Summary Background Rare highly penetrant gain of function mutations in caspase recruitment domain family, member 14 (CARD14) can lead to psoriasis, a chronic inflammatory disease of the skin and other organs. Objectives To investigate the contribution of rare CARD14 variants to psoriasis in the Tunisian population and expand knowledge of CARD14 variants in the European population. Methods CARD14 coding exons were re-sequenced in psoriasis cases and controls from Tunisia and Europe including included sixteen European cases with generalized pustular psoriasis (GPP). Novel variants seen in cases were evaluated for their effect upon NF-kb signalling. Results Rare variants in CARD14 were significantly enriched in Tunisian cases compared to controls. Three were collectively found in 5% of Tunisian cases and all affected the N terminal region of the protein harbouring its CARD or coiled-coil domain. These variants were: c.349G>A (p.Gly117Ser), c.205C>T (p.Arg69Trp) and c.589G>A (p.Glu197Lys). c.589G>A (p.Glu197Lys) led to upregulation of NF-kb activity in a similar manner to previously described psoriasis-associated mutations. p.Arg69Trp led to seven fold down-regulation of NF-kb activity. One Tunisian case harboured a c.1356+5G>A splice alteration that is predicted to lead to loss of exon 9 which encodes part of the coiled-coil domain. No GPP cases harboured an IL36RN mutation, but one out of 16 GPP cases with a family history of PV harboured a c.1805C>T (p.Ser602Leu) mutation. Conclusions These observations provide further insights into the genetic basis of psoriasis in the Tunisian population and provide functional information on novel CARD14 variants seen in cases from Tunisia and other populations.

In this work we report the effect of aluminum on the physical properties of Al-doped ZnS thin films. Our samples have been synthesized by chemical bath deposition from aqueous solutions (Sahraei and Darafarin in Spectrochim Acta A Mol Biomol Spectrosc 149:941-948, 2015). X-ray diffraction analysis revealed that the films are monocrystalline and showed (111) preferred orientation for all the doping concentration. Doping ZnS thin films shows significant changes in the transmittance characteristics in the visible range. The refractive index dispersion and extinction coefficients are adequately described by the Wemple-DiDomenico model. The value of oscillator energy E 0 , dispersion energy E d , the high-frequency dielectric constant e ? and ratio of the carrier concentration to the effective mass N/m* were estimated according to the models of Wemple-DiDomenico and Spitzer-Fan. Photoluminescence behavior of Al-doped ZnS thin films was also studied.

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Rotational inelastic scattering of silyl cyanide (SiH3CN) molecule with helium (He) atoms is investigated. Three-Dimensional Potential Energy Surface (3D-PES) for the SiH3CN-He interacting system is carried out. The ab initio 3D-PES is computed using explicitly correlated Coupled Cluster approach with Single, Double and perturbative Triple excitation CCSD(T)-F12a connected to augmented-correlation consistent-polarized Valence Triple Zeta (aVTZ) Gaussian basis set. A global minimum at (R = 6.35 bohr; θ = 90○; φ = 60○) with a well depth of 52.99 cm−1 is pointed out. Inelastic rotational cross-sections are emphasized for the 22 first rotational levels for total energy up to 500 cm−1 via Close Coupling (CC) approach in the case of A-SiH3CN and for the 24 first rotational levels for total energy up to 100 cm−1 via CC and from 100 cm−1 to 500 cm−1 via Coupled States (CS) in the case of E-SiH3CN. Rate coefficients are derived for temperature until 80 K for both A- and E-SiH3CN-He systems. Propensity rules are obtained for |ΔJ| = 2 processes with broken parity for A-SiH3CN and for |ΔJ| = 2 processes with |ΔK| = 0 and unbroken parity for E-SiH3CN.