• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.1
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• pp.24-30
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• 2017

Gorham-Stout disease is a rare disorder characterized by lymphovascular proliferation and destruction of osseous matrix. The etiology of this condition remains poorly understood. Chylothorax as a consequence of lymphatic leakage in thoracic cage may cause a severe life-threatening complication, accompanying respiratory difficulty. Currently, there is no standard management for this extremely rare condition. Here we describe a patient affected by Gorham-Stout disease successfully managed by the combined treatment of mTOR inhibitor and beta-blocker. A previously healthy 11-year-old female developed dyspnea and chest pain with a massive pleural effusion. The ligation of right thoracic duct and bilateral pleurodesis temporarily decreased her pleural effusion, which was aggravated repetitively and required frequent admission and tube thoracotomies. Along with bilateral pleural adhesiolysis with thoracotomy, the combined treatment of oral beta-blocker and mTOR inhibitor was commenced. After 1 month of oral medication, her pleural effusion was not increased and she was free of respiratory difficulty on room air without chest tubes. Over eleven months of treatment, no serious adverse reaction was noted and her condition has been stable with no further admission required.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.18-24
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• 2015

Glycogen storage disease type Ib (GSD Ib) is one of the rare inherited metabolic disease caused by mutation of SLC37A4 gene. Clinical characteristics include hepatomegaly, hypoglycemia, lactic acidosis, hyperlipidemia and high serum uric acid concentration. The authors analyzed clinical and molecular characteristics of three Korean patients (one male and two females) with GSD Ib by retrospective review of medical records. Two patients were diagnosed in toddler period by hypoglycemia and hepatomegaly. One patient was diagnosed by growth retardation and short stature in puberty. c.412T>C (p.Trp138Arg) (3/6 alleles, 50.0%) was most frequently observed, following by p.Leu348Valfs*53 (1 allele), p.Pro191Leu (1 allele), p.Ala148Val (1 allele) in molecular analysis. Uncooked corn starch and allopurinol was administered. Because all three patients had neutropenia and recurrent infections, G-CSF was administered. Two patients had severe osteoporosis needing calcium supplement. The patient who diagnosed at puberty had relatively poor prognosis demonstrated by having severe infection and complications in liver and kidney.

• Phonetics and Speech Sciences
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• v.11 no.4
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• pp.109-116
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• 2019

This study was conducted to identify the characteristics of pauses and breath groups made by normal adults and patients with voice disorders while reading a paragraph. Forty normal female adults and forty female patients with a functional voice disorder (18-45 yrs.) read the "Gaeul" paragraph with the "Running Speech" protocol of the Phonatory Aerodynamic System (PAS), by which the pauses with or without inspiration and between or within syntactic words and breath groups were analyzed. The number of pauses with inspiration was found to be higher in the patient group, but the number of pauses without inspiration was higher in the normal group. The rate of syntactic word boundaries with pauses with inspiration was higher in the patient group, while the number of syllables per breath group was higher in the normal group. As these results can be explained by patients' poor breath support due to glottal insufficiency, the question of whether voice disorder patients use their pauses and breath groups properly should be considered carefully in evaluation and intervention.

• Journal of Chest Surgery
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• v.40 no.1 s.270
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• pp.79-82
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• 2007

Tracheobronchial rupture due to blunt chest trauma is an uncommon injury although the incidence is increasing. Early diagnosis and primary repair of tracheobronchial rupture not only restore a normal lung function but also avoid the difficulties and complications associated with delayed diagnosis and repair We present one case of the tracheal transsection caused by traffic accident. Patient suffered from progressive dyspnea, subcutaneous emphysema on the neck and anterior chest wall and tension pneumothorax at both sides were noted. Although both closed thoracostomy were done, massive air leakage through the chest tube continued and subcutaneous emphysema spread to the anterior abdominal wall and scrotum and the degree of dyspnea aggravated. With the impression of tracheobronchial injury, we performed the emergency operation. Preoperative bronchoscopy at the operation room was proceeded, which revealed the trachea was near totally transsected in transverse direction. Operation was performed through collar incisiion on the anterior neck, and the trachea was anastomosed with 4-0 $Vicryl^{(R)}$ interruptedly. Postoperative course were uneventful and patient discharged without any complications.

• Journal of Chest Surgery
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• v.32 no.3
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• pp.255-261
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• 1999

Background: Atrial fibrillation is one of the most prevalent of all arrhythmias and in up to 79% of the patients with mitral valve disease. This study examined whether the atrial fibrillation that occur in patients with mitral valve operation could be eliminated by a concommitant maze operation without cryoablation. Material and Method: From May 1997 to April 1998, 14 patients with atrial fibrillation associated with mitral valve disease underwent Maze III operation without cryoablation. Preoperatively there were 6 men and 8 women with an average age of 46.2${\pm}$10.7 years. Eleven patients had mitral stenosis, and three had mitral insufficiency. The associated heart diseases were aortic valve disease in 4, tricuspid valve regurgitation in 1 and ASD in 2. Using transthoracic echocardiography, the mean left atrial diameters was 54.7${\pm}$5.3 mm and thrombi were found in the left atrium of 2 patients. Postoperatively the ratio between the peak speed of the early filling wave and that of the atrial contraction wave (A/E ratio) was determined from transmitral flow measurement. Operations were mitral valve replacement in 13 including 4 aortic valve replacements, 1 DeVega annuloplasty and 2 ASD closures. Maze III operation was performed in 1 patient. Result: Five patients (38%) had recurred atrial fibrillation, which was reversed with flecainide or amiodarone at the average time of postoperative 38.8${\pm}$23.5 days. Postoperative complications were postoperative transient junctional rhythm in 6, transient atrial fibrillation in 5, reoperation for bleeding in 3, postpericardiotomy syndrome(1), unilateral vocal cord palsy(1), postoperative psychosis(1), and myocardial infarction(1). Postoperatively A/E ratio was 0.43${\pm}$0.22 and A wave found in 9(64%) patients. 3 to 14 months postoperatively (average follow- up, 8.1 months), all of patients had normal sinus rhythm and 9(64%) patients had left atrial contraction and 11(79%) patients were not on a regimen of antiarrhythmic medication. Conclusion: We conclude that Maze III operation without cryoablation is an effective surgical treatment in atrial fibrillation associated with the mitral valve disease.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.24-33
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• 2016

Mucopolysaccharidosis type VI (MPS VI) is a rare disease caused by the mutation of ARSB with prevalence range from 1/5,000 in northeast Brazil to 1/2,057,529 births in Czech Republic. In Asia, there is only one published figure in Taiwan of about 1/833,000 births. The exact prevalence in the Korean population is unknown, but we estimated the incidence of MPS VI is about 0.03/100,000 live births. Enzyme replacement therapy (ERT) with recombinant human Arylsulfatase B (rhASB) is a modality for the treatment of MPS VI that reduces the excretion of urine glycosaminoglycan (GAG) and improves joint motion, pulmonary function, and endurance. We presented the clinical features, molecular analysis and outcome of ERT in three Korean MPS VI patients. All patients had the typical characteristic clinical features of MPS IV. Short stature, dysostosis multiplex, corneal opacity and valvular heart disease were found at first presentation, while restrictive lung disease and carpal tunnel syndrome developed later in all patients. Molecular analysis demonstrated novel missense and nonsense mutation in the patients, including p.Ile 67Ser, p.Gly328Arg, $p.Arg191^*$, p.Asp352Asn, and p.Gly17Asp. After ERT, urine GAG was decreased in all patients. Skeletal involvement, corneal opacity, heart valve abnormalities and pulmonary function were not improved with ERT, but it had a better outcome on regarding joint motion and endurance. One patient underwent allogeneic bone marrow transplantation (BMT) prior to ERT, but their clinical response was not improved much after BMT. This study demonstrates clinical phenotypes and molecular analysis of the severe form of MPS VI in Korean patients.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.62-67
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• 2018

Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.15-21
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• 2021

Purpose: Urea cycle disorder (UCD) is an inherited inborn error of metabolism, acting on each step of urea cycle that cause various phenotypes. The purpose of the study was to investigate the long-term clinical consequences in different groups of UCD to characterize it. Methods: Twenty-two patients with UCD genetically confirmed were enrolled at Pusan National University Children's hospital and reviewed clinical features, biochemical and genetic features retrospectively. Results: UCD diagnosed in the present study included ornithine transcarbamylase deficiency (OTCD) (n=10, 45.5%), argininosuccinate synthase 1 deficiency (ASSD) (n=6, 27.3%), carbamoyl-phosphate synthetase 1 deficiency (CPS1D) (n=3, 13.6%), hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) (n=2, 9.1%), and arginase-1 deficiency (ARG1D) (n=1, 4.5%). The age at the diagnosis was 32.7±66.2 months old (range 0.1 to 228.0 months). Eight (36.4%) patients with UCD displayed short stature. Neurologic sequelae were observed in eleven (50%) patients with UCD. Molecular analysis identified 37 different mutation types (14 missense, 6 nonsense, 6 deletion, 6 splicing, 3 delins, 1 insertion, and 1 duplication) including 14 novel variants. Progressive growth impairment and poor neurological outcomes were associated with plasma isoleucine and leucine concentrations, respectively. Conclusion: Although combinations of treatments such as nutritional restriction of proteins and use of alternative pathways for discarding excessive nitrogen are extensively employed, the prognosis of UCD remains unsatisfactory. Prospective clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth or neurological outcomes and decrease metabolic crisis episodes in patients with UCD.

• Clinical and Experimental Pediatrics
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• v.52 no.4
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• pp.429-434
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• 2009

Purpose : Severe aspiration of the amniotic fluid is known to cause fatal respiratory distress in neonates. We conducted this study to investigate the clinical findings of severe amniotic fluid aspiration pneumonia (AFAP) in neonates and the effect of pulmonary surfactant replacement therapy (SRT). Methods : Retrospective analysis of medical records was conducted on 28 patients who received ventilator care due to severe AFAP in a neonatal intensive care unit over a 7-year period (2000-2006). Patients whose amniotic fluid was contaminated with meconium were excluded. Results : A large number of cases were term infants (82.1%) and infants born by caesarean section (85.7%), and the 1- and 5-min Apgar scores of these patients were $6.5{\pm}1.2$ and $7.5{\pm}1.3$, respectively. Soon after birth, the amount of amniotic fluid sucked out from airway below the vocal cord was $16.0{\pm}10.1$ mL. All patients received SRT with a modified bovine-derived surfactant (120 mg/kg/dose), and one dose was administered in most cases (75%). Compared with pre-SRT, the oxygenation index ($8.0{\pm}9.6$ vs. $18.9{\pm}7.3$) according to ventilator care was a significant improvement at 12 h after SRT (P<0.001). Furthermore, most cases showed radiological improvement for aeration at 12 h post-treatment. Many cases (46.4%) had cardiorespiratory complications, but their final outcomes were excellent (survival rate, 96.4%). Conclusion : AFAP may be an important cause of serious respiratory distress in near-term and term infants, and SRT seems to be an effective adjuvant therapy in mechanically ventilated neonates with severe AFAP.

• Journal of Chest Surgery
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• v.36 no.1
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• pp.15-20
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• 2003

Myasthenia gravis is a rare autoimmune disease involving acetylcholine receptor and its autoantibody on neuromuscular junction. The methods of treatment are medical treatment and surgical thymectomy. In this paper we analyzed the result of thymectomy and the factors affecting the postoperative symptom improvement. Material and method : This study obtained medical records of 37 patients who received the thymectomy for myasthenia gravis from March 1986 to December 1998. Result Out of 37 cases, 21 cases(57%) showed improvement, of which 8 cases (50%) in the group of thymoma(n=16), and 13 cases (62%) in the group of thymic hyperplasia(n=21) showed the improvement of symptoms. Postoperative complications were respiratory insufficiency due to aggravation of symptoms after operation, including tracheal intubation for ventilator support in 9 cases, pneumonia in 3 cases, pneumothorax in 2 cases and left vocal cord palsy in 1 case. There was one postoperative mortality. The relation between postoperative improvement and sex(P=0.3222), age(P=0.7642), thymic pathologic variants,(P=0.4335) and classification of thymoma(P=0.20) showed no statistically significant correlation. However, the lower grade of preoperative symptoms can predict the lower grade of postoperative symptoms significantly(P=0.0032). Follow up study to 36 postoperative survivors was performed in October 2002 based on the out-patient records and call with patients. Out of 36 cases, 33 cases(91.7%) could be investigated and 3 cases could not. Mean follow up period was 83.2 months. Out of 33 cases, 25 cases(75.8%) showed symptomatic improvement, of which 8 cases(53.3%) in the group of thymoma(n=15) and 17 cases(94.4%) in the group of thymic hyperplasia(n=18) showed the improvement of$\boxUl$ symptoms. Conclusion : In myasthenia gravis, thymectomy showed the good improvement, and more important factor affecting the improvement of symptoms was the grdae of preoperative symptoms. Also midterm and long term follow up results showed good symptomatic improvement.