A Cost-benefit Analysis on Neonatal Screening of Phenylketonuria and Congenital Hypothyroidism in Korea / 소아과

PURPOSE: Many inborn errors of metabolism can be completely cured with early detection and early treatment. This is why neonatal screening on inborn errors of metabolism is implemented worldwide. In this study, a cost-benefit analysis was performed on the neonatal screening of phenylketonuria and congenital hypothyroidism in Korea. METHODS: This study included 2,908,231 neonates who took the neonatal screening on phenylketonuria and congenital hypothyroidism in Korea from January 1991 to December 2003. From those neonates, the incidence rates of phenylketonuria and congenital hypothyroidism were measured. Furthermore, based on 495,000 babies born in 2002, were calculated and compared the total costs in case when neonatal screening on phenylketonuria and congenital hypothyroidism is implemented, and when not. RESULTS: If the neonatal screening on phenylketonuria and congenital hypothyroidism is implemented, benefits far exceed costs at a ratio of 1.77:1 in phenylketonuria, and 11.11:1 in congenital hypothyroidism. In terms of wons, the present neonatal screening on phenylketonuria and congenital hypothyroidism will gain us more than 29 billion wons every year. CONCLUSION: This study only concerns the monetary aspects of the neonatal screening. Therefore, the benefits of the neonatal screening is underestimated by ignoring precious but not measurable values such as quality of life. However, the present neonatal screening on phenylketonuria and congenital hypothyroidism is found to be beneficial and should continue for the good of the nation as well as that of the patients.

A Case of Basaloid Squamous Cell Lung Carcinoma in an 11-year-old Boy / 소아과

Primary lung cancer is unusual in children; the squamous cell variant is extremely rare. Lung cancer is classified by histologic types into small-cell lung cancer, non-small cell lung caner, carcinoid, mucoepidermoid carcinoma, and adenoid cystic carcinoma. Furthermore, non-small cell lung cancer is subclassified into adenocarcinoma, large-cell carcinoma, and squamous cell carcinoma. The incidence of lung cancer is influenced by smoking, especially in squamous cell carcinoma, and large cell carcinoma. The present treatments for these tumors are chemotherapy, radiation therapy, and surgical resection depending on their histologic types or stages, but yield very poor survival rates. In this article, we report a case of basaloid squamous cell lung carcinoma in an 11-year-old boy who had symptoms of both leg weakness and back pain radiating to both legs. We confirmed the primary lung carcinoma cells by percutaneous transthoracic needle biopsy. The metastatic carcinoma cells were identified at the bone marrow and lumbar spine. We treated with a combination chemotherapy and radiation therapy. However, he expired 4 months after the onset of disease.

Comparative Study between Bayley Scales of Infant Development-II and Korean Infant and Child Developmental Test in Infants Younger than 12 Months / 대한소아신경학회지

PURPOSE: Currently, there are many developmental tests of scale and screening for infants and children. However, it has been questioned about the discriminating power and the correlation among developmental tests of scale and screening. So we comprared the Bayley Scales of Infant Development-II(BSID-II) and Korean Infant and Child Developmental Test(KICDT) in terms of correlations and agreement. METHODS: Seventy two infants were studied, who visited the pediatric outpatient clinic at Cheonan Soonchunhyang University Hospital between December 2002 and September 2003. They were classified into three groups, group A of 24 full term infants, group B of 24 preterm infants, and group C of 24 disabled full term infants. We performed both tests to the all infants. RESULTS: The mean scores of mental and psychomotor developmental indices of BSID-II of group A were higher than those of group B and group C, which was statistically significant. Also, the mean scores of personal-social, language and cognitive- adaptive fields of KICDT of group A were much higher than those of group B and group C. The correlation coefficients between BSID-II and KICDT were high in many indices. The kappa coefficient by Cohen between BSID-II and KICDT is 0.45(0.24-0.66). CONCLUSION: There was a reasonable corrrelation between BSID-II and Korean infant and child developmental test in infants younger than 12 months. The kappa coefficient by Cohen between BSID-II and KICDT is not so good in this study. Further study is needed to standardize the items of KICDT.

A Case of Familial Moyamoya Disease: A Case in Brother and Sister / 대한소아신경학회지

Moyamoya disease is a progressive and occlusive disorder of the cerebral vasculature with particular involvements of the circle of Willis and the arteries that feed it. It occurs commonly in Japan and Korea, but less frequently in the Western countries. The etiology of moyamoya disease is still unclear, but frequent familial occurrence suggests that some genetic factors may be important in its etiology. Approximately 7-10% of moyamoya disease are familial. We experienced 2 siblings with moyamoya disease, and report the case with a review of previously published cases of moyamoya disease within a family.

Allele Distribution and Frequency of Human Surfactant Protein-A2 in Korean Neonates

PURPOSE: We evaluated allele frequencies and distribution of surfactant protein A2(SP-A2) in Korean neonates in order to estimate the prevalence of RDS, to find out new SP-A alleles, and to establish new steroid therapy. METHODS: Genomic DNA was extracted from 71 neonates and served as a template in PCR for genotype analysis. SP-A gene-specific amplications and gene-specific allele determinations were performed using PCR-cRFLP methods. RESULTS: The distribution for the alleles of the SP-A2 gene in the study population was 1A, 1A0, 1A1, 1A2, 1A3, 1A5, 1A6, 1A7, 1A8, 1A9, 1A11, 1A12. The specific frequencies for the alleles of the SP- A2 gene in the study population were : 1A=11.3%, 1A0=38%, 1A1=12.7%, 1A2=9.2%, 1A5=15.5%, 1A7= 2.9%, 1A8=4.9%, 1A9=2.2%, others=3.3%. CONCLUSION: The frequency of 1A0 was higher than the other SP-A2 alleles in Korean neonates. This finding suggests that the prevalence of RDS in Korea may be low compared with other countries. However, this finding also suggests that Korean neonates have a high risk of infection.