Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders.

Background: Copy number variants (CNVs) are established risk factors for neurodevelopmental disorders. To date the study of CNVs in psychiatric illness has focused on single disorder populations. The role of CNVs in individuals with intellectual disabilities and psychiatric comorbidities are less well characterised.

Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.

Background: Catatonia is a motor dysregulation syndrome co-occurring with a variety of psychiatric and medical disorders. Response to treatment with benzodiazepines and electroconvulsive therapy suggests a neurobiological background. The genetic etiology however remains largely unexplored.

Is the ulnar nerve damaged in 'handball goalie's elbow'?

'Handball goalie's elbow' has been defined as pain in the elbow region due to repetitive forced hyperextensions of the elbow. Goalkeepers are the players most often suffering from hyperextension trauma to the elbow in European team handball. They may complain of radiating pain or numbness in the ulnar aspect of the forearm in addition to local pain in the elbow region.

Fibre density in idiopathic ano-rectal incontinence.

Fibre density (FD) was measured in the external anal sphincter (EAS) in 54 patients with idiopathic anal incontinence and compared to normative data from a control group of 18 patients. The aim of the study was primarily to establish a diagnostic tool which could give an objective analysis of the anal sphincter muscles. Secondly, to examine whether or not FD was correlated to clinical symptoms of incontinence and manometric measurements from the anal canal.