The waking action of histamine

Zusammenfassung Die i.v. Infusion von 1 mg Histamin-2 HCl in 30 ml bei einer konstanten Strömung von 1 ml/min während 30 min führt zu einer statistisch signifikanten Abnahme der spontanen kortikalen Delta-Aktivität beim Kaninchen. Dieser elektrographische Weck-Parameter, der gleichzeitig mit einer Desynchronisierung des EEG einhergeht, ist bedeutend grösser bei Kaninchen, die Histamin erhalten haben, als bei Kontrolltieren. Die Weckreaktion dauert nach Ende der Infusion weitere 30 min an. Gleichzeitig bewirkt Histamin ein geringfügiges, nicht signifikantes Absinken des arteriellen Blutdruckes, eine Zunahme der Herzfrequenz sowie ein leichtes Ansteigen der Atmungsfrequenz. Aus diesen Befunden geht hervor, dass Histamin bei unwichtigen visceralen Auswirkungen bei der Regulierung des Wach-Schlaf-Zustandes eine Rolle spielen könnte.     

Crystal symmetry and the reversibility of martensitic transformations

Martensitic transformations are diffusionless, solid-to-solid phase transitions, and have been observed in metals, alloys, ceramics and proteins. They are characterized by a rapid change of crystal structure, accompanied by the development of a rich microstructure. Martensitic transformations can be irreversible, as seen in steels upon quenching, or they can be reversible, such as those observed in shape-memory alloys. In the latter case, the microstructures formed on cooling are easily manipulated by loads and disappear upon reheating. Here, using mathematical theory and numerical simulation, we explain these sharp differences in behaviour on the basis of the change in crystal symmetry during the transition. We find that a necessary condition for reversibility is that the symmetry groups of the parent and product phases be included in a common finite symmetry group. In these cases, the energy barrier to lattice-invariant shear is generically higher than that pertaining to the phase change and, consequently, transformations of this type can occur with virtually no plasticity. Irreversibility is inevitable in all other martensitic transformations, where the energy barrier to plastic deformation (via lattice-invariant shears, as in twinning or slip) is no higher than the barrier to the phase change itself. Various experimental observations confirm the importance of the symmetry of the stable states in determining the macroscopic reversibility of martensitic transformations.     

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

Leber congenital amaurosis (LCA, MIM 204000) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram (ERG). Mutations in GUCY2D (ref. 3), RPE65 (ref. 4) and CRX (ref. 5) are known to cause LCA, but one study identified disease-causing GUCY2D mutations in only 8 of 15 families whose LCA locus maps to 17p13.1 (ref. 3), suggesting another LCA locus might be located on 17p13.1. Confirming this prediction, the LCA in one Pakistani family mapped to 17p13.1, between D17S849 and D17S960-a region that excludes GUCY2D. The LCA in this family has been designated LCA4 (ref. 6). We describe here a new photoreceptor/pineal-expressed gene, AIPL1 (encoding aryl-hydrocarbon interacting protein-like 1), that maps within the LCA4 candidate region and whose protein contains three tetratricopeptide (TPR) motifs, consistent with nuclear transport or chaperone activity. A homozygous nonsense mutation at codon 278 is present in all affected members of the original LCA4 family. AIPL1 mutations may cause approximately 20% of recessive LCA, as disease-causing mutations were identified in 3 of 14 LCA families not tested previously for linkage.     

Spiranation of phenolic diazoketones: An intermediate towards acorone synthesis

Summary Syntheses of 4-methylspiro [4.5]deca-6, 9-diene-2, 8-dione (IIb) and 1,4-dimethylspiro [4.5]deca-6, 9-diene-2, 8-dione (IIc) by spiranation of phenolic diazoketones (Ib) and (Ic) respectively are reported. Formation of (IIc) illustrates the first aryl participation of phenolic diazoketone prepared from higher homologue of diazomethane.     

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

Retinitis pigmentosa (RP) is a group of retinal degeneration characterized by progressive visual field loss, night blindness and pigmentary retinopathy. Its prevalence is in the region of 1-2 in 5,000 of the general population, making it one of the commoner causes of blindness in early and middle life. Although 36-48% of RP patients are isolated cases, the remainder show autosomal dominant, autosomal recessive or X-linked modes of inheritance. The X-linked variety ( XLRP ) is found in 14-22% of RP families in the UK. In the present study, X chromosome-specific recombinant DNA probes which can detect restriction fragment length polymorphisms have been used to localize the XLRP gene(s) to a subregion of the X chromosome using linkage analysis. One of the probes, L1.28, has been shown to be closely linked to XLRP in five kindreds, with 95% confidence limits of 0-15 centimorgans (maximum LOD score of 7.89 at a distance of 3 centimorgans). This suggests that the XLRP locus lies on the proximal part of the short arm of the X chromosome. This probe is potentially useful for carrier detection and early diagnosis in about 40% of cases, provided that genetic heterogeneity can be excluded by analysis of further families.     

Evaluation of factors affecting the edge formability of two hot rolled multiphase steels

In this study, the effect of various factors on the hole expansion ratio and hence on the edge formability of two hot rolled multiphase steels, one with a ferrite-martensite microstructure and the other with a ferrite-bainite microstructure, was investigated through systematic microstructural and mechanical characterization. The study revealed that the microstructure of the steels, which determines their strain hardening capacity and fracture resistance, is the principal factor controlling edge formability. The influence of other factors such as tensile strength, ductility, anisotropy, and thickness, though present, are secondary. A critical evaluation of the available empirical models for hole expansion ratio prediction is also presented.     

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

Using a positional cloning approach supported by comparative genomics, we have identified a previously unreported gene, EYS, at the RP25 locus on chromosome 6q12 commonly mutated in autosomal recessive retinitis pigmentosa. Spanning over 2 Mb, this is the largest eye-specific gene identified so far. EYS is independently disrupted in four other mammalian lineages, including that of rodents, but is well conserved from Drosophila to man and is likely to have a role in the modeling of retinal architecture.