• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.102-108
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• 2016

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome is one of mitochondrial encephalopathy. As the early clinical manifestations can be variable, it is important to suspect the disease, especially in patients with multiple organ dysfunctions. A boy was diagnosed with epilepsy when he was 9 years old. Two years later, severe headache and blurred vision developed suddenly. On examination, left homonymous hemianopsia was detected with corresponding cerebral parenchymal lesions in right temporo-occipito-parietal areas. MELAS syndrome was confirmed by genetic test, which showed m.3243 A>G mitochondrial DNA mutation. Multivitamins including coenzyme Q10 were added to anticonvulsant. He experienced 4 more events of stroke-like episodes over 5 years, but he is able to perform normal daily activities. A 13-year-old boy was brought to the hospital due to suddenly developed respiratory arrest and asystole associated with pneumonia. Past medical history revealed that he had multiple medical problems such as epilepsy, failure-to-thrive, optic atrophy, and deafness. He has been on valproic acid as an anticonvulsant which was prescribed from local clinic. He recovered after the resuscitation, but his cognition and motor function were severely damaged. He became bed-ridden. He was diagnosed with MELAS syndrome by brain MRI, muscle biopsy, and clinical features. Genetic test did not reveal any mitochondrial gene mutation. Four years later, he expired due to suddenly developed severe metabolic acidosis combined with hyperglycemic hyperosmolar nonketotic coma. The clinical features of MELAS syndrome are variable. Early diagnosis before the presentation to the grave clinical course may be important for the better clinical outcome.

• Tuberculosis and Respiratory Diseases
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• v.41 no.5
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• pp.521-530
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• 1994

Background : The past studies on prediction formulas of pulmonary function parameters in healthy nonsmoking Korean adults have been performed in relatively small number of subjects and the reported results were restricted on a few parameters. Also there was no systematic investigation into the effect of smoking on pulmonary function parameters in smokers who have no respiratory symptoms. Therefore we attempted to establish prediction formulas of pulmonary function parameters and examined the effect of smoking on pulmonary function parameters. Methods We analyzed the result of parameters derived from the forced expiratory spirogram in 1,067 nonsmoking subjects from June in 1990 to December in 1991. They consisted of 306 males and 761 females and had neither respitatory symptoms nor history of respiratory disease. We derived prediction formulas by multiple linear regression method from their age, heights, and weights in each sex. To examine the effect of smoking on pulmonary function parameters, we classified 383 smoking men into three groups according to the past amount of smoking as follows : i.e. group of smokers who have smoked below 10 pack-years, 10-20 pack-years and above 20 pack-years. Regarding each group of past smoking as an independent dummy variable, we analyzed pulmonary function parameters including nonsmoking men as a baseline by multiple linear regression. We evaluated the smoking effect on pulmonary function parameters according to estimated p-value. Result : 1) Prediction formulas for pulmonary function parameters in each sex were derived. 2) The past smoking less than 10 pack-years does not give any effect on pulmonary function parameters. The past smoking of 10~20 pack-years showed significant negative correlation with $FEV_1$/FVC and FEF 25~75%, and the smoking above 20 pack years showed negative correlation with $FEV_1$ and $FEV_1$/FVC. Conclusion : We have got prediction formulas of pulmonary function parameters which is driven from forced expiratory spirogram in nonsmoking Korean adults by multiple linear regression from age, heights and weights of subjects. The past smoking more than 10 pack-years showed negative correlation with some pulmonary function parameters of airflow obstruction.

• Tuberculosis and Respiratory Diseases
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• v.46 no.4
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• pp.548-554
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• 1999

Background : Asthma is the most common respiratory crisis encountered in clinical practice, occurring in up to 4% of all pregnancies. Pregnancy often appears to alter the course of asthma. But the mechanisms responsible for variable changes in the asthma course during pregnancy remain unknown. Poor control and exacerbations of asthma during pregnancy may result in serious maternal and fetal complications. To investigate the course of asthma during pregnancy in korean women, we did a retrograde study of 27 pregnant women who had been admitted to Korea University Hospital for asthma worsened. Method: Twenty seven pregnant women who had been visited to Korea University Hospital for asthma worsened were enrolled in our retrospective study. We reviewed medical recordings and interviewed patients with asthma. Results: Twenty seven pregnant women with asthma were evaluated, and 25 patients were enrolled to our study. Two patients experienced abortions at 6 weeks and 25 weeks gestation, respectively. The period of asthma worsened was commonly during weeks 20 to 28 of gestation. And all patients wosened were improved during the last 4 weeks of pregnancy. Twenty(80%) of 25 women whose asthma worsened during pregnancy reverted toward their prepregnancy status after delivery(p<0.002). The causes of asthma worsened during pregnancy are reduction or even complete cessaton of medication due to fears about its safety(40%), worsening after upper respiratory infection (28%), and unknown(32%). There were no adverse perinatal outcomes in 25 pregnant asthma subjects. Conclusions: A major problem of therapy for asthma during pregnancy is reduction or even complete cessation of medication due to fears of fetal effects. Therefore, maternal education and optimal clinical and pharmacologic management is necessary to mitigate maternal and fetal complications.

• Tuberculosis and Respiratory Diseases
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• v.72 no.6
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• pp.481-485
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• 2012

Background: Tracheostomy is a common procedure for patients requiring prolonged mechanical ventilation. However, the timing of tracheostomy is quite variable. This study was performed to find out the factors determining the timing of tracheostomy in medical intensive care unit (ICU). Methods: Patients who were underwent tracheostomy between January 2008 and December 2009 in the medical ICU of Seoul National University Hospital were included in this retrospective study. Results: Among the 59 patients, 36 (61.0%) were male. Median Acute Physiology And Chronic Health Evaluation (APACHE) II scores and Sequential Organ Failure Assessment scores on the admission day were 28 and 7, respectively. The decision of tracheostomy was made on 13 days, and tracheostomy was performed on 15 days after endotracheal intubation. Of the 59 patients, 21 patients received tracheostomy before 2 weeks (group I) and 38 were underwent after 2 weeks (group II). In univariate analysis, days until the decision to perform tracheostomy (8 vs. 14.5, p<0.001), days before tracheostomy (10 vs. 18, p<0.001), time delay for tracheostomy (2.1 vs. 3.0, p<0.001), cardiopulmonary resuscitation (19.0% vs. 2.6%, p=0.049), existence of neurologic problem (38.1% vs. 7.9%, p=0.042), APACHE II scores (24 vs. 30, p=0.002), and $PaO_2/FiO_2$ <300 mm Hg (61.9% vs. 91.1%, p=0.011) were different between the two groups. In multivariate analysis, APACHE II scores${\geq}20$ (odds ratio [OR], 12.44; 95% confidence interval [CI], 1.14~136.19; p=0.039) and time delay for tracheostomy (OR, 1.97; 95% CI, 1.11~3.55; p=0.020) were significantly associated with tracheostomy after 2 weeks. Conclusion: APACHE II scores${\geq}20$ and time delay for tracheostomy were associated with tracheostomy after 2 weeks.

• Tuberculosis and Respiratory Diseases
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• v.39 no.2
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• pp.141-149
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• 1992

In order to establish predicted normal values of volume of isoflow($V_{iso}\dot{V}$), $V_{iso}\dot{V}$ were measured in a total 234 healthy adults, consisting of 78 male nonsmokers, 108 male smokers and 48 female nonsmokers. The volumes of isoflow were determined through analysis of maximal expiratory flow volume curves recorded with a mixture of 80% helium and 20% oxygen(He-$O_2$ gas) following one(1VC) and three vital capacity(3VC) maneuver and with room air. Based upon the correlation of the observed values of the parameters to age and physical characteristics, the following regression formulars for the prediction of the parameters, using age in year(A) as a variable, were obtained. 1VC method ($V_{iso}\dot{V}_1$) Male smoker : 0.614A+2.347 Male nonsmoker : 0.370A-2.792 Female nonsmoker : 0.588A-2.459 3VC method ($V_{iso}\dot{V}_3$) Male smoker : 0.467A+1.696 Male nonsmoker : 0.288A-1.538 Female nonsmoker : 0.367A-0.114.

• Tuberculosis and Respiratory Diseases
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• v.44 no.4
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• pp.942-948
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• 1997

Benign Tracheobroncheal tumor is a rare disease such as 1.9% of all tumor of pulmonary origin. Because clinical manifestation of benign tracheal tumor resembles that of broncheal asthma, these patients are usually treated in a way that used in broncheal asthma. Therefore, the diagnosis is delayed. We experienced a case of tracheal neurilemmoma that cured by bronchoscopic laser therapy. A 23-year-old woman visited our hospital because of progressing dyspnea especially during inspiration. She was treated with aminophylline and 2 agonist under the impression of bronchial asthma at a local clinic. But because the symptoms were not relieved and pulmonary function test revealed variable extrathoracic lesion, we conducted bronchoscopy and biopsy. There were $1.5{\times}2cm$ sized movable mass with stalk attached right anterior wall of bronchus. The biopsy result was neurilemmoma. Therefore we conducted bronchoscopic Laser therapy four times and the lesion disappeared in bronchoscopy and chest CT.

• Tuberculosis and Respiratory Diseases
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• v.59 no.6
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• pp.700-703
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• 2005

We experienced a case of pulmonary cryptococcosis in an immunocompetent patient who presented with uncommon radiological findings. He complained of a dry cough for 3 weeks. The chest X-ray and CT showed multiple, variable sized, and irregular patch consolidations with cavities combined with some ground glass opacities in both lower lung fields. The diagnosis was made histologically via a thoracoscopic lung biopsy. The patient was administered oral fluconazole has since been well.

• Tuberculosis and Respiratory Diseases
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• v.59 no.6
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• pp.600-605
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• 2005

Background : Primary multidrug-resistant tuberculosis is defined as Mycobacterium tuberculosis isolates that are resistant to at least isoniazid and rifampin in never-been-treated tuberculosis patients, and this malady is caused by the transmission of a resistant strain from one patient, who is infected with a resistant Mycobacterium tuberculosis strain, to another patient. The prevalence of primary multidrug-resistant tuberculosis could be a good indicator of the performance of tuberculosis control programs in recent years. We conducted a case-control study to identify the risk factors for primary multidrug-resistant tuberculosis. Methods : From January 1, 2001 to, June 30, 2003, by conducting prospective laboratory-based surveillance, we identified 29 hospitalized patients with P-MDRTB and these patients constituted a case group in this study. The controls were represented by all the patients with culture-confirmed drug susceptible tuberculosis who were admitted to National Masan Hospital during the same study period. The odds ratios for the patients with primary multidrug-resistant tuberculosis, as compared with those of the patients with drug susceptible tuberculosis, were calculated for each categorical variable with 95% confidence intervals. Results : Multivariate logistic regression showed that the presence of diabetes mellitus (odds ratio 2.68; 95% confidence interval, 1.05-6.86) was independently associated with having primary multidrug-resistant tuberculosis. Conclusion : This study has shown that diabetes mellitus might be one of the risk factors for primary multidrug-resistant tuberculosis.

• Tuberculosis and Respiratory Diseases
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• v.47 no.5
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• pp.691-696
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• 1999

Epithelioid hemangioendothelioma(EH) is a rare pulmonary vascular malignancy. Clinically, EH has been considered as an indolent, generally non-aggressive tumor. We report a case of EH which was confirmed by open lung biopsy. A 34-year-old woman was admitted for further evaluation of multiple small(less than 2cm in size) nodules, incidentally detected on screening chest radiograph. The chest CT showed multiple, relatively well-marginated, variable sized nodules at both whole lung. Transbronchial lung biopsy and transthoracic needle aspiration were nondiagnostic and open lung biopsy was performed from right middle lobe of lung. On light-microscopic examination, the nodules were composed of a poorly cellular hyaline core and a more cellular peripheral zone which extended into air space in a micropolypoid fashion and obliterated blood vessels. The tumor cells at the peripheral zone had intracytoplasmic vacuoles which suggested primitive, vascular differentiation. Immuno-histochemical study revealed the cellular area which gave positive reaction to factor VIII-related antigen. She received no specific therapy after open lung biopsy and chest X-ray films had showed no change for about two years.

• Tuberculosis and Respiratory Diseases
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• v.73 no.6
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• pp.303-311
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• 2012

Background: This study was designed to analyze the efficacy of gefitinib as a second-line therapy, according to the clinical characteristics in Korean patients with non-small-cell lung cancer (NSCLC). Methods: In this Phase IV observational study, we recruited patients, previously failed first-line chemotherapy, who had locally advanced or metastatic NSCLC, and who were found to be either epidermal growth factor receptor (EGFR) mutation-positive or satisfied 2 or more of the 3 characteristics: adenocarcinoma, female, and non-smoker. These patients were administered with gefitinib 250 mg/day, orally. The primary endpoints were to evaluate the objective response rate (ORR) and to determine the relationship of ORRs, depending on each patient's characteristics of modified intent-to-treat population. Results: A total of 138 patients participated in this study. One subject achieved complete response, and 42 subjects achieved partial response (ORR, 31.2%). The subgroup analysis demonstrated that the ORR was significantly higher in patients with EGFR mutation-positive, compared to that of EGFR mutation-negative (45.8% vs. 14.0%, p=0.0004). In a secondary efficacy variable, the median progression-free survival (PFS) was 5.7 months (95% confidence interval, 3.9~8.4 months) and the 6-month PFS and overall survival were 49.6% and 87.9%, respectively. The most common reported adverse events were rash (34.4%), diarrhea (26.6%), pruritus (17.5%), and cough (15.6%). Conclusion: Gefitinib was observed in anti-tumor activity with favorable tolerability profile as a second-line therapy in these selected patients. When looking at EGFR mutation status, EGFR mutation-positive showed strong association with gefitinib by greater response and prolonged PFS, compared with that of EGFR mutation-negative.