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Thrombophilia as a multigenic disease

BACKGROUND AND OBJECTIVE: Venous thrombosis is a common disease annually affecting 1 in 1000 individuals. The multifactorial nature of the disease is illustrated by the frequent identification of one or more predisposing genetic and/or environmental risk factors in thrombosis patients. Most of the genetic defects known today affect the function of the natural anticoagulant pathways and in particul

N-acetylcysteine normalizes neurochemical changes in the glutathione-deficient schizophrenia mouse model during development

BACKGROUND: Glutathione (GSH) is the major cellular redox-regulator and antioxidant. Redox-imbalance due to genetically impaired GSH synthesis is among the risk factors for schizophrenia. Here we used a mouse model with chronic GSH deficit induced by knockout (KO) of the key GSH-synthesizing enzyme, glutamate-cysteine ligase modulatory subunit (GCLM).METHODS: With high-resolution magnetic resonanc

A new direct, fast and quantitative enzyme-linked ligandsorbent assay for measurement of free protein S antigen

A new method to determine the concentration of the free protein S in plasma is described. It is an enzyme-linked ligandsorbent assay (ELSA) which utilises the protein S binding capacity of the natural ligand C4b-binding protein (C4BP) to capture the free protein S from plasma samples. The use of C4BP as ligand in the assay is possible due to the high affinity (Kd = 0.1 nM) of the interaction betwe

Neurochemical profile of the developing mouse cortex determined by in vivo 1H NMR spectroscopy at 14.1 T and the effect of recurrent anaesthesia

The neurochemical profile of the cortex develops in a region and time specific manner, which can be distorted by psychiatric and other neurological pathologies. Pre-clinical studies often involve experimental mouse models. In this study, we determined the neurochemical profile of C57BL/6 mice in a longitudinal study design to provide a reference frame for the normal developing mouse cortex. Using

The neurochemical profile quantified by in vivo 1H NMR spectroscopy

Proton NMR spectroscopy is emerging from translational and preclinical neuroscience research as an important tool for evidence based diagnosis and therapy monitoring. It provides biomarkers that offer fingerprints of neurological disorders even in cases where a lesion is not yet observed in MR images. The collection of molecules used as cerebral biomarkers that are detectable by (1)H NMR spectrosc

Characterization of cerebral glucose dynamics in vivo with a four-state conformational model of transport at the blood-brain barrier

Determination of brain glucose transport kinetics in vivo at steady-state typically does not allow distinguishing apparent maximum transport rate (T(max)) from cerebral consumption rate. Using a four-state conformational model of glucose transport, we show that simultaneous dynamic measurement of brain and plasma glucose concentrations provide enough information for independent and reliable determ

Resistance to activated protein C caused by a factor V gene mutation

Each year, approximately one in 1000 individuals suffers from venous thromboembolism. The pathogenesis of the disease is multifactorial and a thrombotic event is the result of a combination of genetic and circumstantial risk factors. Until recently, genetic defects could only be identified in a minority of thrombosis patients. The discovery of inherited resistance to activated protein C as a risk

A novel thrombomodulin gene mutation in a patient suffering from sagittal sinus thrombosis

Thrombomodulin is an endothelial cell membrane glycoprotein that promotes protein C activation. It has been clearly demonstrated that the anticoagulant functions of the protein C system are important in the prevention of thromboembolic disease. Patients with protein C or protein S deficiency and/or resistance to activated protein C (APC resistance) are at higher risk for developing thromboembolic

Inherited resistance to activated protein C caused by presence of the FV:Q506 allele as a basis of venous thrombosis

Inherited resistance to activated protein C (APC) was recently discovered as a cause of familial thrombophilia and is now known to be the most common genetic risk factor for venous thrombosis. In a majority of cases, APC resistance is associated with a single point mutation in the factor V gene, which results in substitution of arginine (R) at position 506 by glutamine (Q) (FV:Q506). The mutation

Plasma stem cell factor levels are associated with risk of cardiovascular disease and death

OBJECTIVE: Stem cell factor (SCF) is a key growth factor for several types of stem and progenitor cells. There is experimental evidence that such cells are of importance for maintaining the integrity of the cardiovascular system. We investigated the association between circulating levels of SCF and risk for development of cardiovascular events and death.METHODS: SCF was analysed by the proximity e

Regulation of phosphate acquisition in Saccharomyces cerevisiae

Membrane transport systems active in cellular inorganic phosphate (P(i)) acquisition play a key role in maintaining cellular P(i) homeostasis, independent of whether the cell is a unicellular microorganism or is contained in the tissue of a higher eukaryotic organism. Since unicellular eukaryotes such as yeast interact directly with the nutritious environment, regulation of P(i) transport is maint

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Abstract in Bosnian:Raširenost vladajućih normi u društvu u kontekstu rata, okupacije, anarhije i preuzimanja vlasti od strane kriminalnih snaga uništava stare, ali postavlja nove norme, koje takođe mogu biti odbačene. Anomija se može opisati kao nukleus društva, kao vrsta „pulsirajuće moralne destrukcije” koju niko ne kontroliše, ali koja paradoksalno proizvodi socijalni red. Anomija se ne rađa i

En svensk modell för civilsamhället? Organisationer inom det sociala området

Kapitlet presenterar en omfattande kvantitativ studie av det organiserade civila samhället i Sverige som genomförts genom en enkätstudie riktad till organisationer aktiva inom det sociala området. Mer än 1700 organisationers aktiviteter, resurser och finansiering samt hur de upplever relationen med det offentliga analyseras med hjälp av resultaten från enkäten. Resultaten jämförs med och diskutera

Protection of Women Employees Before and After Childbirth in Turkish Employment Law

Turkey has recently been undergoing a period in which the laws have been changing rapidly to adapt legislation to European Union (EU) directives and International Labour Organization (ILO) standards. In this respect, the Employment Act, No. 4857/2003, attempted to introduce provisions parallel to EU regulations on the protection of employees who are pregnant, have just given birth or are breastfee

Unfair Dismissal in Turkish Employment Law

Under the previous Employment Act No. 1475 employers had the right to dismiss any employee as they saw fit and there was no reinstatement for unfair or unjustified dismissal. However in the context of the national policy of harmonization with the European Union, the Turkish government introduced a new Act on job security (No. 4773). Then a new Employment Act (No. 4857), which included job security