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Autosomal recessive lamellar ichthyosis (LI) is a rare inherited disease of cornification of the skin. Recently, the gene responsible for type I LI has been identified and mutations have been described. The identification of mutations in families at risk for LI allows a precise and rapid prenatal diagnosis. A family with a previously unreported mutation is described and a prenatal diagnosis based

Regulation of proteolysis is a critical element of the host immune system and plays an important role in the induction of pro- and anti-inflammatory reactions in response to infection. Some bacterial species take advantage of these processes and recruit host proteinases to their surface in order to counteract the host attack. Here we show that Thrombin-activatable Fibrinolysis Inhibitor (TAFI), a

Olf-1/early B-cell factor (O/E-1) is a transcription factor important for B-lymphocyte and neuronal gene regulation. Here we report that all three known O/E genes (O/E-1, -2, and -3) are expressed in mouse adipose tissue and are upregulated during adipocyte differentiation. Forced expression of O/E-1 in either the preadipocyte cell line 3T3-L1 or mouse embryonic fibroblasts augmented adipogenesis,

Background: Erectile dysfunction is associated with, and may be the first sign of coronary artery disease. We aimed to assess whether men with erectile dysfunction but without cardiovascular disease have reduced coronary flow reserve, as a sign of early coronary atherosclerosis. Methods: We investigated 12 men aged 68-73 years with erectile dysfunction, and 12 age-matched controls. Erectile functi

The ethanol production cost in a simultaneous saccharification and fermentation-based bioethanol process is influenced by the requirements for yeast production and for enzymes. The main objective of this study was to evaluate-technically and economically-the influence of these two factors on the production cost. Abase case with 5 g/L of baker's yeast and an initial concentration of water-insoluble

Citrate synthase (CS) is often used in chaperone assays since this thermosensitive enzyme aggregates at moderately increased temperatures. Small heat shock proteins (sHsps) are molecular chaperones specialized in preventing the aggregation of other proteins, termed substrate proteins, under conditions of transient heat stress. To investigate the mechanism whereby sHsps bind to and stabilize a subs

We study virtual path layouts in ATM networks. Packets are routed along virtual paths in the network by maintaining a routing field whose subfields determine intermediate destinations of the packet, i.e., the endpoints of virtual paths on its way to the final destination. Most of the research on virtual path layouts has focused on tradeoffs between load (i.e., the maximum number of virtual paths p

The articulating surfaces of 6 ultra-high molecular weight polyethylene cups were exposed to curing polymethyl methacrylate (PMMA) bone-cement and examined with scanning electron microscopy and laser ablation inductively coupled plasma mass spectrometry (LA-ICPMS). Three of the cups were exposed to blood and bone-cement, and the rest were exposed to bone-cement only. After removal of the bone-ceme

he evolution of magnetic resonance imaging (MRI) has been astounding since the early 1980s, and a broad range of applications has emerged. To date, clinical imaging of nuclei other than protons has been precluded for reasons of sensitivity. However, with the recent development of hyperpolarization techniques, the signal from a given number of nuclei can be increased as much as 100,000 times, suffi

Background: A DGGE-based assay for hepatitis B virus (HBV) drug-resistance monitoring was designed and checked for feasibility. It detects mutations within the YMDD motif related to lamivudine resistance. Material/Methods: The YMDD motif of HBV polymerase was amplified by the set of primers designed in this study. DGGE analysis of the amplicons was performed on 9% polyacrylamide gels containing a

Some large ecological studies have noted a significant association of testicular cancer (TC) with maternal smoking during pregnancy, while several more controlled studies have been negative. It has been difficult to obtain reliable data on exposure because of the long lag time to cancer diagnosis. We performed a case-control study nested within Finnish, Swedish and Icelandic maternity cohorts expl

Using bulk tissue and fatty acid 13C analysis we investigated major trophic pathways from soil microorganisms to microbial consumers to predators in conventional versus organic farming systems planted for the first time with maize. Organic farming led to an increase in microbial biomass in particular that of fungi as indicated by phospholipid fatty acids (PLFAs). Microbial PLFAs reflected the conv

Almond beta-glucosidase was used to catalyze the transglycosylation of p-nitrophenyl-beta-D-glucoside to alkyl glucosides, with hydrolysis to glucose as a side reaction. The conversions were carried out in alcohols with varying water contents below water saturation. Both the total reaction rate and the ratio between the transglycosylation and hydrolysis increased with increasing water activity, an

Objective: Roquinimex is a modulator of the immune system and has been shown to attenuate induction of several inflammatory and autoimmune diseases. The objective of the present study was to determine the efficacy of roquinimex in a model of murine colitis. Materials and methods: For this purpose, Balb/c mice were exposed to 5% dextran sodium sulfate (DSS) in the drinking water for five to six day

Acute otitis media (AOM), one of the most common childhood diseases, is associated with a substantial medical, social and economic burden. Non-typeable Haemophilus influenzae (NTHi) and Streptococcus pneumoniae are the two main causes of bacterial OM. The 7-valent pneumococcal CRM197-conjugate vaccine (7vCRM, Prevnar (TM)/Prevenar (TM), Wyeth) demonstrated efficacy against AOM caused by vaccine pn

Sildenafil (Viagra((R))), a selective inhibitor of phosphodiesterase 5 (PDE5), induces headache and migraine. Although previously supposed to be a "vascular" headache, no significant cerebral artery dilatation was found in vivo. Thus, we hypothesised that PDE5 may not be present or that sildenafil is less effective on the cGMP hydrolysis in cerebral arteries, and that sildenafil may not be an effe