Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics

A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH) alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning methods. These methods include denaturing gradient gel electrophoresis (DGGE), denaturing high performance liquid chromatography (DHPLC), and direct sequencing. In recent years, it has been shown that a significant proportion of undetermined alleles consist of large deletions overlapping one or more exons. These deletions have been difficult to detect in compound heterozygotes using gene-scanning methods due to a masking effect of the non-deleted allele. To date, no systematic search has been carried out for such exon deletions in Italian patients with phenylketonuria or mild hyperphenylalaninemia. We used multiplex ligation- dependent probe amplification (MLPA), comparative multiplex dosage analysis (CMDA), and real-time PCR to search for both large deletions and duplications of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemia patients. Four deletions removing different phenylalanine hydroxylase (PAH) gene exons were identified in 12 patients. Two of these deletions involving exons 4-5-6-7-8 (systematic name c.353-?_912 + ?del) and exon 6 (systematic name c.510-?_706 + ?del) have not been reported previously. In this study, we show that exon deletion of the PAH gene accounts for 1.7% of all mutant PAH alleles in Italian hyperphenylalaninemics.     

Kähler–Einstein metrics on Fano surfaces

We give an exposition of a result of G. Tian, which says that a Fano surface admits a Kähler–Einstein metric precisely when the Lie algebra of holomorphic vector fields is reductive.     

Non-horizontal submanifolds and coarea formula

Let k be a positive integer and let m be the dimension of the horizontal subspace of a stratified group. Under the condition k ≤ m, we show that all submanifolds of codimension k are generically non-horizontal. For these submanifolds, we prove an area-type formula that allows us to compute their Q − k dimensional spherical Hausdorff measure. Finally, we observe that a.e. level set of a sufficiently regular vector-valued mapping on a stratified group is a non-horizontal submanifold. This allows us to establish a sub-Riemannian coarea formula for vector-valued Riemannian Lipschitz mappings on stratified groups.     

A germanium photodetector array for the near infrared monolithically integrated with silicon CMOS readout electronics

Near infrared (NIR) detectors, operating in the 1.3–1.6 μm region, are key elements in a number of applications ranging from optical communications to remote sensing. InGaAs and Ge are currently the materials of choice for the fabrication of NIR detectors due to their good absorption and transport properties. However, as the required performances increase (bit-rate in optical communications, number of pixels in imaging, etc.), it becomes more and more important to reduce the separation from detectors and driving/biasing and amplifying electronics, by integrating the two components on the same chip.We demonstrate an array of NIR detectors monolithically integrated with standard silicon CMOS readout electronics. The employed low temperature process allowed the integration of the detectors as the last step of chip fabrication. The integrated micro-system consists of a linear array of 120×120 μm² pixels, an analog CMOS multiplexer and a transimpedance amplifier. The chip exhibits a good photoresponse in the NIR, with responsivities as high as 43 V/W at 1.3 μm, dark currents of 1 mA/cm² and inter-pixel cross-talk better than −20 dB.     

HOA (Heaviside Operational Ansatz) revisited: recent remarks on novel exact solution methodologies in wavefunction analysis

A viable methodology for the exact analytical solution of the multiparticle Schrodinger and Dirac equations has long been considered a holy grail of theoretical chemistry. Since a benchmark work by Torres-Vega and Frederick in the 1990s, the QPSR (Quantum Phase Space Representation) has been explored as an alternate method for solving various physical systems. Recently, the present author has developed an exact analytical symbolic solution scheme for broad classes of differential equations utilizing the HOA (Heaviside Operational Ansatz). An application of the scheme to chemical systems was initially presented in Journal of Mathematical Chemistry (Toward chemical applications of Heaviside Operational Ansatz: exact solution of radial Schrodinger equation for nonrelativistic N-particle system with pairwise 1/r(I) radial potential in quantum phase space. Journal of Mathematical Chemistry, 2009; 45(1):129–140). It is believed that the coupling of HOA with QPSR represents not only a fundamental breakthrough in theoretical physical chemistry, but it is promising as a basis for exact solution algorithms that would have tremendous impact on the capabilities of computational chemistry/physics. The novel methods allow the exact determination of the momentum [and configuration] space wavefunction from the QPSR wavefunction by way of a Fourier transform. In this note some remarks, examples and further directions, concerning HOA as a tool to solve and provide analytical insight into solutions of dynamical systems occurring in, but not limited to Mathematical Chemistry, are also posited.     

The effect of octahedral tilting on proton binding sites and transition states in pseudo-cubic perovskite oxides

Proton conducting oxide ceramics have shown potential for use in fuel cell technologies. Understanding the energy pathways for proton conduction could help us design more efficient fuel cell materials. This paper describes how octahedral tilting affects the relative energies of proton binding sites, transition states, and conduction pathways in cubic and pseudo-cubic perovskites. First, the structure for cubic and pseudo-cubic forms of BaTiO(3), BaZrO(3), CaTiO(3), and CaZrO(3), is found. Even when cubic symmetry is enforced, CaTiO(3), and CaZrO(3) exhibit octahedral tilting distortions characteristic of orthorhombic phases while BaTiO(3) and BaZrO(3) remain undistorted. Octahedral tilting gives rise to proton binding sites facilitating inter- and intra-octahedral proton transfer while the proton binding sites of undistorted perovskites facilitate only intra-octahedral proton transfer. The nudged elastic band method is used to find minimum energy paths between the proton binding sites. As distortions increase, inter-octahedral proton transfer barriers decrease while intra-octahedral proton transfer barriers increase. Concurrently, rotational barriers from oxygens facilitating inter-octahedral proton transfer increase while rotational barriers from oxygens facilitating intra-octahedral proton transfer decrease. Intra-octahedral transfer is the rate-limiting step to the lowest energy extended proton conduction pathway in all the perovskites considered.     

Experimental analysis of low-Reynolds number free jets

The present paper analyzes the features of a low-Reynolds number free submerged jet with special regard to statistical quantities on the jet centerline. Measurements in an environment with very low disturbances allowed to observe details of turbulence and higher-order moments. Some peculiar features of the measured (natural) jet are shown to be in correspondence to observations referring to forced higher-Reynolds number jets. In particular, it is shown that, at low Reynolds numbers, the initial region of the jet is dominated by well-defined vortices in the shear layer. This result is substantiated by both the statistical moments and the spectral analysis. The presence of two distinct regimes is evidenced and discussed from a physical standpoint, also in relation to the mathematical analysis of the jet structure from the bibliography.

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