Improved He I Emissivities in the Case B Approximation

We update our prior work on the case B collisional-recombination spectrum of He I to incorporate \textit{ab initio} photoionisation cross-sections. This large set of accurate, self-consistent cross-sections represents a significant improvement in He I emissivity calculations because it largely obviates the piecemeal nature that has marked all modern works. A second, more recent set of \textit{ab initio} cross-sections is also available, but we show that those are less consistent with bound-bound transition probabilities than our adopted set. We compare our new effective recombination coefficients with our prior work and our new emissivities with those by other researchers, and we conclude with brief remarks on the effects of the present work on the He I error budget. Our calculations cover temperatures $5000 \le T_e \le 25000$ K and densities $10^1 \le n_e \le 10^{14}$ cm$^{-3}$. Full results are available online.Comment: Accepted to MNRAS Letters; 4 pages, 4 figures, 2 tables, 1 supplemental fil

Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection

Considerable differences exist amongst countries in the mutation probability methods and thresholds used to select patients for BRCA1/2 genetic screening. In order to assess the added value of mutation probability methods, we have retrospectively calculated the BRCAPRO and Myriad II probabilities in 306 probands who had previously been selected for DNA-analysis according to criteria based on familial history of cancer. DNA-analysis identified 52 mutations (16.9%) and 11 unclassified variants (UVs, 3.6%). Compared to cancer history, a threshold ≥10% with BRCAPRO or with Myriad II excluded about 40% of the patients from analysis, including four with a mutation and probabilities <10% with both programs. All four probands had a BRCA2 mutation. BRCAPRO and Myriad II showed similar specificity at 10% threshold, overall BRCAPRO was more sensitive than Myriad II for the detection of mutations. Only two of the probands with an UV had probabilities >20% with BRCAPRO and Myriad II. In summary, BRCAPRO and Myriad II are more efficient than cancer history alone to exclude patients without a mutation. BRCAPRO performs better for the detection of BRCA1 mutations than of BRCA2 mutations. The Myriad II scores provided no additional information than the BRCAPRO scores alone for the detection of patients with a mutation. The use of thresholds excluded from analysis the majority of patients carrying an UV

Des fonctions propres de l'operateur d'Orr-Sommerfeld et de son adjoint dans le cas du domaine semi-infini

Extrait de : Comptes rendus de l'Academie des Sciences Paris. Problemes mathematiques de la mecanique/Mathematical problems in mechanics, Tome 313, Serie 1, p. 817-822, 1991SIGLEAvailable at INIST (FR), Document Supply Service, under shelf-number : 22419, issue : a.1991 n.226 / INIST-CNRS - Institut de l'Information Scientifique et TechniqueFRFranc

MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome

Kabuki Syndrome (KS) is a rare syndrome characterized by intellectual disability and multiple congenital abnormalities, in particular a distinct dysmorphic facial appearance. KS is caused by mutations in the MLL2 gene, encoding an H3K4 histone methyl transferase which acts as an epigenetic transcriptional activator during growth and development. Direct sequencing of all 54 exons of the MLL2 gene in 45 clinically well-defined KS patients identified 34 (75.6%) different mutations. One mutation has been described previously, all others are novel. Clinically, all KS patients were sporadic, and mutations were de novo for all 27 families for which both parents were available. We detected nonsense (n=11), frameshift (n=17), splice site (n=4) and missense (n=2) mutations, predicting a high frequency of absent or non-functional MLL2 protein. Interestingly, both missense mutations located in the C-terminal conserved functional domains of the protein. Phenotypically our study indicated a statistically significant difference in the presence of a distinct facial appearance (p=0.0143) and growth retardation (p=0.0040) when comparing KS patients with an MLL2 mutation compared to patients without a mutation. Our data double the number of MLL2 mutations in KS reported so far and widen the spectrum of MLL2 mutations and disease mechanisms in KS. (C) 2010 Wiley-Liss, Inc

MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome

Genetics of disease, diagnosis and treatmen