Brass Happenings

Presenting a student recital for brass students in USU\u27s Music Department.https://digitalcommons.usu.edu/music_programs/1107/thumbnail.jp

Moeller Studio Piano Recital

Moeller Studio\u27s Piano Recital for its students, performing various works by noteworthy composers.https://digitalcommons.usu.edu/music_programs/1119/thumbnail.jp

Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families

<p>Abstract</p> <p>Background</p> <p>The dominantly inherited condition familial adenomatous polyposis (FAP) is caused by germline mutations in the <it>APC </it>gene. Finding the causative mutations has great implications for the families. Correlating the genotypes to the phenotypes could help to improve the diagnosis and follow-up of patients.</p> <p>Methods</p> <p>Mutation screening of <it>APC </it>and the clinical characterization of 96 unrelated FAP patients from the Swedish Polyposis Registry was performed. In addition to generally used mutation screening methods, analyses of splicing-affecting mutations and investigations of the presence of low-frequency mutation alleles, indicating mosaics, have been performed, as well as quantitative real-time polymerase chain reaction to detect lowered expression of <it>APC</it>.</p> <p>Results</p> <p>Sixty-one different <it>APC </it>mutations in 81 of the 96 families were identified and 27 of those are novel. We have previously shown that 6 of the 96 patients carried biallelic <it>MUTYH </it>mutations. The 9 mutation-negative cases all display an attenuated or atypical phenotype. Probands with a genotype (codon 1250–1464) predicting a severe phenotype had a median age at diagnosis of 21.8 (range, 11–49) years compared with 34.4 (range, 14–57) years among those with mutations outside this region (<it>P </it>< 0.017). Dense polyposis (> 1000) occurred in 75% of the probands with a severe phenotype compared with 30% in those with mutations outside this region. The morbidity in colorectal cancer among probands was 25% at a mean age of 37.5 years and 29% at a mean age of 46.6 years.</p> <p>Conclusion</p> <p>Using a variety of mutation-detection techniques, we have achieved a 100% detection frequency in classical FAP. Probands with <it>APC </it>mutations outside codon 1250–1464, although exhibiting a less-severe phenotype, are at high risk of having a colorectal cancer at diagnosis indicating that age at diagnosis is as important as the severity of the disease for colorectal cancer morbidity.</p