Primary ciliary dyskinesia: Keep it on your radar

Primary ciliary dyskinesia (PCD) is a rare disorder of mucociliary clearance resulting in chronic oto-sinopulmonary disease. While the prevalence worldwide is estimated to be 1:10 000–1:15 000, it may be much higher in certain communities, especially where consanguinity is more prevalent. In the British South Asian community, for example, the prevalence has bren estimated at 1:2450, similar to that of cystic fibrosis among caucasians

On an efficient k-step iterative method for nonlinear equations

[EN] This paper is devoted to the construction and analysis of an efficient k-step iterative method for nonlinear equations. The main advantage of this method is that it does not need to evaluate any high order Frechet derivative. Moreover, all the k-step have the same matrix, in particular only one LU decomposition is required in each iteration. We study the convergence order, the efficiency and the dynamics in order to motivate the proposed family. We prove, using some recurrence relations, a semilocal convergence result in Banach spaces. Finally, a numerical application related to nonlinear conservative systems is presented. (C) 2016 Elsevier B.V. All rights reserved.This work was supported in part by the project MTM2011-28636-C02-01-{01,02} of the Spanish Ministry of Science and Innovation.Amat, S.; Bermúdez, C.; Hernández-Verón, MA.; Martínez Molada, E. (2016). On an efficient k-step iterative method for nonlinear equations. Journal of Computational and Applied Mathematics. 302:258-271. https://doi.org/10.1016/j.cam.2016.02.003S25827130

Semilocal convergence by using recurrence relations for fifth-order method in Banach spaces

In this paper, a semilocal convergence result in Banach spaces of an efficient fifth-order method is analyzed. Recurrence relations are used in order to prove this convergence, and some a priori error bounds are found. This scheme is finally used to estimate the solution of an integral equation and so, the theoretical results are numerically checked. We use this example to show the better efficiency of the current method compared with other existing ones, including Newton's scheme.This research was supported by Ministerio de Ciencia y Tecnologia MTM2011-28636-C02-{01,02}.Cordero Barbero, A.; Hernandez-Veron, MA.; Romero, N.; Torregrosa Sánchez, JR. (2015). Semilocal convergence by using recurrence relations for fifth-order method in Banach spaces. Journal of Computational and Applied Mathematics. 273:205-213. https://doi.org/10.1016/j.cam.2014.06.008S20521327

Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia

Cilia play essential roles in normal human development and health; cilia dysfunction results in diseases such as primary ciliary dyskinesia (PCD). Despite their importance, the native structure of human cilia is unknown, and structural defects in the cilia of patients are often undetectable or remain elusive because of heterogeneity. Here we develop an approach that enables visualization of human (patient) cilia at high-resolution using cryo-electron tomography of samples obtained noninvasively by nasal scrape biopsy. We present the native 3D structures of normal and PCD-causing RSPH1-mutant human respiratory cilia in unprecedented detail; this allows comparisons of cilia structure across evolutionarily distant species and reveals the previously unknown primary defect and the heterogeneous secondary defects in RSPH1-mutant cilia. Our data provide evidence for structural and functional heterogeneity in radial spokes, suggest a mechanism for the milder RSPH1 PCD phenotype and demonstrate that cryo-electron tomography can be applied to human disease by directly imaging patient samples

Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a rare disorder that affects the biogenesis or function of motile cilia resulting in chronic airway disease. PCD is genetically and phenotypically heterogeneous, with causative mutations identified in over 40 genes; however, the genetic basis of many cases is unknown. Using whole-exome sequencing, we identified three affected siblings with clinical symptoms of PCD but normal ciliary structure, carrying compound heterozygous loss-of-function variants in CFAP221. Computational analysis suggests that these variants are the most damaging alleles shared by all three siblings. Nasal epithelial cells from one of the subjects demonstrated slightly reduced beat frequency (16.5 Hz vs 17.7 Hz, p = 0.16); however, waveform analysis revealed that the CFAP221 defective cilia beat in an aberrant circular pattern. These results show that genetic variants in CFAP221 cause PCD and that CFAP221 should be considered a candidate gene in cases where PCD is suspected but cilia structure and beat frequency appear normal

UHECR as Decay Products of Heavy Relics? The Lifetime Problem

The essential features underlying the top-down scenarii for UHECR are discussed, namely, the stability (or lifetime) imposed to the heavy objects (particles) whatever they be: topological and non-topological solitons, X-particles, cosmic defects, microscopic black-holes, fundamental strings. We provide an unified formula for the quantum decay rate of all these objects as well as the particle decays in the standard model. The key point in the top-down scenarii is the necessity to adjust the lifetime of the heavy object to the age of the universe. This ad-hoc requirement needs a very high dimensional operator to govern its decay and/or an extremely small coupling constant. The natural lifetimes of such heavy objects are, however, microscopic times associated to the GUT energy scale (sim 10^{-28} sec. or shorter). It is at this energy scale (by the end of inflation) where they could have been abundantly formed in the early universe and it seems natural that they decayed shortly after being formed.Comment: 11 pages, LaTex, no figures, updated versio

Single Spin Asymmetry ANA_N in Polarized Proton-Proton Elastic Scattering at s=200\sqrt{s}=200 GeV

We report a high precision measurement of the transverse single spin asymmetry $A_N$ at the center of mass energy $\sqrt{s}=200$ GeV in elastic proton-proton scattering by the STAR experiment at RHIC. The $A_N$ was measured in the four-momentum transfer squared $t$ range $0.003 \leqslant |t| \leqslant 0.035$ \GeVcSq, the region of a significant interference between the electromagnetic and hadronic scattering amplitudes. The measured values of $A_N$ and its $t$-dependence are consistent with a vanishing hadronic spin-flip amplitude, thus providing strong constraints on the ratio of the single spin-flip to the non-flip amplitudes. Since the hadronic amplitude is dominated by the Pomeron amplitude at this $\sqrt{s}$, we conclude that this measurement addresses the question about the presence of a hadronic spin flip due to the Pomeron exchange in polarized proton-proton elastic scattering.Comment: 12 pages, 6 figure

Centrality dependence of charged particle production at large transverse momentum in Pb-Pb collisions at sNN=2.76\sqrt{s_{\rm{NN}}} = 2.76 TeV

The inclusive transverse momentum ($p_{\rm T}$) distributions of primary charged particles are measured in the pseudo-rapidity range $|\eta|<0.8$ as a function of event centrality in Pb-Pb collisions at $\sqrt{s_{\rm{NN}}}=2.76$ TeV with ALICE at the LHC. The data are presented in the $p_{\rm T}$ range $0.15<p_{\rm T}<50$ GeV/$c$ for nine centrality intervals from 70-80% to 0-5%. The Pb-Pb spectra are presented in terms of the nuclear modification factor $R_{\rm{AA}}$ using a pp reference spectrum measured at the same collision energy. We observe that the suppression of high-$p_{\rm T}$ particles strongly depends on event centrality. In central collisions (0-5%) the yield is most suppressed with $R_{\rm{AA}}\approx0.13$ at $p_{\rm T}=6$-7 GeV/$c$. Above $p_{\rm T}=7$ GeV/$c$, there is a significant rise in the nuclear modification factor, which reaches $R_{\rm{AA}} \approx0.4$ for $p_{\rm T}>30$ GeV/$c$. In peripheral collisions (70-80%), the suppression is weaker with $R_{\rm{AA}} \approx 0.7$ almost independently of $p_{\rm T}$. The measured nuclear modification factors are compared to other measurements and model calculations.Comment: 17 pages, 4 captioned figures, 2 tables, authors from page 12, published version, figures at http://aliceinfo.cern.ch/ArtSubmission/node/284

Measurement of charm production at central rapidity in proton-proton collisions at s=2.76\sqrt{s} = 2.76 TeV

The $p_{\rm T}$-differential production cross sections of the prompt (B feed-down subtracted) charmed mesons D$^0$, D$^+$, and D$^{*+}$ in the rapidity range $|y|<0.5$, and for transverse momentum $1< p_{\rm T} <12$ GeV/$c$, were measured in proton-proton collisions at $\sqrt{s} = 2.76$ TeV with the ALICE detector at the Large Hadron Collider. The analysis exploited the hadronic decays D$^0 \rightarrow$K$\pi$, D$^+ \rightarrow$K$\pi\pi$, D$^{*+} \rightarrow$D$^0\pi$, and their charge conjugates, and was performed on a $L_{\rm int} = 1.1$ nb$^{-1}$ event sample collected in 2011 with a minimum-bias trigger. The total charm production cross section at $\sqrt{s} = 2.76$ TeV and at 7 TeV was evaluated by extrapolating to the full phase space the $p_{\rm T}$-differential production cross sections at $\sqrt{s} = 2.76$ TeV and our previous measurements at $\sqrt{s} = 7$ TeV. The results were compared to existing measurements and to perturbative-QCD calculations. The fraction of cdbar D mesons produced in a vector state was also determined.Comment: 20 pages, 5 captioned figures, 4 tables, authors from page 15, published version, figures at http://aliceinfo.cern.ch/ArtSubmission/node/307