Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders

Autism spectrum disorder (ASD) represents a set of neurodevelopmental disorders with a strong genetic aetiology. Chromosomal rearrangements have been detected in 5–10% of the patients with ASD, and recent applications of array comparative genomic hybridisation (aCGH) are identifying further candidate regions and genes. In this study, we present four patients who implicate microcephalin 1 ( MCPH1) in band 8p23.1 as an ASD susceptibility gene. Patient 1 was a girl with a syndromic form of autistic disorder satisfying the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS) and Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria. Oligonucleotide aCGH (oaCGH) showed that she had a classic inv dup del(8)(qter-> p23.1::p23.1-> p21.2) containing at least three candidate genes; MCPH1 and DLGAP2 within the 6.9-Mb terminal deletion and NEF3 within the concomitant 14.1-Mb duplication. Three further patients with MCPH1 copy number changes were found using single-nucleotide polymorphism (SNP) array analysis in a cohort of 54 families with ASD patients. Our results show that ASD can be a component of the classical inv dup del(8) phenotype and identify changes in copy number of MCPH1 as a susceptibility factor for ASD in the distal short arm of chromosome 8.     

Synthetic corneal inlays

This review is based on the activities of the Vision Cooperative Research Centre (previously Cooperative Research Centre for Eye Research and Technology) Corneal Implant team from 1991 to 2007. The development of a synthetic polymer of perfluoropolyether (PFPE), meeting essential physical and biological requirements, for use as a corneal inlay is presented. Each inlay was placed in a corneal flap created with a microkeratome and monitored over a two‐year period in a rabbit model. The results indicate that the PFPE implant shows excellent biocompatibility and biostability. As a result, a Phase 1 clinical trial is being conducted. Three years post‐implantation, the PFPE inlays are exhibiting continued excellent biocompatibility. Corneal inlays made from PFPE are biocompatible with corneal tissue in the long term and offer a safe and biologically‐acceptable alternative to other forms of refractive surgery.     

Major Determinants of Consumer Satisfaction with Primary Care in Different Health Systems

It is becoming increasingly recognized that patient or ‘consumer’views should be taken into account as part of a comprehensiveassessment of quality of care. This paper reports a study carriedout in four European countries about consumer satisfaction withprimary care. The results showed that higher levels of generalsatisfaction with general practitioner services were found inCanterbury (95%) and loannina (87%) than Belgrade (85%) andMoscow (62%). Further analysis of the data showed that in allfour cities the key dimensions of satisfaction with generalpractitioner care are both the nature in quality of the doctor-patientrelationship and the GP's professional skills. The implicationsof these findings are discussed.