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Correlations between germline APC mutation sites and colorectal pathophenotypes, as evaluated by the direct count of adenomas at colectomy, were investigated analysing colectomy specimens from 29 FAP patients carrying one mis-sense (codon 208) and 14 frame-shift or non-senseAPC mutations (codons 232, 367, 437, 623, 876, 995, 1061, 1068, 1075, 1112, 1114, 1309, 1324, 1556). The mis-sense mutation at codon 208 was associated with a relatively mild colorectal pathophenotype. The mutation at codon 367, subject to alternative splicing, was associated with attenuated FAP. The mutation at codon 1309 was associated with the profuse colorectal adenomatosis. For 13 mutations, predicted to result in null alleles or truncated APC proteins, we correlated density and distribution of colorectal adenomas with the predicted functional effects of the mutation. The most severe colorectal pathophenotype was significantly associated with the truncating mutation at codon 1309, which is located downstream to the Iβ-catenin binding domain but upstream IIβ-catenin-binding domain. Mutations between codons 867 and 1114, which affect the Iβ-catenin binding domain, as well as mutations occurring in exons 6 and 9, predicted to result in null alleles, were associated with a less severe colorectal pathophenotype. Overall, the highest number of adenomas was detected in the right colon, followed by the left colon, transverse colon sigma and rectum. However, the highest density of adenomas was observed in the left colon, followed by the right colon, sigma, transverse colon and rectum. Colorectal carcinomas, observed in only five patients, were all in the left colon. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to determine whether nocturnal enuresis (NE) can be caused by absorptive hypercalciuria. Materials and Methods: From 1981 to 1995, 406 patients with primary monosymptomatic nocturnal enuresis were studied. Up to 1989 (Group 1), urinary electrolytes and urinary creatinine were not evaluated, but since 1990 (Group 2) these tests have been performed routinely. In doing so, we noticed that in 8 patients in Group 2 and in 13 patients in Group 1 with persistent NE the urinary calcium and the urinary calcium/creatinine ratios were significantly high (p < 0.001). These patients were submitted to Pak's test and parathyroid hormone (PTH) and antidiuretic hormone (ADH) measurements. Results: In all 21 patients, PTH and ADH levels were normal, while the Pak's test showed absorptive hypercalciuria. They were given an appropriate diet. After 3 months, NE had ceased completely in 4 patients (19%); bedwetting episodes diminished and calciuria levels were found to be borderline in the remaining 17. A new urodynamic evaluation showed normal patterns in 12 and detrusor instability (DI) in 5. Patients with DI received oxybutinine: enuresis disappeared in all. The remaining 12 children with persistent NE and normal urodynamic findings and the child with DI and persistent NE empirically received DDAVP; enuresis ceased in all of them within 1 month and calciuria stabilized at normal levels. Conclusions: This study revealed that absorptive hypercalciuria can be responsible for NE and can be treated with the combination of diet and DDAVP. [ABSTRACT FROM AUTHOR]

Presents a letter to the editor on genetic evidence that juvenile nasopharyngeal angiofibroma is an integral familial adenomatous polyposis tumor.