A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characterized by low vision, photophobia, and lack of color discrimination. Herein we report the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia. Moreover, we show that the spontaneous mouse mutant cpfl1 that features a lack of cone function and rapid degeneration of the cone photoreceptors represents a homologous mouse model for PDE6C associated achromatopsia.     

Über Künstliche Hypoprothrombinämie und Ihre Therapeutischen Anwendungsmöglichkeiten

Zusammenfassung Es wird über die künstliche Hypoprothrombinämie durch Cumarinderivate berichtet.     

Longer average blood storage duration is associated with increased risk of infection and overall morbidity following radical cystectomy

Background

Patients with bladder cancer undergoing radical cystectomy (RC) experience high rates of perioperative blood transfusions (PBTs) and morbidity. The aim of this study was to evaluate the effect of blood storage duration on the risk of adverse perioperative outcomes in this high-risk patient population.

CaMKII control of spine size and synaptic strength: Role of phosphorylation states and nonenzymatic action

CaMKII is an abundant synaptic protein strongly implicated in plasticity. Overexpression of autonomous (T286D) CaMKII in CA1 hippocampal cells enhances synaptic strength if T305/T306 sites are not phosphorylated, but decreases synaptic strength if they are phosphorylated. It has generally been thought that spine size and synaptic strength covary; however, the ability of CaMKII and its various phosphorylation states to control spine size has not been previously examined. Using a unique method that allows the effects of overexpressed protein to be monitored over time, we found that all autonomous forms of CaMKII increase spine size. Thus, for instance, the T286D/T305D/T306D form increases spine size but decreases synaptic strength. Further evidence for such dissociation is provided by experiments with the T286D form that has been made catalytically dead. This form fails to enhance synaptic strength but increases spine size, presumably by a structural process. Thus very different mechanisms govern how CaMKII affects spine structure and synaptic function.     

Erste Erfahrungen mit der Viabahn-Endoprothese mit propatenbioaktiver Oberfläche bei einem kurzstreckigen Verschluss der A. poplitea

Femorodistal occlusion can be treated with bypasses or even with endovascular methods nowadays. The TransAtlantic Inter-Society Consensus (TASC) paper recommends the endovascular option for short occlusions up to 5 cm. The primary patency rates for both options are moderate: 70–80%. Since August 2007, the Viabahn Endoprosthesis with Propaten bioactive surface has been in clinical use. In open surgery, the surface activation by means of Propaten can improve the patency rates of femorodistal bypasses up to 97% during the first year after implantation. We show that implantation of the Viabahn Endoprosthesis is feasible; however, because midterm and long-term results are lacking, the patients should be followed up closely.     

Histaminergic and dopaminergic traits in the human carotid body

Carotid body (CB) chemoreceptors are the main sensors detecting systemic hypoxia. Studies in animals revealed that dopamine and histamine may serve as transmitters between the chemoreceptor cells and the afferent nerve. To gain insight whether histamine and dopamine could play a role in the human CB and thus be important for the understanding of breathing disorders, we have investigated the chemosensory traits in human CBs from nine subjects of different ages obtained at autopsy. Immunohistochemistry revealed expression of histidine decarboxylase, vesicular monoamine transporter 2, histamine receptors 1 and 3 in virtually all chemosensory cells within the glomeruli of different ages. By contrast, catecholaminergic traits (tyrosine hydroxylase and vesicular monoamine transporter 1) were only detected in a subset of CB chemosensory cells at each age group while dopamine D2 receptors were expressed in the great majority of them. Our data suggest that histamine along with catecholamines may serve as transmitters between chemoreceptor cells and the afferent nerve in humans as well.     

Metabolic cycling in single yeast cells from unsynchronized steady-state populations limited on glucose or phosphate

Oscillations in patterns of expression of a large fraction of yeast genes are associated with the “metabolic cycle,” usually seen only in prestarved, continuous cultures of yeast. We used FISH of mRNA in individual cells to test the hypothesis that these oscillations happen in single cells drawn from unsynchronized cultures growing exponentially in chemostats. Gene-expression data from synchronized cultures were used to predict coincident appearance of mRNAs from pairs of genes in the unsynchronized cells. Quantitative analysis of the FISH results shows that individual unsynchronized cells growing slowly because of glucose limitation or phosphate limitation show the predicted oscillations. We conclude that the yeast metabolic cycle is an intrinsic property of yeast metabolism and does not depend on either synchronization or external limitation of growth by the carbon source.