PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis.

Unlabelled: The pathogenesis of duodenal tumors in the inherited tumor syndromes familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) is poorly understood. This study aimed to identify genes that are significantly mutated in these tumors and to explore the effects of these mutations. Whole exome and whole transcriptome sequencing identified recurrent somatic coding variants of phosphatidylinositol N-acetylglucosaminyltransferase subunit A (PIGA) in 19/70 (27%) FAP and MAP duodenal adenomas, and further confirmed the established driver roles for APC and KRAS.

GRANULOMATOUS DISEASE OF UNUSUAL SITES CAUSING HYPERCALCEMIA: TWO CASE REPORTS.

Objective: Hypercalcemia with suppressed parathyroid hormone (PTH) levels is mostly due to granulomatous disease (GD) or neoplastic disease. In GD, autonomous activity of extra-renal 1α-hydroxylase enzyme is usually the underlying cause. We describe a pair of cases where hypercalcemia resulted from GD of unusual sites posing significant diagnostic challenges.

The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis.

Background And Aims: Duodenal polyposis and cancer have become a key issue for patients with familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). Almost all patients with FAP will develop duodenal adenomas, and 5% will develop cancer. The incidence of duodenal adenomas in MAP appears to be lower than in FAP, but the limited available data suggest a comparable increase in the relative risk and lifetime risk of duodenal cancer.

Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and -associated Polyposis.

Duodenal polyposis and cancer are important causes of morbidity and mortality in familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). This study aimed to comprehensively characterize somatic genetic changes in FAP and MAP duodenal adenomas to better understand duodenal tumorigenesis in these disorders. Sixty-nine adenomas were biopsied during endoscopy in 16 FAP and 10 MAP patients with duodenal polyposis.

Inherited predisposition to colorectal cancer: towards a more complete picture.

Colorectal carcinoma (CRC) is the third most common cancer worldwide. Hereditary factors are important in 15%-35% of affected patients. This review provides an update on the genetic basis of inherited predisposition to CRC.

The molecular genetics of colorectal cancer.

Colorectal cancer is a common but heterogeneous disease, which arises through the accumulation of genetic mutations. Knowledge of the molecular basis of colorectal cancer has advanced at a rapid pace in recent years, reflecting progress made in the field of genomic medicine. Targeted therapies have come into mainstream use, and the exciting prospect of treatment regimens tailored to the mutation profile of individual tumours is beginning to emerge.

Gastrointestinal polyposis syndromes for the general gastroenterologist.

The occurrence of colonic polyps is a common phenomenon; however, where there are numerous adenomas or other polyps, and/or the patient is at a relatively young age, an inheritable form of gastrointestinal polyposis should be considered. Patients can present via different referral routes, for example, at colonoscopy where multiple polyps are detected, following a personal diagnosis of colorectal cancer, or by family screening. This article outlines the important considerations in the diagnosis of a polyposis syndrome and key diagnostic features to consider.

Can endoscopists accurately self-assess performance during simulated colonoscopic polypectomy? A prospective, cross-sectional study.

Background: The aim of this study was to establish if endoscopists can reliably self-assess their ability to perform simulated colonic polypectomy.

Methods: Novices, intermediates, advanced, and experts performed a video-recorded polypectomy task using the Welsh Institute for Minimal Access Therapy (WIMAT) colonoscopy suitcase simulator. This involved removal of a simple polyp (A) and a complex polyp (B).

The Welsh Institute for Minimal Access Therapy colonoscopy suitcase has construct and concurrent validity for colonoscopic polypectomy skills training: a prospective, cross-sectional study.

Background: The Welsh Institute for Minimal Access Therapy (WIMAT) colonoscopy suitcase is an ex vivo porcine simulator for polypectomy training.

Objective: To establish whether this model has construct and concurrent validity.

Design: Prospective, cross-sectional study.

Incidence and presentation of reported coeliac disease in Cardiff and the Vale of Glamorgan: the next 10 years.

Objective: To determine whether there is a continued increase in the incidence of coeliac disease (CD) in the population of Cardiff and the Vale of Glamorgan between 1996 and 2005 compared with previous data for 1981-1995, and to describe the presenting features during this time.

Design: Retrospective case-finding study using pathology, dietetic and clinical records held in hospitals and general practice within Cardiff and the Vale of Glamorgan. All local consultants including those at private hospitals were contacted.

Two for the price of one: a dual treatment benefit of long-acting octreotide in occult bleeding and diuretic intractable ascites.

Transfusion-dependent anaemia and portal hypertension are recognised complications of hereditary haemorrhagic telangiectasia (HHT). The anaemia is a result of chronic bleeding from gastrointestinal telangiectasias, which are usually multiple and located throughout the gastrointestinal tract. As a result, treatment with argon plasma coagulation via gastroscopy and or colonoscopy is often insufficient to prevent ongoing blood loss.

An opportune finding in suspected liver metastases.

Opportunistic mycobacterial infections are rare in immunocompetent patients. The authors describe a case of disseminated Mycobacterium avium complex disease in a previously healthy patient presenting with hepatosplenomegaly and non-specific symptoms which initially led to a diagnosis of metastatic carcinoma. After correct treatment she made a full recovery, with resolution of symptoms and the radiological findings.

Anaemia in older people with chronic heart failure: The potential cost.

Studies suggest benefits from correcting anaemia in heart failure using a combination of erythropoiesis-stimulating agents (ESAs) and intravenous iron. We set out to investigate the number of older patients who would require treatment of anaemia in a large teaching hospital in the United Kingdom and the cost implications. The prevalence of anaemia and chronic kidney disease (CKD) in patients 65 years and older with systolic dysfunction attending the local heart failure clinic was determined.

Using email and text messaging to improve patient compliance with blood monitoring.

Background: Patients with inflammatory bowel disease may need immunosuppressant therapy. This involves frequent blood tests to ensure results are within safe limits.

Aim: To investigate whether the use of email and text messaging to remind patients to have blood tests might result in better compliance than using more conventional methods of communication.

Molecular approaches to the study of gene expression during human preimplantation development.

Understanding of gene expression during the early stages of human development has increased markedly in the last 2 years, as refined and highly sensitive procedures have been developed enabling construction of cDNA libraries from single preimplantation embryos and unfertilized oocytes. The genes identified so far include key regulatory genes such as imprinted genes, transcription factors and cell cycling genes, as well as repetitive sequences, brain transcripts and housekeeping genes. In addition, sequencing of random clones has revealed cDNAs matching known expressed sequence tags in the GenBank and dbEST databases, in addition to novel sequences not currently present in these databases.