RFA with cement augmentation safely and effectively reduces pain and disability rapidly, while increasing quality of life in patients suffering from vertebral body metastases.
At CT, tumor recurrences were most commonly seen as some combination of local-regional disease, distant metastases, and abdominal lymph node enlargement. CT findings isolated to one region were seen only occasionally.
Stoma tract maturation is critical to prevent early complications after percutaneous gastrostomy placement. Gastropexy's are used for fluoroscopic gastrostomy placement, but not for endoscopic gastrostomy placement. We found using porcine model that stoma tract maturation occurs within the first week of gastrostomy placement with either method and that this maturation is not affected by use of gastropexy. This provides further evidence that outcomes of fluoroscopic and endoscopic gastrostomy placements are similar and that stoma tract maturation occurs relatively quickly.
The SA catheter appears to be a useful adjunct in diagnosing patients with biliary pathology. The existence of this technique, predicated on tissue architecture, may impact therapy, allow more timely diagnosis, and exclude cases of equivocal cytology. Although the initial results of SA use are promising, more experience is required to effectively determine its clinical accuracy.
Hereditary hemorrhagic telangiectasia is an autosomal dominant disease caused by mutations in the ACVRL1 and ENG genes characterized by arterio-venous malformations and telangiectases. Over 700 mutations have been described in these two genes, and missense mutations are common. We describe 10 cases in which more than one potentially pathogenic mutation was identified. We report that 8 novel missense mutations , as well as previously reported pathogenic missense mutations , were seen in combination with a second mutation , which raises questions with regards to their respective pathogenicity. Our data and discussion indicate the challenges of classifying missense mutations as pathogenic or benign and the value of co-segregation studies , as well as suggest that there may be hereditary hemorrhagic telangiectasia gene mutations that have only mild phenotypic effects. We present evidence to suggest that four missense mutations (ENG p.G331S , ENG p.L8P , ENG p.P452L and ACVRL1 p.C344R) are pathogenic , two novel mutations (ACVRL1 p.A311T and ENG p.S576G) are neutral , and two previously reported disease-causing mutations are benign or have suspected benign variants (ACVRL1 p.A482V and ENG p.V504M). We conclude that for the purpose of establishing a causative hereditary hemorrhagic telangiectasia mutation in a family proband , all exons and intron/exon borders of both genes should be sequenced and deletion/duplication analysis should be performed unless a mutation that is well-proven to be pathogenic is identified. Telangiectases and arteriovenous malformations (AVMs) are the characteristic phenotypic manifestations of hereditary hemorrhagic telangiectasia (HHT), a heterogeneous autosomal dominant disorder. Recurring nosebleeds are the most common complication of telangiectases in patients with HHT, but can be mild and infrequent when they begin, typically in late childhood or early teens.
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