Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

Joubert syndrome is a congenital brain malformation of the cerebellar vermis and brainstem with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal tract and superior cerebellar peduncles. Individuals with Joubert syndrome have motor and behavioral abnormalities, including an inability to walk due to severe clumsiness and 'mirror' movements, and cognitive and behavioral disturbances. Here we identified a locus associated with Joubert syndrome, JBTS3, on chromosome 6q23.2-q23.3 and found three deleterious mutations in AHI1, the first gene to be associated with Joubert syndrome. AHI1 is most highly expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Comparative genetic analysis of AHI1 indicates that it has undergone positive evolutionary selection along the human lineage. Therefore, changes in AHI1 may have been important in the evolution of human-specific motor behaviors.     

Lysosomal mutations increase susceptibility to anaesthetics

The anaesthetic responses of homozygous mutant mice were compared with those of their normal heterozygous littermates. The two recessive mutations studied were beige (bg) and reduced pigmentation (rp). Homozygosity for either significantly increased the sleeping time of both sexes after treatment with pentobarbital, tribromoethanol or the steroid anaesthetic alphaxalone.     

A Study of Melt Flow Analysis of an ABS-Iron Composite in Fused Deposition Modelling Process

Fused deposition modelling (FDM) is a filament based rapid prototyping system which offers the possibility of introducing new composite material for the FDM process as long as the new material can be made in feedstock filament form. Swinburne has been undertaking extensive research in development of new composite materials involving acrylonitrile-butadiene-styrene (ABS) and other materials including metals. In order to predict the behaviour of new ABS based composite materials in the course of FDM process, it is necessary to investigate the flow of the composite material in liquefier head. No such study is available considering the geometry of the liquefier head. This paper presents 2-D and 3-D numerical analysis of melt flow behaviour of a representative ABS-iron composite through the 90-degree bent tube of the liquefier head of the fused deposition modelling process using ANSYS FLOTRAN and CFX finite element packages. Main flow parameters including temperature, velocity, and pressure drop have been investigated. Filaments of the filled ABS have been fabricated and characterized to verify the possibility of prototyping using the new material on the current FDM machine. Results provide promising information in developing the melt flow modelling of metal-plastic composites and in optimising the FDM parameters for better part quality with such composites.     

Pathological changes in inbred strains of mice following early thymectomy and irradiation

Summary Mice subjected to thymectomy and irradiation were found to develop a range of pathological change in various organs. These changes were accompanied by antibodies to a variety of self-components. The pattern of pathological and autoimmune change was found to vary with the strain. This strain-related expression did not appear to be associated with the major histocompatibility complex (H-2).This study was partly supported by the National Health and Medical Research Council of Australia.Author for correspondence and reprint requests.     

Structural and optical properties of Cr doped ZnO crystalline thin films deposited by reactive electron beam evaporation technique

ZnO and Cr-doped ZnO thin films are grown on to glass substrates using reactive electron beam(e-beam) evaporation technique.Variation of structural,morphological,and optical properties with Cr doping is investigated.X-ray diffraction(XRD) studies show that the films are polycrystalline in nature with single phase.Energy dispersive spectroscopy(EDS) results demonstrate that Cr ions are substitutionally incorporated into ZnO.Atomic force microscopy(AFM) reveals that the films present a compact surface and root mean squared(RMS) roughness increased with Cr contents.The optical band gap energy Eg of the films has been determined using Transmission data by spectrophotometer and ellipsometry.The band gap energy found to be decreased with increasing Cr doping concentration.The optical constants(refractive index,extinction coefficient) are calculated using ellipsometry and found to increase with Cr doping concentration.