• Clinical and Experimental Pediatrics
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• v.48 no.10
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• pp.1132-1138
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• 2005

Purpose : The mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. They are caused by a deficiency of the enzymes involved in the degradation of glycosaminoglycans. Early recognition is important because recombinant enzyme replacement therapy is now available for MPS. We studied the clinical characteristics of 80 MPS children with the object of determining the epidemiological, clinical and radiological features in Korean MPS children. Methods : Diagnosis of MPS was confirmed by skin fibroblast enzyme analysis in 80 patients between February 1995 and December 2004. Charts were retrospectively reviewed for clinical and radiological findings, as well as for intelligence and speech evaluations. Results : Hunter syndrome (MPS type II) was the most prevalent type, appearing in 51/80 cases (64 %), followed by Sanfilippo syndrome (MPS III-18%), Hurler syndrome (MPS I-15%), and Morquio syndrome (MPS IV-4%). The average age at diagnosis was 5.5 years (range 1 to 20), and the male-to-female ratio was 4.7 : 1. Typical radiographic changes were observed in 45/54 cases (83%). Mitral regurgitation was the most common cardiac defect. Moderate to profound mental retardation and hearing loss were present in 14/35 cases (56%) and 33/38 cases (82%), respectively. Four MPS II patients had bone marrow transplantation, with mixed outcomes. Five MPS I patients are currently on enzyme replacement therapy. Conclusion : Our study showed a high proportion of MPS II cases (64%), which may represent population variability. By studying the clinical features of these patients, we hope to alert pediatricians of the warning signs of MPS.

• Biomedical Science Letters
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• v.3 no.2
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• pp.107-114
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• 1997

Recent reports indicate that the clinical usefulness of prostate specific antigen (PSA), particulary in the differentiation of benign prostate hyperplasia from prostate cancer, can be improved by measuring the amount of free PSA in serum. Measuring free PSA is especially useful in attempts to improve diagnositc performance of PSA in the diagnostic gray zone of total PSA. The objective of this study was to develop free PSA assay kit using sandwich microplate enzyme immunoassay format. We chose a test format with polyclonal anti-PSA antibodies coated on the wells and monoclonal anti-free PSA antibodies for quantification to gain higher test sensitivity. We adpoted 10 uL of specimen and 2 hours of first incubation time with detecting antibody for free PSA EIA format using microplate. The within-day and between-day precision (%CV) in the high and low concentration ranges were below 4%. The correlation coefficient between in-house free PSA assay and commercial assay kit was r=0.9965 (slope=0.0984, y intercept=0.0173, N=27). No hook effect was found by 40 ng/mL and correlation coefficient (r) value of the fitted linear regression was over 0.995. The recovery tests were in the range of 98.9∼104.1％ for free PSA. In conclusion, in-house free PSA enzyme immune assay is cost effective, simple and rapid and could be useful for the prognosis after theraphy as well as for the differential diagnosis between prostate cancer and benign prostate hyperplasia.

• Journal of the korean academy of Pediatric Dentistry
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• v.41 no.2
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• pp.180-186
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• 2014

One or two mesiodens are mostly common to the clinician. However, three mesiodens is rarely found and can cause complications such as orthodontic problems or interruptions of the adjacent teeth with more than 1 or 2 mesiodens. Many factors cause irregularities in the permanent dentition. Mesiodens, especially in the anterior maxilla, can disturb the eruption of adjacent permanent teeth and cause diastemas, ectopic eruptions, root resorption, or the formation of dentigerous cysts. The early diagnosis of mesiodens is important for preventing such complications, and the timing of intervention should be based on their location and number. Periodic checkups and improved diagnostic devices make it easy to find mesiodens and associated complications. In this case, 3 supernumerary teeth in the maxillary anterior region were affecting the eruption of the adjacent permanent incisors. To minimize complications and preserve the deciduous teeth, the three supernumerary teeth were extracted in 2 steps. Since cone-beam computed tomography was not available, a brace wire was used to measure the depth of the mesiodens.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.329-334
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• 2010

Purpose : The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient hypermethioninemia among patients with hypermethioninemia on a neonatal screening test. Methods : We performed a retrospective study of 58 patients transferred to Shoonchunhyang Hospital because of hypermethioninemia on a neonatal screening test between January 1996 and August 2009. We analyzed the level of amino acid from plasma and urine, as well as blood homocysteine.Results : Almost half of the 58 patients were identified as normal. Whereas only 3 (5.1%) patients were identified as having homocystinuria, about 20.7% (12 cases) of the patients had isolated hypermethioninemia. The ages of these two groups at initial detection of hypermethioninemia on plasma amino acid analysis were $50.0{\pm}22.5$ days and $34.9{\pm}13.5$ days, respectively. Both groups were put on diets, and they showed a normal developmental course as a result of early diagnosis and treatment. Conclusion : Hypermethioninemia without homocystinuria, referred to as isolated hypermethioninemia, was also detected. Thus, the impact of hypermethioninemia on a neonatal screening test should be carefully evaluated through analysis of amino acid levels from blood and urine, and we need to detect and treat an early stage of isolated hypermethioninemia as well as homocystinuria.

• Tuberculosis and Respiratory Diseases
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• v.50 no.2
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• pp.222-228
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• 2001

Backgrounds : Recent technological developments have introduced a new method to identifying M. tuberculosis complex DNA in clinical samples directly. The direct amplification test (DAT) is approved for identifying M. tuberculosis complex in respiratory specimens that are smear-positive for acid-fast bacilli (AFB). When there is a discrepancy between the AFB smear and DAT, no information on their clinical utility is currently available. In this study, the diagnostic reliability of DAT was investigated in suspected pulmonary tuberculosis patients whose sputum AFB smear was negative. Methods : From June 1, 1998 through May 30, 1999, 909 patients with presumed active pulmonary tuberculosis were enrolled. A sputum AFB stain, culture, DAT and/or biopsy were performed. Using the criteria of clinical tuberculosis or confirmed tuberculosis, the positive predictive value of DAT in diagnosing pulmonary tuberculosis was investigated. Results : The positive predictive value of DAT was 82.1% by the clinically active tuberculosis criteria. However, it decreased to 61.5% when diagnosis was restricted to only to culture positive or biopsy proven cases. The false positive rate of DAT was 18.0%. Conclusion : The DAT is a valuable diagnostic method in suspected patients whose sputum AFB is was negative.

• Tuberculosis and Respiratory Diseases
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• v.53 no.2
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• pp.161-172
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• 2002

Background : To Investigate the association between bronchial anthracofibrosis (AF) and tuberculosis (TB), and the clinical utility of a polymerase chain reaction (PCR) on bronchial specimens for rapid diagno-sis of active pulmonary TB in patients with bronchial AF. Method : Thirty patients (25 women and 5 men ranging in age from 53 to 88), who were diagnosed with bronchial AF by a bronchoscopic exami-nation, were enrolled in this study. PCR targeting the IS6110 segment of Mycobacterium tuberculosis was performed on the bronchial wash fluid and anthracofibrotic bronchial tissue. The PCR results were compared with the bacteriological, histological, and clinical findings. Results : Eighteen of the 30 patients (60%) were associated with TB, nine of whom were confirmed as having active TB. The remaining 9 had a past history of TB. The sputum or bronchial aspirate AFB smear, culture, and histological findings were positive in 4 (13%), 9 (30%), and 5 (17%) patients, respectively. PCR of the AF tissue and bronchial wash fluid was positive in 5 (17%) and 11 (37%) of the 30 patients, respectively. PCR was more sensitive than the AFB smears for diagnosing pulmonary TB (22 % us 89 %, respectively, p<0.05). All 5 patients with positive AF tissue PCR results also had both histological findings and positive bronchial wash fluid PCR results. Of the 3 patients with positive PCR but negative bacteriological or histological results, 2 of these patients appeared to have active tuberculosis on a clinical basis. Conclusion: Although TB-PCR did not reveal an increased association between bronchial AF and TB compared with traditional methods, PCR on the bronchial wash fluid appears to be useful for the rapid diagnosis of pulmonary TB in patients with bronchial AF. TB-PCR on AF bronchial tissue itself did not yield additional benefits for diagnosing TB, which suggests that an AF lesion itself may not be an active or original site of the infection, but a secondary change of TB.

• Tuberculosis and Respiratory Diseases
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• v.45 no.3
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• pp.519-528
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• 1998

Background: Diagnosis of pulmonary tuberculosis is not easy when the sputum smear for Mycobacterium tuberculosis(M. Tb) is negative. We evaluated the clinical utility of polymerase chain reaction(PCR) for detecting M. Tb in bronchoalveolar lavage(BAL) samples. Methods: We recruited 84 patients whose sputum smear for M. Tb were negative or not available due to no production of sputum. We performed bronchoalveolar lavage for acid-fast stain, culture of mycobacteria, and PCR assay of BAL fluid. We analyzed the results of microbiologic examination. Results: The sensitivity of BAL fluid smear, culture, and PCR were 20%, 38%, and 40%, respectively. The specificity of BAL fluid PCR was 95%. The positive predictive value of PCR was 89%. The smear of BAL fluid was positive in 17%. The PCR of BAL fluid was the only diagnostic test in 17%. Therefore, the BAL fluid analysis including smear and PCR was diagnostic in 34 % within 24 hours. The BAL fluid analysis including smear, PCR, and culture was diagnostic in 55% within 2 month. Conclusion: The BAL fluid PCR was valuable method in the diagnosis of pulmonary tuberculosis in patients whose sputa were not available or reveal negative smear.

• Tuberculosis and Respiratory Diseases
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• v.65 no.2
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• pp.110-115
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• 2008

Background: Congenital cystic adenomatoid malformation of the lung (CCAM) is a rare congenital developmental anomaly of the lower respiratory tract. Most cases are diagnosed within the first 2 years of life, so adult presentation of CCAM is rare. We describe here six adult cases of CCAM and the patients underwent surgical resection, and all these patients were seen during a five and a half year period. The purpose of this study was to analyze the clinical, radiological and histological characteristics of adult patients with CCAM. Methods: Through medical records analysis, we retrospectively reviewed the clinical characteristics, the chest pictures (X-ray and CT) and the histological characteristics. Results: Four patients were women and the mean age at diagnosis was 23.5 years (range: 18~39 years). The major clinical presentations were lower respiratory tract infection, hemoptysis and pneumothorax. According to the chest CT scan, 5 patients had multiseptated cystic lesions with air fluid levels and one patient had multiple cavitary lesions with air fluid levels, and these lesions were surrounded by poorly defined opacities at the right upper lobe. All the patients were treated with surgical resection. 5 patients underwent open lobectomy and one patient underwent VATS lobectomy. On the pathological examination, 3 were found to be CCAM type I and 3 patients were CCAM type II, according to Stocker's classification. There was no associated malignancy on the histological studies of the surgical specimens. Conclusion: As CCAM can cause various respiratory complications and malignant changes, and the risks associated with surgery are extremely low, those patients who are suspected of having or who are diagnosed with CCAM should go through surgical treatment for making the correct diagnosis and administering appropriate treatment.

• Tuberculosis and Respiratory Diseases
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• v.44 no.2
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• pp.280-289
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• 1997

Background : Bronchioloalveolar carcinoma (BAC) has been reported to diveres spectrum of chinical presentations and radiologic patterns. The three representative radiologic patterns are followings ; 1) a solitary nodule or mass, 2) a localized consolidation, and 3) multicentric or diffuse disease. While, the localized consolidation and solitary nodular patterns has favorable prognosis, the multicentric of diffuse pattern has worse prognosis regardless of treatment. BAC presenting as a solitary pulmonary nodule is often misdiagnosed as other benign disease such as tuberculoma. Therefore it is very important to make proper diagnosis of BAC with solitary nodular pattern, since this pattern of BAC is usually curable with a surgical resection. Methods : We reviewed the clinical and radiologic features of patients with pathologically-proven BAC with solitary nodular pattern from January 1995 to September 1996 at Samsung Medical Center. Results : Total 11 patients were identified. 6 were men and 5 were women. Age ranged from 37 to 69. Median age was 60. Most patients with BAC with solitary nodular pattern were asymptomatic and were detected by incidental radiologic abnormality. The chest radiograph showed poorly defined opacity or nodule and computed tomography showed consolidation, ground glass appearance, internal bubble-like lucencies, air bronchogram, open bronchus sign, spiculated margin or pleural tag in most patients. The initial diagnosis on chest X-ray were pulmonary tuberculosis in 4 patients, benign nodule in 2 patients and malignant nodule in 5 patients. The FDG-positron emission tomogram was performed in eight patients. The FDG-PET revealed suggestive findings of malignancy in only 3 patients. The pathologic diagnosis was obtained by transbronchial lung biopsy in 1 patient, by CT guided percutaneous needle aspiration in 2 patients, and by lung biopsy via video-assited thoracocopy in 8 patients. Lobectomy was performed in all patients and postoperative pathologic staging were $T_1N_0N_0$ in 8 patients and $T_2N_0M_0$ in 3 patients. Conclusion : Patients of BAC presenting with solitary nodular pattern were most often asymptomatic and incidentally detected by radiologic abnormality. The chest X-ray showed poorly defined nodule or opacity and these findings were often regarded as benign lesion. If poorly nodule or opacity does not disappear on follow up chest X-ray, computed tomography should be performed. If consolidation, ground glass appearance, open bronchus sign, air bronchogram, internal bubble like lucency, pleural tag or spiculated margin are found on computed tomography, further diagnostic procedures, including open thoracotomy, should be performed to exclude the possiblity of BAC with solitary nodular pattern.

• Journal of Oral Medicine and Pain
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• v.37 no.2
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• pp.125-133
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• 2012

TMJ Osteoarthritis is a degenerative disease caused by overload on joint tissue, and often accompany with local tenderness on the joint, crepitus by mandibular movement, restriction of mandibular movement, and anterior openbite. In general, panoramic radiography, TMJ panoramic radiography, and transcranial radiography are conducted to diagnose osteoarthritis after clinical examination, however, these radiographic evaluations are limited in detecting minute bony changes of early pathologic lesion. The aim of this pilot study was to evaluate the limitation and usefulness of several TMJ imaging techniques, so we compare the findings from clinical examination, plain film radiographs, tomograph, and bone scan from 81 patients with temporomandibular joint disorder. The proportion of patients showing same findings in plain film radiographs, TMJ tomograph, and bone scan was high, however, it is desirable that clinician should conduct phased imaging examinations according to the clinical findings due to the possibilities of false negative findings in diagnosis of osteoarthritis.