Familial Mediterranean Fever and Hyperimmunoglobulinemia D syndrome: two diseases with distinct clinical, serologic, and genetic features

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Abundance of Delta Resonances in 58Ni+58Ni Collisions between 1 and 2 AGeV

Charged pion spectra measured in 58Ni-58Ni collisions at 1.06, 1.45 and 1.93 AGeV are interpreted in terms of a thermal model including the decay of Delta resonances. The transverse momentum spectra of pions are well reproduced by adding the pions originating from the Delta-resonance decay to the component of thermal pions, deduced from the high transverse momentum part of the pion spectra. About 10 and 18% of the nucleons are excited to Delta states at freeze-out for beam energies of 1 and 2 AGeV, respectively.Comment: 14 pages, LaTeX with 3 included figures; submitted to Physics Letters

Chaste: an open source C++ library for computational physiology and biology

Chaste - Cancer, Heart And Soft Tissue Environment - is an open source C++ library for the computational simulation of mathematical models developed for physiology and biology. Code development has been driven by two initial applications: cardiac electrophysiology and cancer development. A large number of cardiac electrophysiology studies have been enabled and performed, including high performance computational investigations of defibrillation on realistic human cardiac geometries. New models for the initiation and growth of tumours have been developed. In particular, cell-based simulations have provided novel insight into the role of stem cells in the colorectal crypt. Chaste is constantly evolving and is now being applied to a far wider range of problems. The code provides modules for handling common scientific computing components, such as meshes and solvers for ordinary and partial differential equations (ODEs/PDEs). Re-use of these components avoids the need for researchers to "re-invent the wheel" with each new project, accelerating the rate of progress in new applications. Chaste is developed using industrially-derived techniques, in particular test-driven development, to ensure code quality, re-use and reliability. In this article we provide examples that illustrate the types of problems Chaste can be used to solve, which can be run on a desktop computer. We highlight some scientific studies that have used or are using Chaste, and the insights they have provided. The source code, both for specific releases and the development version, is available to download under an open source Berkeley Software Distribution (BSD) licence at http://www.cs.ox.ac.uk/chaste, together with details of a mailing list and links to documentation and tutorials

K^+ production in the reaction 58Ni+58Ni^{58}Ni+^{58}Ni at incident energies from 1 to 2 AGeV

Semi-inclusive triple differential multiplicity distributions of positively charged kaons have been measured over a wide range in rapidity and transverse mass for central collisions of $^{58}$Ni with $^{58}$Ni nuclei. The transverse mass ($m_t$) spectra have been studied as a function of rapidity at a beam energy 1.93 AGeV. The $m_t$ distributions of K^+ mesons are well described by a single Boltzmann-type function. The spectral slopes are similar to that of the protons indicating that rescattering plays a significant role in the propagation of the kaon. Multiplicity densities have been obtained as a function of rapidity by extrapolating the Boltzmann-type fits to the measured distributions over the remaining phase space. The total K^+ meson yield has been determined at beam energies of 1.06, 1.45, and 1.93 AGeV, and is presented in comparison to existing data. The low total yield indicates that the K^+ meson can not be explained within a hadro-chemical equilibrium scenario, therefore indicating that the yield does remain sensitive to effects related to its production processes such as the equation of state of nuclear matter and/or modifications to the K^+ dispersion relation.Comment: 24 pages Latex (elsart) 7 PS figures to be submitted to Nucl. Phys

Spallation Neutron Production by 0.8, 1.2 and 1.6 GeV Protons on various Targets

Spallation neutron production in proton induced reactions on Al, Fe, Zr, W, Pb and Th targets at 1.2 GeV and on Fe and Pb at 0.8, and 1.6 GeV measured at the SATURNE accelerator in Saclay is reported. The experimental double-differential cross-sections are compared with calculations performed with different intra-nuclear cascade models implemented in high energy transport codes. The broad angular coverage also allowed the determination of average neutron multiplicities above 2 MeV. Deficiencies in some of the models commonly used for applications are pointed out.Comment: 20 pages, 32 figures, revised version, accepted fpr publication in Phys. Rev.

Identification of baryon resonances in central heavy-ion collisions at energies between 1 and 2 AGeV

The mass distributions of baryon resonances populated in near-central collisions of Au on Au and Ni on Ni are deduced by defolding the $p_t$ spectra of charged pions by a method which does not depend on a specific resonance shape. In addition the mass distributions of resonances are obtained from the invariant masses of $(p, \pi^{\pm})$ pairs. With both methods the deduced mass distributions are shifted by an average value of -60 MeV/c$^2$ relative to the mass distribution of the free $\Delta(1232)$ resonance, the distributions descent almost exponentially towards mass values of 2000 MeV/c^2. The observed differences between $(p, \pi^-)$ and $(p, \pi^+)$ pairs indicate a contribution of isospin $I = 1/2$ resonances. The attempt to consistently describe the deduced mass distributions and the reconstructed kinetic energy spectra of the resonances leads to new insights about the freeze out conditions, i.e. to rather low temperatures and large expansion velocities.Comment: 30 pages, 13 figures, Latex using documentstyle[12pt,a4,epsfig], to appear in Eur. Phys. J.

Stopping and Radial Flow in Central 58Ni + 58Ni Collisions between 1 and 2 AGeV

The production of charged pions, protons and deuterons has been studied in central collisions of 58Ni on 58Ni at incident beam energies of 1.06, 1.45 and 1.93 AGeV. The dependence of transverse-momentum and rapidity spectra on the beam energy and on the centrality of the collison is presented. It is shown that the scaling of the mean rapidity shift of protons established for AGS and SPS energies is valid down to 1 AGeV. The degree of nuclear stopping is discussed; the IQMD transport model reproduces the measured proton rapidity spectra for the most central events reasonably well, but does not show any sensitivity between the soft and the hard equation of state (EoS). A radial flow analysis, using the midrapidity transverse-momentum spectra, delivers freeze-out temperatures T and radial flow velocities beta_r which increase with beam energy up to 2 AGeV; in comparison to existing data of Au on Au over a large range of energies only beta_r shows a system size dependence

A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

<p>Abstract</p> <p>Background</p> <p>Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have been mapped including a locus on chromosome 16q22 containing the disease-causing gene <it>HSF4 </it>(Genbank accession number <ext-link ext-link-id="NM_001040667" ext-link-type="gen">NM_001040667</ext-link>). Here, we describe a family from Pakistan with the first nonsense mutation in <it>HSF4 </it>thus expanding the mutational spectrum of this heat shock transcription factor gene.</p> <p>Methods</p> <p>A large consanguineous Pakistani family with autosomal recessive cataracts was collected from Quetta. Genetic linkage analysis was performed for the common known autosomal recessive cataracts loci and linkage to a locus containing <it>HSF4 </it>(OMIM 602438) was found. All exons and adjacent splice sites of the heat shock transcription factor 4 gene (<it>HSF4</it>) were sequenced. A mutation-specific restriction enzyme digest (H<it>ph</it>I) was performed for all family members and unrelated controls.</p> <p>Results</p> <p>The disease phenotype perfectly co-segregated with markers flanking the known cataract gene HSF4, whereas other autosomal recessive loci were excluded. A maximum two-point LOD score with a Zmax = 5.6 at θ = 0 was obtained for D16S421. Direct sequencing of HSF4 revealed the nucleotide exchange c.1213C > T in this family predicting an arginine to stop codon exchange (p.R405X).</p> <p>Conclusion</p> <p>We identified the first nonsense mutation (p.R405X) in exon 11 of <it>HSF4 </it>in a large consanguineous Pakistani family with autosomal recessive cataract.</p