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Common multi-allelic copy number variants (CNVs) appear enriched for phenotypic associations compared to their biallelic counterparts. Here we investigated the influence of gene dosage effects on adiposity through a CNV association study of gene expression levels in adipose tissue. We identified significant association of a multi-allelic CNV encompassing the salivary amylase gene (AMY1) with body mass index (BMI) and obesity, and we replicated this finding in 6,200 subjects. Increased AMY1 copy number was positively associated with both amylase gene expression (P = 2.31 × 10(-14)) and serum enzyme levels (P < 2.20 × 10(-16)), whereas reduced AMY1 copy number was associated with increased BMI (change in BMI per estimated copy = -0.15 (0.02) kg/m(2); P = 6.93 × 10(-10)) and obesity risk (odds ratio (OR) per estimated copy = 1.19, 95% confidence interval (CI) = 1.13-1.26; P = 1.46 × 10(-10)). The OR value of 1.19 per copy of AMY1 translates into about an eightfold difference in risk of obesity between subjects in the top (copy number > 9) and bottom (copy number < 4) 10% of the copy number distribution. Our study provides a first genetic link between carbohydrate metabolism and BMI and demonstrates the power of integrated genomic approaches beyond genome-wide association studies.

Purpose: Renal artery variations are important for clinical reasons. The aim of this study is to determine the originating level and variations of renal arteries with 64-channel multidetector computed tomography (MDCT)., Materials and Methods: In a university hospital, 820 patients who underwent MDCT angiography of the abdominal aorta were retrospectively evaluated. The number, early division (ED), and originating level of renal artery were evaluated retrospectively. Variations of the renal artery on both sides, the difference between the genders with variations of the renal artery, were compared with chi-square test., Results: Renal artery originating from the level of L1-L2 intervertebral disc was found in 37.0% and 38.9% of patients on the right and left sides, respectively. Renal artery variations, including extrarenal artery (ERA), were found in 27% and ED in 26.7% of the patients. Significant differences were found in ED and ERA prevalence for genders (p = 0.006 and p = 0.043, respectively). The prevalence of both variations is higher in males., Conclusions: An awareness of renal vascular variations is very important for both surgeons and radiologists. In this series, renal arterial variations were found in approximately one-fourth of the study population.

We represent the US findings of isolated gallbladder rupture caused by blunt abdominal trauma in a 13-year-old boy. At the initial US examination, although a pericholecystic fluid collection was observed, the mildly collapsed gallbladder was regarded as a contracted gallbladder. Even though the patient was haemodynamically stable, repeat US examination after 24 h revealed gallbladder perforation. In haemodynamically stable trauma patients repeated US examinations can be useful and are strongly recommended.