Nine novel APC mutations in Italian FAP patients.

Familial adenomatous polyposis (FAP) is a common hereditary syndrome characterized by early development of colorectal cancer consequent to extensive adenomatous polyps of the colon. In addition to the colonic manifestations the syndrome presents several extracolonic features including polyps of the upper gastrointestinal tract, congenital hypertrophy of the retinal pigment, jaw cysts, osteomata and desmoid tumors. In this study the entire APC coding region has been analysed for mutation in a panel of one Turcot and 33 unrelated Italian FAP patients using SSCP analysis, PTT and DNA sequencing. We detected APC mutations in 23 of them and identified nine which, to our knowledge were not previously reported. All of these novel mutations are in exon 15, including two nonsense mutations, 6 deletions or insertions leading to premature termination of the protein and one missense mutation (7697G>A). This last mutation occurs in the EB1-binding domain of the APC protein and segregates in four relatives of the patient with three of them presenting 2-3 adenomatous polyps.

Biliary tract papillomatosis.

Papillomatosis of the biliary tract is characterised by multicentric papillary lesions of intra and extrahepatic biliary epithelium. It's a rare benign neoplasm of the biliary tract that causes obstructive jaundice with a high rate of malignant transformation. We described a case of papillomatosis of the biliary tract in a woman of 75-years-old, who came to our observation with jaundice, pruritus and fever. The surgical treatment consisted of cholecystectomy, choledochotomy and positioning a definitive T-Tube. We described our experience and the evolution of this disease.

Rectal carcinoma: CT staging with water as contrast medium.

Computed tomography (CT) was used to study 42 patients with rectal carcinoma. Water was used as a contrast medium for studying the local extent of tumor in all patients. Scans were read prospectively without knowledge of the histologic staging and then compared with pathologic specimens. CT depicted the tumor in all patients. Comparison of CT and histologic results (following the Dukes classification) showed that disease was correctly staged as A in three of four patients, as B in eight of 12, as C in 15 of 17, and as D in nine of nine. Overall, carcinoma was correctly staged with CT in 35 of 42 patients (diagnostic accuracy, 83.3%). The accuracy in the assessment of local invasion was 97.6% (41 of 42). In the detection of lymph node involvement, the accuracy was 78.6% (sensitivity, 88%; specificity, 64.7%). CT is recommended in the preoperative staging of rectal carcinoma and as an aid in choosing the appropriate therapy. The use of water enema and complete distention of the rectum are reliable techniques for improving the accuracy of CT in the assessment of local invasion by cancer.

[Ulcerative rectocolitis in the pediatric age group. Radical surgical treatment by the pull-through procedure and direct ileo-anal anastomosis]. / La rettocolite ulcerosa nell'età pediatrica. Terapia chirurgica radicale mediante il procedimento dell'endo-rectal pull through ed anastomosi ileo anale diretta.

Ulcerous rectocolitis (URC) is today seen more frequently than in the past. Extended forms and/or those recalcitrant to medical therapy, make use today of radical surgical treatment with fewer functional and anatomic sequelae. Personal experience of seven cases admitted to the Paediatric Surgery Department of the University of Bari is reported, stress being laid in particular on the results of surgical therapy obtained with total colectomy associated with proctomucosectomy according to the Romualdi-Soave technique. After presenting some general remarks on the disease in paediatric age, stress is laid on the need to resort as quickly as possible to radical surgery, respecting the technical suggestions of Lester-Martin. It is maintained that before carrying out surgical therapy it is always advisable to carry out temporary ileostomy as it offers particular advantages deriving from the greater effectiveness of pharmacological therapy on the defunctionalides colon, the noteworthy recovery in general condition favoured by associated NPT and by recognition of the real extent of the disease which often does not correspond to the endoscopic aspects. Finally, it is maintained that Lester-Martin's technical modification if applied correctly leads to normal functional results (continence and number of alvus emptyings) and definitive, stable cure of the disease, thus rendering inopportune, at least in paediatric age, of the use of the ileal pocket.