• Maxillofacial Plastic and Reconstructive Surgery
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• v.29 no.1
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• pp.91-96
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• 2007

Amelogenesis imperfecta (AI) is a hereditary disease that affects enamel formation. The patients with AI have esthetic and functional problems due to damage of multiple teeth. So most AI patients resolve these problem through the conservative and prosthodontic treatments. In our case, It was difficult to obtain good results in means of conservative and prosthodontic treatments, because the AI patient had skeletal Class III malocclusion. Moreover, because of vertical dimension loss due to severe dental caries and maxillofacial skeletal disharmony, the ordinary prosthodontic treatment was troublesome. So we planned orthognathic surgery to resolve these problems. After the endodontic treatment, temporary restoration was delivered for stable post-operative occlusion. Then orthognathic surgery was done, and final restoration was delivered in stable period. We obtained satisfactory results in esthetic and functional aspects through multidisciplinary management(conservative treatment, prosthodontics and orthognathic surgery).

• Clinical and Experimental Reproductive Medicine
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• v.35 no.2
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• pp.99-110
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• 2008

Objectives: Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples carrying genetic conditions that may affect their offspring. Osteogenesis imperfecta (OI) is an autosomal dominant disorder of connective tissue characterized by bone fragility and low bone mass. At least 95% of cases are caused by dominant mutations in the COL1A1 or COL1A2. In this study, we report on our experience clinical outcomes with 5 PGD cycles for OI in two couples. Methods: Before clinical PGD, we assessed the amplification rate and allele drop-out (ADO) rate of alkaline lysis and nested PCR protocol using heterozygous patient's single lymphocytes in the pre-clinical diagnostic tests for OI. We performed 5 cycles of PGD for OI by nested PCR for the causative mutation loci, COL1A1 c.2452G>A and c.3226G>A, in case 1 and case 2, respectively. The PCR products were analyzed by agarose gel electrophoresis, restriction fragment length polymorphism (RFLP) analysis with HaeIII restriction enzyme in the case 1 and direct DNA sequencing. Results: We confirmed the causative mutation loci, COL1A1 c.2452G>A in case 1 and c.3226G>A in case 2. In the pre-clinical tests, the amplification rate was 94.2% and ADO rate was 22.5% in case 1, while 98.1% and 1.9% in case 2, respectively. In case 1, a total of 34 embryos were analyzed and 31 embryos (91.2%) were successfully diagnosed in 3 PGD cycles. Eight out of 19 embryos diagnosed as unaffected embryos were transferred in all 3 cycles, and in the third cycle, pregnancy was achieved and a healthy baby was delivered without any complications in July, 2005. In case 2, all 19 embryos (100.0%) were successfully diagnosed and 4 out of 11 unaffected embryos were transferred in 2 cycles. Pregnancy was achieved in the second cycle and the healthy baby was delivered in March, 2008. The causative locus was confirmed as a normal by amniocentesis and postnatal diagnosis. Conclusions: To our knowledge, these two cases are the first successful PGD for OI in Korea. Our experience provides a further demonstration that PGD is a reliable and effective clinical techniques and a useful option for many couples with a high risk of transmitting a genetic disease.

• Pediatric Infection and Vaccine
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• v.13 no.2
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• pp.201-205
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• 2006

Immunodeficiency affected by antibody formation is most common among primary immuno-deficiencies. Selective IgA deficiency is more common but, one or more IgG subclass level is low or deficient in some patients. Patients with antibody production deficiency are vulnerable to pneumococci, staphylococci and H.influenzae leading to sinusitis, otitis media and pneumonia. A 10-year-old girl had suffered from frequent upper respiratory infections, a history of tuberculous lymphadenitis tuberculosis medication, and frequent pneumonia that requires hospital adimission. Her height and weight were below 3 percentile normal growth as a manifestation of failure to thrive. When she had another severe pneumonia, all the immunologic test was normal at first, and then we checked the IgG subclass levels. Her IgG1 was within normal, IgG2 was very low, IgG3 and IgG4 was not detected. We report a case of IgG subclass deficiency in frequent upper respiratory infection and failure to thrive.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.30 no.5
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• pp.422-427
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• 2004

Treacher Collins syndrome is inherited as an autosomal dominant trait with variable penetrance. It shows a marked variability even in the same family. This syndrome is developmental defect affecting the branchial arches. It is not usually associated with acute respiratory distress, but has symptoms of microtia, hypoplastic zygomatic bones, hypoplastic mandibular rami, and bilateral coloboma. It usually requires an emergency operation immediately after the birth. We experienced an infant with Treacher Collins syndrome who showed retrognathia, glossoptosis, microtia, and cleft palate. Intermittent cyanosis, depression of the chest, respiratory difficulty associated with airway obstruction, and swallowing difficulty were also observed. To relieve severe upper airway obstruction caused by retrognathia and glossoptosis, we simultaneously performed tongue-lip adhesion and subperiosteal release of the floor of the mouth. The respiratory and swallowing difficulties were relieved and the tongue repositioned anteriorly. We report the present case with a review of the literature.

• Journal of Chest Surgery
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• v.30 no.3
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• pp.263-269
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• 1997

From April 1987 to May 1996, 13 infants underwent a Norwood operation for complex congenital heart diseases including hypoplastic left heart syndrome (n : 7), mitral stenosis with small VSD and subaortic stenosis (n : 1), mitral atresia with ventricular septal defect, coarctation of aorta, and subaortic stenosis (n = 1), interrupted aortic arch with ventricular septal defect and subaortic stenosis (n : 1), tricuspid atresia with transposition of the great arteries (n = 1), and complex double-inlet left ventricle (n : 2). All patients without hypoplastic left heart syndrome were associated wit hypoplasia of ascending aorta and arch. Age at operation ranged from 3 days to 8.7 months (mean 60.6 $\pm$ 71.6 days, median 39 days). The operative mortality( < 30 days) was 46% (6 patients). Late mortality was 15% (2 patients). All operative deaths occured during the Erst 24 hours after the operation as a result of cardiopulmonary bypass weaning failure (5 patients) and sudden hemodynamic instability postoperatively (1 patient). Late death was due to aspiration pneumonia in two cases. There are 5 long-term survivals (39%). Three of them have undergone a two-stage repair with a modified Fontan operation in two and total cavopulmonary shunt in one at 12, 17, 4.5 months after Norwood procedure with no mortality. Two patients have entered a three-stage repair strategy by undergoing a bidirectional cavopulmonary shunt at 3 and 5.5 months after initial operation with 1 operative death. The actuarial survival rate for all patients at the first-stage operation, including hospital deaths and ate death was 30.8% at 1 year. In conclusion, the operative mortality of Norwood operation was relatively high compared to other operation for major cardiac anomalies, continuing experience will lead to an improvement in result.

• Journal of Chest Surgery
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• v.43 no.2
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• pp.161-163
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• 2010

A 12-day-old female baby underwent a Norwood procedure for hypoplastic left heart syndrome. The left superior vena cava (LSVC), which was found incidentally during the operation, was divided to facilitate surgical exposure. After the operation, she developed signs of low cardiac output and died 7 hours afterward. Autopsy findings showed that the coronary sinus was atretic at the orifice without unroofing into both atria, rendering the LSVC the sole route of coronary sinus drainage. In patients with incidentally-found LSVC during surgery, special care should be taken to leave the LSVC intact because the LSVC may be the exclusive drainage vein of the coronary venous system.

• 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 Korean Journal of Nuclear Medicine
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• v.22 no.2
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• pp.175-179
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• 1988

이소갑상선은 태생기 갑상선이동의 이상으로 발생되며 갑상선의 기능저하 및 형성부전을 흔히 동반한다. 저자들은 갑상선신티그라피로 이소갑상선이 진단된 일차성 갑상선 기능저하증 4예를 경험하여 이를 문헌고찰과 함께 보고하는 바이다.

• Journal of Chest Surgery
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• v.24 no.1
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• pp.83-87
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• 1991

A unilateral pulmonary artery agenesis, which develops occasionally as one of the associated anomalies in congenital cardiovascular defect like as tetralogy of Fallot, is very rare anomaly as an isolated congenital defect. The diagnostic approach for the pulmonary artery agenesis is first suggested by the unique appearance of the involved lung on a routinely checked chest roentgenogram, because most patients are asymptomatic unless pulmonary infection had been superimposed. We have recently experienced a case of left pulmonary artery agenesis, which was diagnosed by perfusion scan, digital subtraction angiogram and then treated by left pneumonectomy in a 9 year-old boy, and presented hereby with the review of relevant literature.

• The korean journal of orthodontics
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• v.30 no.1 s.78
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• pp.67-82
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• 2000

The purpose of this study was to present the causes and their mechanisms of eruption failure of teeth and to investigate the treatment modalities. There are so many reports about eruption failure, but most of them are dealing with local mechanical interferences. But, we have patients suffered from eruption failure of another causes. Many developmental failures show eruption problems of teeth, although in some cases, the primary failure of eruption (failure of the eruption mechanism itself) can be the primary cause. We have to know about the causes, differences, and the treatment modalities for those abnormalities.