Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.

Juvenile polyposis syndrome (JPS) is a hereditary hamartomatous polyposis syndrome characterized by gastrointestinal juvenile polyps and increased risk of gastrointestinal cancer. Germline pathogenic variants are detected in SMAD4 or BMPR1A, however in a significant number of patients with JPS, the etiology is unknown. From Danish registers, and genetic department and laboratories, we identified all patients in Denmark with a clinical diagnosis of JPS and/or a pathogenic variant in BMPR1A or SMAD4.

Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome causing increased morbidity and mortality due to complications of polyposis and the development of cancer. STK11 is the only gene known to be associated with PJS, although in 10%-15% of patients fulfilling the diagnostic criteria no pathogenic variant (PV) is identified. The primary aim of this study was to identify the genetic etiology in all known PJS patients in Denmark and to estimate the risk of cancer, effect of surveillance and overall survival.

Implementation of a standardized surgical technique in robot-assisted restorative rectal cancer resection: a single center cohort study.

Background: Despite increasing focus on the technical performance of total mesorectal excision over recent decades, anastomotic leakage (AL) continues to be a serious complication for many patients, even in the hands of experienced surgical teams. This study describes implementation of standardized surgical technique in an effort to reduce variability, decrease the risk of anastomotic leakage, and improve associated short-term outcomes for rectal cancer patients undergoing robot-assisted restorative rectal resection (RRR).

Methods: We evaluated all rectal cancer patients undergoing robot-assisted RRR at Aarhus University Hospital between 2017 and 2020.

Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?

We present a three-generation family with an AXIN2 variant and a family history of colorectal cancer (CRC), colon polyps and tooth agenesis. A likely pathogenic variant was detected in the AXIN2 gene (c.1994dup; p.

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.

Background: Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair () variants despite frequent colonoscopy surveillance in expert centres. This observation conflicts with the paradigm that removal of all visible polyps should prevent the vast majority of CRC in carriers, provided the screening interval is sufficiently short and colonoscopic practice is optimal.

Methods: To inform the debate, we examined, in the Prospective Lynch Syndrome Database (PLSD), whether the time since last colonoscopy was associated with the pathological stage at which CRC was diagnosed during prospective surveillance.

[Rectal carcinoma in a 24-year-old man with Hirschsprung's disease].

This case report presents an incident of rectal carcinoma in a 24-year-old man with Hirschsprung's disease, for which he was operated in his early childhood, with a Soave pull-through procedure. No direct association between Hirschsprung's disease and rectal cancer was found in our review of the literature. However, several case reports of rectal cancers following pull-through procedures exist.

Is the accuracy of preoperative MRI stage in rectal adenocarcinoma influenced by tumour height?

Aim: To our knowledge, no prior studies have addressed the possible effects of tumour height on the accuracy of preoperative magnetic resonance imaging (MRI)-based staging relative to postoperative histopathological assessments in patients with adenocarcinoma of the rectum (RC). This study aimed to investigate whether the accuracy of preoperative MRI stage in RC is influenced by tumour height.

Methods: A total of 489 consecutive RC patients scheduled for curative treatment between 2009 and 2013 were included.

Pelvic Pain and Quality of Life Before and After Laparoscopic Bowel Resection for Rectosigmoid Endometriosis: A Prospective, Observational Study.

Background: Surgery for rectosigmoid endometriosis carries a substantial risk of short- and long-term complications, which has to be counterbalanced against the potential effect of the procedure. Prospective data are scarce in the field of deep infiltrating endometriosis surgery.

Objective: The study aimed to assess pelvic pain and quality of life before and after laparoscopic bowel resection for rectosigmoid endometriosis.

Diagnostic Value of Serial Measurement of C-Reactive Protein in the Detection of a Surgical Complication after Laparoscopic Bowel Resection for Endometriosis.

Aims: The study aimed to assess the diagnostic value of serial monitoring of biochemical inflammatory markers (C-reactive protein (CRP) and white blood cell (WBC) count) in the postoperative diagnosis of anastomotic leakage or ureteral injury after bowel resection for deep infiltrating endometriosis.

Methods: This is a review of prospectively collected data from 217 patients who underwent laparoscopic bowel resection for endometriosis from January 2009 to April 2015. Patients with an anastomotic leakage or ureteral injury were identified and classified.

Diagnosis and treatment of haemorrhoids.

These guidelines provide a review of diagnosis, conservative and surgical treatment of haemorrhoids with primary focus on the surgical treatment. In symptomatic hemorrhoids it is recommended, that conservative treatment is used as basic treatment regardless of grading. The vast majority of grade II haemorrhoids are treated conservatively, but surgery may be considered in a few cases with pronounced symptoms.

[Abdominal cocoon is a rare cause of ileus].

Partial or total encapsulation of bowel in a membrane-like sac is a rare cause of mechanical bowel obstruction. Three different types of encapsulation have been described: a congenital, a secondary and an idiopathic or "abdominal cocoon". The present case describes a 34-year-old male, who was admitted with small bowel obstruction caused by an "abdominal cocoon", which was successfully treated by surgery.

Diagnosis and treatment of fistulising Crohn's disease.

A fistula is defined as a pathological connection between the intestine and an inner (bladder or other intestine) or outer (vagina or skin) epithelial surface. Fistulas are discovered in up to 25% of all Crohn's disease patients during long-term follow-up examinations. Most are perianal fistulas, and these may be classified as simple or complex.

[Organisation and early outcome of restorative proctocolectomy and ileal pouch-anal anastomosis].

Introduction: Restorative proctocolectomy and ileal pouch-anal anastomosis (IPAA) has become the operation of choice for patients with ulcerative colitis and familial polyposis. However, the procedure is complex with a long learning curve, and carries a risk of both early and late complications. The purpose of this study was to evaluate the early outcomes (within 30 days after surgery) and organisation of IPAA surgery in Denmark between January 2001 and December 2005.

The effect of azathioprine on anastomotic healing: an experimental study in rats.

Purpose: The cytotoxic and immunosuppressive effects of azathioprine, which mitigate the disease activity in inflammatory bowel disease, may compromise the healing of intestinal anastomoses leading to an increased risk of anastomotic leakage. The effect of azathioprine treatment on intestinal healing was tested.

Methods: In an experimental study, rats were randomly given one oral dose of azathioprine (5 mg or 20 mg/kg body weight per day) or placebo.