34 research outputs found
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 Aluâmediated 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 sistersâ 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 mealâbasal 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 broilersâ 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 Canadaâs 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 birdsâ 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