• Tuberculosis and Respiratory Diseases
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• 제74권5호
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• pp.215-221
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• 2013

Background: Nontuberculous mycobacteria (NTM) are considered opportunistic pathogens, and several species of NTM are associated with human diseases that typically involve the pulmonary, skin/soft tissue, or lymphatic systems; such infection may also cause disseminated diseases. Recent studies have reported increasing rates of NTM-induced disease worldwide. Methods: Respiratory samples are being analyzed for acid-fast bacilli (AFB) culture and NTM identification at Dankook University Hospital in Cheonan, Korea, from September 2005 to September 2011. Identification is performed by using polymerase chain reaction-restriction fragment length polymorphism analysis targeting a novel region of the rpoB gene. Results: A total of 25,133 specimens were received for AFB culture, of which 1,014 (4.0%) were NTM-positive. A total of 267 samples from 186 patients were tested for NTM identifications, and 232 samples from 157 patients were positive for NTM species. Among the patients who tested positive for NTM, 65.6% were men and the average age was 63.3 years. Mycobacterium avium complex, the most commonly detected NTM pathogen, was found in 65.9% of the 232 samples. The annual average percentage of NTM isolates from AFB culture-positive specimens was 31.3%: the highest rate was seen in 2011 (44.3%), followed by 2009 (37.4%) and 2010 (37.2%). An upward trend in NTM incidence was found during the study period. Conclusion: The prevalence of pulmonary NTM isolates continues to increase in Cheonan, suggesting that pulmonary NTM disease is becoming increasingly common.

• Tuberculosis and Respiratory Diseases
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• 제74권1호
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• pp.28-31
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• 2013

We present a case of congenital cystic adenomatoid malformation (CCAM) in a 25-year-old male who was presented with chronic cough. Chest radiography revealed an abnormal mass-like shadow in the right lower pulmonary zone. A contrast enhanced computed tomography showed an 11 cm solid, cystic mixed mass on the right lower lobe. A right lower lobectomy was performed by video-assisted thoracoscopic surgery without complications. The gross specimen showed a massive cavitation with multiloculated cysts of varying size, consistent with CCAM, along with noticeable granulomatous inflammation. Non-tuberculosis mycobacteria were isolated from a bronchial wash specimen, and the resected tissue homogenates were positive for Mycobacterium avium-intracellulare complex by polymerase chain reaction.

• Clinical and Experimental Pediatrics
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• 제53권5호
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• pp.644-647
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• 2010

Purpose: To evaluate myocardial conductivity to understand cardiac involvement in patients with mitochondrial disease. Methods: We performed retrospective study on fifty-seven nonspecific mitochondrial encephalopathy patients with no clinical cardiac manifestations. The patients were diagnosed with mitochondrial respiratory chain complex defects through biochemical enzyme assays of muscle tissue. We performed standard 12-lead electrocardiography (ECG) on all patients. Results: ECG abnormalities were observed in 30 patients (52.6%). Prolongation of the QTc interval (>440 ms) was seen in 19 patients (33.3%), widening of the corrected QRS interval in 15 (26.3%), and bundle branch block in four (7.0%). Atrioventricular block, premature atrial contraction and premature ventricular contraction were seen in two patients each (3.5%) and Wolff-Parkinson-White syndrome in one patient (1.8%). Conclusion: Given this finding, we recommend active screening with ECG in patients with mitochondrial disease even in patients without obvious cardiac manifestation.

• Clinical and Experimental Pediatrics
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• 제53권12호
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• pp.994-999
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• 2010

Purpose: Mitochondrial dysfunction can present with various symptoms depending on the organ it has affected. This research tried to analyze the ophthalmologic symptoms and ophthalmologic examination (OE) results in patients with mitochondrial disease (MD). Methods: Seventy-four patients diagnosed with mitochondrial respiratory chain complex defect with biochemical enzyme assay were included in the study. They were divided into 2 groups based on the OE results by funduscopy and were analyzed on the basis of their clinical features, biochemical test results, morphological analysis, and neuroimaging findings. Results: Thirty-seven (50%) of the 74 MD patients developed ophthalmologic symptoms. Abnormal findings were observed in 36 (48.6%) patients during an OE, and 16 (21.6%) of them had no ocular symptoms. Significantly higher rates of prematurity, clinical history of epilepsy or frequent apnea events, abnormal light microscopic findings in muscle pathology, diffuse cerebral atrophy in magnetic resonance imaging, and brainstem hyperintensity and lactate peaks in magnetic resonance spectroscopy were noted in the group with abnormal OE results. Conclusion: Although the ophthalmologic symptoms are not very remarkable in MD patients, an OE is required. When the risk factors mentioned above are observed, a more active approach should be taken in the OE because a higher frequency of ocular involvement can be expected.

• 한국동물학회지
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• 제31권1호
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• pp.62-70
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• 1988

미토콘드리아가 포함하고있는 결정한유물의 미새구조와 면역황금표식법에 의한 분석을 위하여 우심근 세포의 미토콘드리아에서 전자전달체에 관여하는 효소를 분리하였다. 우심근 미토콘드리아에서 분리된 효소는 실험토끼에 주사하여 (복합체I,NADH-conezyme Q reductase; 복합체 III,Ubiquinol-cytochrome-c-oxldoreductase; 복합체 IV, Cytochrome-c-oxidase)들에 대한 면역항체를 얻었다. 이들 면역항체들은 우심근과 정상인의 골격근 미토콘드리아와 미토콘드리아에 결정함유물을 포함하는 mitochondrical myopathy환자의 골격근 미토콘드리아에 반응시켜 황금입자를 표식하고 전자현미경을 이용하여 이들 면역항체반응을 관찰하였다. 미토콘드리아가 포함하는 결정함유물의 미세구조에는 paracrystalline inclusions body와 multilamellar strudure inclusion body그리고 구형결정함유물(globular crystalline inclusions body) 및 윤형구조 (whirl shaped structure)의 크리스테 중심에 있는 구형결정함유물 등의 4종류로관찰되었다. 복합체 I,복합체 Iv의 효소에 대한 항체를 우심근과 정상인 골격근 그리고 mitochondrical myopathy환자의 골격근에 동일한 면역반응을 시켰을때 미토콘드리아 크리스테에 부착하는 황금입자의 표식 정도는 각각의 근조직에서 유사한 반응이 관찰되었다. 복합체 III의 효소에 대한 항체는 우심근과 정상인의 골격근에서는 유사한 반응이 나타났으나 mitochondrical myopathy환자의 골격근에서는 극히 소수의 황금입자가 관찰되었다. 구형결정함유물은 복합체 I,III,IV의 3종류의 효소에 대한 면역반응 결과 황금입자표식은 관찰되지 않았다. 따라서 mitochondrical myopathy환자의 미토콘드리아에는 복합에 III의 효소가 결핍되었으며 구형결정함유물은 전자전달체 효소들인 복합체 I,III,Iv 효소단백질과는 상관없는 물질로 생각된다.

• 한국동물위생학회지
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• 제46권4호
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• pp.269-281
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• 2023

In this study, a new triplex real-time quantitative reverse transcription polymerase chain reaction (tqRT-PCR) assay was developed for the rapid and differential detection of three feline viral pathogens including feline calicivirus (FCV), feline herpesvirus 1 (FHV-1), and influenza A virus (IAV) in a single reaction. The assay specifically amplified three targeted viral genes with a detection limit of below 10 copies/reaction. The assay showed high repeatability and reproducibility, with intra- and inter-assay coefficients of variation of less than 1%. Based on the diagnostic results of the assay using 120 clinical samples obtained from cats with feline respiratory disease complex (FRDC)-suspected signs, the prevalence of FCV, FHV-1, or IAV was 43.3%, 22.5%, or 0%, respectively, indicating that the diagnostic sensitivity was comparable or superior to those of previously reported monoplex qRT-PCR/qPCR assays. The dual infection rate for FCV and FHV-1 was 8.3%. These results indicate that FCV and FHV-1 are widespread and that co-infection with FCV and FHV-1 frequently occur in the Korean cat population. The developed tqRT-PCR assay will serve as a promising tool for etiological and epidemiological studies of these three bacterial pathogens, and the prevalence data for three feline viruses obtained in this study will contribute to expanding knowledge about the epidemiology of FRDC in the current Korean cat population.

• Tuberculosis and Respiratory Diseases
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• 제74권3호
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• pp.124-128
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• 2013

Pleural effusion is a rare complication in non-tuberculous mycobacterial infection. We report a case of Mycobacterium intracellulare pleuritis with idiopathic pulmonary fibrosis in a 69-year-old man presenting with dyspnea. Pleural effusion revealed lymphocyte dominant exudate. M. intracellulare was identified using a polymerase chain reaction-restriction fragment length polymorphism method and liquid cultures of pleural effusion and pleural biopsy. After combination therapy for M. intracellulare pulmonary disease, the patient was clinically well at a 1-month follow-up.

• BMB Reports
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• 제44권5호
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• pp.298-305
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• 2011

Most intracellular reactive oxygen species (ROS), especially superoxide anion ($O_2^{{\bullet}_-}$) that is converted from oxygen, are overproduced by excessive electron leakage from the mitochondrial respiratory chain. Intracellular oxidative stress that damages cellular components can contribute to lifestyle-related diseases such as diabetes and arteriosclerosis, and age-related diseases such as cancer and neuronal degenerative diseases. We have previously demonstrated that the excessive mitochondrial $O_2^{{\bullet}_-}$ production caused by SDHC mutations (G71E in C. elegans, I71E in Drosophila and V69E in mouse) results in premature death in C. elegans and Drosophila, cancer in mouse embryonic fibroblast cells and infertility in transgenic mice. SDHC is a subunit of mitochondrial complex II. In humans, it has been reported that mutations in SDHB, SDHC or SDHD often result in inherited head and neck paragangliomas (PGLs). Recently, we established Tet-mev-1 conditional transgenic mice using our uniquely developed Tet-On/Off system, which equilibrates transgene expression to endogenous levels. These mice experienced mitochondrial respiratory chain dysfunction that resulted in $O_2^{{\bullet}_-}$ overproduction. The mitochondrial oxidative stress caused excessive apoptosis leading to low birth weight and growth retardation in the neonatal developmental phase in Tet-mev-1 mice. Here, we briefly describe the relationships between mitochondrial $O_2^{{\bullet}_-}$ and aging phenomena in mev-1 animal models

• Clinical and Experimental Pediatrics
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• 제52권4호
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• pp.471-475
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• 2009

목 적 : 사립체 질환은 여러 가지 장기의 증상을 나타내는 에너지 대사 질환으로, 뇌병증과 더불어 안과적 증상도 다양한 형태로 표현된다. 본 연구에서는 시신경에서 후두부의 뇌피질에 이르는 신경계를 평가하는 시각전위유발 검사를 사립체 질환 환아에서 시행하여 그 유용성과 가치를 분석하고자 하였다. 방 법 : 근육 조직을 이용한 분광광도 검사법에서 사립체 호흡 연쇄 복합체 I 결함으로 확진된 환아 19명을 대상으로 섬광자극 시각 유발전위검사를 시행하여, 그 결과를 정상 반응군(I), 잠복기 지연군(II), 비정상 파형군(III), 무반응 이상군(IV)으로 나누어 판정하였으며, 환아들의 임상양상과 비교하였다. 결 과 : 전체 19명 중 시각전위 유발검사에서 이상소견을 보인 환아는 14명이었고, 무반응 이상군(IV)이 6명, 비정상 파형군(III)이 6명, 잠복기 지연군(II)이 2명 관찰되었다. 망막과 시신경 검사를 포함한 안과 검진에서 이상 소견을 보인 환아는 7명이었으며, 망막 색소 침착이 3명, 시신경 위축 3명, 사시 3명, 안구진탕 1명, 시력 소실이 1명에서 나타났다. 안과 검진에서 이상 소견을 보인 7명은 모두 시각 유발전위검사에서 이상 소견을 나타내었으며, 안과 검진에서 정상 소견을 보인 12명 중에서도 7명이 시각전위유발 검사에서 이상 소견을 나타내었다. 결 론 : 시각 유발전위검사는 안과 증상을 포함하여 다양한 중추신경계 관련 증상이 동반되는 사립체 질환에서 유용한 선별 검사이다.

• 대한유전성대사질환학회지
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• 제15권2호
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• pp.72-77
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• 2015

Purpose: Deficits of the respiratory chain are reported to be the major cause of Leigh syndrome is said to be the underlying causes. The need for biochemical diagnosis to draw more accurate diagnosis or prognosis to support treatments is rapidly increasing. This study tried to analyze the aspects of clinical characteristics and biochemical diagnosis of mitochondrial respiratory chain complex (MRC) defect in Leigh syndrome, using methods of biochemical enzyme assay. Methods: We included total number of 47 patients who satisfied the clinical criteria of Leigh syndrome and confirmed by biochemical diagnosis. All those patients went through muscle biopsy to perform biochemical enzyme assay to analyze MRC enzyme in order to find the underlying cause of Leigh syndrome. Results: MRC I defect was seen in 23 (48.9%) cases taking the first place and MRC IV defect in 15 (31.9%) following it. There were 9 (19.2%) cases of combined MRC defect. Combined cases of type I and IV were detected in 7 (14.9%) patients while type I and V in 2 (4.3%). The onset age of symptom was less than 1 year old in 28 (59.6%). The most common early symptom, observed in 23 (48.9%), was delayed development, but there were other various neurological symptoms observed as well. In regard with the disease progression, 35 (74.5%) patients showed slowly progressive course, the one that progressed continuously but slowly over 2 years of period. As for Maximum motor development, 22 (46.8%) were bed-ridden state, most of them suffering serious delayed development. Patients showed various symptoms with different organs involved, though neuromuscular involvement was most prominent. Delayed development was seen in all cases. Multifocal lesion in brain MRI study was seen in 36 (76.6 %) cases, taking a greater percentage than 11 (23.4%) cases with single lesion. In MR spectroscopy study, the characteristic lactate peak of mitochondrial disease was identified in 20 (42.6%) patients. Conclusions: Further analysis of clinical and biochemical diagnosis on more extended group of patients with Leigh syndrome will enable us to improve diagnostic precision and to understand the natural course of mitochondrial disease.