• Journal of The Korean Society of Inherited Metabolic disease
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• v.24 no.1
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• pp.17-25
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• 2024

Fabry disease (FD) is an X-linked lysosomal storage disorder. It is caused by mutations in the α-galactosidase A gene, which results in deficient or absent activity of α-galactosidase A (α-Gal A). This leads to a progressive accumulation of globotriaosylceramide (Gb3) in various tissues. Manifestations of Fabry disease include serious and progressive impairment of renal and cardiac function. In addition, patients experience pain, gastrointestinal disturbance, transient ischaemic attacks, and strokes. Additional effects on the skin, eyes, ears, lungs, and bones are often seen. Reduced life expectancy and deadly consequences are being caused by cardiac involvement. Chaperone therapy or enzyme replacement therapy (ERT) are two disease-specific treatments for FD. Thus, early detection of FD is critical for decreasing morbidity and mortality. Globotriaosysphingosine (lyso-Gb3) for identifying atypical FD variants and highly sensitive troponin T (hsTNT) for detecting cardiac involvement are both significant diagnostic indicators. This review aimed to offer a basic resource for the early diagnosis and update on the diagnosis of having FD. We will also provide a general diagnostic algorithm and information on ERT and its accompanying treatments.

• Clinical and Experimental Pediatrics
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• v.50 no.1
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• pp.47-51
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• 2007

Purpose : The early diagnosis of Kawasaki disease (KD) is difficult sometimes, especially in atypical or incomplete cases presenting 4 or less principal clinical features without coronary arterial lesions (coronary arterial ectasia or aneurysm). The authors investigated the incidence of echocardiographic abnormalities in patients with KD to discover whether abnormal echocardiographic findings might be helpful in the early diagnosis of KD. Methods : Echocardiography was done in the acute stage of 103 patients with KD (Kawasaki group) and 40 patients with other acute febrile illnesses (control group). Abnormal echocardiographic findings were classified into 4 categories and defined as follows; 1) significant pericardial effusion, 2) significant valvular dysfunctions, 3) left ventricular systolic dysfunction, 4) coronary arterial ectasia or aneurysm. Results : In the Kawasaki group, significant pericardial effusion was present in 24 patients (23.3 percent), significant valvular dysfunctions in 30 patients (29.1 percent), left ventricular systolic dysfunction in 10 patients (9.7 percent), and coronary arterial lesions in 27 patients (26.2 percent). In the control group, significant pericardial effusion was present in only one patient (2.5 percent). The number of patients with any one of echocardiographic abnormalities was 57 (55.3 percent) in Kawasaki group and one (2.5 percent) in control group. The sensitivity of echocardiography in the diagnosis of KD was 55.3 percent, the specificity 97.5 percent, the positive predictive value 98.3 percent, and the negative predictive value 45.9 percent. Conclusion : If abnormal echocardiographic findings, even if other than coronary arterial lesions, are confirmed in patients in whom KD is suspected, it seems desirable to inifiate specific treatment for KD.

• Journal of Chest Surgery
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• v.43 no.6
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• pp.681-686
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• 2010

Background: A chest computed-tomography has become more prevalent so that it is more common to detect small sized pulmonary nodules that have not been found in previous simple chest x-ray. If those detected nodules are undersized or located in pulmonary parenchyma, it is difficult to accomplish a biopsy since it is vulnerable to explore them either grossly or digitally. Thus, in our hospital, a thoracoscopic pulmonary wedge resection was performed after locating a lesion by means of hook wire with CT-guided. Material and Method: 31 patients (17 males and 14 female patients) from December in 2006 to June in 2010 became our subjects; their 34 pulmonary nodules were subjected to the thoracoscopic pulmonary wedge resection after locating a lesion by means of hook wire with CT-guided. Also we analyzed a possibility of hook wire dislocation, a frequency of conversion to open thoracotomy, time consumed to operation after location of a lesion, operation time, post operation complication, and histological diagnosis of the lesion. Result: 12 of 34 cases were ground glass lesion, whereas 22 cases of them were solitary pulmonary lesion. The median value of the lesion was 8mm in size (range: 3 to 23 mm), while the median value was 12.5 mm in depth (range: 1 to 34 mm). The median value of time consumed from location of the lesion to anesthetic induction was 86.5 minutes (41~473 minutes); furthermore the mean value of operation time was 103 minutes (25~345 minutes). Intrathoracic wire dislocation was found in one case, but a target lesion was successfully excised. Open thoracotomy was performed in four cases due to pleural adhesion. However, there was no case of conversion to open thoracotomy due to failure to detect a target lesion. In histological diagnosis, metastatic cancer were found in 15 cases, which were the most common, primary lung cancer were in 9 cases, non-specific inflammation were in 3 cases, tuberculosis inflammation were in 2 cases, lymph nodes were in 2 cases, active tuberculosis were in 1 case, atypical adenomatous hyperplasia was in 1 case and normal lung parenchymal finding was in 1 case, respectively. Conclusion: In our hospital, in order to accomplish a precise histological diagnosis of ground-glass lesion and pulmonary nodules in lung parenchyma, location of pulmonary nodules were exactly located with hook wire under chest computed-tomography, which was followed by lung biopsy. We concluded that this was an accurate, minimally invasive and valuable method to minimize the complications and increase of cost of medical service provided.

• Tuberculosis and Respiratory Diseases
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• v.43 no.4
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• pp.613-622
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• 1996

Constrictive bronchiolitis, one of small airway diseases, is very rare and occupies one of the two arms of bronchiolitis obliterans together with proliferative bronchiolitis. Proliferative bronchiolitis, presenting the prototype with bronchiolitis obliterans with organizing pneumonia(BOOP), can be easily taken into diagnostic consideration in terms of relatively rapid clinical course and radiologic presentation as if atypical pneumonia with interstitial and alveolar infiltrations. Meanwhile constrictive bronchiolitis is not only very Tare but also easily overlooked as chronic obstructive pulmonary diseases such as emphysema, because it usually shows normal chest radiographic finding and obstructive pattern in pulmonary function test. In the aspects of the response to treatment, proliferative bronchiolitis showed dramatic response to the corticosteroid while constrictive bronchiolitis is intractable, which is easily explained on the basis of the pathologic characteristics of cicartrical replacement of bronchiolar walls. The bronchiolitis, both proliferative and constrictive, can be associated with diverse conditions such as inhalational injury, postinfectious process, drug of chemical induced reactions, connective tissue diseases, and organ trasplantation. And there is idiopathic type which has no associated condition. There is one explanation that both types of bronchiolitis lie on the same disease spectrum because the different disease pattern can be evoked from the same etiology. In contrast, another explanation is suggested that both types of bronchiolitis are one of nonspecific tissue reaction rather than a disease specific histologic finding because the various types of causes can provoke the same histologic findings. These dilemma remains for further investigation. With literature investigation, the authors report a case of constrictive bronchiolitis proven by open lung biopsy in 47 year old female who was diagnosed as non-Hodgkin's lymphoma and simultaneously had relatively rapid progression of airflow obstruction and showed negative radiographic finding without the rise factors for the development of chronic obstructive lung disease. We consider it as idiopathic because we could not find any relationship between constrictive bronchiolitis and non-Hodgkin's lymphoma on the literature search and it requires further investigation.

• Tuberculosis and Respiratory Diseases
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• v.58 no.3
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• pp.257-266
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• 2005

Background : The study of pneumonia among young men living in a group is rare. prospective study was conducted to determine the etiology, and compare the effects of macrolide and second-generation cephalosporin on the treatment of pneumonia among combat policemen. Patients and Methods : From January 2003 to April 2004, Fifty-two patients with pneumonia were treated with either azithromycin(n=25) or cefuroxime(n=27). In order to determine the cause of the pneumonia, culture studies and serologic tests for antibodies to Mycoplasma pneumoniae and Chlamydia pneumoniae were carried out. During the two weeks of medication, the Chest X-rays, blood tests and culture studies(if necessary) were followed weekly. A serologic study was followed at the end of the second week. Results : The main pathogens for pneumonia among combat policemen were Mycoplasma pneumoniae(50.0%), Chlamydia pneumoniae(10.8%), and Streptococcus pneumoniae(3.8%). The treatment was successful in most cases(51/52 cases, 98.1%). The effects of azithromycin and cefuroxime were similar (96.0% vs 100%, p>0.05). In one patient who had taken azithromycin, the clinical and radiological findings did not improved until intravenous second generation ce phalosporin had been infused. Conclusion : Atypical pathogens were the main causes of the pneumonia in the combat policemen, and the effects of macrolide and second generation cephalosporin for pneumonia were similar. However, further studies will be needed to determine if single therapy with macrolide is possible.

• Pediatric Infection and Vaccine
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• v.12 no.2
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• pp.178-185
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• 2005

Purpose : Ocular adnexal and orbital infections are broadly divided into preseptal(periorbital) and postseptal(orbital) cellulitis by orbital septum. In this study, we investigated the difference between periorbital and orbital cellulitis regarding their pathogenesis, clinical manifestations, treatments, and prognosis. Methods : We reviewed medical records of 50 cases who were hospitalized in the Severance hospital due to orbital cellulitis from May 1995 to April 2004. Results : There were 32 males and 18 females. The mean age was $3.2{\pm}3.5$ year. According to the result of orbital computerized tomography, 36 cases were periorbital cellulitis, 10 cases orbital cellulitis and 4 cases not diagnosed. The clinical manifestations of periorbital cellulitis are periorbital swelling(100%), fever(19%), orbital pain(6%), and chemosis(22%). On the other hand, those of orbital cellulitis are periorbital swelling(100%), fever(80%), orbital pain(60%), proptosis(20%), chemosis(70%) and limitation of eye movement(20%). The etiologies of periorbital cellulitis are sinusitis(14%), upper respiratory infection(8%), conjunctivitis (19%), skin wound(14%) and unknown(44%). The etiologies of orbital cellulitis are sinusitis (50%), upper respiratory infection(20%), and unknown(30%). The first line antibiotics used in the majority of cases were combinations of cefoxitin+aminoglycoside. 5 patients with orbital cellulitis taking cefoxitin+aminoglycoside had to change the medication into vancomycin or clindamycin. 3 patients with orbital cellulitis underwent operation while 1 patient developed bacterial meningitis. Conclusion : According to invasion of orbit, ocular adnexal and orbital infections are quite different in their pathogenesis, treatment and prognosis. As atypical cases may confound the diagnosis, prompt orbital computerized tomography is required for an accurate diagnosis.

• Pediatric Infection and Vaccine
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• v.4 no.1
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• pp.90-96
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• 1997

Purpose : Recently a shift in hepatitis A incidence from children to adults has been well noted. We experienced under 15-years old 31 patients who presented hepatitis A infection. In order to prepare for the prevention on hepatitis A outbreak in the future, we studied the clinical and epidemiologic manifestations of these patients. Methods : We enrolled patients from July to December in 1996 (6 months) and evaluated the monthly incidence, geographical distribution, age and sex, and clinical manfestations, including laboratory fadings. Results : Many cases of hepatitis A occured in the summer months, especially August (16/31 cases). Most of patients (87%) were living in the Seo-Ku area (northwest district of the city). In age distribution, there were no cases under 3 years of age, 3 cases from 4~5 years, 13 cases from 6~10 years, 15 cases from 11~15 years. Clinical profiles showed that dark urine, nausea and vomiting, anorexia, abdominal pain, fever, and fatigue were the common presenting symptoms. The initial presenting laboratory tests included total bilirubin 3.3mg/dl, alkaline phosphatase of 856units/L, and serum asparate aminotransferase and alanine aminolransferase levels of 910IU/L and 1239IU/L, respectively. No patient presented atypical clinical courses or complications. Conclusions : Hepatitis A in children shows benign clinical features. This study showed that the possibility of another outbreak of Hepatitis A in the TaeJon area or elsewhere in the near future Korea will be possible. To prevent an outbreak we will be concerned about the anti-HAV IgG prevalance rate in children and preventive modalities including vaccination against hepatitis A.

• Pediatric Infection and Vaccine
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• v.14 no.2
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• pp.179-187
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• 2007

Purpose : Acute viral respiratory tract infection is the most common illness among children. Involved organisms are respiratory syncytial virus (RSV), influenza virus, adenovirus, parainfluenza virus, etc. The objective of the present study is to determine epidemiology of each viral infection in Busan, South Korea between January 2004 and December 2006. Methods : We retrospectively analyzed the results of clinical samples of throat and nasal swab collected from Busan city, South Korea between January 2004 and December 2006. We collected these samples from the children with acute respiratory illness. Viruses were detected by virus culture Results : The identified pathogens were influenza A in 131 cases (46.6 percent), RSV in 40 cases (14.2 percent), influenza B in 37 cases (13.2 percent), adenovirus in 23 cases (8.2 percent), enterovirus in 37 cases (13.2%) [coxsackie virus in 20 cases (7.1 percent), atypical enterovirus in 9 cases (3.2 percent), poliovirus in 4 cases (1.4 percent), echovirus in 4 cases (1.4 percent)], rhinovirus in 9 cases (3.2 percent), parainfluenza virus in 2 cases (0.7 percent), coronavirus and bocavirus in each 1 case (0.4 percent). Influenza A were detected every year, mostly in December through April and RSV in October through February. Adenovirus were detected through out the year. Bocavirus occurred in December, 2006. Conclusion : We analyzed epidemiologic characteristics of viruses to cause the respiratory disease that prevailed at Busan area for recent three years, and from now on, a further continuous study will be necessary.

• Journal of Chest Surgery
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• v.38 no.10 s.255
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• pp.699-704
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• 2005

Background: Coronary artery fistula is rare congenital anomaly, which account for $0.27\~0.40\%$ of all congenital heart diseases. We report the clinical observations of 45 patients with coronary artery fistula. Material and Method: We reviewed all patients presented with or without symptoms of coronary artery fistula between 1987 and 2004. Age ranged from 1 to 83 years. Twenty-six patients were female. The patients were divided into 2 groups according to the presenting symptoms. Twelve patients were in group A (asymptomatic) and 33 patients in group B (symptomatic). The most common clinical presentation in group B was angina (18) followed by dyspnea (7), atypical chest pain (5), syncope (1), fatigue (1), and palpitation (1). Twenty-five patients were associated with other cardiac diseases, which were atrial septal defect (4), coronary artery occlusive disease (6), hypertension (12), and valvular heart disease (2). Result: Patients were followed-up for a mean period of $64.8\pm62.7$ months. There was no complication related to coronary artery fistula during the follow-up period in both group. There was no mortality related to coronary artery fistula. Conclusion: In symptomatic patients, early surgical treatment is recommended considering the low perioperative morbidity. In asymptomatic patients receiving medical treatment, close follow up may be necessary.

• Journal of Korean Neurosurgical Society
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• v.29 no.11
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• pp.1437-1444
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• 2000

Objectives : Traditionally intracranial meningiomas are regarded as benign and curable tumors. About half of all intracranial meningiomas locate in the skull base region. However, surgical removal of these tumors may be challenging and require special considerations. Here general aspects of skull base meningiomas including clinical presentation, surgical approaches, complications and their recurrence rate are discussed based on our experiences. Methods : A retrospective analysis of 61 consecutive patients with skull base meningioma among 210 patients of meningioma between 1989 and 1998 were done. Results : There were 41 women and 20 men ranging from 13 to 74 years(mean 52 years). These tumors were divided into seven categories according to location : olfactory groove(n＝9), sphenoid ridge(n＝16), cavernous sinus(n ＝2), tuberculum sellae(n＝8), tentorium(n＝13), cerebellopontine angle(n＝12), and foramen magnum meningiomas (n＝1). Surgical approaches were selected on the basis of the tumor attachment, size and extension on preoperative radiologic findings. Total removal(Simpson grade I and II) was achieved in 50 cases(82%), and subtotal removal (Simpson grade III) in 11 patients(18%). According to WHO classification, there were 52 of cases of benign meningioma( 86%), 6 atypical cases(10%), and 3 malignant cases(5%). The most common postoperative complications were CSF leakage(23.0%) and cranial nerve injury(8.2%). Three patient died related with tumor(one was due to surgical complication and the other two due to recurrence) but three patients died from other systemic causes. Mean follow-up period was 51.7 months after surgery. Recurrence occurred in six patients(10.9%) ; three with tentorial meningioma, two with sphenoid ridge, and one in cerebellopontine angle. Conclusion : With advances in neuroradiology and microsurgical techniques, the surgical outcome of miningiomas has been markedly improved with acceptable morbidity and mortality rates. Overall, our surgical results of skull base meningiomas is comparable to other reports. Therefore, with the appropriate operative strategy and techniques, these tumors can be completely removed and good surgical results can be expected.