• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.3
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• pp.148-154
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• 2016

A urea cycle disorder is a condition caused by a defect of the enzymes in the urea cycle, and deficiency of ornithine transcarbamylase (OTC), which converts carbamoyl phosphate and ornithine into citrulline, is the most common type of the disorder. OTC deficiency induces the accumulation of precursors of urea, ammonia, and glutamine, leading to neurological symptoms including hypotonia, respiratory failure, seizure, lethargy, and coma and sometimes to death. Because OTC deficiency is inherited in an X-linked manner, typical symptoms such as vomiting, poor feeding, and lethargy appear mainly in male neonates. We recently had a case that presented with neonatal onset lethargy, vomiting, and apnea in a 4-day-old boy. He was diagnosed with OTC deficiency by biochemical phenotype, including hyperammonemia and an increased orotic acid level in the urine. Genetic analysis of the OTC gene showed a novel mutation c.780_781insCAGGCAGTGT (p.Ile261Glnfs*35). He was treated for hyperammonemia using continuous venovenous hemofiltration (CVVH) at 118 hours after birth. After 4 days of CVVH, his consciousness and blood ammonia concentration were normalized, and he was discharged at the age of 53 days. At around 12 months of age, bilateral femur fractures and osteomyelitis occurred in this patient. Two months after the fracture, he died of septic shock, insulin-resistant hyperglycemia, and multi-organ failure.

• Journal of Korean Physical Therapy Science
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• v.19 no.4
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• pp.47-52
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• 2012

Purpose : The purpose of the study was to examine if a respiratory muscle strengthening training in patients with stroke can improve their pulmonary function. Methods : Volunteers were included for the study if a patient diagnosed stroke more than 6 months and had 24 points or higher in MMSE-K scores. Twenty-eight subjects participated in this study and were randomly divided into two groups; a breathing exercise group(n=14) and a control group(n=14). The intervention for all subjects was conducted for 20minutes, three times a week for 4 weeks. Subjects for the breathing exercise group had the respiratory muscle strengthening training using spiro-tigers, where-as subjects in the control group got their usual treatment ie a postural training. The six-minute walking test(6MWT) and the pulmonary function tests(FVC, $FEV_1$, $FEV_1$/FVC, VC, Vt, IRV and ERV) were employed to assess treatment effects at baseline and after their intervention. Results : Twenty-four subjects finished their 4-week treatment programs. The general characteristics between groups were found to be similar (p>0.05). The pulmonary function between groups were also observed no difference across groups at the baseline measurement (p>0.05). In the post treatment group comparison, subjects in the breathing exercise group showed an increase in lung function with VC ($2.73{\pm}0.80{\ell}$) and Vt ($0.87{\pm}0.38{\ell}$) than those in the control group ($1.91{\pm}0.80{\ell}$ and $0.48{\pm}0.22{\ell}$ respectively) (p<0.05). However, there was no difference found in 6MWT, FVC, $FEV_1$, $FEV_1$/FVC, IRV, and ERV across groups (p>0.05). Conclusion : A significant increase in VC and Vt was found in subjects with stroke, who had four-week training on respiratory muscle strengthening. However, respiratory muscle strengthening showed no effect on walking speed and FVC, $FEV_1$, $FEV_1$/FVC, IRV, and ERV in patients with stroke.

• Tuberculosis and Respiratory Diseases
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• v.48 no.3
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• pp.383-387
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• 2000

Fat embolism syndrome is a rare but serious complication occurring mostly in patients with long bone fractures and occasionally in patients who have had an underlying disease. For example, pancreatitis, diabetes mellitus, alcoholic liver disease and connective tissue disease can be risk factors. The 44-year old woman with a sudden dry cough, blood tinged sputum, and exertional dyspnea visited the Korea University Hospital. Petechiae on her anterior chest wall was found. Chest X-ray and CT showed patchy opacities and multifocal ground-glass opacities in both lung fields. An open lung biopsy demonstrated diffuse pulmonary hemorrhage and intravascular macrovesicular fat bubbles. After conservative management, her symptoms and radiologic findings were significantly improved. A case of fat embolism syndrome without any known risk factors is reported.

• Tuberculosis and Respiratory Diseases
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• v.60 no.1
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• pp.49-56
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• 2006

배경 : 급성 폐손상은 폐내, 외의 원인질환들에 의해 폐포-모세혈관의 투과성이 증가하며, 폐부종에 의해 급성 저산소성 호흡곤란이 유발되는 증후군이다. 헤파린은 항응고작용 외에 자체적으로 항염증효과를 가지고 있으나, 염증성질환에 헤파린을 투여하면 출혈성 합병증이 발생하기 때문에 실제로 임상에서 이용하는데 제약이 있다. 하지만 헤파린에서 2-O와 3-O sulfate를 제거하면, 항응고 효과가 제거되고 항염증효과는 지니고 있는 비항응고성 헤파린 (nonanticoagulant heparin)으로 변화한다. 본 연구에서는 흰쥐에게 내독소 (LPS)를 투여하거나, 출혈성 쇼크를 일으켜서 유발된 급성폐손상에서 비항응고성 헤파린의 치료효과를 살펴보았다. 방법 : 각 군당 5 마리 이상의 흰쥐 (Balb/c mouse)를 이용하였다. 미정맥 (tail vein)을 통해 생리식염수 또는 비항응고성 헤파린 (50 mg/kg)을 투여한 직후에 내독소를 복강으로 투여하거나 (1 mg/kg), 심장천자를 통해 총 혈액의 1/3 정도로 제거하여 출혈성 쇼크를 유도하여 급성폐손상을 유발하였다. 내독소 투여 또는 출혈성 쇼크 유발 1 시간 후에 흰쥐를 희생시키고 폐를 적출하였고, 폐의 염증성 변화는 사이토카인 ($TNF-{\alpha}$, MIP-2, $IL-1{\beta}$)을 측정하여 살펴보았고, 폐손상의 정도는 myeloperoxidase (MPO) assay와 wet-to-dry weight ratio를 측정하여 알아보았다. 결 과 : 내독소를 투여한 흰쥐의 폐에서 대조군의 폐에 비해 사이토카인의 발현이 증가하고 ($TNF-{\alpha}$; $196.1{\pm}10.8$ vs $83.7{\pm}18.4pg/ml$, MIP-2; $3,000{\pm}725$ vs $187{\pm}26pg/ml$, $IL-1{\beta}$; $6,500{\pm}1167$ vs $266{\pm}25pg/ml$, p<0.05, respectively), 폐의 MPO 활성이 증가하였다 ($27.9{\pm}6.2$ vs $10.5{\pm}2.3U/g$ of lung protein, p<0.05). 출혈성 쇼크를 일으킨 흰쥐의 폐에서 대조군의 폐에 비해 사이토카인의 발현은 증가되지 않았으나, MPO 발현은 증가되었다 ($16.5{\pm}3.2$ vs $10.5{\pm}2.3U/g$ of lung protein, p<0.05). 내독소 투여 또는 출혈성 쇼크에 의해 급성폐손상이 유발된 흰쥐에서 생리적 식염수를 투여하거나 비항응고성 헤파린을 투여한 군 사이에 사이토카인의 발현이나 MPO 활성에 의미있는 차이는 관찰되지 않았다. 결론 : 이상의 결과로 비항응고성 헤파린은 내독소를 투여하거나 출혈성 쇼크를 일으키고 한 시간 뒤에 측정한 흰쥐의 급성폐손상에서 의미있는 치료효과를 보이지 않았다.

• Journal of Chest Surgery
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• v.35 no.3
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• pp.231-234
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• 2002

Moyamoya disease is an unusual cerebrovascular disorder characterized by occlusive intimal dysplasia of the distal internal carotid and proximal cerebral arteries as well as other collateral arteries. However, moyamoya diseases are recently being reported as a systemic process. We experienced one case of coronary artery occlusive disease affected by moyamoya disease. The patient was a 35-year-old female, experiencing intermittent NYHA class ll dyspnea and exertional chest pain for 6 months and right paresthesia for 1 month before admission. Cerebral artery angiogram showed abnormal cerebrovascular systems and confirmed moyamoya disease with cerebral infarction of the left frontal lobe. In coronary artery angiogram, left coronary artery was not visualized due to total occlusion of the left main ostium and left coronary blood flow was supplied from normal right coronary artery. CABG was performed with OPCAB. Both internal mammary arteries were used for LAD and LCx. Intraoperative coronary artery findings showed intimal hyperplasia and no definite thrombi, and nondiseased coronary arteries were good and patent. We concluded that this patient's coronary artery disease was affected by moyamoya disease, and moyamoya disease should be evaluated in the extracerebral cardiovascular system.

• Physical Therapy Korea
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• v.24 no.2
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• pp.27-36
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• 2017

Background: Research efforts to improve the pulmonary function of people with limited chest function have focused on the diaphragmatic ability to control breathing pattern. Real-time ultrasonography is appropriate to demonstrate diaphragmatic mechanism during breathing. Objective: The purpose of this study was to investigate the effects of diaphragmatic breathing training using real-time ultrasonographic imaging (RUSI) on the chest function of young females with limited chest mobility. Methods: Twenty-six subjects with limited chest mobility were randomly allocated to the experimental group (EG) and control group (CG) depending on the use of RUSI during diaphragmatic breathing training, with 13 subjects in each group. For both groups, diaphragmatic breathing training was performed for 30-min, including three 10-min sets with a 1-min rest interval. An extra option for the EG was the use of the RUSI during the training. Outcome measures comprised the diaphragmatic excursion range during quiet and deep breathing, pulmonary function (forced vital capacity; FVC, forced expiratory volume in 1-sec; FEV1, tidal volume; TV, and maximal voluntary ventilation; MVV), and chest circumferences at upper, middle, and lower levels. Results: The between-group comparison revealed that the diaphragmatic excursion range during deep breathing, FVC, and middle and lower chest circumferences were greater at post-test and that the changes between the pretest and post-test values were greater in the EG than in the CG (p<.05). In addition, the subjects in the EG showed increased post-test values for all the variables compared with the pretest values, except for TV and MVV (p<.05). In contrast, the subjects in the CG showed significant improvements for the diaphragmatic excursion range during quiet and deep breathings, FVC, FEV1, and middle and lower chest circumferences after the intervention (p<.05). Conclusion: These results indicate that using RUSI during diaphragmatic breathing training might be more beneficial for people with limited chest mobility than when diaphragmatic breathing training is used alone.

• Tuberculosis and Respiratory Diseases
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• v.47 no.3
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• pp.383-388
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• 1999

Background: Tracheal hamartoma is a very rare cause of upper airway obstruction. Its clinical features can mimic medical conditions, such as bronchial asthma, chronic bronchitis, and so on. Case; This report presents the case of a 65 year old man whose major symptom was dyspnea. We found a tumor in his distal tracheal lumen, and the tumor was removed with success using rigid bronchoscope. The tumor was histologically proven to be a hamartoma, and his symptoms were much improved. Conclusion: It is important to distinguish it from other conditions because medical management is often not helpful. Surgical correction-with or without thoracotomy-is inevitable.

• Journal of Chest Surgery
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• v.37 no.5
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• pp.432-437
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• 2004

Background : Solitary fibrous tumors of the pleura (SFTP) is one of rare neoplasms that originated from submesothelial mesenchyme. Clinical course or extent of surgical resection is not well known. Material and Method: We retrospectively reviewed all the clinical records of the patients who had undergone surgical resection of benign and malignant SFTP, Result: Twenty two (male female 14 : 8) patients were enrolled and mean age was 50.2(range 25∼83). Number of symptomatic patients at the time of diagnosis was 13 (59%) and the most common symptom was dyspnea. Operative approach was carried out through thoracotomy (n=14) or video-assisted thoracic surgery (n=8). Mass excision was performed in 12 cases and en bloc resection including adjacent structure in 10 cases. In all cases complete resection was performed. There was no operative mortality. Malignant SFTP were 11 cases and benign SFTP 11 cases. Local recurrences (n=2) or distant metastasis (n=6) occurred only in malignant SFTP. Conclusion: Number of symptomatic patients, on bloc resection, and recurrence was more in malignant SFTP. Although complete surgical resection is known as treatment of choice for SFTP, further study should be performed about systemic therapeutic modalities pre- or postoperatively to control recurrence and metastasis.

• Journal of Chest Surgery
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• v.31 no.5
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• pp.481-487
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• 1998

The surgical management of acute type B dissection is controversial. The complexity of the repair usually requires a period of aortic cross-clamping exceeding 30 minutes, which can cause ischemic injury of the spinal cord. Several forms of distal perfusion have been considered for use to prevent this injury. To determine the safety and efficacy of a graft replacement with cardiopulmonary bypass in reparing acute dissection of descending thoracic aorta, we retrospectively reviewed our surgical experience treating 8 patients who had aortic dissection secondary to atherosclerosis, trauma, and carcinoma invasion. Cardiopulmonary bypass was performed with two aortic cannulas for simultaneous perfusion of the upper and lower body and one venous cannula for draining venous blood from the right atrium or inferior vena cava. Although aortic cross-clamp time was relatively long (average, 117.8 minutes; range, 47 to 180 minutes) in all cases, there was no neurologic deficit immediately after graft replacement for the aortic lesion. Two patients(25%) of relatively old age died on the postoperative 31st and 41st days, respectively, because of delayed postoperative complications, such as pulmonary abscess and adult respiratory distress syndrome. Although any of several maneuvers may be appropriate in managing dissection of the descending aorta, graft replacement with cardiopulmonary bypass during aortic cross-clamping may be a safe and effective method for the treatment of acute dissection of the descending thoracic aorta.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.15 no.1
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• pp.79-83
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• 2019

Treacher Collins syndrome(TCS) is an autosomal craniofacial development disorder which results from mutations in the gene TCOF1. Major features include midface hypoplasia, micrognathia, microtia, conductive hearing loss. Oral manifestations are characterized by cleft palate, shortened soft palate, malocclusion, anterior open bite and enamel hypoplasia. The purpose of this presentation is to describe the interesting aspects of dental treatment of a patient with TCS. A 6-year-old boy with TCS visited Seoul National University Dental Hospital for dental caries. Multiple caries was observed from clinical and radiographic examination. Because of multiple caries and behavior management ploblem, dental treatment under general anesthesia was planned. Treatment of posterior teeth was performed and some primary teeth were extracted. General anesthesia was induced and maintained with sevoflurane, nitrous oxide and oxygen. Under general anesthesia, successful dental procedure was done. Considering behavior management problem and medical condition of patient with TCS, general anesthesia can be useful.