Search results for "DEFICIENCY"
showing 10 items of 1071 documents
Prophylaxis In Congenital Factor VII Deficiency, Indications, Efficacy and Safety: Results of the STER
2010
Abstract Abstract 665 Introduction Prophylaxis is considered a difficult endeavour in FVII deficiency, especially because of the very short FVII zymogen and FVIIa half-lives, mainly in childhood. The Seven Treatment Evaluation Registry (STER, www.targetseven.org) is a prospective observational, multi-centre, web-based registry concerned with the evaluation of treatments for spontaneous bleeding episodes, surgery and prophylaxis in patients with FVII deficiency. As regards prophylaxis, STER provides the frame for a structured and detailed data capture aiming at: a) identifying patients in whom prophylaxis is advisable, b) defining clinical settings in which prophylaxis is necessary and c) de…
Detection of mutations in the apolipoprotein CII gene by denaturing gradient gel electrophoresis. Identification of the splice site variant apolipopr…
1998
AbstractFamilial apolipoprotein (apo) CII deficiency is a rare autosomal recessive inborn error of metabolism clinically resembling lipoprotein lipase deficiency. A number of mutations of the apo CII gene are known to date; they are located in the promoter region, the coding exons, or in the splice junctions. We present a simple assay based on PCR and denaturing gradient gel electrophoresis, which allows scanning of the promoter, the entire coding sequence, and the splice junctions of the apo CII gene for sequence variants. All gene fragments are amplified using a common PCR protocol and are examined for mutations on a single gradient gel. Using this method and direct sequencing, we identif…
Immune characterization of the HBHA-specific response in Mycobacterium tuberculosis-infected patients with or without HIV infection.
2017
Introduction RD1-based Interferon-γ Release Assays (IGRAs) cannot distinguish latent from active tuberculosis (TB) disease. Conversely, a positive response to heparin-binding haemagglutinin (HBHA)-based IGRAs, among TB-infected subjects, correlates with Mycobacterium tuberculosis (Mtb) containment and low risk of TB progression. The aim of this study was to characterize HBHA-immune responses in HIV-infected and uninfected subjects with active TB or latent TB infection (LTBI). Methods 49 subjects were prospectively enrolled: 22 HIV-uninfected (13 TB, 9 LTBI) and 27 HIV-infected (12 HIV-TB, 15 HIV-LTBI). Whole blood and peripheral blood mononuclear cells were stimulated with HBHA and RD1 anti…
C1q acts in the tumour microenvironment as a cancer-promoting factor independently of complement activation
2015
Complement C1q is the activator of the classical pathway. However, it is now recognized that C1q can exert functions unrelated to complement activation. Here we show that C1q, but not C4, is expressed in the stroma and vascular endothelium of several human malignant tumours. Compared with wild-type (WT) or C3- or C5-deficient mice, C1q-deficient (C1qa−/−) mice bearing a syngeneic B16 melanoma exhibit a slower tumour growth and prolonged survival. This effect is not attributable to differences in the tumour-infiltrating immune cells. Tumours developing in WT mice display early deposition of C1q, higher vascular density and an increase in the number of lung metastases compared with C1qa−/− mi…
Low vitamin D levels increase the risk of type 2 diabetes in older adults: A systematic review and meta-analysis
2017
Low serum levels of 25 hydroxyvitamin D (25OHD) (hypovitaminosis D) is common in older adults and associated with several negative outcomes. The association between hypovitaminosis D and diabetes in older adults is equivocal, however. We conducted a meta-analysis investigating if hypovitaminosis D is associated with diabetes in prospective studies among older participants. Two investigators systematically searched major electronic databases, from inception until 10/07/2016. The cumulative incidence of diabetes among groups was estimated according to baseline serum 25OHD levels. Random effect models were used to assess the association between hypovitaminosis D and diabetes at follow-up. From…
DNASE1L3 Deficiency, New Phenotypes and Evidence for a Transient Type I Interferon Signaling
2021
Introduction: Deoxyribonuclease 1 like 3 (DNASE1L3) is a secreted enzyme that has been shown to digest the extracellular chromatin derived from apoptotic bodies, and DNASE1L3 pathogenic variants have been associated to a lupus phenotype. It is unclear whether interferon signaling is sustained in DNASE1L3 deficiency in humans. Objectives: Here, we report on four patients with pathogenic variations in DNASE1L3, including 2 previously undescribed causal variants, and expand the phenotype from SLE to vasculitis with gut involvement. To explore whether or not the interferon cascade was strongly and sustainably induced, Interferon stimulated genes (ISGs) expression was assessed for each patient. …
Evolutionary plasticity of SH3 domain binding by Nef proteins of the HIV-1/SIVcpz lentiviral lineage
2021
ABSTRACTThe accessory protein Nef of human and simian immunodeficiency viruses (HIV and SIV) is an important pathogenicity factor known to interact with cellular protein kinases and other signaling proteins. A canonical SH3 domain binding motif in Nef is required for most of these interactions. For example, HIV-1 Nef activates the tyrosine kinase Hck by tightly binding to its SH3 domain. An archetypal contact between a negatively charged SH3 residue and a highly conserved arginine in Nef (Arg77) plays a key role here. Combining structural analyses with functional assays, we here show that Nef proteins have also developed a distinct structural strategy - termed the “R-clamp” - that favors th…
Genotypic analysis at multiple loci across Kaposi's sarcoma herpesvirus (KSHV) DNA molecules: clustering patterns, novel variants and chimerism
2001
Abstract Background: the genomes of human Kaposi's sarcoma-associated herpesvirus (KSHV) display several levels of DNA sequence heterogeneity and subgrouping that show distinctive clustering patterns in related human populations. The four major subtype patterns for the hypervariable ORF-K1 protein correlate closely with the principal diasporas resulting from the migration of modern humans out of East Africa and suggest that KSHV is an ancient human virus that is transmitted primarily in a familial fashion with consequent very low recombination rates. However, chimeric genomes have also been detected, especially with regard to the presence of P versus M alleles of the ORF-K15 gene. Objective…
EXCITONS, LOCALIZED STATES IN SILICON DIOXIDE AND RELATED CRYSTALS AND GLASSES
2000
The excitons, localized states in crystalline and glassy silicon dioxide, germanium dioxide were studied by photoluminescent and photoelectric experimental methods. Results were compared with analogous investigations of related crystals, such as aluminum and gallium orthophosphates, and of related glasses, such as silica, sodium silicates, germanates, lead and phosphates glasses. Special attention was made to the influence of oxygen deficiency on localized states of glasses, in general, and to the nature of the 7.6 eV band in reduced silica, in particular.
Trends in HIV sexual prevention: Attitudinal beliefs and behavioral intention in Spanish young people over the past two decades (1999-2020).
2022
Abstract Despite preventive efforts, HIV exposure is still a concern for public health. The current prevalence is related to unsafe sex, which is based on socio-cognitive variables. Therefore, information about these variables is required to verify whether the past preventive strategies have been effective and improve the future ones. However, there is not updated information to adjust future preventive interventions. For this reason, this study analyzes trends by gender in Spanish young people over the past two decades in perceived susceptibility to HIV, severity perceived to HIV, condom confidence and the intention of condom use, from 1999 to 2020. For this purpose, 11,665 Spanish young p…