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ABSTRACT: X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations in the MID1 gene which encodes a microtubule-associated RING-Bbox-Coiled-coil (RBCC) protein. We recently found a four-year Korean male patient who was suspected of having XLOS. Mutation analysis of the MID1 gene in the patient and his mother demonstrated that the patient had a novel insertion mutation (c.1798_1799-insC), and his mother was a heterozygous carrier of the mutation. After identification of the causative mutation in this family, prenatal diagnosis of two consecutive fetuses were successfully undertaken. This is the first report on a genetically confirmed case of XLOS in Korea.
Journal of Korean Medical Science 11/2006; 21(5):790-3. · 0.99 Impact Factor
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ABSTRACT: An association between obesity and asthma has been reported. The prevalence of airway hyperresponsiveness (AHR), results of skin prick tests, body mass index (BMI), and asthma symptoms were examined in schoolchildren.
The results of BMI (kg/m2) determination, skin prick testing, spirometry, asthma questionnaires, and methacholine challenge tests were obtained in a cross-sectional survey of 667 schoolchildren. The methacholine concentration causing a 20% fall in FEV1 (PC20) was used as the threshold of AHR. If the PC20 was less than 16 mg/mL, the subject was considered to have methachloine mediated AHR.
The mean BMI was 17.1 +/- 0.09 kg/m2. The prevalence of AHR was 42.70%. The sensitization rate to common inhalant allergens was 30.3%. PC20 in children with BMIs > or = 17.1 kg/m2 was significantly lower than that in children with BMIs 17.1 kg/m2. The mean BMIs of boys and girls were not significantly different. The levels of PC20 by sex were not different. The children were grouped by sex into percentile of BMI. PC20 in boys was lower in the obese group than in the non-weight and overweight groups (p<0.05). PC20 in boys and girls with atopy was significantly lower than in those without atopy. In a multiple logistic regression model that included all of the children and adjusted for confounding variables, independent associations with AHR were seen with BMI, asthma symptoms, and atopy.
BMI had an association with AHR in school-age boys.
The Korean Journal of Internal Medicine 04/2006; 21(1):10-4.
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ABSTRACT: This study was aimed to evaluate the prevalence of soy protein hypersensitivity in cow's milk protein-sensitive children in Korea. A total of 1,363 patients with atopic dermatitis, urticaria, enterocolitis syndrome, bronchial asthma or allergic rhinitis were recruited. First, we estimated the prevalence of sensitization to soy in children sensitized to cow's milk. Specific IgE levels > 0.7 kU/L by CAP assay were considered positive. Next, the prevalence of soy allergy in cow's milk allergy (CMA) patients was investigated. Those children whose parents agreed to participate the open challenge test with soy had a convincing history of allergic reactions elicited by cow's milk and these symptoms were relieved by elimination. All of them had negative soy-specific IgE. Patients with positive soy-specific IgE accounted for 18.3% of 224 children sensitized to cow's milk protein. The prevalence of sensitization to soy decreased with age (36.8% in the first year of life, 16.4% in the second year, and 13.7% in the third year). Of 21 CMA patients, 42.9% (n=9) were determined to have soy allergy (mean age 10.3 months). Our results suggest that soy protein formula should be carefully used as a substitute for cow's milk in CMA patients, especially during infancy.
Journal of Korean Medical Science 08/2003; 18(4):473-7. · 0.99 Impact Factor
