• 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.

• Archives of Reconstructive Microsurgery
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• v.3 no.1
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• pp.9-15
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• 1994

It is difficult to obtain a satisfactory bony union of large bone defect secondary to trauma, tumor resection, congenital pseudarthrosis of tibia and bony metaplasia following infection with conventional methods. Conventional nonvascularized autologous bone graft do not provide adequate large amounts of donor bone and usually undergo necrosis or nonunion due to lack of vascular nutrition. Currently, advanced in microsurgery have made it possible to provide a continuing circulation of blood in bone grafts so as to ensure viability. With the nutrient blood supply preserved, healing of the graft to the recipient bone is facilitated without the usual replacement of the graft by creeping substitution. Thus, the grafted bone is achieved more rapid stabilization without sacrificing viability. We reviewed 11 cases of vascularized fibular grafts which were performed from December 1982 to January 1993 and the following results were obtained: 1. Large bone defects with chronic osteomyelitis secondary to trauma were could be successfully treated by the vascularized fibular transfer. 2. In our experience, the vascularized fibular transfer was thought to be one of good methods of treatment for congenital pseudathrosis of tibia. 3. Complete tumor resection was followed by a free vascularized fibular transfer, resulting in good functional improvement, without local recurrence. Long bone defect secondary to bony dysplasia was could be reconstructed by the vascularized fibular transfer. 4. The transferred vascularized fibula had been hypertrophied with bony union during follow-up period and there was no resorption of the grafted fibula.

• Archives of Reconstructive Microsurgery
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• v.11 no.2
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• pp.146-152
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• 2002

As the defects of the penis caused by trauma, surgical amputation, or congenital abnormality give the patients both psychological trauma and functional impairment, reconstruction of the penis is mandatory. Radial forearm free flap is reliable one-stage procedure, which can reconstruct both the phallus and the urethra. Chang and Whang's adaptation of the "tube-in-a-tube" concept and its incorporation into a free flap design represented a major advance in microsurgical phallic construction. Biemer described a modification of the radial forearm flap design in which the neourethra was centered over the radial artery, but the phallic shaft was separated into two paraurethral swatches. The authors have performed one-stage penile reconstruction in two patients since 1998, using a radial forearm free flap. Our present design incorporates the original Biemer triple skin island and includes a fourth distal island for neoglans. One case was the amputation of the penis from felonious assault and the other case was the iatrogenic penile amputation from repetitive urologic surgery for congenital hypospadia. All patients showed aesthetically acceptable results and good tactile sensory recovery. Severe complications such as necrosis, fistula, or urethral stricture were not occurred. Biemer's method modified by the authors is reliable one-stage penile reconstruction providing good aesthetic and functional results.

• Journal of Genetic Medicine
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• v.13 no.2
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• pp.99-104
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• 2016

$Cant{\acute{u}}$ syndrome (CS, OMIM 239850) is a very rare autosomal dominantly inherited genetic disease characterized by congenital hypertrichosis, neonatal macrosomia, a distinct facial features such as macrocephaly, and cardiac defects. Since the first description by $Cant{\acute{u}}$ et al. in 1982, about 50 cases have been reported to date. Recently, two causative genes for CS has been found by using exome sequencing analyses: ABCC9 and KCNJ8. Most cases of clinically diagnosed CS have resulted from de novo mutations in ABCC9. In this study, we report three independent Korean children with CS resulting from de novo ABCC9 mutations. Our patients had common clinical findings such as congenital hypertrichosis, distinctive facial features. One of them showed severe pulmonary hypertension and hypertrophic cardiomyopathy, which require medical treatment. And, two patients had a history of patent ductus arteriosus. Although two of our patients had shown early motor developmental delay, it was gradually improved during follow-up periods. Although CS is quite rare, there are the concerns about development of various cardiac problems in the lifetime. Therefore, an accurate diagnosis followed by appropriate management and genetic counseling should be provided to CS patients.

• Journal of Chest Surgery
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• v.54 no.1
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• pp.45-52
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• 2021

Background: Atrial septal defect (ASD) is the most common congenital heart disease. However, the details of cardiac chamber remodeling after surgery are not well known, although this is an important issue that should be analyzed to understand long-term outcomes. Methods: Between November 2017 and January 2019, cardiac magnetic resonance imaging was performed preoperatively, at a 1-month postoperative follow-up, and at a 1-year postoperative follow-up. Cardiac chamber volume, valve regurgitation volume, and ejection fraction were measured as functions of time. Results: Thirteen patients (10 men and 3 women) were included. The median age at surgery was 51.4 years. The preoperative median ratio of flow in the pulmonary and systemic circulation was 2.3. The preoperative mean right ventricular (RV) end-diastolic volume index (EDVi) and RV end-systolic volume index (ESVi) had significantly decreased at the 1-month postoperative follow-up (p<0.001, p=0.001, respectively). The decrease in the RVEDVi (p=0.085) and RVESVi (p=0.023) continued until the postoperative 1-year follow-up, although the rate of decrease was slower. Tricuspid valve regurgitation had also decreased at the 1-month postoperative follow-up (p=0.022), and continued to decrease at a reduced rate (p=0.129). Although the RVEDVi and RVESVi improved after ASD closure, the RV volume parameters were still larger than the left ventricular (LV) volume parameters at the 1-year follow-up (RVEDVi vs. LVEDVi: p=0.016; RVESVi vs. LVESVi: p=0.001). Conclusion: Cardiac remodeling after ASD closure is common and mainly occurs in the early postoperative period. However, complete normalization does not occur.

• Journal of Chest Surgery
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• v.56 no.6
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• pp.394-402
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• 2023

Background: The optimal choice of valve substitute for aortic valve replacement (AVR) in pediatric patients remains a matter of debate. This study investigated the outcomes following AVR using mechanical prostheses in children. Methods: Forty-four patients younger than 15 years who underwent mechanical AVR from March 1990 through March 2023 were included. The outcomes of interest were death or transplantation, hemorrhagic or thromboembolic events, and reoperation after mechanical AVR. Adverse events included any death, transplant, aortic valve reoperation, and major thromboembolic or hemorrhagic event. Results: The median age and weight at AVR were 139 months and 32 kg, respectively. The median follow-up duration was 56 months. The most commonly used valve size was 21 mm (14 [31.8%]). There were 2 in-hospital deaths, 1 in-hospital transplant, and 1 late death. The overall survival rates at 1 and 10 years post-AVR were 92.9% and 90.0%, respectively. Aortic valve reoperation was required in 4 patients at a median of 70 months post-AVR. No major hemorrhagic or thromboembolic events occurred. The 5- and 10-year adverse event-free survival rates were 81.8% and 72.2%, respectively. In univariable analysis, younger age, longer cardiopulmonary bypass time, and smaller valve size were associated with adverse events. The cut-off values for age and prosthetic valve size to minimize the risk of adverse events were 71 months and 20 mm, respectively. Conclusion: Mechanical AVR could be performed safely in children. Younger age, longer cardiopulmonary bypass time and smaller valve size were associated with adverse events. Thromboembolic or hemorrhagic complications might rarely occur.

• Journal of Veterinary Clinics
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• v.27 no.6
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• pp.735-739
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• 2010

An 8 month old female Maltese (body weight 3.6 kg) was referred with primary complaints of dyspnea and exercise intolerance. Diagnostic imaging studies revealed marked cardiomegaly and prominent main pulmonary trunk dilation on thoracic radiography, abnormally arisen aortic roots (toward right ventricle) with left-to right shunted perimembraneous ventricular septal defect located underneath of aortic root, aortic root was located to predominantly to the right ventricle and pulmonary regurgitation (peak velocity 4.7 m/s, pressure gradient ~88 mmHg) from pulmonary over-circulation and hypertension on echocardiography, indicating double outlet right ventricle (DORV). The dog was treated with furosemide (1 mg/kg, BID) for reducing volume overload at right ventricle, spironolatcone (1 mg/kg) and enalapril (0.5 mg/kg) for minimizing deleterious cardiac remodeling, and sildenafil (1 mg/kg) for lessening pulmonary over-circulation and hypertension. The clinical condition of this dog was improved after 1 week of medical treatment. The dog is currently survived and regularly monitored.

• Journal of Chest Surgery
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• v.46 no.2
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• pp.93-97
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• 2013

Background: Minimally invasive cardiac surgery has emerged as an alternative to conventional open surgery. This report reviews our experience with atrial septal defect using the da VinciTM surgical robot system. Materials and Methods: This retrospective study included 50 consecutive patients who underwent atrial septal defect repair using the da VinciTM surgical robot system between October 2007 and May 2011. Among these, 13 patients (26%) were approached through a totally endoscopic approach and the others by mini-thoracotomy. Nineteen patients had concomitant procedures including tricuspid annuloplasty (n=10), mitral valvuloplasty (n=9), and maze procedure (n=4). The mean follow-up duration was $16.9{\pm}10.4$ months. Results: No remnant interatrial shunt was detected by intraoperative or postoperative echocardiography. The atrial septal defects were mainly repaired by Gore-Tex patch closure (80%). There was no operative mortality or serious surgical complications. The aortic cross clamping time and cardiopulmonary bypass time were $74.1{\pm}32.2$ and $157.6{\pm}49.7$ minutes, respectively. The postoperative hospital stay was $5.5{\pm}3.3$ days. Conclusion: The atrial septal defect repair with concomitant procedures like mitral valve repair or tricuspid valve repair using the da VinciTM system is a feasible method. In addition, in selected patients, complete port access can be helpful for better cosmetic results and less musculoskeletal injury.

• Clinical and Experimental Pediatrics
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• v.48 no.6
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• pp.665-668
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• 2005

"Rickets" is the term applied to impaired mineralization at epiphyseal growth plate, resulting in deformity and impaired linear growth of long bones. Rickets may arise as a result of vitamin D deficiency or abnormality in metabolism. Vitamin D-dependent rickets(VDDR) is rare autosomal recessive disorder in which affected individuals have clinical features of vitamin D deficiency. In 1961, Prader first described this disorder including severe clinical features of rickets, such as hypophosphatemia, hypocalcemia, muscle weakness and seizure. Two distinctive hereditary defects, type I VDDR and type II VDDR have been recognized in vitamin D metabolism. Type I VDDR may be due to congenital defects of renal 1 ${\alpha}$-hydroxylase, the enzyme responsible for conversion of $25(OH)D_3$. These patients have low to detectable $1,25(OH)_2D_3$ in presence of normal to raised $25(OH)D_3$. In type II VDDR, renal production of $1,25(OH)_2D_3$ is intact but $1,25(OH)_2D_3$ is not used effectively and target organ resistant to $1,25(OH)_2D_3$ is respectively derived from the abnormality in the vitamin D receptor. We report a case of a 25 month-old girl with typical clinical features of VDDR type I rickets, hypocalcemia, increased alkaline phosphatase and secondary hyperparathyroidism.

• Clinical and Experimental Pediatrics
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• v.64 no.4
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• pp.141-148
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• 2021

There are very scant data on the epidemiology of primary immunodeficiency diseases (PIDs) in Korea. Here we attempted to estimate the PID epidemiology and disease burden in Korea. A systematic review was performed of studies retrieved from the PubMed, KoreaMed, and Google Scholar databases. Studies on PIDs published in Korean or English between January 2001 and November 2018 were analyzed. The number of PID patients and the healthcare costs were estimated from Health Insurance Review and Assessment Service (HIRA) Korea data for 2017. A total of 398 PID patients were identified from 101 reports. Immunodeficiencies affecting cellular and humoral immunity were reported in 11 patients, combined immunodeficiency with associated or syndromic features in 40, predominantly antibody deficiencies in 144, diseases of immune dysregulation in 58, congenital defects of phagocytes in 104, defects in the intrinsic and innate immunity in 1, auto-inflammatory disorders in 4, complement deficiencies in 36, and phenocopies of PID in none. From the HIRA reimbursement data, a total of 1,162 outpatients and 306 inpatients were treated for 8,166 and 6,149 days, respectively. In addition, reimbursement was requested for 8,200 outpatient and 1,090 inpatient cases and $1,924,000 and $4,715,000 were reimbursed in 2017, respectively. This study systematically reviewed published studies on PID and analyzed the national open data system of the HIRA to estimate the disease burden of PID, for the first time in Korea.