Review of local injection of anti-TNF for perianal fistulising Crohn's disease.

Background: Perianal fistulising Crohn's disease (PFCD) affects a third of Crohn's disease patients and represents a disabling phenotype with poor outcome. The anti-tumour necrosis factor alpha (TNF) therapies have been shown to maintain clinical remission in a third of patients after 1 year of treatment. Maintenance therapy with systematic administration schedules confers greatest benefit, but exposes patients to risks/side effects of continued systemic use and led to consideration of local drug delivery (first described in 2000).

Chemokine (C-C Motif) Receptor 2 Mediates Dendritic Cell Recruitment to the Human Colon but Is Not Responsible for Differences Observed in Dendritic Cell Subsets, Phenotype, and Function Between the Proximal and Distal Colon.

Background & Aims: Most knowledge about gastrointestinal (GI)-tract dendritic cells (DC) relies on murine studies where CD103 DC specialize in generating immune tolerance with the functionality of CD11b subsets being unclear. Information about human GI-DC is scarce, especially regarding regional specifications. Here, we characterized human DC properties throughout the human colon.

Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome.

Background: Juvenile polyposis syndrome is phentoypically and genotypically heterogeneous. It is associated with an increased risk of GI cancers, and surveillance is recommended. Few data exist that detail the outcomes of surveillance in juvenile polyposis syndrome.

Advanced duodenal disease in familial adenomatous polyposis: how frequently should patients be followed up after successful therapy?

Duodenal polyposis is found in the majority of patients with familial adenomatous polyposis. Endoscopic surveillance programmes grade the severity of duodenal disease according to the Spigelman classification (stages 0-IV) to identify patients at risk of developing adenocarcinoma. To evaluate the progression of duodenal polyposis in patients with a previous diagnosis of Spigelman stage IV disease who have been downstaged by endoscopic or pharmacological means.

Familial adenomatous polyposis-related desmoids presenting with air-fluid level: a clinical review and management algorithm.

Background: Familial adenomatous polyposis-related desmoid tumors can present with a liquefied center containing gas, accompanied by abdominal pain and sepsis. To date the optimal management of such patients has not been documented.

Objective: The aim of this study was to review our experience of managing these desmoids grouped together as "intra-abdominal desmoids with air-fluid level" and present a management algorithm.

A diagnostic accuracy meta-analysis of endoanal ultrasound and MRI for perianal fistula assessment.

Background: Imaging modalities such as endoanal ultrasound or MRI can be useful preoperative adjuncts before the appropriate surgical intervention for perianal fistulas.

Objectives: We present a systematic review of published literature comparing endoanal ultrasound with MRI for the assessment of idiopathic and Crohn's perianal fistulas.

Design: A meta-analysis was performed to obtain pooled values for specificity and sensitivity.

A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis.

Evidence supporting aspirin and resistant starch (RS) for colorectal cancer prevention comes from epidemiologic and laboratory studies (aspirin and RS) and randomized controlled clinical trials (aspirin). Familial adenomatous polyposis (FAP) strikes young people and, untreated, confers virtually a 100% risk of colorectal cancer and early death. We conducted an international, multicenter, randomized, placebo-controlled trial of aspirin (600 mg/d) and/or RS (30 g/d) for from 1 to 12 years to prevent disease progression in FAP patients from 10 to 21 years of age.

Pancreaticoduodenectomy for advanced duodenal and ampullary adenomatosis in familial adenomatous polyposis.

Background: Patients with familial adenomatous polyposis (FAP) develop duodenal and ampullary polyps that may progress to malignancy via the adenoma-carcinoma sequence.

Objective: The aim of this study was to review a large series of FAP patients undergoing pancreaticoduodenectomy for advanced duodenal and ampullary polyposis.

Methods: A retrospective case notes review of all FAP patients undergoing pancreaticoduodenectomy for advanced duodenal and ampullary adenomatosis was performed.

Mucosectomy with handsewn anastomosis reduces the risk of adenoma formation in the anorectal segment after restorative proctocolectomy for familial adenomatous polyposis.

Objective: The study compared the risk of adenoma or carcinoma formation in the anorectal segment after either mucosectomy with manual anastomosis or stapled ileoanal anastomosis (IAA) following restorative proctocolectomy (RPC) for familial adenomatous polyposis (FAP).

Background: Few data exist on the risk of adenoma formation after either technique in FAP.

Methods: All endoscopy and histology reports for patients having RPC for FAP attending for annual pouchoscopy from 1978 to 2007 were reviewed.

Colorectal cancer: no longer the issue in familial adenomatous polyposis?

Familial adenomatous polyposis (FAP) is a dominantly inherited colorectal cancer (CRC) syndrome with an untreated lifetime prevalence of CRC close to 100% and extracolonic manifestations (ECM) of increasing clinical significance. This study examined the effect of systematic callup and prophylactic colectomy on FAP survival. Patients diagnosed, treated and followed-up at our institution were analysed.

A prospective study of MR enterography versus capsule endoscopy for the surveillance of adult patients with Peutz-Jeghers syndrome.

Objective: The objective of our study was to assess the utility of MR enterography compared with capsule endoscopy for the detection of small-bowel polyps in patients with Peutz-Jeghers syndrome (PJS).

Subjects And Methods: Adult patients with PJS scheduled for surveillance capsule endoscopy were prospectively recruited and underwent MR enterography and capsule endoscopy. Polyps > 10 mm were regarded as clinically relevant.

Surgical prophylaxis in familial adenomatous polyposis: do pre-existing desmoids outside the abdominal cavity matter?

Desmoid tumours (DT) are myofibroblastic proliferations found in 10-25% of familial adenomatous polyposis (FAP) patients, either intra-abdominally (IA), in the abdominal wall (AW) or elsewhere (extra-abdominal (EA)). Most DT occur following prophylactic colectomy but occasionally patients present with pre-operative DT. Mutations 3' to codon 1444, predispose to DT and attenuated phenotype, leading to a potential strategy of delaying surgery in patients at high risk of DT.

Familial adenomatous polyposis (FAP) and gender. Does gender influence the genetic transmission of FAP?

Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome with a penetrance close to 100% at the age of 40 years. The incidence is thought to be equal among both sexes, but we noticed an excess of males undergoing primary surgery for FAP at our institution. The aim of the study is to investigate the hypothesis that FAP patients produce an excess of affected male offspring.

Eicosapentaenoic acid reduces rectal polyp number and size in familial adenomatous polyposis.

Objective: The omega-3 polyunsaturated fatty acid eicosapentaenoic acid (EPA) has anticolorectal cancer activity in vitro and in preclinical models. The present study tested whether a novel, enteric-coated formulation of EPA, as the free fatty acid (EPA-FFA), has chemopreventative efficacy in patients with familial adenomatous polyposis (FAP), in a randomised, double-blind, placebo-controlled trial.

Methods: Patients undergoing endoscopic surveillance of their retained rectum postcolectomy were randomised to EPA-FFA (SLA Pharma) 2 g daily or placebo for 6 months.

Etiology of perianal Crohn's disease: role of genetic, microbiological, and immunological factors.

Perianal fistulation is a common complication of Crohn's disease (CD). Fistulating perianal CD appears to represent a distinct phenotype of CD, separate from luminal fistulating disease, with differing disease behavior and which often requires different therapeutic strategies. The etiology of Crohn's perianal fistulae appears to have genetic, microbiological, and immunological components.

An experimentally successful new sphincter-conserving treatment for anal fistula.

Purpose: A new sphincter-conserving treatment was evaluated in a porcine model.

Methods: A total of 36 fistulas were created by procedures that have been published previously. At fistula induction a skin biopsy was taken from which to culture fibroblasts.

Features of duodenal cancer in patients with familial adenomatous polyposis.

Background & Aims: Most patients with familial adenomatous polyposis (FAP) develop duodenal adenomas; duodenal cancer is a major cause of mortality in this patient group. We reviewed cases of duodenal cancer in patients with FAP to identify factors that determine long-term cancer risk.

Methods: Twenty FAP patients (12 male) were identified from a registry database search.

Clinical and surgical recurrence of Crohn's disease after ileocolonic resection in a specialist unit.

Background: Postoperative clinical and endoscopic recurrence is common in Crohn's disease.

Aim: We aimed to assess postoperative recurrence and management in a cross-sectional patient cohort in one specialist unit, before the introduction of a uniform postoperative preventive strategy.

Methods: Review of patients who had an ileocolonic resection for Crohn's disease between 2002 and 2005 in a secondary and tertiary care specialist centre.

Promoter hypermethylation leads to decreased APC mRNA expression in familial polyposis and sporadic colorectal tumours, but does not substitute for truncating mutations.

Germline mutations in the tumour suppressor APC cause familial adenomatous polyposis (FAP), and somatic mutations are common in sporadic colorectal cancers (CRCs). Hypermethylation of APC promoter 1A has been reported in a substantial proportion of sporadic CRCs and may cause transcriptional silencing. Methylation has been proposed as an alternative to mutation or loss of heterozygosity as a mechanism of gene inactivation.

Therapeutic potential of replication-selective oncolytic adenoviruses on cells from familial and sporadic desmoid tumors.

Purpose: Constitutive activation of the Wnt signaling pathway is a hallmark of many cancers and has been associated with familial and sporadic desmoid tumors. The aim of the present study is to assess the therapeutic potential of oncolytic adenoviruses selectively replicating in cells in which the Wnt signaling pathway is active on primary cells from desmoid tumors.

Experimental Design: Primary cells extracted from familial (n = 3) or sporadic (n = 3) desmoid tumors were cultured short term.

The impact of technical factors on outcome of restorative proctocolectomy for familial adenomatous polyposis.

Purpose: This study was designed to assess the impact of technical factors on functional outcomes and complications in patients undergoing restorative proctocolectomy for familial adenomatous polyposis.

Methods: This was a descriptive study on 189 patients undergoing restorative proctocolectomy in a single tertiary referral center between 1977 and 2003. Primary outcomes were major complications, pouch function, and neoplastic transformation in the anal transitional zone.