Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects

BACKGROUND: Familial Hypercholesterolemia is a common autosomal dominantly inherited disease that is most frequently caused by mutations in the gene encoding the receptor for low density lipoproteins (LDLR). Deletions and other major structural rearrangements of the LDLR gene account for approximately 5% of the mutations in many populations. METHODS: Five genomic deletions in the LDLR gene were characterized by amplification of mutated alleles and sequencing to identify genomic breakpoints. A diagnostic assay based on duplex PCR for the exon 7 – 8 deletion was developed to discriminate between heterozygotes and normals, and bioinformatic analyses were used to identify interspersed repeats flanking the deletions. RESULTS: In one case 15 bp had been inserted at the site of the deleted DNA, and, in all five cases, Alu elements flanked the sites where deletions had occurred. An assay developed to discriminate the wildtype and the deletion allele in a simple duplex PCR detected three FH patients as heterozygotes, and two individuals with normal lipid values were detected as normal homozygotes. CONCLUSION: The identification of the breakpoints should make it possible to develop specific tests for these mutations, and the data provide further evidence for the role of Alu repeats in intragenic deletions

Detection of large deletions in the LDL receptor gene with quantitative PCR methods

BACKGROUND: Familial Hypercholesterolemia (FH) is a common genetic disease and at the molecular level most often due to mutations in the LDL receptor gene. In genetically heterogeneous populations, major structural rearrangements account for about 5% of patients with LDL receptor gene mutations. METHODS: In this study we tested the ability of two different quantitative PCR methods, i.e. Real-Time PCR and Multiplex Ligation-Dependent Probe Amplification (MLPA), to detect deletions in the LDL receptor gene. We also reassessed the contribution of major structural rearrangements to the mutational spectrum of the LDL receptor gene in Denmark. RESULTS: With both methods it was possible to discriminate between one and two copies of the LDL receptor gene exon 5, but the MLPA method was cheaper, and it was far more accurate and precise than Real-Time PCR. In five of 318 patients with an FH phenotype, MLPA analysis revealed five different deletions in the LDL receptor gene. CONCLUSION: The MLPA method was accurate, precise and at the same time effective in screening a large number of FH patients for large deletions in the LDL receptor gene

Automatic evaluation of body-related words among young women: an experimental study

Background: Sociocultural models of body image disturbance have linked the development of body dissatisfaction and eating disorders to exposure to media messages depicting the unrealistically slender female physique. Previous research has demonstrated that exposure to images depicting the thin female ideal has negative effects on some females’ levels of body dissatisfaction. Much of this research, however, has utilised relatively long stimulus exposure times; thereby focusing on effortful and conscious processing of body-related stimuli. Relatively little is known about the nature of females’ affective responses to the textual components of body-related stimuli, especially when these stimuli are only briefly encountered. The primary aim of the current research was to determine whether young women automatically evaluate body-related words and whether these responses are associated with body image concerns, including self-reported levels of appearance schematicity, thin internalisation, body dissatisfaction, and dietary restraint. Methods: An affective priming task was used to investigate whether females automatically evaluate body-related words, and whether this is associated with self-reported body image concerns. In a within-participants experimental design, the valence congruence of the prime and target pairs was manipulated. Participants selected body words as primes in Experiment 1 (N = 27), while normatively selected body words were primes in Experiment 2 (N = 50). Each prime was presented briefly, followed by a target word which participants judged as “good” or “bad”. The dependent variable was response latency to the target. Results: Automatic evaluation was evident: responding to congruent pairs was faster than responding to incongruent pairs. Body image concerns were unrelated to automaticity. Conclusions: The findings suggest that brief encounters with body words are likely to prompt automatic evaluation in all young women, and that this process proceeds unintentionally and efficiently, without conscious guidance. The potential implications for higher order, conscious information processing is discussed

A922 Sequential measurement of 1 hour creatinine clearance (1-CRCL) in critically ill patients at risk of acute kidney injury (AKI)

Meeting abstrac

Measurement of b hadron lifetimes in exclusive decays containing a J/psi in p-pbar collisions at sqrt(s)=1.96TeV

We report on a measurement of $b$-hadron lifetimes in the fully reconstructed decay modes B^+ -->J/Psi K+, B^0 --> J/Psi K*, B^0 --> J/Psi Ks, and Lambda_b --> J/Psi Lambda using data corresponding to an integrated luminosity of 4.3 ${\rm fb}^{-1}$, collected by the CDF II detector at the Fermilab Tevatron. The measured lifetimes are $\tau$B^+ = $1.639 \pm 0.009 ({\rm stat}) \pm 0.009 {\rm (syst) ~ ps}$, $\tau$B^0 = $1.507 \pm 0.010 ({\rm stat}) \pm 0.008 {\rm (syst) ~ ps}$ and $\tau$Lambda_b = $1.537 \pm 0.045 ({\rm stat}) \pm 0.014 {\rm (syst) ~ ps}$. The lifetime ratios are $\tau$B^+/$\tau$B^0 = $1.088 \pm 0.009 ({\rm stat})\pm 0.004 ({\rm syst})$ and $\tau$Lambda_b/$\tau$B^0 = $1.020 \pm 0.030 ({\rm stat})\pm 0.008 ({\rm syst})$. These are the most precise determinations of these quantities from a single experiment.Comment: revised version. accepted for PRL publicatio

Search for High Mass Resonances Decaying to Muon Pairs in root s=1.96 TeV p(p)over-bar Collisions

We present a search for a new narrow, spin-1, high mass resonance decaying to mu(+)mu(-) + X, using a matrix-element-based likelihood and a simultaneous measurement of the resonance mass and production rate. In data with 4.6 fb(-1) of integrated luminosity collected by the CDF detector in p (p) over bar collisions at root s = 1960 GeV, the most likely signal cross section is consistent with zero at 16% confidence level. We therefore do not observe evidence for a high mass resonance and place limits on models predicting spin-1 resonances, including M > 1071 GeV/c(2) at 95% confidence level for a Z' boson with the same couplings to fermions as the Z boson

Measurement of b Hadron Lifetimes in Exclusive Decays Containing a J/Psi in p(p)over-bar Collisions at root s=1.96 TeV

We report on a measurement of b-hadron lifetimes in the fully reconstructed decay modes B+-> J/psi K+, B-0 -> J/psi K*(892)(0), B-0 -> J/psi K-s(0), and Lambda(0)(b)-> J/psi Lambda(0) using data corresponding to an integrated luminosity of 4.3 fb(-1), collected by the CDF II detector at the Fermilab Tevatron. The measured lifetimes are tau(B+)=[1.639 +/- 0.009(stat)+/- 0.009(syst)]ps, tau(B-0)=[1.507 +/- 0.010(stat)+/- 0.008(syst)]ps, and tau(Lambda(0)(b))=[1.537 +/- 0.045(stat)+/- 0.014(syst)]ps. The lifetime ratios are tau(B+)/tau(B-0)=[1.088 +/- 0.009(stat)+/- 0.004(syst)] and tau(Lambda(0)(b))/tau(B-0)=[1.020 +/- 0.030(stat)+/- 0.008(syst)]. These are the most precise determinations of these quantities from a single experiment