A Case of Split Hand Split Foot Malformation Associated with Pericentric Inversion of Chromosome 9 / 대한주산의학회잡지

Split hand split foot malformation (SHFM) is a human developmental disorder characterized by a deep median cleft in the hands and feet, missing digits, and fusion of the remaining digits. The disease itself is considered to be very rare, affecting one out of 90,000 newborn babies. SHFM is genetically heterogeneous. To date, five SHFM loci have been mapped, to chromosome 2, 3, 7, 10 and X, respectively. We experienced a case of SHFM in a male neonate who had lobster-claw deformities of the hands and feet. The karyotype of his chromosome was 46,XY,inv (9) (p12q13). We report the case with the review of the associated literatures.

Increased Serum Endothelin (ET) -1 in Children with Mycoplasma pneumoniae Pneumonia / 소아알레르기및호흡기학회지

PURPOSE: Mycoplasma pneumoniae frequently causes lower respiratory illnesses in children, and is known to be associated with acute wheezing and the exacerbation of asthma. However, the mechanism by which this pathogen contributes to the development of wheeze- related symptoms is not fully understood. Previous studies have shown that ET-1 is a potent bronchoconstrictor and implicated in the pathogenesis of bronchial asthma. The aim of our study was to examine the serum ET-1 and other cytokines in M. pneumoniae pneumonia and investigate if there is any difference in relation to the presence of wheezing. METHODS: Patients admitted with pneumonia were divided into three groups: M. pneumoniae pneumonia with wheeze (group 1) and without wheeze (group 2), and patients with pneumonia due to other pathogens (group 3). The serum levels of ET-1, IL-18, IL-5 were measured by ELISA in patient groups and controls. RESULTS: Serum ET-1 increased significantly in the patients with M. pneumoniae pneumonia (groups 1 and 2) compared with group 3 and controls. ET-1 in group 1 was significantly higher than in group 2. IL-5 and IL-18 were higher in patient groups than in controls with no difference between groups. Serum total IgE was significantly higher in group 1 than in group 2. A positive correlation was observed between serum ET-1 and total IgE. CONCLUSION: Our results suggest that ET-1 may be implicated in the pathogenesis of bronchoconstriction and allergic inflammation in the airways of the patients with M. pneumoniae pneumonia.