• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.24-33
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• 2016

Mucopolysaccharidosis type VI (MPS VI) is a rare disease caused by the mutation of ARSB with prevalence range from 1/5,000 in northeast Brazil to 1/2,057,529 births in Czech Republic. In Asia, there is only one published figure in Taiwan of about 1/833,000 births. The exact prevalence in the Korean population is unknown, but we estimated the incidence of MPS VI is about 0.03/100,000 live births. Enzyme replacement therapy (ERT) with recombinant human Arylsulfatase B (rhASB) is a modality for the treatment of MPS VI that reduces the excretion of urine glycosaminoglycan (GAG) and improves joint motion, pulmonary function, and endurance. We presented the clinical features, molecular analysis and outcome of ERT in three Korean MPS VI patients. All patients had the typical characteristic clinical features of MPS IV. Short stature, dysostosis multiplex, corneal opacity and valvular heart disease were found at first presentation, while restrictive lung disease and carpal tunnel syndrome developed later in all patients. Molecular analysis demonstrated novel missense and nonsense mutation in the patients, including p.Ile 67Ser, p.Gly328Arg, $p.Arg191^*$, p.Asp352Asn, and p.Gly17Asp. After ERT, urine GAG was decreased in all patients. Skeletal involvement, corneal opacity, heart valve abnormalities and pulmonary function were not improved with ERT, but it had a better outcome on regarding joint motion and endurance. One patient underwent allogeneic bone marrow transplantation (BMT) prior to ERT, but their clinical response was not improved much after BMT. This study demonstrates clinical phenotypes and molecular analysis of the severe form of MPS VI in Korean patients.

• Pediatric Infection and Vaccine
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• v.5 no.1
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• pp.69-78
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• 1998

Purpose : The risk of severe tuberculous disease such as meningitis or miliary tuberculosis increases as younger is the child at the time of infection. Therefore, the early diagnosis and prompt treatment is mandatory for infants with tuberculosis. This study was undertaken to describe the epidemiology, clinical and radiographic manifestations, and response to therapy in infants with tuberculous disease. Methods : Medical records of 29 infants with tuberculosis diagnosed at the Seoul National University Children's Hospital from July, 1985, to April, 1997, were reviewed, retrospectively. A case of tuberculosis was confirmed if M. tuberculosis was isolated from any body site or if there was histologic proof of tuberculosis. Otherwise, the diagnoses were individualized considering history of contact with contagious adult case, clinical manifestations, chest X-ray findings, result of a Mantoux test reaction with 5 tuberculin unit of PPD, and the response to therapy. Results : The mean age at diagnosis was $7.00{\pm}2.65$ months (range, 3 to 12 months). Twelve cases had isolated pulmonary diseases, and the rest had pulmonary disease and meningitis, 5 cases; pulmonary disease and cervical lymphadenitis, 3; isolated meningitis, 3; and miliary tuberculosis, 6. Source case was identified in 19 cases, 7 of which were detected with retrograde manner. Twenty seven of 29 were symptomatic at their initial visit. The presenting symptoms were mainly respiratory or neurologic, and respiratory difficulty was accompanied in 7 cases. Physical examination revealed wheezing in 7 cases and decreased breath sounds in 9. Hepatomegaly or hepatosplenomegaly were frequent. Chest radiographs showed lung parenchymal disease with hilar lymphadenopathy in 18 cases, and focal or generalized emphysematous change in 7 cases. Conclusion : Most of the infants with tuberculosis are symptomatic at diagnosis, and many of infants with intrathoracic tuberculosis presented with symptoms of bronchial obstruction. When tuberculosis is suspected in an infant, the adult source case should be vigorously investigated to aid in diagnosis and for the prevention of further transmission of tuberculous disease. Almost half of infant tuberculosis are preventable if prophylaxis were given when adult cases were diagnosed.

• Journal of Korean Academy of Nursing
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• v.3 no.3
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• pp.1-14
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• 1973

This study is designed to meet the following objectives: (1) To study attitude and behavior regarding marriage and age at marriage, (2) To learn correlates of age at marriage and to examine their relations, (3) To measure relative importance of the correlates of age at marriage, and (4) To study relations of age at marriage and family planning practice to fertility and their relative importance as correlates of fertility. The data are obtained by an independent cross-sectional survey in three study areas purposively selected to represent metropolitan. semihuman. rural population. The study population is confined to women age 17-50 as of survey. The overall response rate is 90%. Reliability of data is measured by . individual and aggregate inconsistency based upon a 15% subsample of the original interviews. The individual inconsistency (31%) is found to be high compared to the aggregate inconsistency (6%) for all 85 variables. However, the magnitude of differences between means is small, and the mean absolute shifts and proportional shifts are also small on the whole. In a word respondents did not change their answers too extremely or radically. The study populations of each study area are compared on some basic characteristics. It is found that the three study populations have more dissimilarities than similarities. The findings on seven different attitudinal positions of women toward marriage indicate that there have been tremendous changes in all study areas Iron "traditional" attitudes which have been prevalent for a long time in Korean society to "liberalized" or "modernized" attitudes. An apparent tendency is that women generally take a position of a "golden mean" attitude by not preferring either extreme of marriage attitudes. Nevertheless, the young, single, educated, and urbanite appears more "liberalized. " There has been some increase in ideal age at marriage from 1958 to 1970 for both sexes. No age group, marital status, or study area differentials in ideal age at marriage are found, the average ideal age at marriage in every sub-group being 24-25. Awareness of existing legal marriageable ages is low; only 4.4% are aware that "with parental permission: minimum age for males is 18 years and for females 16 years,"and only 3.7% are aware that "without parental permission: 27 years for males and 23 years for females." People in Korra tend to marry spouses who are in various social ways like themselves: the similarities include (a) education, occupational status of father, (c) economic status, (d) usual residence before marriage, and (e) religion. Both singulars and actual mean ages at marriage in this study confirm the trend of rising age at marriage previously established by other independent studies. The urban-rural differential in age at marriage is observed, but the differential narrows down gradually from 1935 to 1970. All socio-economic, demographic, and other variables pertaining to wife before and at first marriage, excluding (a) religion, (b) father′s of occupation, and (c) as: of menarche, are correlated with respondent's age at first marriage, whereas only three variables out of all socio-economic variables relating to husband before and at wife′s first marriage, viz., (a) education, (b) usual residence, and (c) economic level of his old home, are correlated with respondent′s age at marriage. Among socio-economic and modernity variables related to either husband or wife at the time of survey, only education and duration of residence are correlated with wife′s age at first marriage. Among the correlates of respondent′age at first marriage, education is in general the most important variable. However, it is found that wife′s education is more important than husband′s. The combined effects or the correlates studied explain no more than about 40% of variance for any of the selected groups of variables. Points which might counteract the effects of late marriage on fertility are not serious in Korea. For each of the correlates of the three fertility indices chosen for this study. namely, (a) number of living children, (b) number of live births, and (c) number of pregnancies, age at marriage is the major contributor to the variance in all age groups except the age group of 20-29 in which the index of family planning practice is the major contributor. The proportion of variability in fertility indices accounted for by the correlates is never more than 40% of the total variance in any age group. Based upon the findings from this study, it could be concluded that in the foreseeable future (a) celibate group will no! be increased to a point that would slow down population growth rate in Korea, (b) age at marriage will not increase continually, (c) although education stands out as the major contributing variable which independently explains the variation in age at marriage, it seems probable that education may not be the major variable in the near future, and (d) despite the fact found by this study that age at marriages has been the major contributor to the variance of each of the fertility indices used, family planning practice will play a more important role in the reduction of fertility in the Korean society. Therefore, factors interrupting practice of family planning must be eliminated and family planning program should be strengthened if further fertility reduction is needed.

• Clinical and Experimental Pediatrics
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• v.50 no.7
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• pp.672-677
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• 2007

Purpose : To assess the prevalence and characteristics of headache comorbidity with epilepsy in children and adolescents in a specialty epilepsy clinic. Methods : Two hundred twenty nine consecutive patients attending the Chosun University Hospital Pediatric Epilepsy Clinic (mean age $10.0{\pm}4.1\;years$, range 4-17, M:F ratio 1.1:1.0) were interviewed with a standardized headache questionnaire. Headache was classified according to the International Classification of Headache Disorders, 2nd Edition and epilepsy was classified according to the International League Against Epilepsy. Disability was assessed using pediatric migraine disability assessment (PedMIDAS). Results : Of the 229 epilepsy patients, 86 (37.6%) had co-morbid headache. Of the headache patients, 64 (74.4%) had migraine (65.6%- migraine without aura, 20.3% - migraine with aura, 14.1% - probable migraine). The mean headache frequency was $7.2{\pm}8.4$ per month, mean duration was $2.2{\pm}4.0$ hours, mean severity was $5.2{\pm}2.2$ out of 10, and mean PedMIDAS score was $13.0{\pm}35.4$. The proportion of females was not higher in epilepsy with headache patients (48.8%) compared to epilepsy patients alone (48.0%). In the patients with migraine, 48.4% had complex partial seizures, 17.2% had simple partial seizures, and 34.4% had generalized seizures (P=0.368). A postictal association of migraine was reported in 18.8% with 17.2% reporting a preictal headache, and 7.8% reporting an ictal headache. Conclusion : The prevalence of headache in pediatric epilepsy is higher than that in general pediatric population, suggesting a co-morbidity of headache in epilepsy patients with migraine being the most frequent headache disorder. Altered cerebral excitability resulting in an increased occurrence of spreading depression may explain the headache comorbidity with epilepsy. Further studies are needed to assess the etiology of this co-morbidity as well as assess the frequency, duration, severity and disability response to antiepileptic drugs.

• Clinical and Experimental Pediatrics
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• v.52 no.11
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• pp.1241-1248
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• 2009

Purpose:The etiology of Kawasaki disease (KD) is still unknown. Recently, an association between human coronavirus NL63 (HCoV-NL63) and KD was implicated. Hence, we attempted to determine the association between KD and acute respiratory viral infections. Methods:Nasopharyngeal aspirate samples were obtained from 54 patients diagnosed with KD at the Seoul National University (SNU) Children's Hospital and SNU-Bundang Hospital between October 2003 and September 2006. Viral diagnoses of 11 respiratory viruses were made using multiplex reverse transcriptase-polymerase chain reaction (RT-PCR): respiratory syncytial virus (RSV), adenovirus, rhinovirus (RV), parainfluenza viruses (PIVs) 1 and 3, influenza viruses (IFVs) A and B, human metapneumovirus (HMPV), human bocavirus (HBoV), HCoV OC43/229E, and HCoV-NL63. Clinical data were reviewed retrospectively. Results:The median age was 32 months (6 months-10.4 years). Respiratory symptoms were observed in 37 patients (69%). The following respiratory viruses were identified in 12 patients (22%): RV (n=4), PIV-3 (n=2), HBoV (n=2), and adenovirus, RSV, PIV-1, IFV-A, and HCoV-NL63 (n=1). Co-infection with PIV-3 and RV was observed in one patient. Respiratory symptoms were observed in 7 (58.3%) and 30 (71.4%) patients of the virus-positive and virus-negative groups (P>0.05). Response rate to intravenous immunoglobulin administration was 67% (n=8) and 86% (n=36) in the virus- positive and virus-negative groups (P>0.05). Conclusion:Respiratory symptoms were commonly observed in KD patients but the association between respiratory viruses and KD were not found. Large multicenter-based investigations are required to confirm the association between acute respiratory viral infections and KD.