62 research outputs found
Xq27 FRAXA locus is a strong candidate for dyslexia: evidence from a genome-wide scan in French families.
Dyslexia is a frequent neurodevelopmental
learning disorder. To date, nine susceptibility loci have
been identified, one of them being DYX9, located in Xq27.
We performed the first French SNP linkage study followed
by candidate gene investigation in dyslexia by studying 12
multiplex families (58 subjects) with at least two children
affected, according to categorical restrictive criteria for
phenotype definition. Significant results emerged on
Xq27.3 within DYX9. The maximum multipoint LOD
score reached 3,884 between rs12558359 and rs454992.
Within this region, seven candidate genes were investigated
for mutations in exonic sequences (CXORF1,
CXORF51, SLITRK2, FMR1, FMR2, ASFMR1, FMR1NB),
all having a role during brain development. We further
looked for 50
UTR trinucleotide repeats in FMR1 and FMR2
genes. No mutation or polymorphism co-segregating with
dyslexia was found. This finding in French families with
Dyslexia showed significant linkage on Xq27.3 enclosing
FRAXA, and consequently confirmed the DYX9 region as
a robust susceptibility locus. We reduced the previously
described interval from 6.8 (DXS1227–DXS8091) to 4 Mb
also disclosing a higher LOD score
Survey radiography and computerized tomography imaging of the thorax in female dogs with mammary tumors
<p>Abstract</p> <p>Background</p> <p>Accurate early diagnosis of lung metastases is important for establishing therapeutic measures. Therefore, the present study aimed to compare survey thoracic radiographs and computerized tomography (CT) scans to specifically identify lung metastases in female dogs with mammary tumors.</p> <p>Methods</p> <p>Twenty-one female dogs, weighing 3 to 34 kg and aged from 5 years to 14 years and 10 months, with mammary tumors were studied. In all dogs before the imaging examinations, fine-needle aspiration cytology of the mammary tumors was performed to confirm the diagnosis. Three-view thoracic radiographs were accomplished: right lateral, left lateral and ventrodorsal views. Sequential transverse images of the thorax were acquired on a spiral Scanner, before and after intravenous bolus injection of nonionic iodine contrast. Soft-tissue and lung windows were applied. All the mammary tumors were surgically removed and examined histologically.</p> <p>Results</p> <p>The correlation between the cytological and histological results regarding presence of malignancy was observed in only 17 cases. In radiographic examinations, no dog displayed signs of lung metastases or thorax chest lesions. CT detected lung metastasis in two cases, while small areas of lung atelectasis located peripherally were found in 28.57% of the dogs.</p> <p>Conclusion</p> <p>In this study population, spiral CT showed higher sensitivity than chest radiographies to detect lung metastasis; this indicates that CT should be performed on all female dogs with malignant mammary tumors.</p
Investigating trophic ecology and dietary niche overlap among morphs of Lake Trout in Lake Superior
Four morphs of Lake Trout (Salvelinus namaycush, Walbaum 1792) have been identified in Lake Superior: leans, siscowets, humpers, and redfins. In this comprehensive study, the trophic ecology of Lake Trout morphs were characterized using stomach content, fatty acid, and stable isotope data. Stomach content results indicated a predominately piscivorous diet for leans, siscowets, and redfins, whereas humper diets were comprised of 50% fish and 50% Mysis by mass. Humper and siscowets were most similar in their dietary fatty acid profiles, whereas redfins had the most distinct dietary fatty acid profile. Results from stable isotope analysis revealed some among-morph differences along a pelagic-profundal consumption gradient (34S), but there were no significant differences in trophic position (15N) or basal carbon sources among morphs (13C). Using the recently developed nicheROVER software package, 4-dimensional trophic niches for each morph were quantified using stable isotope ratios (δ13C, δ15N, and δ34S) and fatty acid profiles (30 dietary fatty acids, condensed to one axis). Humpers had the largest 4-dimensional niche regions of all four morphs, and redfins had the smallest. Pairwise probability of overlap among morphs in these four-dimensional niche regions was determined to be < 50% in most cases. Overall, stomach content results indicate that humpers diets were more planktivorous than the other morphs, consistent with previous research. Results of the niche overlap analysis suggests some degree of generalist feeding for all morphs. Better characterization of seasonal variation in diet using tracers that reflect more recent feeding (e.g., fatty acids, stomach contents, and/or stable isotope analyses performed on tissues that turnover more quickly than muscle) are needed to further elucidate among-morph differences and similarities in diet and trophic ecology
Abhandlung über die Gichtkrankheiten
P. J. Barthez .... Aus dem Franz. frei übers., mit Anm. und einem Anh. vers. von C. H. E. BischoffAus dem Franz. übers.Erschienen: 1 -
Equine Third Metacarpal Bone Assessment by Quantitative Ultrasound and Dual-Energy-X-Ray absorptiometry
peer reviewe
- …