[Show abstract][Hide abstract] ABSTRACT: CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choanae, growth retardation, genital hypoplasia, and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene, located on chromosome 8q12.1, causes CHARGE syndrome. The CHD7 protein is an adenosine triphosphate (ATP)-dependent chromatin remodeling protein. A total of 67% of patients clinically diagnosed with CHARGE syndrome have CHD7 mutations. Five hundred twenty-eight pathogenic and unique CHD7 alterations have been identified so far. We describe a patient with a CHARGE syndrome diagnosis who carried a novel de novo mutation, a c.3896T>C (p. leu1299Pro) missense mutation, in the CHD7 gene. This finding will provide more information for genetic counseling and expand our understanding of the pathogenesis and development of CHARGE syndrome.
Korean Journal of Pediatrics 01/2014; 57(1):46-9. DOI:10.3345/kjp.2014.57.1.46
[Show abstract][Hide abstract] ABSTRACT: We attempted to investigate the prevalence of atopic dermatitis (AD) in Korea by using national statistics. Data on AD patients who received medical service at least once a year from 2003 through 2008 were collected from health insurance research team of National Health Insurance Corporation. Data of estimated populations during the same period were obtained from the Statistics Korea. In 2008, the prevalence of AD was 26.5% in aged 12-23 months and decreased substantially to 7.6% at age 6 yr, 3.4% at age 12 yr and to 2.4% at age 18 yr. In males, the prevalence was higher than females until 2 yr of age, while the opposite was shown in children aged 2 yr or older. In children aged less than 24 months, the prevalence of AD has increased from 19.8% to 23.8% between the years 2003 and 2008, while the prevalence showed no increase in the older age group. In conclusion, the prevalence of AD in 2008 peaked during infancy up to 26.5% and decreased thereafter. Our findings also suggest that increasing prevalence of AD in children less than 24 months might be responsible for the recent increase in the prevalence of AD in Korean children.
Journal of Korean medical science 06/2012; 27(6):681-5. DOI:10.3346/jkms.2012.27.6.681 · 1.27 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Cow's milk is one of the most common food allergens in children with atopic dermatitis (AD). This study was conducted to describe the natural course of cow's milk allergy in children with AD, and to identify factors predictive of outcome. To accomplish this, we reviewed the medical records of 115 children who were diagnosed with AD and cow's milk allergy before 24 months of age to evaluate their clinical characteristics and prognostic factors. During a follow-up period of 24 to 114 months, the median age for tolerance to cow's milk was found to be 67 months. Multivariate analysis using the Cox proportional hazard model revealed that the peak cow's milk-specific IgE level within 24 months after birth was the most important factor for prediction of the outcome of cow's milk allergy. In conclusion, half of the children younger than 24 months of age with AD and cow's milk allergy could tolerate cow's milk at 67 months of age. The peak cow's milk-specific IgE level within the first 24 months of birth is useful to predict the prognosis of cow's milk allergy in children with AD.
Journal of Korean medical science 09/2011; 26(9):1152-8. DOI:10.3346/jkms.2011.26.9.1152 · 1.27 Impact Factor