Familial pseudoxanthoma elasticum with nephrocalcinosis: a case report

Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic disorder characterized by progressive calcification and fragmentation of elastic fibres. PXE commonly involves the reticular dermis, the Bruch membrane of the eye, and blood vessels. PXE is caused by mutations in the ABCC6 gene. More than 300 pathogenic ABCC6 mutations are known. Two of these mutations are common: p.R1141X in exon 24, with a prevalence of 30%, and the Alu–mediated deletion of exons 23 to 29 (EX23_29del; p.A999_S1403del) found in 10-20% of patients. Homozygosity is rare. A 40-year-old female with a previous diagnosis of PXE was admitted in Nephrology Outpatient Clinic for nephrocalcinosis. She has two sisters, one of which also has a diagnosis of PXE and nephrocalcinosis. Physical examination revealed the presence of typical skin and ocular abnormalities. Microscopic and gross hematuria was reported in both affected sisters. Abdominal ultrasound confirmed bilateral cortico-medullar nephrocalcinosis. Calcium and phosphorus levels in blood and urine were normal. Hyperparathyroidism, renal tubular acidosis, hypervitaminosis D and hyperoxaluria were excluded. Renal biopsy showed only minor glomerular abnormalities. Medullary sponge kidney was identified by excretory urography. Genomic DNA was used as a template for PCR amplification of the region spanning introns 22 to 29 of ABCC6 [Pfendner et al., J Med Genet 2007;44:621-8]. The oligonucleotide cocktail used generated a 552bp PCR product for the normal sequence, and a 652bp product for the deletion mutation. Both sisters with PXE were homozygous for the EX23_29del mutation. The third sister did not carry this deletion. There are occasional reports of diffuse visceral calcifications (testis, mammary gland) in PXE. PXE-associated nephrocalcinosis was previously noted in four patients belonging to different families. This is the first report of familiar co-occurrence of PXE and nephrocalcinosis with medullary sponge kidney. These sisters’ peculiar phenotype could be due to their unusual genotype, or other shared genetic and environmental factors

Influence of dietary Chlorella vulgaris and carbohydrate-active enzymes on growth performance, meat quality and lipid composition of broiler chickens

Article in pressHerein, we investigated the effect of Chlorella vulgaris as ingredient (10% of incorporation) in broiler diets, supplemented or not with 2 formulations of Carbohydrate-Active enZymes (CAZymes; Rovabio Excel AP and a mixture of recombinant CAZymes, composed by an exo-b-glucosaminidase, an alginate lyase, a peptidoglycan N-acetylmuramic acid deacetylase and a lysozyme), on growth performance, meat quality, fatty acid composition, oxidative stability, and sensory traits. One hundred twenty 1-day-old Ross 308 male birds were randomly assigned to one of the 4 experimental diets (n 5 30): corn-soybean meal–basal diet (control), basal diet with 10% C. vulgaris (CV), CV supplemented with 0.005% of a commercialCAZymecocktail (Rovabio Excel AP), (CV1R), and CV supplemented with 0.01% of a 4- CAZyme mixture previously selected (CV 1 M) during the experimental period lasted from day 21 to day 35. Body weight gain and feed conversion rate of broilers were not affected by C. vulgaris but digesta viscosity increased more than 2-fold (P , 0.001) relative to the control. In addition, neither cooking loss, shear force, juiciness, flavor nor off-flavor was impaired by dietary treatments (P.0.05). By contrast, the dietary C. vulgaris increased tenderness, yellowness (b*) and total carotenoids in breast and thigh meats. However, no additional protective effect against lipid oxidation was observed in meat with the inclusion of microalga. Chlorella vulgaris, independently of CAZymes, had a minor impact on meat fatty acid composition but improved the proportion of some beneficial fatty acids. In summary, our data indicate a slight improvement of broiler meat quality and lipid nutritional value, without impairment of broilers’ growth performance, thus supporting the usefulness of this microalga in poultry diets, up to this high level of incorporation. By contrast, the selected CAZyme mixtures used do not significantly improve the release of microalga nutrients in poultry diets, through the disruption of microalga cell wall, which warrants further researchinfo:eu-repo/semantics/acceptedVersio

Structural and functional responses of benthic invertebrates to imidacloprid in outdoor stream mesocosms

Structural and functional responses of a benthic macroinvertebrate assemblage to pulses of the insecticide imidacloprid were assessed in outdoor stream mesocosms. Imidacloprid pulses reduced invertebrate abundance and community diversity in imidacloprid-dosed streams compared to control streams. These results correlated well with effects of imidacloprid on leaf litter decomposition and feeding rates of Pteronarcys comstocki, a stonefly, in artificial streams. Reductions in oxygen consumption of stoneflies exposed to imidacloprid were also observed in laboratory experiments. Our findings suggest that leaf litter degradation and single species responses can be sensitive ecotoxicological endpoints that can be used as early warning indicators and biomonitoring tools for pesticide contamination. The data generated illustrates the value of mesocosm experiments in environmental assessment and how the consideration of functional and structural endpoints of natural communities together with in situ single species bioassays can improve the evaluation and prediction of pesticide effects on stream ecosystems. (C) 2009 Elsevier Ltd. All rights reserved.Environment Canada’s Pesticide Science FundFC

Impact of dietary incorporation of Spirulina (Arthrospira platensis) and exogenous enzymes on broiler performance, carcass traits and meat quality

This study assessed the effect of Spirulina (Arthrospira platensis), individually and in combination with exogenous enzymes, on growth performance, carcass traits, and meat quality of broiler chickens. One hundred and twenty Ross 308 male chickens were allocated into 40 battery brooders, with 3 birds per cage, and fed ad libitum a corn-based diet during the first 21 D of the trial. The experimental period lasted from day 21 to 35, during which birds were fed 4 different diets: a corn-soybean basal diet, taken as the control group, a basal diet containing 15% Spirulina (MA), a basal diet containing 15% Spirulina plus 0.005% Rovabio Excel AP (MAR), and a basal diet containing 15% Spirulina plus 0.01% lysozyme (MAL). Body weight gain (P , 0.001) and feed conversion rate (P , 0.001) were improved in control chickens, when compared with those fed with Spirulina. In addition, Spirulina increased the length of duodenum plus jejunum in relation to the other treatment (P , 0.01). Chickens on the MAL diet showed a considerable increase in digesta viscosity (P , 0.05) compared with the control group. Breast and thigh meats from chickens fed with Spirulina, with or without the addition of exogenous enzymes, had higher values of yellowness (b*) (P , 0.001), total carotenoids (P , 0.001), and saturated fatty acids (P , 0.001), whereas n-3 polyunsaturated fatty acid (P , 0.01) and a-tocopherol (P , 0.001) decreased, when compared with the control. In conclusion, the incorporation of 15% Spirulina in broiler diets, individually or combined with exogenous enzymes, reduced birds’ performance through a higher digesta viscosity, which is likely associated with the gelation of microalga indigestible proteins. In addition, cell wall of Spirulina was successfully broken by the addition of lysozyme, but not by Rovabio Excel AP. Therefore, we anticipate that the combination of lysozyme with an exogenous specific peptidase could improve the digestibility of proteins from this microalga and avoid their detrimental gelationinfo:eu-repo/semantics/publishedVersio

Modeling the dilatancy of overconsolidated clay

The dilatancy of clay has long been considered as a function of the current stress state independent of the loading history. Experimental evidence, however, indicates the dilatancy behavior of over-consolidated (OC) clay bears close correlation with the overconsolidation ratio (OCR) of the soil. This paper presents a simple dilatancy relation for OC clays based on the modified Cam-clay (MCC) model. The dilatancy relation is integrated into a bounding surface model to predict the behavior of OC clays. With only three extra parameters added to the MCC model which can be easily calibrated by triaxial compression tests, the new model is shown to offer good predictions for the experimental data. © Springer-Verlag Berlin Heidelberg 2013