PURPOSE: We investigated the number of test takers of the Korean-Developmental Screening Test (K-DST) in a single children's hospital within a year, according to age, referral rate, and follow-up percentage. METHODS: For this study, 4,062 children who visited and received K-DST at Woorisoa Children's Hospital between January and December 2015 were enrolled. Seven test sets were used according to the Korean National Health Screening Program for infants and children in the following age groups: 4 to 6, 9 to 12, 18 to 24, 30 to 36, 42 to 48, 54 to 60, and 66 to 71 months. The results of the K-DST were categorized into 4 groups as follows: further evaluation (<−2 standard deviation [−2SD]), follow-up test (−2SD to −1SD), peer level (−1SD to 1SD), and high level (>1SD). RESULTS: The test participants' population and follow-up population were concentrated before the age of 24 months (2,532, 62.3%). The children most commonly referred for further evaluation were those in the 30- to 41-month age group. A mismatch was found between the results of the K-DST and the additional questions. Most of the infants and children with suspicious developmental delays showed catch-up development in their follow-up tests (43 of 55, 78.2%). CONCLUSION: The use of K-DST should be encouraged, especially among children aged over 24 months. Multiple-choice question format for the additional questions is recommended to avoid confusion. We suggest a nationwide study to evaluate and revise the K-DST.
Child* ; Follow-Up Studies ; Humans ; Infant* ; Korea ; Mass Screening* ; Referral and Consultation

CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Clinical features of CHARGE syndrome considerably overlap those of 22q11.2 deletion syndrome. Of these features, immunodeficiency and hypocalcemia are frequently reported in patients with 22q11.2 deletion syndrome but are rarely reported in patients with CHARGE syndrome. In this report, we have described the case of a patient with typical phenotypes of 22q11.2 deletion syndrome but without the proven chromosome microdeletion. Mutation analysis of CHD7 identified a pathogenic mutation (c.2238+1G>A) in this patient. To our knowledge, this is the first case of CHARGE syndrome with immunodeficiency and hypocalcemia in Korea. Our observations suggest that mutation analysis of CHD7 should be performed for patients showing the typical phenotypes of 22q11.2 deletion syndrome but lacking the proven chromosome microdeletion.
CHARGE Syndrome* ; Consensus ; DiGeorge Syndrome ; Ear ; Growth and Development ; Heart ; Humans ; Hypocalcemia* ; Korea ; Nasopharynx ; Phenotype

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result of mutations in the VPS33B (Vacuolar protein sorting 33 homolog B) or VIPAR (VPS33B interacting protein, apical-basolateral polarity regulator) genes. A female infant presented with neonatal cholestasis with a severe clinical outcome. She was diagnosed with ARC syndrome using targeted exome sequencing (TES). Exome sequencing revealed compound heterozygous mutations, c.707A>T and c.239+5G>A, in VPS33B, where c.707A>T was a novel variant; the resultant functional protein defects were predicted via in silico analysis. c.239+5G>A, a pathogenic mutation that affects splicing, is found in less than 0.1% of the general population. Invasive techniques, such as liver biopsies, did not contribute to a differential diagnosis of ARC syndrome; thus, early TES together with clinical presentations constituted an apparently accurate diagnostic procedure.
Biopsy ; Cholestasis ; Computer Simulation ; Diagnosis, Differential ; Exome ; Female ; Humans ; Infant ; Kidney ; Liver ; Musculoskeletal System ; Protein Transport ; Skin

BACKGROUND: Despite daily vitamin D recommendations, women with osteoporosis may not achieve optimal 25-hydroxy-vitamin D (25[OH]D) levels. We retrospectively evaluated the effect of education and vitamin D supplementation (1,000 IU/day) in Korean women with osteoporosis. METHODS: Sixty-one women with osteoporosis who were taking cholecalciferol (800–1,000 IU/day) were enrolled during 2011 to 2012. Forty patients (education only, Edu group) were educated on the importance of >30 min sunlight exposure daily while taking vitamin D. Twenty-one patients (education with vitamin D supplementation, Add group) were prescribed 1,000 IU/day cholecalciferol (total 1,800–2,000 IU/day) plus education. Patients were divided into 3 groups according to serum 25(OH)D status: deficiency (<20 ng/mL), insufficiency (20–30 ng/mL), and sufficiency (≥30 ng/mL). Furthermore, 25(OH)D levels were compared at baseline and after intervention for 3 months. RESULTS: The median (interquartile range) serum 25(OH)D concentration at baseline was 25.10 (18.95–33.60) ng/mL. The mean (±standard error) differences in 25(OH)D levels from baseline to post-intervention were 19.85±3.86 and 31.73±4.82 ng/mL in the Edu group and Add group, respectively. Eighteen patients (29.5%) had vitamin D deficiency, 25 (41.0%) had insufficiency, and 18 (29.5%) had sufficient levels. Optimal 25(OH)D (30 ng/mL or more) was achieved in 54.5% and 95.2% patients in the Edu group and Add group, respectively (P=0.003). CONCLUSIONS: We consider that vitamin D concentration should be measured on a regular basis in order to maintain an optimal level of vitamin D concentration, and education and supplementation is needed if not sufficient.
Cholecalciferol ; Education ; Female ; Humans ; Osteoporosis ; Postmenopause ; Retrospective Studies ; Sunlight ; Vitamin D Deficiency ; Vitamin D ; Vitamins

OBJECTIVE: The purpose of the current study was to compare the circulating levels of visfatin between women with polycystic ovary syndrome (PCOS) and those without PCOS and to assess the correlations between visfatin levels and various parameters. METHODS: This case-control study recruited 74 PCOS patients and 74 age- and body mass index (BMI)-matched controls. Serum visfatin levels were evaluated using the enzyme-linked immunosorbent assay. Women with PCOS were divided into 2 subgroups based on the presence of clinical or biochemical hyperandrogenism. The possible differences in serum visfatin levels between the hyperandrogenic and non-hyperandrogenic groups were also assessed. RESULTS: Visfatin levels in PCOS patients were similar to those in the controls. However, hyperandrogenic patients had significantly higher mean serum visfatin levels than those in non-hyperandrogenic patients (3.87 ng/mL; 95% confidence intervals [CIs], 3.09–4.85 in hyperandrogenic group vs. 2.69 ng/mL; 95% CIs, 2.06–3.52 in non-hyperandrogenic group; P=0.038). In women with PCOS, visfatin levels positively correlated with BMI (r=0.23; P=0.047) and the log free androgen index (FAI) (r=0.27; P=0.021) and negatively correlated with high-density lipoprotein (HDL) cholesterol levels (r=−0.37; P=0.025). Except for HDL cholesterol levels, these correlations were also observed in controls. CONCLUSION: Visfatin levels in PCOS patients were similar to those in the controls. However, hyperandrogenic patients showed significantly higher serum visfatin levels than those of non-hyperandrogenic patients, and visfatin had a positive linear correlation with FAI in both PCOS patients and controls.
Body Mass Index ; Case-Control Studies ; Cholesterol ; Cholesterol, HDL ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Hyperandrogenism ; Lipoproteins ; Nicotinamide Phosphoribosyltransferase* ; Polycystic Ovary Syndrome*