A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene / 소아과

Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the short arm of chromosome 4. A definite diagnosis should be established by molecular genetic analysis to find out the abnormal mutations in the FGFR3 gene. We confirmed by detection of a R248C mutation in the FGFR3 gene in DNA analysis.

Clinical Availability of Serum Procalcitonin in Children with Bacterical Infection / 소아감염

PURPOSE: The aim of this study was to identify clinical availability of serum procalcitonin (PCT) compared with C-reactive protein (CRP) in prediction of bacterial infection in children. METHODS: A retrospective study was conducted with children who had been admitted to the Department of Pediatrics with bacterial and viral infection between April 2008 and March 2009 and children who were admitted with Juvenile rheumatoid arthritis (JRA) between August 2007 and July 2009. Serum PCT levels were measured using an enzyme-linked fluorescent assay. RESULTS: The study population included 10 patients with bacterial infection (group I), 69 with viral infection (group II), and 35 with JRA (group III). Mean PCT levels were significantly higher in group I than in group II or group III (P0.05). Using a cutoff of 0.5 ng/mL for PCT and 8 mg/L for CRP, sensitivity and specificity in distinguishing between group I and the other groups were 60.0% and 92.3% for PCT and 60.0% and 40.1% for CRP, respectively. Positive and negative predictive values were 42.9% and 96.0% for PCT and 10.0% and 92.6% for CRP, respectively. CONCLUSION: Measurement of PCT concentrations appears to be more useful than CRP for distinguishing between bacterial infection and non-bacterial diseases in children.