Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome / 소아과

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.

Change in Quality of Life according to the Change in Atopic Dermatitis Severity / 소아알레르기및호흡기학회지

PURPOSE: The aim of this study was to longitudinally examine the correlation between the change of atopic dermatitis (AD) severity and the change of quality of life (QOL). METHODS: We assessed AD severity and QOL of patients and their families, by a prospective followed up for at least 12 months. AD severity was assessed, using the scoring of atopic dermatitis (SCORAD) index. A questionnaire based on dermatitis family impact (DFI), infants' dermatologic quality of life (IDQoL) and children's dermatology life quality index (CDLQI) were used to determine QOL. RESULTS: Seventy-nine AD patients were assessed for total and objective SCORAD and DFI. Among them, 45 patients that were less than 36 months old completed IDQoL and 13 patients that were equal to or more than 36 months old completed CDLQI. Objective SCORAD (oSCORAD) were correlated with DFI (r=0.235), IDQoL (r=0.602) and CDLQI (r=0.589) (P<0.05). At the 2nd interview, median oSCORAD (from 17.4 to 7.8), DFI (from 23.0 to 18.0) and IDQoL (from 9.0 to 6.0) were significantly decreased (P<0.01). The changes of oSCORAD were linearly related with the change of IDQoL (P<0.01), but neither with DFI (P=0.356) nor with CDLQI (P=0.267). Of the 64 patients with decreased oSCORAD, food allergy was accompanied more frequently in those with an increased DFI than those with a decreased DFI (60.7% vs. 27.8%, P<0.01). CONCLUSION: In this longitudinal study, the improvement of AD severity is correlated with the improvement of the patient's QOL, under the age of 3. To improve the family's QOL, we need to find out accompanying factors, such as food allergy, and to support the family accordingly.

Prevalence of Atopic Dermatitis in Korea: Analysis by Using National Statistics

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.

Prevalence and Risk Factors of Asthma and Allergic Rhinitis in Elementary School Children in Jinan-Gun / 소아알레르기및호흡기학회지

PURPOSE: The aim of this study was to evaluate the prevalence and risk factors associated with asthma and allergic rhinitis in rural elementary school children. METHODS: Children in 12 elementary schools in Jinan-gun, Jeollabuk-do, a typical rural area in Korea, were enrolled. We conducted cross-sectional survey using a Korean version of International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire. RESULTS: A total of 947 questionnaires out of 1,062 were completed and the response rate was 89.1%. The symptom prevalence of asthma and allergic rhinitis (AR) in the last 12 months was 7.4% and 28.1%. The prevalence of physician-diagnosed asthma and AR was 7.2% and 22.2%. Male, passive smoking, visible mold at home, and use of antibiotics during infancy more than 3 times were associated with higher prevalence of asthma diagnosis (adjusted odds ratio [aOR] 2.35, 95% confidence interval [CI] 1.30 to 4.26; aOR 2.49, 95% CI 1.38 to 4.48; aOR 2.19, 95% CI 1.23 to 3.89; and aOR 8.45, 95% CI 4.23 to 16.59). Parental history of allergic diseases, children without siblings, use of antibiotics during infancy more than 3 times were associated with higher prevalence of AR (aOR 4.89, 95% CI 3.37 to 7.10; aOR 5.20, 95% CI 2.38 to 11.35; and aOR 2.39, 95% CI 1.36 to 4.19). CONCLUSION: In Jinan-gun, the symptom prevalence of asthma and AR in the last 12 months was 7.4% and 28.1%. The environmental factors such as passive smoking, visible mold at home, use of antibiotics during infancy and number of siblings are associated with asthma and allergic rhinitis.

Natural Course of Cow's Milk Allergy in Children with Atopic Dermatitis

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 to114 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.

The clinical effects of hospitalization in a low pollutant room on atopic dermatitis

BACKGROUND: Environmental pollutants are thought to be one of major triggers of atopic dermatitis (AD). OBJECTIVE: We attempted to evaluate the clinical effects of environment with low indoor pollutant levels on AD management. METHODS: Fifty-one children (mean age 1.7 years) with moderate to severe AD who failed to show improvement with conventional management were recruited. Disease severity was assessed by SCORAD (Scoring of AD) indices. They were admitted in a low pollutant oom for 3-4 days (mean 3.3 days) which was designed to keep low levels of dust, house dust mites, micro-organisms, and indoor air pollutants such as total volatile organic compounds (TVOCs), particulate matter (PM), and so on. Air pollutant levels in the low pollutant room were lower than primary standards defined by the Korean Ministry of Environment. we compared disease severity on admission and after discharge, and the pollutant levels of each patient's home and low pollutant room. RESULTS: The SCORAD was significantly reduced from 42.0 ± 11 .5 to 29.8 ± 8.9 (p < 0.001) by management in a low pollutant room. PM₂.₅, PM₁₀, formaldehyde, TVOCs, carbon dioxide, bacterial suspensions, and indoor molds were significantly higher in the patient's home than low pollutant room. Out of 29 patients who deteriorated after discharge to their home, 8 patients were admitted again, and their SCORAD was rapidly decreased from 53.1 ± 16.2 to 39.2 ± 9.8 (p = 0.036). CONCLUSION: Indoor air pollutants are likely to affect AD in susceptible individuals. Environmental control to lower indoor air pollutant levels might be necessary for better management of AD in some patients.