Case 99: Canavan disease.
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Biomedical subjects
Publications and source records attributed to Steven J Michel.
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OBJECTIVE: Cystic fibrosis (CF) is a disorder of exocrine gland function of which the gene mutation has been existing for thousands of years. With recent medical advances, neonates presently affected have a life expectancy of 40 years. The common gastrointestinal presentations of CF patients, including pancreatic, hepatobiliary, and bowel manifestations, are thus important to recognize. CONCLUSION: Gastrointestinal manifestations of CF are varied yet common and thus increasingly important to recognize. The sonographic, CT, and MRI abdominal findings in older children and adults with CF are presented.
OBJECTIVE: The purpose of this article is to illustrate the effectiveness and utility of percutaneous sacroplasty in the treatment of sacral insufficiency fractures. We also outline the technical considerations in performing the procedure. CONCLUSION: Percutaneous sacroplasty is an effective treatment for sacral insufficiency fractures. Most patients experience significant relief within the first 48 hr.
Methylmalonic acidemia (MMA) is a multifactorial autosomal recessive inborn error of organic acid metabolism, often presenting with neurologic findings. We report the imaging findings in a case of a child with classic neurological and laboratory findings for MMA. Imaging studies demonstrated abnormalities within the basal ganglia, particularly the globi pallidi (GP). Diffusion-weighted abnormalities seen in patients with MMA during an acute episode of metabolic acidosis and at follow-up are discussed. The authors are aware of only one prior report of serial examinations demonstrating resolution of restricted diffusion in the GP. The biochemical and pathophysiologic basis of the imaging findings of MMA are explained.
OBJECTIVE: The goal of this prospective randomized study was to determine whether isosmolar contrast material offers an advantage over low-osmolar contrast material for delayed venous opacification in CT venography. SUBJECTS AND METHODS. We prospectively enrolled 200 adult outpatients. Patients were randomized to receive either the low-osmolar (hyperosmolar to blood) nonionic contrast medium, iohexol, or the nonionic isosmolar contrast medium, iodixanol. Images were obtained before contrast administration and 180 sec after contrast administration through the pelvis at the level of the external iliac vessels. Opacification of the external iliac vessels was assessed both objectively and subjectively. RESULTS: The arterial and venous densities before contrast administration were approximately 45 H for both groups. On delayed images obtained after contrast administration, the mean venous density was 95.2 H for iohexol and 101.4 H for iodixanol. Changes in venous density due to administration of iohexol and iodixanol were 49.8 and 56.1 H, respectively. This 12.5% difference was highly significant (p = 0.002). Sixty-six percent of the images in the iodixanol group were rated either 4 (good) or 5 (excellent), whereas only 36% of the iohexol group achieved a similar rating on our subjective rating scale. This difference was statistically significant (chi(2) = 16.4, p < 0.001, df = 1). CONCLUSION: Our study shows that isosmolar contrast material provides significant improvement in delayed opacification of the external iliac vessels in comparison with conventional low-osmolar contrast medium (hyperosmolar to blood).
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