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Most patients with familial adenomatous polyposis (FAP) will develop duodenal polyps and 5% progress to cancer. Those with Spigelman stage IV have a 36% risk of cancer at 10 years. Endoscopic surveillance is necessary with local ablation for early disease. Unresectable duodenal disease and severe dysplasia are an indication for prophylactic radical surgery by pancreaticoduodenectomy or pancreas-sparing duodenectomy. Some preliminary results have shown better outcomes with duodenectomy. A 45-year-old female with FAP had restorative proctocolectomy at 24 years, desmoid of the mesentery with regression after sulindac, two pregnancies, and at the age of 37 years had duodenal polyposis stage III carpeting the periampullary region. Endoscopic papillectomy and extensive piecemeal mucosectomy was performed but was unsuccessful due to recurrence. After 7 years of regular endoscopic surveillance, focal high-grade dysplasia was diagnosed at the last evaluation. Some diminutive polyps were seen in the small-bowel capsule endoscopy. MRCP showed a normal biliary and pancreatic duct without visualization of the Santorini duct. A pancreas and pylorus-preserving duodenectomy was performed with 3 main steps: (1) duodenectomy with preservation of the pancreas and the pylorus; (2) reconstruction with an advanced jejunal limb and duodenojejunostomy; (3) reimplantation of the biliary and pancreatic duct in the jejunal loop. The patient was discharged on the 11th postoperative day without complications. In conclusion, pancreas- and pylorus-preserving duodenectomy is a promising alternative to pancreaticoduodenectomy for advanced duodenal polyposis that allows complete endoscopic surveillance.

Background and aim: Enteral nutrition (EN) is applicable to adult Crohn's disease (CD) in treating malnutrition and in inducing remission - here as a less effective alternative than corticosteroids. The purpose of this review is to determine whether preoperative EN impacts postoperative complications of adult CD, either by means of nutritional or therapeutic effects. Summary: A systematic review of English written full-text research articles published between January 1990 and November 2017, including adult patients undergoing abdominal surgery for complicated CD after EN, was performed. Four studies out of 22 were selected, all of which institutional, retrospective, case-control cohorts, one classified as "good quality" and three as "poor quality," as rated by the Newcastle-Ottawa Scale. The application of inclusion and exclusion criteria resulted in a non-intentional absence of studies referring to supplemental EN among those reviewed. The reduced number of heterogeneous eligible studies impeded meta-analysis. In all studies, exclusive EN (EEN) was used and well tolerated, allowing to defer or even avoid surgery altogether, improving patients' global state. The two studies with the greatest number of patients found preoperative EEN to be an independent factor against infectious and non-infectious complications in 219 patients and against anastomotic leaks or abscesses in 38 patients. Also, in univariate analysis, EEN was found to increase preop-erative immunosuppressant-free intervals and to protect against anastomotic dehiscences, intra-abdominal abscesses, surgical wound infections, ileus, stomas, and reoperations in the largest study; in another study it was related to fewer intra-abdominal septic complications. Key messages: All reviewed studies are retrospective and, consequently, of limited relevance. Nonetheless, all of them call the attention of the scientific community to the potential benefits of preoperative EEN on postoperative outcomes in adult CD, calling for prospective multi-institutional studies and randomized controlled trials. Introdução e objetivo: No adulto com doença de Crohn (DC) a nutrição entérica (NE) é aplicável como terapêutica da desnutrição ou como alternativa, menos eficaz, aos corticoides, para indução de remissão. O objetivo desta revisão é determinar se a NE pré-operatória tem impacto nas complicações pós-operatórias, seja pelo efeito nutricional seja pelo terapêutico. Sumário: Foi realizada uma revisão sistemática dos artigos de investigação que incluíssem doentes adultos submetidos a cirurgia abdominal por DC complicada, após NE, redigidos em inglês e publicados entre janeiro de 1990 e novembro de 2017. De 22 estudos foram selecionados quatro institucionais e retrospetivos de coorte, um de “fraca qualidade” e três de “pobre qualidade” pela “Newcastle-Ottawa Scale”. Nos estudos revistos foi utilizada NE exclusiva (NEE) já que, não intencionalmente, os estudos com NE suplementar reuniram critérios de exclusão. O pequeno número e a heterogeneidade dos estudos elegíveis impossibilitaram uma meta-análise. A NEE foi utilizada e bem tolerada em todos os estudos, e permitiu melhorar o estado global dos doentes e protelar ou mesmo evitar a cirurgia. Nos dois estudos com maior número de doentes, a NEE pré-operatória foi um fator independente contra deiscências de sutura e abcessos em 219 doentes, e contra complicações infeciosas intra-abdominais em 38. Em análise univariada também se verificou que, no maior estudo, a NEE aumentou o intervalo pré-operatório livre de imunossupressores e foi protetora contra deiscências anastomóticas, abscessos intra-abdominais, infeções da ferida operatória, ileus, estomas e reoperações; noutro estudo menores correlacionou-se com menos complicações infeciosas intra-abdominais. Mensagens-chave: Todos os estudos revistos são retrospetivos e, consequentemente, de relevância limitada. No entanto, todos chamam a atenção da comunidade científica para os potenciais benefícios da NEE pré-operatória nos resultados pós-operatórios dos adultos com DC e para a necessidade de estudos prospetivos multi-institucionais e de ensaios clínicos randomizados. info:eu-repo/semantics/publishedVersion

Aim Local recurrence after resection of rectal cancer is usually regarded as being due to a ‘failure’ of surgery. The completeness of resection of the mesorectum has been proposed as an indicator of the ‘quality’ of the resection. We determined the prognostic value of macroscopic evaluation of rectal cancer resection specimens and the circumferential resection margin (CRM) after curative surgery. Method From 1999 to 2006, the macroscopic quality of the mesorectum and the CRM were prospectively assessed in 127 patients who underwent rectal cancer resection with curative intent (R0+R1). Chemoradiotherapy was administered for 61 tumours staged as locally advanced tumours (T3, T4 and N+). Univariate analysis of time to local recurrence and cancer-free survival were tested (Kaplan–Meier) and multivariate analysis calculated with a Cox regression model. Results The mesorectum was incomplete in 34 (26.8%) patients. At a median follow up of 34 months (range, 9–96 months), in the group with an adequate mesorectal excision, the cumulative risk of local recurrence at 5 years was 10%. This was 25% if the mesorectum was incomplete (P

Objectives The MYH gene has recently been associated with multiple colorectal tumours. It participates in the DNA base-excision-repair, avoiding mutations in other genes, namely the APC and Ki-ras. Recently, biallelic MYH mutations have been described in patients with attenuated polyposis and in 7.5% with classic polyposis and no detectable APC mutation. The aim of this study was to analyse the incidence of germ-line MYH mutations in selected Portuguese families recorded in a hereditary tumour registry and to evaluate the risk of colorectal cancer in this syndrome. Patients and methods Nineteen APC mutation negative patients, 13 presenting attenuated polyposis and 6 with classic familial adenomatous polyposis (> 100 adenomas), were screened for germline biallelic MYH mutations. Results Biallelic germline mutations in MYH were identified in 9 of the attenuated polyposis and in one of the classic polyposis patients. The mean age at the clinical diagnosis was 50.6 years (from 35 to 69 years); six were men and four women. Five patients belonged to families with affected siblings; three showed evidence for vertical transmission and two had no evidence for familial transmission of the disease. No extra-colonic manifestations were reported. All patients had surgical resections: five total colectomies, four reconstructive proctocolectomies and one left hemicolectomy. Eight patients had associated malignant degeneration: three T3N+, four T3N0 and one T1N+. In the follow-up two patients died due to tumour recurrence. Conclusion A large frequency of biallelic MYH mutations (69%) was found in APC mutation negative patients belonging to families with attenuated polyposis; the highest percentage was observed in families presenting evidence for horizontal transmission of the disease. The high percentage of degeneration found in these patients suggests that colonoscopy with polypectomies is not sufficient and prophylactic colectomy is recommended. The identification of MYH associated polyposis is important to evaluate the level of risk, particularly for the siblings.

Background: To determine the accuracy of computed tomography performed with a water enema application (WE-CT) in the local staging of low colorectal neoplasms and to compare the results with those of transrectal ultrasonography (TRUS). Methods: Forty patients with low colorectal tumors were evaluated prospectively by CT with the simultaneous administration of a lukewarm rectal enema (0.5–1.5 L). Thin slices (5 mm) and intravenous application of iodinated contrast media were routinely used. TRUS was performed in 18 patients. Tumor size, location, and staging according to the TNM classification of the UICC were registered. Tumors were classified as

RATIONALE AND OBJECTIVES: To prospectively evaluate perfusion computed tomography (CT) for assessment of changes in tumor vascularity after chemoradiation therapy (CRT) in locally advanced rectal cancer and to analyze the correlation between baseline perfusion parameters and tumor response. MATERIALS AND METHODS: Twenty patients with rectal cancer underwent baseline perfusion CT before CRT, and in 11 an examination after CRT was also performed. For each tumor, blood flow (BF), blood volume (BV), mean transit time (MTT), and permeability-surface area product (PS) were quantified. The Mann-Whitney U test compared baseline perfusion parameters of responders and nonresponders and pre- and post-CRT measurements were compared by the Wilcoxon signed-rank test (P < .05 statistically significant for both tests). RESULTS: Baseline BF was significantly lower (P = .013) and MTT was significantly higher (P = .006) in responders. Both were able to discriminate responders from nonresponders with a sensitivity of 80% and 100% and a specificity of 73.3% and 86.7%, respectively, for BF and MTT. Baseline BV and PS were not significantly different in responders and nonresponders. Perfusion parameters changed significantly in post-CRT scans compared to baseline: BF (P = .003), BV (P = .003), and PS (P = .008) decreased, whereas MTT increased (P = .006). CONCLUSION: Baseline BF and MTT can discriminate patients with a favorable response from those that fail to respond to CRT, potentially selecting high-risk patients with resistant tumors that may benefit from an aggressive preoperative treatment approach.

Germline mutations of the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP), an autosomal dominant predisposition to colorectal cancer. In the present study we screened all of the exons of the APC gene in individuals belonging to 85 Portuguese FAP families. We here report eleven novel mutations which are predominantly frameshifts or single base substitutions, resulting in premature stop codons. Hum Mutat 16:178, 2000.

Hereditary non-polyposis colorectal cancer (HNPCC) is considered to be determined bygermline mutations in the mismatch repair (MMR) genes, especially MSH2 and MLH1.While screening for mutations in these two genes in HNPCC portuguese families, 3previously unreported MSH2 and 1 MLH1 mutations have been identified in familiesmeeting strict Amsterdam criteria. © 1999 Wiley-Liss, Inc. KEY WORDS: HNPCC ; MSH2; MLH1; MMR gene mutations . INTRODUCTION Hereditary non-polyposis colorectal cancer (HNPCC) is a clinical syndrome characterized by an inheritedpredisposition to early onset colorectal and uterine cancer and an increased incidence of other cancers (Kee andCollins, 1991; Aaltonen et al, 1994). The MMR genes MSH2 and MLH1 are considered to be the two majorgenes implicated in HNPCC (Viel et al, 1997; Liu et al, 1995; Wijnen et al, 1996). Germline mutations of thesegenes have previously been found in a high proportion of individuals who are genetically predisposed tocolorectal cancer as well as to other tumours of the HNPCC spectrum (Peltomaki et al, 1997). During screeningof portuguese HNPCC families for mutations in the previously mentioned MMR genes, we have identified 3 novelMSH2 and 1 MLH1 mutations in families meeting strict Amsterdam criteria.