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Genetic, molecular and functional analyses of complement factor I deficiency.

Complete deficiency of complement inhibitor factor I (FI) results in secondary complement deficiency due to uncontrolled spontaneous alternative pathway activation leading to susceptibility to infections. Current genetic examination of two patients with near complete FI deficiency and three patients with no detectable serum FI and also close family members revealed homozygous or compound heterozyg

In vitro selection of RNA aptamers against a conserved region of the Plasmodium falciparum erythrocyte membrane protein 1.

The var-gene encoding Plasmodium falciparum erythrocyte membrane protein 1 (PfEMP1) is known to play a major role in the pathogenicity of the P. falciparum parasite. The protein enables the parasite to adhere to the endothelial linings of small blood vessels (cytoadherence) as well as to non-infected erythrocytes (rosetting), thus preventing clearance from the bloodstream. The development and spre

Familial intestinal degenerative neuropathy associated with chronic intestinal pseudo-obstruction.

Background Few families with autosomal dominant forms of chronic idiopathic pseudo-obstruction (CIP) have been identified and reported. Methods We compared two families by clinical, laboratory, histopathologic, and genealogical investigations. Ten patients (pts) (five women) from two families, A and B, both with a family history suggesting autosomal dominant CIP, were investigated. Key Results All

Estimation of PAR over northern China from daily NOAA AVHRR cloud cover classifications

Incoming Photosynthetic Active Radiation (PAR) is an essential variable for modelling aboveground primary production of ecosystems through the light-use efficiency approach. A method is presented where daily classifications of cloud cover (CLAVR) from the NOAA AVHRR satellite sensor is used to estimate surface incident short wave (SW) flux from which PAR can be assessed. The study area is the Inne

High throughput sequencing reveals diversity of human papillomaviruses in cutaneous lesions.

There are at least 120 completely characterized human papillomavirus (HPV) types and putative new types are continuously found. Both squamous cell carcinoma of the skin (SCC) and other skin lesions commonly contain multiple cutaneous HPV types. The objective of this study was to achieve an improved resolution of the diversity of HPV types in lesions such as SCCs, actinic keratoses (AKs) and kerato

A tyrosine residue in the juxtamembrane segment of the platelet-derived growth factor beta-receptor is critical for ligand-mediated endocytosis

The importance of tyrosine residues in ligand-mediated endocytosis of the platelet-derived growth factor beta-receptor was analyzed using a series of tyrosine residue-mutated beta-receptors, which together cover all of the tyrosine residues in the juxtamembrane segment, the kinase insert, and the carboxyl-terminal tail; also certain of the tyrosine residues within the first and second parts of the

Thoughts on how to improve the quality of multicentre patch test studies.

Multicentre patch test studies (MPTSs) can contribute useful information for diagnostic and preventive measures. The aim of the present paper is to propose how to perform high-quality MPTSs. To this end, factors of significance for the patch test result are discussed with regard to the standardization and calibration of high-quality MPTSs. The 16 factors discussed are scored 0, 1, 2, or 3, dependi

Haemophilia in the first years of life.

Surgery in infants and young children with haemophilia, when preceded by accurate diagnosis and accompanied by safe and effective factor prophylaxis, is not associated with a significant risk of haemorrhage. Haemophilic newborns undergoing circumcision or major surgery prior to diagnosis and in the absence of appropriate haemostatic prophylaxis remain as a concern. Inhibitor development has replac

Pathogen specific, IRF3-dependent signaling and innate resistance to human kidney infection.

The mucosal immune system identifies and fights invading pathogens, while allowing non-pathogenic organisms to persist. Mechanisms of pathogen/non-pathogen discrimination are poorly understood, as is the contribution of human genetic variation in disease susceptibility. We describe here a new, IRF3-dependent signaling pathway that is critical for distinguishing pathogens from normal flora at the m

Robust correlation receiver for distance estimation

Many methods for distance estimation, such as the ultrasonic pulse-echo method, involve the estimation of a time-of-flight (TOF). In this paper, a signal model is developed that, apart from the TOF, accounts for an unknown, linear frequency dependent distortion as well as for additive noise. We derive a TOF estimator for this model based on the criteria of maximum likelihood. The resulting receive

The use of frequency-orthogonal pseudo-noise (FOPN) sounding signals for identifying transmissions from different transmit antennas

A method is described for identifying simultaneous signals from different transmit antennas in multiantenna sounders. Multiple-orthogonal signals are produced from one pseudonoise code by using it to modulate RF carriers at precalculated offset frequencies. Although their frequency spectra are interleaved and they occupy the same band, the spectral lines from different transmitters are separable a

A common variant in MTNR1B, encoding melatonin receptor 1B, is associated with type 2 diabetes and fasting plasma glucose in Han Chinese individuals.

AIMS/HYPOTHESIS: Recently, three groups independently reported that variation in MTNR1B, the gene encoding melatonin receptor 1B, was associated with an increased risk of type 2 diabetes, increased fasting plasma glucose and impaired insulin secretion in populations of European ancestry. In the present study, we investigated whether a single MTNR1B polymorphism was associated with type 2 diabetes

Characterisation and utility of thiopurine methyltransferase and thiopurine metabolite measurements in autoimmune hepatitis.

BACKGROUND & AIMS: Corticosteroids alone or in conjunction with azathioprine (AZA) is the standard treatment in autoimmune hepatitis (AiH). Individual variations in thiopurine (TP) metabolism may affect both drug efficacy and toxicity. Our aim was to investigate the utility of thiopurine methyltransferase (TPMT) as well as thioguanine nucleotide (TGN) and methylthioinosine monophosphate (meTIM

Abnormally decreased NO and augmented CO production in islets of the leptin-deficient ob/ob mouse might contribute to explain hyperinsulinemia and islet survival in leptin-resistant type 2 obese diabetes.

The role of the gaseous messengers NO and CO for β-cell function and survival is controversial. We examined this issue in the hyperglycemic-hyperinsulinemic ob/ob mouse, an animal model of type 2 obese diabetes, by studying islets from obese vs lean mice regarding glucose-stimulated insulin release in relation to islet NO and CO production and the influence of modulating peptide hormones. Glucose-

Inhibitory effect of kisspeptins on insulin secretion from isolated mouse islets.

Islet hormone secretion is regulated by a variety of factors, and many of these signal through G protein-coupled receptors (GPCRs). A novel islet GPCR is GPR54, which couples to the Gq isoform of G proteins, which in turn signal through the phospholipase C pathway. Ligands for GPR54 are kisspeptins, which are peptides encoded in the KISS1 gene and also expressed in islet beta-cells. The KISS1 gene