• The Journal of Korea Assosiation for Disability and Oral Health
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• v.12 no.2
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• pp.92-95
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• 2016

Beckwith-Wiedemann syndrome comprises multiple congenital anomalies with a risk of development of childhood tumors. Macroglossia is the predominent finding in Beckwith-Wiedemann syndrome and other findings include postnatal somatic gigantism, abdominal wall defects, nevus flammeus of the face, congenital heart defects, and cleft palate. The aim of this case presentation is to describe the dental treatment of a child with Beckwith-Wiedemann syndrome. A 3-year-old boy with Beckwith-Wiedemann syndrome visited to the Seoul National University Dental Hospital for dental evaluation and treatment. Due to the multiple caries and poor cooperation, we planned to perform the dental procedure under general anesthesia. The dental procedure was successfully performed and there was no airway complications after extubation. This case suggests that general anesthesia may be useful for the patient with uncooperative Beckwith-Wiedemann syndrome, since macroglossia and laryngomalacia may exacerbates airway compromise during dental sedation.

• Clinical and Experimental Pediatrics
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• v.49 no.10
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• pp.1056-1060
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• 2006

Purpose : As hearing ability affects language and cognitive development, early detection and intervention of congenital hearing defects is very important. We analyzed the result of newborn hearing screening using automated auditory brainstem response and estimated the incidence of congenital hearing defects in newborn infants in Korea. Methods : Hearing screening tests were done on 7,218 newborn infants who were delivered at Cheil General Hospital from July 1, 2004 to June 30, 2005. The first screening test was done on the second day of life with automated auditory brainstem response(AABR) using $ALGO{\bigcirc}^{(3)}$ Newborn hearing screener($Natus^{(R)}$ Medical Incorporated, San Carlos, USA) with 35 dB sound level. The newborn infants who did not pass the initial screening test took the second screening AABR test before discharge from the nursery. Infants who did not pass these screenings at the nursery were followed up at the Department of Otorhinolaryngology, Samsung Seoul Hospital. Results : Total 7,218 infants(83.3 percent of total 8,664 live births of the Cheil General Hospital) were screened in the nursery, and 55 of them failed to pass the newborn screening. Among 55 infants who were referred, six were lost during follow-up, and 14 were confirmed as hearing impaired. Six of them(42.8 percent) do not have any risk factors for hearing impairment. We can estimate that the incidence of hearing defects is about 1.9-2.8 per 1,000 live births. Conclusion : Automated auditory brainstem response is an effective tool to screen the hearing of newborn infants. Congenital hearing loss is more frequent than metabolic diseases on which screening tests are available in the newborn period. About 40 percent of infants who have hearing defects do not have any risk factors for hearing impairment. Therefore, universal newborn hearing screening must be recommended to all neonates.

• International Journal of Vascular Biomedical Engineering
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• v.1 no.2
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• pp.36-41
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• 2003

Both flow visualizations and computational fluid dynamics were performed to determine hemodynamics in a total cavopulmonary connection (TCPC) model for surgically correcting congenital heart defects. From magnetic resonance images, an anatomically correct glass model was fabricated to visualize steady flow. The total flow rates were 4, 6 and 8L/min and flow rates from SVC and IVC were 40:60. The flow split ratio between LPA and RPA was varied by 70:30, 60:40 and 50:50. A pressure-based finite-volume software was used to solve steady flow dynamics in TCPC models. Results showed that superior vena cava(SVC) and inferior vena cava(IVC) flow merged directly to the intra-atrial conduit, creating two large vortices. Significant swirl motions were observed in the intra-atrial conduit and pulmonary arteries. Flow collision or swirling flow resulted in energy loss in TCPC models. In addition, a large intra-atrial channel or a sharp bend in TCPC geometries could influence on energy losses. Energy conservation was efficient when flow rates in pulmonary branches were balanced. In order to increase energy efficiency in Fontan operations, it is necessary to remove a flow collision in the intra-atrial channel and a sharp bend in the pulmonary bifurcation.

• Journal of Chest Surgery
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• v.25 no.4
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• pp.383-390
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• 1992

From Oct. 1983 to Dec. 1991, 135 cases of atrial septal defect which were operated at the department of Thoracic and Cardiovascualr Surgery, Chonnam National University Hospital, were analysed retrospectively. They were 23.7% of all congenital heart diseases operated in the same period. Among the 135 cases, 62 cases were male and 73 cases were female. Their ages were ranged from 2 to 54 years and the mean was 18 years old. Main symptoms at admission were exertional dyspnea[70.37%], frequent URI[49.12%] and palpitation[32.59%], but 12 cases[8.88%] were asymptomatic. Electrocardiographic findings wer regular sinus rhythm in 96.99%, RVH in 64.66%, incomplete RBBB in 27.06%, complete RBBB in 42.10%, and first degree AV block in 9.02% All 135 cases were operated under the direct vision with cardiopulmonary bypass. Anatomically, most frequent type was fossa ovalis defect with complete septal rim[78.52%]. 117 of 135 ASD patients were repaired with pathch closure[86.66%] and 14 patients were repaired with direct closure[10.37%] and 4 patients in mutiple ASD were repaired with patch and direct closure[2.96%]. Postoperative complications were occured in 21 cases[15.56%], and they were wound infection, pleural effusion, postoperative bleeding, urinary tract infection, and heart failure mainly. One case died due to epidural hematoma and operative mortality was 0.74%.

• Clinical and Experimental Pediatrics
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• v.58 no.9
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• pp.317-324
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• 2015

Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct Sanger sequencing and exome sequencing revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean patient. The high detection rate of KMT2D and KDM6A mutations (92.3%) is expected owing to the strict criteria used to establish a clinical diagnosis. Increased awareness and understanding of KS among clinicians is important for diagnosis and management of KS and for primary care of KS patients. Because mutation detection rates rely on the accuracy of the clinical diagnosis and the inclusion or exclusion of atypical cases, recognition of KS will facilitate the identification of novel mutations. A brief review of KS is provided, highlighting the clinical and genetic characteristics of patients with KS.

• Journal of Chest Surgery
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• v.38 no.7 s.252
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• pp.501-503
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• 2005

Coronary artery fistula accounts for $0.27\~0.4\%$ of all congenital cardiac defects. In more than $50\%$ of the cases, right coronary artery is involved. The fistula drains into the right heart in $92\%$ of the cases. Left heart is the site of termination in only $8\%$ of the cases, especially less left ventricle $(3\%)$. We experienced a case of right coronary artery to left ventricular fistula in a 3-year-old boy who was diagnosed incidentally and underwent ligation of fistula.

• Journal of Chest Surgery
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• v.16 no.3
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• pp.289-294
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• 1983

The report is concerned to our experience of 12 cases of open heart surgery under the extracorporeal circulation at the Department of Thoracic and Cardiovascular Surgery, Chosun University Hospital during the period between Nov, 1979 and April, 1983. 1. There were 4 cases of congenital anomaly and 8 cases of acquired heart disease. 2. There were 6 male and 6 female patients with a mean age of 20 years. [range 9 to 33 years]. 3. The cases induced 2 ventricular septal defect, 2 atrial septal defects and 8 acquired valvular heart diseases. 4. The surgical managements were 2 primary repair for atrial septal defect and 2 patch closure for ventricular septal defect, 1 triple valve replacement [AVR MVR TVR], 1 aortic valve replacement, 4 double valve replacement [AVR MVR] and 2 open mitral commissurotomy for pure mitral stenosis. 5. The average cardiopulmonary bypass time was 61.5 minutes for congenital heart disease and 201.4 minutes for acquired valvular heart disease and the average aortic cross clamping time was 36.75 minutes for the former and 165.6 minutes for the latter. 6. Postoperatively, there were 1 Alopecia, 1 Electric burn and 1 wound infection as complication. 7. Overall operative mortality was 8.3%. 7. All patients received valve replacement were recommended anticoagulation with persantin.

• Archives of Plastic Surgery
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• v.45 no.2
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• pp.118-127
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• 2018

Background A variety of island flaps can be based on the superficial temporal artery with variable tissue composition. They can be used for defect reconstruction, cavity resurfacing, facial hair restoration, or contracture release. Methods Seventy-two patients underwent facial reconstruction using a superficial temporal artery island flap from October 2010 to October 2014. The defects had various etiologies, including trauma, burns, tumors, exposed hardware, and congenital causes. We classified the patients by indication into 5 groups: cavity resurfacing, contracture release, facial hair restoration, skin coverage, and combined. The demographic data of the patients, defect characteristics, operative procedures, postoperative results, and complications were retrospectively documented. The follow-up period ranged from 24 to 54 months. Results A total of 24 females and 48 males were included in this study. The mean age of the patients was $33.7{\pm}15.6years$. The flaps were used for contracture release in 13 cases, cavity resurfacing in 10 cases, skin coverage in 17 cases, facial hair restoration in 19 cases, and combined defects in 13 cases. No major complications were reported. Conclusions Based on our experiences with the use of superficial temporal artery island flaps, we have developed a detailed approach for the optimal management of patients with composite facial defects. The aim of this article is to provide the reader with a systematic algorithm to use for such patients.

• Archives of Plastic Surgery
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• v.41 no.1
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• pp.45-49
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• 2014

Background Preauricular sinuses are congenital abnormalities caused by a failure of fusion of the primitive tubercles from which the pinna is formed. When persistent or recurring inflammation occurs, surgical excision of the infected tissue should be considered. Preauricular defects inevitably occur as a result of excisions and are often difficult to resolve with a simple suture; a more effective reconstruction technique is required for treating these defects. Methods After total excision of a preauricular sinus, the defect was closed by a plastic surgeon. Based on the depth of the defect and the degree of tension when apposing the wound margins, the surgeon determined whether to use primary closure or a posterior auricular flap. Results A total of 28 cases were examined. In 5 cases, including 2 reoperations for dehiscence after primary repair, reconstruction was performed using posterior auricular transposition flaps. In 16 cases of primary closure, the defects were closed using simple sutures, and in 7 cases, closure was performed after wide undermining. Conclusions If a preauricular defect is limited to the subcutaneous layer and the margins can be easily approximated, primary closure by only simple suturing may be used to perform the repair. If the defect is deep enough to expose the perichondrium or if there is tension when apposing the wound margins, wide undermining should be performed before primary closure. If the extent of the excision exposes cartilage, the procedure follows dehiscence of the primary repair, or the tissue is not sufficiently healthy, the surgeon should use a posterior auricular flap.

• Childhood Kidney Diseases
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• v.26 no.1
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• pp.40-45
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• 2022

Purpose: Chronic kidney disease (CKD) has various underlying causes in children. Identification of the underlying causes of CKD is important. Genetic causes comprise a significant proportion of pediatric CKD cases. Methods: In this study, we performed whole-exome sequencing (WES) to identify genetic causes of pediatric CKD. From January to June 2021, WES was performed using samples from pediatric patients with CKD of unclear etiology. Results: Genetic causes were investigated using WES in 37 patients (17 males) with pediatric CKD stages 1 (n=5), 2 (n=7), 3 (n=2), 4 (n=2), and 5 (n=21). The underlying diseases were focal segmental glomerulosclerosis (n=9), congenital anomalies of the kidney and urinary tract including reflux nephropathy (n=8), other glomerulopathies (n=7), unknown etiology (n=6), and others (n=7). WES identified genetic causes of CKD in 12 of the 37 patients (32.4%). Genetic defects were discovered in the COL4A4 (n=2), WT1 (n=2), ACTN4, CEP290, COL4A3, CUBN, GATA3, LAMA5, NUP107, and PAX2 genes. WT1 defects were found in patients whose pathologic diagnosis was membranoproliferative glomerulonephritis, and identification of CUBN defects led to discontinuation of immunosuppressive agents. Genetic diagnosis confirmed the clinical diagnosis of hypoparathyroidism, sensorineural deafness, and renal disease; Alport syndrome; and Joubert syndrome in three of the patients with CKD of unknown etiology (COL4A4 [n=2], CUBN [n=1]). Extrarenal symptoms were considered phenotypic presentations of WT1, PAX2, and CEP290 defects. Conclusions: WES provided a genetic diagnosis that confirmed the clinical diagnosis in a significant proportion (32.4%) of patients with pediatric CKD.