• Journal of the korean academy of Pediatric Dentistry
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• v.27 no.1
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• pp.1-6
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• 2000

Dentinogenesis imperfecta is an inherited disorder of dentin formation, usually exhibiting an autosomal dominant mode of transmission. Type I dentinogenesis imperfecta occurs in patients afflicted with osteogenesis imperfecta. Type II dentinogenesis imperfecta is not associated with osteogenesis imperfecta. Type III dentinogenesis imperfecta (Brandywine type) occurs in a racial isolate area in the state of Maryland. In all three types, teeth of both dentitions are affected with variable clinical appearances. The teeth are opalescent with the color ranging from bluish-gray to brown to yellowish. The dentin is abnormally soft, providing inadequate functional support to the overlying enamel. Although the enamel is normal, it fractures or chips away easily, exposing the occlusal and incisal dentin. The exposed soft dentin often undergoes rapid and severe functional attrition. The teeth exhibit bulb-shaped crowns with constricted cementoenamel junctions and thin roots. The teeth will exhibit varying stages of obliteration of the coronal and root pulpal chambers. The cementum, periodontal ligament and supporting alveolar bone appear normal. The enamel is normal. The mantle dentin remains nearly normal, whereas the remaining dentin is severely dysplastic. The dentinal tubules are disoriented, irregular, widely spaced, and usually larger than normal.

• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.3
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• pp.562-570
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• 2008

Amelogenesis imperfecta is a group of hereditary defects of enamel, unassociated with any other generalized defects. It is classified into 14 subtypes according to different clinical and genetic features. According to its clinical features, it is classified into hypoplastic type, hypocalcified type and hypomaturation type. However, these features tend to co-exist often. Dental features associated with amelogenesis imperfecta include quantitative and qualitative enamel deficiencies, pulpal calcification, root malformations, abnormal eruption, impaction of permanent teeth, progressive resorption of root and crown, congenital missing teeth and anterior and posterior open bite occlusions. The first case patient is a 16 month-old child with discoloration of deciduous teeth. All of her deciduous and permanent dentition has shown amelogenesis imperfecta. The restorational, orthodontic and recent prosthodontic treatments have been completed. Another patient is a 9 year and 3 month-old child with amelogenesis imperfecta in both deciduous and permanent dentition. The restoration has been done and the prosthodontic treatment is planned after the completion of growth. Above cases indicate that amelogenesis imperfecta occurs both in deciduous and permanent dentition, and it requires the long term treatment and care.

• Journal of the korean academy of Pediatric Dentistry
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• v.36 no.4
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• pp.601-606
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• 2009

Amelogenesis Imperfecta (AI) is a genetic disorder which retards the development of enamel and it can be classified into three types: hypoplastic, hypomaturation, hypocalcified type. This can occur both in deciduous and permanent dentition. A 8 year 8 month old patient with a chief complaints of delayed eruption on upper anteriors, calculus deposit on lower anteriors and anterior openbite visited the clinic. Anteriors had thin layer of enamel and were very narrow. Especially lower anteriors had rough surface and were in bad shape. Teeth were very hypersensitive to thermal changes. Upper and lower first molars showed severe attrition on the occlusal surface. Radiographs also verified hypoplastic enamel in the whole dentition including the teeth in the tooth bud. The patient was diagnosed as hypoplastic AI, and is being treated at the pediathc and prosthodontic department of the Kyunghee dental university hospital. To improve the function, esthetics, hypersensitivity of the AI patients, restorations on the posteriors and the anteriors with oral hygiene instruction are necessary, Constant follow-up check is needed until full growth and after full growth, cooperative care with the other department is needed.

• Tuberculosis and Respiratory Diseases
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• v.57 no.5
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• pp.489-493
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• 2004

Unilateral pulmonary artery agenesis is a rare congenital anomaly usually associated with other cardiovascular anomalies such as tetralogy of Fallot or septal defect. Unilateral pulmonary artery agenesis without other coexisting cardiovascular abnormality (isolated unilateral pulmonary artery) is extremely rare and often asymptomatic until adulthood. In these patients, diagnostic clue is found in a plain chest roentgenogram, showing a hyperlucent contracted hemithorax. We have recently experienced a case of isolated right pulmonary artery agenesis, which was diagnosed by chest dynamic CT, perfusion scan, echocardiogram and 3-dimensional reconstruction cardiac CT angiography in a 50-year old female who had suffered from mild dyspnea on exertion and improved with conservative treatment. We report this case with a brief review of the relevant literature.

• Journal of the korean academy of Pediatric Dentistry
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• v.37 no.4
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• pp.467-471
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• 2010

Amelogenesis imperfecta, one of the dental genetic disease, is clinically and genetically complex disease. Amelogenesis imperfecta can be classified into three major categories according to clinical phenotype; hypoplastic, hypomaturation, and hypocalcification. Recently a novel gene, Fam83h, was identified to cause autosomal dominant hypocalcification amelogenesis imperfecta, however its functional role in the pathogenesis of enamel defect is not known yet. So this study was aimed to identify the knockdown effect of Fam83h gene on the amelogenin mRNA expression via shRNA transfection into immortalized ameloblast cell line. The result showed that the knockdown of Fam83h did not influence the amelogenin expression. Further study of the functional role of Fam83h gene should be performed to understand the complex nature of amelogenesis as well as molecular pathogenesis of amelogenesis imperfecta.

• Journal of the korean academy of Pediatric Dentistry
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• v.44 no.2
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• pp.164-169
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• 2017

Dentinogenesis imperfecta type II (DGI-II) is an inherited disorder affecting the dentin matrix and is related to mutations in the dentin sialophosphoprotein (DSPP) gene. The protein encoded by the DSPP gene undergoes extensive posttranslational modifications. Dentin phosphoprotein (DPP), one of the DSPP expressed products, has unique composition with highly repetitive Asp-Ser-Ser amino acid residues and is related to the maturation of dentin mineralization. We aimed to identify mutation in DSPP, including the DPP coding region, contributing to inherited dentin defects in a Korean family with DGI-II. Clinical and radiographic examinations were performed, and all five exons and exon-intron boundaries of the DSPP gene were sequenced. Additionally, allele-specific cloning for highly repetitive DPP region was performed. By sequencing and cloning, a heterozygous single nucleotide deletion (c.2688delT) was identified. The identified mutation caused a frameshift in the DPP coding region. This frameshift mutation would introduce hydrophobic amino acids instead of hydrophilic amino acids and would result in a change in the characteristics of DPP.

• Journal of Chest Surgery
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• v.30 no.1
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• pp.108-111
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• 1997

Congenital unilateral agenesis of pulmonary artery is a rare anomaly and it usually occurs in association with other cardiac anomaly such as tetralogy of Fallot. Since most patients affected by this defect without associated congenital cardiac anomaly or pulmonary Infection are asymptomatic, the clinical diagnosis of this anomal is first recognized by a characteristic pattern in chest roentgenogram taken as a routine checking; the findings on chest film consists of cardiac and mediastinal displacement, absence of the pulmonary arterial shadow, smaller hemithorax, and elevationof the hemidiaphragm, all on the affected side. We experienced rlght pulmonary artery agenesis in a 48 year-old male, who complained of massive hemoptysis, and it was diagnosed by digital subtraction pulmonary arteriogram and perfusin scan, and treated by right middle and lower lobe bi-lobectomy, and we report this case with the review of relevant literatures.

• Journal of Chest Surgery
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• v.34 no.9
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• pp.724-728
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• 2001

We report a case of an 8 years and 11 month-old male patient who had developed severe tricuspid insufficiency(TI) after correction of anomalous origin of the left coronary artery from the pulmonary artery(ALCAPA). Transthoracic echocardiogram and coronary angiography confirmed ALCAPA, ischemic mitral regurgitation and trivial TI. He underwent direct reimplantation of the left coronary artery to the aortic root by using additional cannulation at the main pulmonary artery for arterial inflow and cardioplegia delivery to the left coronary artery. After the correction of ALCAPA, transesophageal echocardiogram(TEE) revealed good antegrade flow at the aortic implantation site of the left coronary artery and severe TI(Gr III-IV/IV). Cardiopulmonary bypass was reestablished and tricuspid valve was repaired with Kay-type annuloplasty, artificial chordae formation and chordal shortening plasty. The postrepair TEE revealed trivial to mild TI.

• The Journal of Korean Academy of Prosthodontics
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• v.52 no.4
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• pp.317-323
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• 2014

Dentinogenesis Imperfecta, with a high incidence rate of 1 : 6 - 8000, is inherited by autosomal dominant genetic transmission. This dental disorder causes discoloration of the teeth and the enamel and dentin show hypoplastic or hypocalcified defects which lead to frequent fractures and rapid attrition. Therefore, timely treatment is necessary for the preservation of the remaining teeth. In this particular case, a 19-year-old patient suffering from Type 1 dentinogenesis imperfecta showed signs of brownish hued teeth with multiple fractures, a loss of vertical dimension, excessive interdental space in the maxillary anterior teeth, and a lack of 5 posterior teeth. To improve the esthetic appearance of the anterior teeth, the vertical dimension was increased. Resin caps were used to alleviate the difficulty of taking an impression of multiple teeth at once. Monolithic zirconia materials used in this case showed high fracture strength and the ability to mask the discoloration of the teeth and therefore, functionally and esthetically favorable results were achieved.

• Journal of Chest Surgery
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• v.42 no.1
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• pp.9-13
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• 2009

Background: Hypoplastic left heart syndrome is uniformly fatal if this condition is not properly treated. We reviewed the surgical results of treating hypoplastic left heart syndrome, and we evaluated the hemodynamics and functional status of these patients after they underwent a Fontan operation. Material and Method: To assess the surgical results, we retrospectively reviewed the medical records of 6 (M/F=4/2) patients who underwent a staged operation, including a Norwood procedure, a bidirectional Glenn procedure and a Fontan procedure between October 1997 to May 2005. The mean age of the patients was $17.3{\pm}10.8$ days (range: 9~36 days) at the $1^{st}$ staged operation, $8.9{\pm}7.1$ months (4.6~23.3 months) at the $2^{nd}$ staged operation (the Bidirectional Glenn procedure) and $32.4{\pm}9.8$ months at the final staged operation (the Fontan procedure). During the $2^{nd}$ staged operation, one of the patients received tricuspid valve repair due to regurgitation. All the patients underwent an extracardiac Fontan procedure using Gore-Tex conduit (20 mm: 2 patients, 18 mm: 4 patients) and one of them required fenestration. Result: 21 patients underwented a Norwood procedure. There were 7 early deaths and 4 interstage deaths. Bidirectional cavopulmonary shunt was performed in 10 patients and the Fontan procedure was done in 6 (mortality: 1 patient, Flow up loss: 1 patient, Awaiting a Fontan procedure: 2 patients). After the Fontan procedure, there was no complication except for one case of post operative bleedings. All the patients had good ventricular function and 2 had grade I tricuspid regurgitation, as noted on their echocardiography. The average follow up period after the Fontan procedure was $19.6{\pm}14.9$ months (range: 1.5~39.1 month). All the patients had normal sinus rhythm and they were put on aspirin and cardiac medication. During follow up period, all the patients had a good functional status (NYHA functional class I). Conclusion: All the patients who suffered with hypoplastic left heart syndrome and who underwent a Fontan procedure achieved a good hemodynamic and functional status, even though there was a relatively high operative mortality rate after stage I Norwood palliation. Therefore, thise staged operation should be strongly recommended as an important surgical strategy for treating hypoplastic left heart syndrome.