• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.62-67
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• 2018

Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth.

• Pediatric Infection and Vaccine
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• v.28 no.2
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• pp.92-100
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• 2021

Purpose: Rapid detection of etiologic organisms is crucial for initiating appropriate therapy in patients with central nervous system (CNS) infection. This study aimed to evaluate the diagnostic value of the BioFire^® Meningitis/Encephalitis (ME) panel in detecting etiologic organisms in cerebrospinal fluid (CSF) samples from febrile infants. Methods: CSF samples from infants aged <90 days who were evaluated for fever were collected between January 2016 and July 2019 at the Seoul National University Children's Hospital. We performed BioFire^® ME panel testing of CSF samples that had been used for CSF analysis and conventional tests (bacterial culture, Xpert^® enterovirus assay, and herpes simplex virus-1 and -2 polymerase chain reaction) and stored at -70℃ until further use. Results: In total, 72 (24 pathogen-identified and 48 pathogen-unidentified) CSF samples were included. Using BioFire^® ME panel testing, 41 (85.4%) of the 48 pathogen-unidentified CSF samples yielded negative results and 22 (91.7%) of the 24 pathogen-identified CSF samples yielded the same results (enterovirus in 19, Streptococcus agalactiae in 2, and Streptococcus pneumoniae in 1) as those obtained using the conventional tests, thereby resulting in an overall agreement of 87.5% (63/72). Six of the 7 pathogen-unidentified samples were positive for human parechovirus (HPeV) via BioFire^® ME panel testing. Conclusions: Compared with the currently available etiologic tests for CNS infection, BioFire^® ME panel testing demonstrated a high agreement score for pathogen-identified samples and enabled HPeV detection in young infants. The clinical utility and cost-effectiveness of BioFire^® ME panel testing in children must be evaluated for its wider application.

• Pediatric Infection and Vaccine
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• v.8 no.2
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• pp.213-221
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• 2001

Propose : Tsutsugamushi fever is a acute febrile disease, which is caused by O. tsutsugamushi. Recently, this disease is increasingly reported in children. This study was undertaken to investigate clinical features of tsutsugamushi fever in children. Methods : This study involved 17 children with tsutsugamushi fever who were admitted to Masan Samsung hospital between September 1997 and December 2000. We investigated the age, sex ratio, clinical manifestations, laboratory findings, response of therapy and prognosis. Results : The age of patients was $6.9{\pm}3.6$ years, ranging from 6 months to 12 years and male predilection(58.8%) was noted and all cases of patients occured in October or November. The most common symptoms were fever in all cases and headache in 8(47.1%). The most common signs were skin rash in all cases, eschar in 14(82.4%) and lymphadenopathy 8(47.1%). Locations of the eschars were back and inguinal area in each 3 cases, neck and chest in each 2, popliteal area in 2, scalp and thigh in each 1. Laboratory findings included anemia in 1 case, leukopenia and thrombocytopenia in each 5, hematuria and proteinuria in each 1, ESR elevation in 2 and positive CRP in 12, AST elevation in 9 and ALT elevation in 7. Serologic diagnosis was made by passive hemagglutination assay(PHA) in 8 cases(47%) on admission, 4 cases in initial negative group were performed follow-up test at 2nd or 3rd weeks of illness and then all cases of 4 were converted to positive reaction. Clinical improvement was noticed in all cases after treatment to chloramhenicol or doxycycline. Mean duration for defervescence after treatment was $1.4{\pm}0.8$ days. Complications were interstitial pneumonia in 1 case and aseptic meningitis in 3, but all cases of patients were recovered without sequelae or recurrence. Conclusions : Tsutsugamushi fever in children was similiar to adult in the clinical features except male predilection. Early diagnosis and empirical treatment based on clinical manifestations such as fever, skin rash, eschar, lymphadenopathy is important and serologic diagnosis need to perform follow-up test at 2nd or 3rd weeks of illness.

• Journal of Nutrition and Health
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• v.43 no.5
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• pp.533-542
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• 2010

The objective of this study is to provide basic information and policy implications needed to balance the supply and demand for dietitian by projecting supply and demand for dietitian. The data from the Ministry of Health Welfare and Family on the number of licensed nutritionist, resident registration data of the Ministry of Public Administration and Security, and health insurance qualification data of the National Health Insurance Corporation were used to examine the current status of supply. To project the supply of nutritionist workforce, the in-out moves method and demographic method were used. The ratios of nutritionist to population and GDP, and that of other countries were applied as the demand projection method. According to the study results, the projection on the imbalance of supply and demand for dietitian by year 2021 differs depending on the method used. First, according to the results based on age-adjusted population ratio, there is an oversupply of 1,643 dietitians in year 2010, and 2,076 dietitians in year 2020. Second, although the projection on the imbalance of the supply and demand for dietitian differs depending on whether the GDD is calculated in won(￦) or dollar($). it is expected that there will be an oversupply in general. Third, as to the scenario using the nutritionist ratio in foreign countries, the oversupply of dietitian is likely in Korea, under any scenario, when comparing the nutritionist supply projection with the demand projection based on the nutritionist ratio in the United States. However, the projection of the supply and demand varies in each scenario when the European nutritionist ratio is applied. Under European 'scenario 1', an oversupply is expected, whereas under 'scenario 2', a shortage of supply is expected. A careful approach is required in interpreting the supply and demand projection using criteria of other countries, because dietitian assumes different roles and functions in each country. Although a slight oversupply of nutritionist workforce is projected, it does not cause a major problem as the demand for diet therapy is expected to rise due to aging and the increase of chronic diseases, and as the demand for clinical dietitians in hospitals increases. Accordingly, the demand for dietitians will rise and, in this context, the oversupply of nutritionist will not incur much problem. However, the nutritionist qualification is much too open in Korea, and this has a negative effect on the quality of the nutritionist workforce. Therefore, it is important that the nutritionist qualifications and requirements are reinforced in the future, enhance the quality level of the nutritionist supply, and maintain the balance between the supply and demand.

• Childhood Kidney Diseases
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• v.5 no.2
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• pp.136-146
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• 2001

Purpose : One of the most difficult problems in the care of children with nephrotic syndrome remains the occurrence of relapses, despite initial response to steroids. Constantinescu reported that rapidity of initial response to steroid therapy could predict fewer relapses in the first year. So we evaluated the changes in serum lipid abnormalities in children with corticosensitive nephrotic syndrome before steroid treatment and the correlation between serum lipid levels and renal function, days to remission. Methods . We analyzed the Medical records of children who were managed by us between October 1994 and August 2000. In 33 patients with corticosensitive nephrotic syndrome, we evaluated the correlation between serum lipid levels and renal function [Creatinine clearance(Ccr)] and proteinuria before steroid treatment, and days to remission defined as the third day when the patient's urine becomes protein free. Results : There were 21 males and 12 females. Median age at presentation was 6.4 years (range: 1.8-17.3 years). Median days to remission were 15.4 days (range 4-42 days) on Prednisolone $60mg/m^2$ daily. The increased levels of triglyceride, total cholesterol, LDL cholesterol, apolipoprotein B, total cholesterol/HDL cholesterol, Lipoprotein(a) were observed. But the level of HDL cholesterol was not increased. Serum albumin was decreased a]id proteinuria was increased before steroid treatment. But Ccr was not decreased. There were negative correlation between serum albumin and total cholesterol (r = -0.5157, P<0.005), LDL cholesterol (r = -0.5543, P<0.005), total cholesterol/HDL cholesterol (r = -0.4506, P<0.01), lipoprotein(a) (r = -0.4570, P<0.025), apolipoprotein B (r = -0.5297, P<0.025), apolipoprotein B/apolipoprotein Al (r = -0.5851, P<0.01), apolipoprotein B/HDL cholesterol (r = -0.4961, P<0.05) before steroid treatment. There was no correlation between proteinuria and serum lipid profiles. Also Ccr and serum lipid profiles were not correlated. There was positive correlation between days to remission and HDL cholesterol (r = +0.4511, P<0.05), apolipoprotein B (r = +0.5190, P<0.05), apolipoprotein B/HDL cholesterol (r = +0.7169, P<0.005). Conclusions : This results reveal that HDL cholesterol, apolipoprotein B and apolipoprotein B/HDL cholesterol can be used as a predictive factor in corticosensitive nephrotic syndrome. We could not determine the significant level of these lipids for insufficient patients number, but these level may predict future relapses of corticosensitive nephrotic syndrome patients and thus may allow to better management and treatment protocols. More data and long term follow up studies should be needed. (J Korean Soc Pediatr Nephrol 2001;5 : 136-46)

• Tuberculosis and Respiratory Diseases
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• v.43 no.5
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• pp.671-682
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• 1996

Background : Endobronchial tuberculosis is definded as tuberculous infection of the tracheobronchial tree with microbiological and histopathological evidence. Endobronchial tuberculosis has clinical significance due to its sequela of cicatrical stenosis which causes atelectasis, dyspnea and secondary pneumonia and may mimic bronchial asthma and pulmanary malignancy. Method : The authors carried out, retrospectively, a clinical study on 201 patients confirmed with endobronchial tuberculosis who visited the Department of Pulmonary Medicine at Hangyang University Hospital from January 1990 10 April 1996. The following results were obtained. Results: 1) Total 201 parients(l9.5%) were confirmed as endobronchial tuberculosis among 1031 patients who had been undergone flexible bronchofiberscopic examination. The number of male patients were 55 and that of female patients were 146. and the male to female ratio was 1 : 2.7. 2) The age distribution were as follows: there were 61(30.3%) cases in the third decade, 40 cases(19.9%) in the fourth decade, 27 cases(13.4%) in the sixth decade, 21 cases(10.4%) in the fifth decade, 19 cases(9.5%) in the age group between 15 and 19 years, 19 cases(9.5%) in the seventh decade, and 14 cases(7.0%) over 70 years, in decreasing order. 3) The most common symptom, in 192 cases, was cough 74.5%, followed by sputum 55.2%, dyspnea 28.6%, chest discomfort 19.8%, fever 17.2%, hemoptysis 11.5%, in decreasing order, and localized wheezing was heard in 15.6%. 4) In chest X-ray of 189 cases, consolidation was the most frequent finding in 67.7%, followed by collapse 43.9%. cavitary lesion 11.6%, pleural effusion 7.4%, in decreasing order, and there was no abnormal findings in 3.2%. 5) In the 76 pulmanary function tests, a normal pattern was found in 44.7%, restrictive pattern in 39.5 %, obstructive pattern in 11.8%, and combined pattern in 3.9%. 6) Among total 201 patients, bronchoscopy showed caseous pseudomembrane in 70 cases(34.8%), mucosal erythema and edema in 54 cases(26.9%), hyperplastic lesion in 52 cases(25.9%), fibrous s.enosis in 22 cases(10.9%), and erosion or ulcer in 3 cases(1.5%). 7) In total 201 cases, bronchial washing AFB stain was positive in 103 cases(51.2%), bronchial washing culture for tuberculous bacilli in 55 cases(27.4%). In the 99 bronchoscopic biopsies, AFB slain positive in 36.4%. granuloma without AFB stain positive in 13.1%, chronic inflammation only in 36.4%. and non diagnostic biopsy finding in 14.1%. Conclusions : Young female patients, whose cough resistant to genenal antitussive agents, should be evaluated for endobronchial tuberculosis, even with clear chest roentgenogram and negative sputum AFB stain. Furthermore, we would like to emphasize that the bronchoscopic approach is a substantially useful means of making a differential diagnosis of atelectasis in older patients of cancer age. At this time we have to make a standard endoscopic classification of endobronchial tuberculosis, and well designed prospective studies are required to elucidate the effect of combination therapy using antituberculous chemotherapy with steroids on bronchial stenosis in patients with endobronchial tuberculosis.