RESUMO
We describe a novel, inherited 16q13 microdeletion that removes cholesteryl ester transfer protein (CETP) and several nearby genes. The proband was originally referred for severe childhood-onset obesity and moderate developmental delay, but his fasting lipid profile revealed relatively high levels of high density lipoprotein cholesterol (HDL-C) and relatively low levels of low density lipoprotein cholesterol (LDL-C) for age, despite his obesity. Testing of first-degree relatives identified two other microdeletion carriers. Functional assays in affected individuals showed decreased CETP mRNA expression and enzymatic activity. This microdeletion may or may not be pathogenic for obesity and developmental delay, but based on the lipid profile, the functional studies, and the phenotype of other patients with loss-of-function mutations of CETP, we believe this microdeletion to be antipathogenic for cardiovascular disease.
RESUMO
PURPOSE: In exstrophic anomalies the ultimate urological outcome largely depends on successful initial closure of the lower urinary tract and soft tissues. We believe that secure anterior pubic fixation is crucial for ensuring successful closure. After being dissatisfied with other methods of anterior pubic fixation we introduced the 3-loop method. The 3-loop technique and our experience with it are described. MATERIALS AND METHODS: In 2 years 7 consecutive cases of bladder exstrophy were closed using the 3-loop technique. Patient age at closure ranged from newborn to 9 years. RESULTS: In all 7 patients closure was successful and there was no cutting through of the wires, bony erosion, or erosion into the reconstructed bladder neck or urethra. The duration of postoperative traction was only 2 weeks. CONCLUSIONS: The 3-loop method is useful and reliable for secure anterior pubic fixation of the pubes in bladder exstrophy patients and it contributes positively to the ultimate urological outcome.
