To evaluate and compare the performance of the recently released Aneufast™ v2 (MolgentixSL) and QST*RplusV2 commercial assays (Gen-Probe), both designed for the quantitative fluorescent-polymerase ...chain reaction (PCR) detection of the common aneuploidies during pregnancy.
A series of 160 consecutive fetal samples referred for rapid aneuploidy detection testing and an additional 25 samples enriched for the presence of an abnormality were selected for comparison.
To confidently rule out a chromosome abnormality, a second round of short tandem repeat typing was required for 14.1% (26) and 9.7% (18) of the specimens analyzed with Aneufast v2 and QST*RplusV2, respectively. Reflex testing was required for 7.6% (14) and 5.9% (11) of the specimens analyzed with respective assays to confidently rule out an autosomal trisomy. For the sex chromosomes, the difference in the amount of follow-up testing is greater between the assays, as a result of the inclusion in the initial PCR of the TAF9L paralogous marker in the QST*RplusV2 assay.
Overall, both assays performed similarly in the detection of aneuploidies. In this sample set, the QST*RplusV2 kit required less frequent reflex testing, which translates into shorter turnaround time and cost savings. The incorporation of the TAF9L paralogous sequence in the initial PCR is advantageous for diagnostic use.
To determine the cost effectiveness of vaccinating against Lyme disease, we used a decision tree to examine the impact on society of six key components. The main measure of outcome was the cost per ...case averted. Assuming a 0.80 probability of diagnosing and treating early Lyme disease, a 0.005 probability of contracting Lyme disease, and a vaccination cost of $50 per year, the mean cost of vaccination per case averted was $4,466. When we increased the probability of contracting Lyme disease to 0.03 and the cost of vaccination to $100 per year, the mean net savings per case averted was $3,377. Since few communities have average annual incidences of Lyme disease >0. 005, economic benefits will be greatest when vaccination is used on the basis of individual risk, specifically, in persons whose probability of contracting Lyme disease is >0.01.
This paper synthesizes the trophic dynamics of a Canadian arctic marine ecosystem in so far as it is known, using new data on primary production, zooplankton, the bivalve Mya truncata, and arctic cod ...(Boreogadus saida), as well as literature values for marine mammals and seabirds. The 98 000 km² region has a high rate of primary production relative to other parts of arctic Canada. About 60 g C.m⁻² are fixed annually, of which approximately 90% is contributed by phytoplankton, 10% by ice algae, and 1% by kelp. Phytoplankton production is twofold higher along the south coast of Cornwallis Island than elsewhere in Barrow Strait. Four copepod species, of which Pseudocalanus acuspes is the most important energetically, graze about one-third of the phytoplankton production. Bivalves maintain high biomass but low energy flow, acting as sedimenting agents. Arctic cod is a major component, with 125 000 tonnes being consumed by marine mammals and 23 000 tonnes by seabirds annually. Our hydroacoustic estimate for mean arctic cod density, 0.0022 fish.m⁻², is probably too low, partly because we have been unable to quantify dense aggregations of schooling fish. The ecological efficiency of ringed seal is near maximum, with 5% of ringed seal ingestion going to bears and man as seal flesh. The data on total kill and prey consumption in whales and birds is incomplete because they migrate out of the Lancaster Sound region in winter. The food chain is very long, with bears occupying the fifth trophic level; this is reflected by high biomagnification factors for persistent lipophilic pollutants such as PCBs. There are major data gaps for some zooplankton and most of the benthos, as well as for winter populations and energetics. This trophic analysis is therefore incomplete and efficiencies for entire trophic levels cannot be calculated. /// Cet article résume la dynamique trophique de l'écosystème marin dans le Canada arctique dans la mesure où il est connu, en utilisant de nouvelles données sur la production primaire, le zooplancton, le bivalve Mya truncata, et la morue polaire (Boreogadus saida), ainsi que les valeurs trouvées dans la documentation sur les mammifères et les oiseaux marins. Cette région d'une superficie de 98 000 km² possède un taux élevé de production primaire par rapport à d'autres parties du Canada arctique. Environ 60 g C·m⁻² sont fixés annuellement, dont environ 90 p. cent par le phytoplancton, 10 p. cent par les algues glaciaires et 1 p. cent par les laminaires. La production de phytoplancton est deux fois plus élevée le long de la côte méridionale de l'île Cornwallis qu'ailleurs dans le détroit de Barrow. Quatre espèces de copépodes, dont la Pseudocalanus acuspes est la plus importante du point de vue énergétique, utilisent environ un tiers de la production de phytoplancton pour se nourrir. Les bivalves contribuent de façon importante à la biomasse mais peu au flux énergétique, étant des agents de sédimentation. La morue arctique est une composante importante, étant consommée au taux annuel de 125 000 tonnes par les mammifères marins et de 23 000 tonnes par les oiseaux marins. Notre estimation hydroacoustique pour la densité moyenne de la morue arctique, 0,0022 poissons.m⁻², est probablement trop faible, en partie parce que nous avons été incapables de quantifier les regroupements denses des poissons se rassemblant en bancs. L'efficacité écologique du phoque annelé est proche de son maximum, 5 p. cent de l'ingestion de cet animal allant à l'ours et à l'homme sous forme de chair de phoque. Les données sur le nombre d'animaux tués et sur la consommation de proies chez les baleines et les oiseaux sont incomplètes en raison de leur migration hivernale à l'extérieur du détroit de Lancaster. La chaîne alimentaire est très longue, les ours occupant le cinquième niveau trophique; cela se traduit par des facteurs de bioamplification élevés en ce qui concerne les polluants lipophiles persistants tels que les BPC. Il existe des lacunes dans les données pour certains éléments du zooplancton et pour la plupart du benthos, ainsi que pour les populations et l'énergétique hivernales. Cette analyse trophique est donc incomplète et il n'est pas possible de calculer l'efficacité pour l'ensemble des niveaux trophiques.
We present Wisconsin H-Alpha Mapper SII λ6716 and Hα spectroscopic maps of the warm ionized medium (WIM) in the Scutum-Centaurus Arm at Galactic longitudes 310° < l < 345°. Using extinction-corrected ...Hα intensities (I{sub Hα}{sup c}), we measure an exponential scale height of electron density squared in the arm of H{sub n{sub e{sup 2}}}=0.30 kpc (assuming a distance of 3.5 kpc), intermediate between that observed in the inner Galaxy and in the Perseus Arm. The S II/Hα line ratio is enhanced at large |z| and in sightlines with faint I{sub Hα}{sup c}. We find that the S II/Hα line ratio has a power-law relationship with I{sub Hα}{sup c} from a value of ≈1.0 at I{sub Hα}{sup c}<0.2 R (Rayleighs) to a value of ≈0.08 at I{sub Hα}{sup c}≳100 R. The line ratio is better correlated with Hα intensity than with height above the plane, indicating that the physical conditions within the WIM vary systematically with electron density. We argue that the variation of the line ratio with height is a consequence of the decrease of electron density with height. Our results reinforce the well-established picture in which the diffuse Hα emission is due primarily to emission from in situ photoionized gas, with scattered light only a minor contributor.
A new unstable α-globin variant was detected in a child with hypoxemia and anemia. The child's mother was found to carry the same mutation. The hemoglobin (Hb) variant co-eluted with Hb A2 by cation ...exchange high performance liquid chromatography (HPLC) and appeared cathodal to Hb A and anodal to Hb F by isoelectric focusing. It represented less than 20% of the total Hb and was unstable by isopropanol testing. Gene sequencing identified a missense mutation on the α2 gene HBA2:c.140T>C. Oxygen dissociation and P50 test results were normal.
To determine whether common variants in familial cerebral small vessel disease (SVD) genes confer risk of sporadic cerebral SVD.
We meta-analyzed genotype data from individuals of European ancestry ...to determine associations of common single nucleotide polymorphisms (SNPs) in 6 familial cerebral SVD genes (
,
,
,
,
, and
) with intracerebral hemorrhage (ICH) (deep, lobar, all; 1,878 cases, 2,830 controls) and ischemic stroke (IS) (lacunar, cardioembolic, large vessel disease, all; 19,569 cases, 37,853 controls). We applied data quality filters and set statistical significance thresholds accounting for linkage disequilibrium and multiple testing.
A locus in
was associated (significance threshold
< 3.5 × 10
) with both lacunar IS (lead SNP rs9515201: odds ratio OR 1.17, 95% confidence interval CI 1.11-1.24,
= 6.62 × 10
) and deep ICH (lead SNP rs4771674: OR 1.28, 95% CI 1.13-1.44,
= 5.76 × 10
). A SNP in
was associated (significance threshold
< 5.5 × 10
) with lacunar IS (rs79043147: OR 1.23, 95% CI 1.10-1.37,
= 1.90 × 10
) and less robustly with deep ICH. There was no clear evidence for association of common variants in either
or
with non-SVD strokes or in any of the other genes with any stroke phenotype.
These results provide evidence of shared genetic determinants and suggest common pathophysiologic mechanisms of distinct ischemic and hemorrhagic cerebral SVD stroke phenotypes, offering new insights into the causal mechanisms of cerebral SVD.