33 research outputs found

    Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis

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    Familial microscopic hematuria (FMH) is associated with a genetically heterogeneous group of conditions including the collagen-IV nephropathies, the heritable C3/CFHR5 nephropathy and the glomerulopathy with fibronectin deposits. The clinical course varies widely, ranging from isolated benign familial hematuria to end-stage renal disease (ESRD) later in life. We investigated 24 families using Next Generation Sequencing (NGS) for five genes: COL4A3, COL4A4, COL4A5, CFHR5 and FN1. In 17 families (71%), we found 15 pathogenic mutations in COL4A3/A4/A5, nine of them novel. In five families patients inherited classical AS with hemizygous X-linked COL4A5 mutations. Even more patients developed later-onset Alport-related nephropathy having inherited heterozygous COL4A3/A4 mutations that cause thin basement membranes. Amongst 62 heterozygous or hemizygous patients, eight (13%) reached ESRD, while 25% of patients with heterozygous COL4A3/A4 mutations, aged >50-yrs, reached ESRD. In conclusion, COL4A mutations comprise a frequent cause of FMH. Heterozygous COL4A3/A4 mutations predispose to renal function impairment, supporting that thin basement membrane nephropathy is not always benign. The molecular diagnosis is essential for differentiating the X-linked from the autosomal recessive and dominant inheritance. Finally, NGS technology is established as the gold standard for the diagnosis of FMH and associated collagen-IV glomerulopathies, frequently averting the need for invasive renal biopsies

    A barrier to homologous recombination between sympatric strains of the cooperative soil bacterium Myxococcus xanthus

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    The bacterium Myxococcus xanthus glides through soil in search of prey microbes, but when food sources run out, cells cooperatively construct and sporulate within multicellular fruiting bodies. M. xanthus strains isolated from a 16 × 16-cm-scale patch of soil were previously shown to have diversified into many distinct compatibility types that are distinguished by the failure of swarming colonies to merge upon encounter. We sequenced the genomes of 22 isolates from this population belonging to the two most frequently occurring multilocus sequence type (MLST) clades to trace patterns of incipient genomic divergence, specifically related to social divergence. Although homologous recombination occurs frequently within the two MLST clades, we find an almost complete absence of recombination events between them. As the two clades are very closely related and live in sympatry, either ecological or genetic barriers must reduce genetic exchange between them. We find that the rate of change in the accessory genome is greater than the rate of amino-acid substitution in the core genome. We identify a large genomic tract that consistently differs between isolates that do not freely merge and therefore is a candidate region for harbouring gene(s) responsible for self/non-self discrimination

    The insect pathogenic bacterium Xenorhabdus innexi has attenuated virulence in multiple insect model hosts yet encodes a potent mosquitocidal toxin

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    Formulation, characterization and antimicrobial activity of tablets of essential oil prepared by compression of spray-dried powder

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    Oregano essential oil (EO) was encapsulated by spray drying emulsions stabilized with polysaccharides. Both, emulsions and spray-dried powder (SDP) were characterized physicochemically and SDP was compressed into tablets with low (10% w/w) and high (20% w/w) EO content. Compression behavior, redispersibility and release of EO were studied. Antimicrobial activity of reconstituted emulsions was evaluated by disc diffusion and broth dilution. SDP showed good EO encapsulation efficiency and retained high carvacrol content. SDP with low EO content formed strong tablets, whereas SDP with high EO formed weaker tablets but with acceptable mechanical strength and friability. Oil leakage due to compression was negligible. Reconstitution of original emulsion was faster from the SDP than the tablets and the use of disintegrants did not show improvement. Interestingly, addition of croscarmellose sodium (CCS) greatly increased the release rate of EO from tablets despite lack of effect on redispersibility, possibly due to fast liquid uptake/swelling by the CCS fibres combined with repulsion between negatively charged carboxyl groups on CCS and gum Arabic resulting in opening of the microencapsulating wall. Sodium starch glycolate had small effect on release. The antimicrobial activity of reconstituted emulsions relative to neomycin ranked in the order: E coli < Klebsiella sp < S aureus < P mirabilis. © 2019 Elsevier B.V

    Spirulina as a functional ingredient in broiler chicken diets

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    In recent years there has been increased interest in the production of novel functional foods by utilizing eco-friendly materials and methods. Therefore, the present study was undertaken to determine the effects of dietary spirulina (Spirulina platensis), a blue-green microalga, on growth performance, meat oxidative stability and fatty acid profile of broiler chickens. One hundred and twenty one-day-old broiler chickens of mixed sex were weighed individually and assigned randomly to three treatment groups with four replications of 10 birds. All birds were housed in floor cages with litter, and conventional breeding and management procedures were applied throughout the 42-day trial period. The treatment groups were as follows: control: 0 g spirulina/kg feed; S05: 5 g spirulina/kg feed; S10: 10 g spirulina/kg feed. The birds were fed with maize and soybean meal-based commercial diets for the starter (1 to 14 days), grower (15 to 28 days) and finisher (29 to 42 days) periods. Feed and drinking water were offered to all birds ad libitum. The results of the experiment showed that bodyweight gain (at 21 d and 42 d), feed conversion ratio and mortality did not differ among the groups, nor did breast and thigh meat lipid oxidation differ among the groups. The fatty acid profile of the thigh meat was enriched in polyunsaturated fatty acids, especially eicosapentaenoic acid and docosahexaenoic acid after spirulina supplementation. Therefore, spirulina could be a promising functional ingredient in broiler chicken nutrition.Keywords: Poultry, microalgae, performance, meat oxidative stability, fatty acid profil
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