• Journal of Yeungnam Medical Science
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• v.40 no.4
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• pp.419-422
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• 2023

Septo-optic dysplasia (SOD) is a rare congenital anomaly that is clinically defined by developmental delay and characteristic brain magnetic resonance imaging findings, including optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects. The occurrence of SOD is generally sporadic; however, it can be inherited rarely. Although an association with HESX1, SOX2, and SOX3 mutations has been identified, the detailed etiology is multifactorial and unclear. Here, we present the case of a 7-year-old girl who was clinically diagnosed with SOD and 15q13.3 duplication. Patients with duplication at chromosome 15q13.3 were reported to be diagnosed with autism spectrum disorder, epilepsy, and schizophrenia in previous studies. The relationship between SOD and the microduplication of 15q13.3 has not yet been explored. In this study, we suggest that there may be an association between chromosome 15q13.3 microduplication and SOD.

• Archives of Plastic Surgery
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• v.37 no.5
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• pp.589-594
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• 2010

Purpose: Full thickness skin grafts are useful in the reconstruction of facial skin defects when primary closure is not feasible. Although the supraclavicular area has been considered as the choice of donor site for large facial skin defect, many patients are reluctant to get a neck scar and some patients do not have enough skin to cover the defect owing to the same insult occurred to the neck such as burn accident. We present several cases of reconstruction of facial skin defects by freehand full-thickness skin graft from anterolateral chest wall resulting aesthetically acceptable outcome with lesser donor site morbidity. Methods: Retrospective review was performed from March, 2007 to September, 2009. 15 patients were treated by this method. Mean age was 31.5 years. The ethiology was congenital melanocytic nevus in 7 cases, capillary malformation in 5 cases and burn scar contracture in 3 cases. Mean area of lesion was measured to 67.3 cm2 preoperatively. The lesion was removed beneath the subcutaneous fatty tissue layer. The graft was not trimmed to be thin except defatting procedure. For the larger size of defect, two pieces of grafts were harvested from both anterolateral chest wall in separation and combined by suture. Results: The mean follow up period was 9.7 months. All the grafts survived without any problem except small necrotic areas in 4 cases, which healed spontaneously under conventional dressings in 6 weeks postoperatively. Color match was relatively excellent. There were 2 cases of hyperpigmentation immediately, but all of them disappeared in a few months. Conclusion: In cases of large facial skin defects, the anterolateral chest wall may be a good alternative choice of full-thickness skin graft.

• Journal of Chest Surgery
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• v.35 no.7
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• pp.517-522
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• 2002

Background: Congenital heart surgery may lead to myocardial swelling and hemodynamic instability. Delayed sternal closure may be beneficial in this setting. The purpose of this study was to assess mortality and mediastinal infection rate associated with delayed sternal closure after congenital heart surgery and to evaluate the risk factors which affect mortality and mediastinal infection rate. Material and Method: We retrospectively reviewed 40 patients who underwent delayed sternal closure after repair of congenital heart disease at Yonsei Cardiovascular Hospital, from January 1994 to May 2001. In these patients, we assessed the mortality and mediastinal infection rate, and evaluated their risk factors including operation time, bypass time, aortic cross clamp time, duration to sternal closure and postoperative artificial ventilation time. Mediastinal infection was defined to have positive culture in mediastinum. Result: Hemodynamic instability was the most common indication for delayed sternal closure(n=36) and other indications included postoperative bleeding(n=2) and conduit compression(n=2). The median age at operation was $14.4{\pm}33.4$months old(range, 2days-12years). The patients with postoperative bleeding and conduit compression were much older than the others. The sternum was left open for $4.5{\pm}3.4$ days(range, 1-20days). Overall mortality was 25%(10/40) and mediastinal infection occured in 24.3%(9/37) (3 patients were excluded in mediastinal infection for early death). In risk factor analyses, only aortic cross clamp time had statistical significance for mortality in univariate analyses. However, multivariate analyses revealed that there were no significant predictors for risk of mortality and mediastinal infection. Conclusion: Delayed sternal closure after repair of congenital cardiac disease had relatively high mortality and mediastinal infection rate. But, in patients with hemodynamic instability, postoperative bleeding and conduit compression after repair of congenital cardiac disease, delayed sternal closure may be an effective life saving method.

• Journal of Chest Surgery
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• v.31 no.12
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• pp.1183-1194
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• 1998

Background: From Sept. 1985 to Sept. 1997, 2,000 cases of open heart surgery(OHS) were performed in the Department of Thoracic & Cardiovascular Surgery, Pusan Paik Hospital, College of Medicine, Inje University. Material and Method: Among the total of 2,000 cases of OHS, 1532 cases were congenital heart disease(CHD) and 468 cases were acquired heart disease(AHD). The age distribution was 9 days(4.0kg) to 68 years in CHD and 11 to 66 years in AHD. In 1532 cases of CHD, there were 1403 acyanotic cases and 129 cyanotic cases. Result: The CHD cases consisted of 940 ventricular septal defects(61.4%), 324 atrial septal defects(21.1%), 112 tetralogy of Fallot(7.3%), 46 pulmonary stenosis(3%), 38 endocardial cushion defects(2.5%), 15 valsalva sinus ruptures(1%), 4 transposition of great arteries (0.3%), 4 double outlet right ventricles(0.3%), and etc. Corrective operations were applied for congenital heart disease with a result of 3.1% hospital mortality. Of 468 AHD, 381 cases were valvular heart diseases, 48 ischemic heart diseases, 12 cardiac tumors, 8 annuloaortic ectasias, 16 dissecting aortic aneurysms and etc. In the 381 valvular heart diseases, there were 226 single valve replacements(36 aortic valve replacements(AVR), 188 mitral valve replacements(MVR), and 2 tricuspid valve replacements(TVR), among these were 71 cases of double valve replacements(AVR & MVR), 54 cases of MVR with tricuspid valve annuloplasty(TVA), and 18 cases of AVR, MVR with TVA. The total implanted prosthetic valves were 466. In MVR, 123 St. Jude Medical valves, 90 Carpentier-Edwards valves, 65 CarboMedics valves, 42 Sorin valves and 16 other valves were used. In AVR, 68 St. Jude Medical valves, 36 CarboMedics valves, 14 Carpentier-Edwards valves and 9 other valves were used. Coronary Artery Bypass Surgery(CABG) were performed in 48 cases. The patterns of bypass graft were 14 patients of single vessel graft, 21 patients of two vessels graft, 10 patients of three vessels graft and 3 patients of four vessels graft. Conclusion: The hospital operation mortality rate of congenital acyanotic, cyanotic and acquired heart diseases were 2.0%, 15.5%, and 5.1% respectively. The overall mortality rate was 3.6%(72/2,000).

• Environmental Analysis Health and Toxicology
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• v.31
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• pp.1.1-1.13
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• 2016

Objectives To investigate the accuracy and scientific validity of the current very low risk factor for hereditary diseases in humans following exposures to ionizing radiation adopted by the United Nations Scientific Committee on the Effects of Atomic Radiation and the International Commission on Radiological Protection. The value is based on experiments on mice due to reportedly absent effects in the Japanese atomic bomb (A-bomb) survivors. Methods To review the published evidence for heritable effects after ionising radiation exposures particularly, but not restricted to, populations exposed to contamination from the Chernobyl accident and from atmospheric nuclear test fallout. To make a compilation of findings about early deaths, congenital malformations, Down's syndrome, cancer and other genetic effects observed in humans after the exposure of the parents. To also examine more closely the evidence from the Japanese A-bomb epidemiology and discuss its scientific validity. Results Nearly all types of hereditary defects were found at doses as low as one to 10 mSv. We discuss the clash between the current risk model and these observations on the basis of biological mechanism and assumptions about linear relationships between dose and effect in neonatal and foetal epidemiology. The evidence supports a dose response relationship which is non-linear and is either biphasic or supralinear (hogs-back) and largely either saturates or falls above 10 mSv. Conclusions We conclude that the current risk model for heritable effects of radiation is unsafe. The dose response relationship is non-linear with the greatest effects at the lowest doses. Using Chernobyl data we derive an excess relative risk for all malformations of 1.0 per 10 mSv cumulative dose. The safety of the Japanese A-bomb epidemiology is argued to be both scientifically and philosophically questionable owing to errors in the choice of control groups, omission of internal exposure effects and assumptions about linear dose response.

• International Journal of Vascular Biomedical Engineering
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• v.2 no.1
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• pp.11-16
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• 2004

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.49 no.6
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• pp.421-426
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• 2016

Background: Median sternotomy is the standard approach for atrial septal defect (ASD) closure. However, minimally invasive cardiac surgery (MICS) has been introduced at many centers in adult/grown-up congenital heart patients. We retrospectively reviewed the results of right anterolateral thoracotomy compared with conventional median sternotomy (CMS) for ASD closure at Seoul National University Hospital. Methods: We retrospectively analyzed 60 adult patients who underwent isolated ASD closure from January 2004 to December 2013 (42 in the CMS group, 18 in the MICS group). Preoperative, operative, and postoperative data were collected and compared between the 2 groups. Results: The MICS group was younger (44.6 years vs. 32.4 years, p=0.002) and included more females (66.7% vs. 94.4%, p=0.025) than the CMS group. Operation time (188.4 minutes vs. 286.7 minutes, p<0.001), cardiopulmonary bypass time (72.7 minutes vs. 125.8 minutes, p<0.001), and aortic cross-clamp time (25.5 minutes vs. 45.6 minutes, p<0.001) were significantly longer in the MICS group. However, there were no significant differences in morbidity and mortality between groups. Only chest tube drainage in the first 24 hours (627.1 mL vs. 306.1 mL, p<0.001) exhibited a significant difference. Conclusion: MICS via right anterolateral thoracotomy is an alternative choice for ASD closure. The results demonstrated similar morbidity and mortality between groups, and favored MICS in chest tube drainage in the first 24 hours.

• Journal of Korean Neurosurgical Society
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• v.58 no.5
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• pp.454-461
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• 2015

Objective : In this study, we aimed to investigate the underlying ethiological factors in chiari malformation (CM) type-I (CMI) via performing volumetric and morphometric length-angle measurements. Methods : A total of 66 individuals [33 patients (20-65 years) with CMI and 33 control subjects] were included in this study. In sagittal MR images, tonsillar herniation length and concurrent anomalies were evaluated. Supratentorial, infratentorial, and total intracranial volumes were measured using Cavalieri method. Various cranial distances and angles were used to evaluate the platybasia and posterior cranial fossa (PCF) development. Results : Tonsillar herniation length was measured $9.09{\pm}3.39mm$ below foramen magnum in CM group. Tonsillar herniation/concurrent syringomyelia, concavity/defect of clivus, herniation of bulbus and fourth ventricle, basilar invagination and craniovertebral junction abnormality rates were 30.3, 27, 18, 2, 3, and 3 percent, respectively. Absence of cisterna magna was encountered in 87.9% of the patients. Total, IT and ST volumes and distance between Chamberlain line and tip of dens axis, Klaus index, clivus length, distance between internal occipital protuberance and opisthion were significantly decreased in patient group. Also in patient group, it was found that Welcher basal angle/Boogard angle increased and tentorial slope angle decreased. Conclusion : Mean cranial volume and length-angle measurement values significantly decreased and there was a congenital abnormality association in nearly 81.5 percent of the CM cases. As a result, it was concluded that CM ethiology can be attributed to multifactorial causes. Moreover, congenital defects can also give rise to this condition.

• Archives of Plastic Surgery
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• v.47 no.6
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• pp.551-558
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• 2020

Background Giant congenital melanocytic nevus (GCMN) is a rare disease, for which complete surgical resection is recommended. However, the size of the lesions presents problems for the management of the condition. The most popular approach is to use a tissue expander; however, single-stage expansion in reconstructive surgery for GCMN cannot always address the entire defect. Few reports have compared tissue expansion techniques. The present study compared single and serial expansion to analyze the risk factors for complications and the surgical outcomes of the two techniques. Methods We retrospectively reviewed the medical charts of patients who underwent tissue expander reconstruction between March 2011 and July 2019. Serial expansion was indicated in cases of anatomically obvious defects after the first expansion, limited skin expansion with two more expander insertions, or capsular contracture after removal of the first expander. Results Fifty-five patients (88 cases) were analyzed, of whom 31 underwent serial expansion. The number of expanders inserted was higher in the serial-expansion group (P<0.001). The back and lower extremities were the most common locations for single and serial expansion, respectively (P =0.043). Multivariate analysis showed that sex (odds ratio [OR], 0.257; P=0.015), expander size (OR, 1.016; P=0.015), and inflation volume (OR, 0.987; P=0.015) were risk factors for complications. Conclusions Serial expansion is a good option for GCMN management. We demonstrated that large-sized expanders and large inflation volumes can lead to complications, and therefore require risk-reducing strategies. Nonetheless, serial expansion with proper management is appropriate for certain patients and can provide aesthetically satisfactory outcomes.

• Tuberculosis and Respiratory Diseases
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• v.65 no.5
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• pp.430-434
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• 2008

Unilateral absence of the pulmonary artery (UAPA) is a rare congenital anomaly that occurs in association with other cardiovascular anomalies, such as tetralogy of Fallot or ventricular septal defects. On the other hand, it is less commonly found as an isolated finding without accompanying diseases. Isolated UAPA is a rare cause of hemoptysis, and massive hemoptysis has been reported to occur in approximately 18~20% of UAPA patients during their clinical course. Even if a lung resection is considered a treatment option to control life-threatening hemoptysis, the procedure is more difficult than an ordinary lung resection because of the excessive collateral vessels from the systemic circulation. We encountered an isolated UAPA occurring in a young male patient suffering from intermittent blood tinged sputum. To our knowledge, only a few cases of isolated UAPA have been reported in Korea. This case is expected to be a good example to help clinicians better understand isolated UAPA as an unusual cause of hemoptysis.