected. Before extraction, pre-treatment CBCT images of all the patients were recorded. First, a CBCT image was imported into simulation software (Mimics version 15.01; Materialise, Leuven, Belgium) and the root surface area of each tooth was calculated using 3-Matic (version 7.01, Materialise, Leuven, Belgium). After extraction, all the teeth were scanned and the root surface area of each extracted tooth was calculated. The root surface areas calculated using these 2 measurement methods were analyzed using the paired t-test (P<.05). Correlations between the 2 methods were determined by calculating the Pearson correlation coefficient. The intraclass correlation coefficient(ICC) was used to assess intraobserver reliability. Results: The root surface area measurements ($230.11{\pm}41.97mm^2$) obtained using CBCT were slightly greater than those ($229.31{\pm}42.46mm^2$) obtained using 3D laser scanning, but not significantly (P=.425). A high Pearson correlation coefficient was found between the CBCT and the 3D laser scanner measurements. The intraobserver ICC was 1.000 for 3D laser scanning and 0.990 for CBCT. Conclusion: This study presents a novel CBCT approach for measuring the root surface area; this technique can be used for estimating the root surface area of non-extracted teeth.

• Journal of Chest Surgery
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• v.49 no.2
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• pp.107-111
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• 2016

Hypoplastic left heart complex (HLHC) consists of less severe underdevelopment of the left ventricle without intrinsic left valvular stenosis, i.e., a subset of hypoplastic left heart syndrome (HLHS). HLHC patients may be able to undergo biventricular repair, while HLHS requires single ventricle palliation (or transplant). However, there is no consensus regarding the likelihood of favorable outcomes in neonates with HLHC selected to undergo this surgical approach. This case report describes a neonate with HLHC, co-arctation of the aorta (CoA), and patent ductus arteriosus (PDA) who was initially palliated using bilateral pulmonary artery banding due to unstable ductus-dependent circulation. A postoperative echocardiogram showed newly appearing CoA and progressively narrowing PDA, which resulted in the need for biventricular repair 21 days following the palliation surgery. The patient was discharged on postoperative day 13 without complications and is doing clinically well seven months after surgery.