Novel loci for Alzheimer's disease identified by a genome-wide association study in Ashkenazi Jews.

Introduction: Most Alzheimer's disease (AD) loci have been discovered in individuals with European ancestry (EA).

Methods: We applied principal component analysis using Gaussian mixture models and an Ashkenazi Jewish (AJ) reference genome-wide association study (GWAS) data set to identify Ashkenazi Jews ascertained in GWAS (n = 42,682), whole genome sequencing (WGS, n = 16,815), and whole exome sequencing (WES, n = 20,504) data sets. The association of AD was tested genome wide (GW) in the GWAS and WGS data sets and exome wide (EW) in all three data sets (EW).

Evaluation of a real-time computer-aided polyp detection system during screening colonoscopy: AI-DETECT study.

Background: Polyp detection and resection during colonoscopy significantly reduce long-term colorectal cancer risk. Computer-aided detection (CADe) may increase polyp identification but has undergone limited clinical evaluation. Our aim was to assess the effectiveness of CADe at colonoscopy within a bowel cancer screening program (BCSP).

Implementation of optical diagnosis with a "resect and discard" strategy in clinical practice: DISCARD3 study.

Background And Aims: Optical diagnosis (OD) of polyps can be performed with advanced endoscopic imaging. For high-confidence diagnoses, a "resect and discard" strategy could offer significant histopathology time and cost savings. The implementation threshold is a ≥90% OD-histology surveillance interval concordance.

Whole-colon investigation vs. flexible sigmoidoscopy for suspected colorectal cancer based on presenting symptoms and signs: a multicentre cohort study.

Background: Patients with suspected colorectal cancer (CRC) usually undergo colonoscopy. Flexible sigmoidoscopy (FS) may be preferred if proximal cancer risk is low. We investigated which patients could undergo FS alone.

Is whole-colon investigation by colonoscopy, computerised tomography colonography or barium enema necessary for all patients with colorectal cancer symptoms, and for which patients would flexible sigmoidoscopy suffice? A retrospective cohort study.

Background: For patients referred to hospital with suspected colorectal cancer (CRC), it is current standard clinical practice to conduct an examination of the whole colon and rectum. However, studies have shown that an examination of the distal colorectum using flexible sigmoidoscopy (FS) can be a safe and clinically effective investigation for some patients. These findings require validation in a multicentre study.

A Comparison of PECS and iPad to Teach Requesting to Pre-schoolers with Autistic Spectrum Disorders.

Few studies have compared the efficacy of the Picture Exchange Communication System (PECS) and iPads used as speech generating devices (SGDs), and none have targeted preschoolers. This study compares the relative efficacy of PECS and an iPad/SGD with three preschool-aged children with autism spectrum disorder and limited functional speech who lived in Malta. The study utilized an adapted alternating treatment design embedded in a multiple baseline design, with requesting of reinforcers as the dependent variable.

Factors associated with failed polyp retrieval at screening colonoscopy.

Background: Colonoscopy reduces colorectal cancer mortality and morbidity principally by the detection and removal of colon polyps. It is important to retrieve resected polyps to be able to ascertain their histologic characteristics.

Objective: The aim of the study was to evaluate the cause of polyp retrieval failure.

Validation of a novel method for assessing competency in polypectomy.

Background: There is a gap in the formal assessment of technical skills in polypectomy that is now considered an integral part of colonoscopy. Polypectomy has been shown to reduce the incidence of colorectal cancer but does have associated complications. Polypectomy competency assessment should arguably be a part of the certification process for all endoscopists.

Development and validation of a novel method for assessing competency in polypectomy: direct observation of polypectomy skills.

Background: Despite its ubiquitous use over the past 4 decades, there is no structured, formal method with which to assess polypectomy.

Objective: To develop and validate a new method with which to assess competency in polypectomy.

Design: Polypectomy underwent task deconstruction, and a structured checklist and global assessment scale were developed (direct observation of polypectomy skills [DOPyS]).

Optical diagnosis of small colorectal polyps at routine colonoscopy (Detect InSpect ChAracterise Resect and Discard; DISCARD trial): a prospective cohort study.

Background: Accurate optical diagnosis of small (<10 mm) colorectal polyps in vivo, without formal histopathology, could make colonoscopy more efficient and cost effective. The aim of this study was to assess whether optical diagnosis of small polyps is feasible and safe in routine clinical practice.

Methods: Consecutive patients with a positive faecal occult blood test or previous adenomas undergoing surveillance at St Mark's Hospital (London, UK), from June 19, 2008, to June 16, 2009, were included in this prospective study.

The nurse colonoscopist--training and quality assurance.

Specialist trained nurses have been performing flexible sigmoidoscopy as part of their nursing role since the 1970s in the United States. As nurses have shown their efficacy and effectiveness in performing flexible sigmoidoscopy, this new nursing role has been adopted more globally in the United Kingdom and other European countries.