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Biomedical subjects

Oscar Martínez

Publications and source records attributed to Oscar Martínez.

7 recordsLinked to original sources

Suppression of the acuH13 and acuH31 nonsense mutations in the carnitine/acylcarnitine translocase (acuH) gene of Aspergillus nidulans by the G265S substitution in the domain 2 of the release factor eRF1.

A search for suppressors of the carnitine/acylcarnitine translocase (CACT) deficiency in Aspergillus nidulans permitted the identification of the suaE7 mutation, mapping at a new translational suppressor (suaE) gene. The suaE gene is essential in A. nidulans and encodes the eukaryotic release factor 1 (eRF1). The suaE7 mutation suppresses two acuH alleles (acuH13 and acuH31), both carrying nonsense mutations in the CACT encoding gene that involve the replacement of a CAG (Gln) codon with a premature TAG stop codon. In contrast, the suaE7 gene does not suppress the acuH20 amber nonsense mutation involving a TGG-->TAG change. The phenotype associated to the suaE7 mutation strictly resembles that of mutants at the suaA and suaC genes, two translational suppressor genes previously identified, suggesting that their gene products might functionally interact in translation termination. Sequencing of the suaE7 gene allowed the identification of a mutation in the domain 2 of the omnipotent class-1 eukaryotic release factor involving the Gly265Ser substitution in the A. nidulans eRF1. This mutation creates a structural context unfavourable for normal eRF binding that allows the misreading of stop codons by natural suppressor tRNAs, such as the tRNAs(Gln). Structural analysis using molecular modelling of A. nidulans eRF1 domain 2 bearing the G265S substitution and computer simulation results suggest that this mutation might impair the necessary conformational changes in the eRF1 to optimally recognize the stop codon and simultaneously interact with the peptidyl transferase centre of the 60S ribosomal subunit.

Amino Acid Sequence↗

The progressive focusing correction technique for ultrasound beamforming.

This work presents a novel method for digital ultrasound beamforming based on programmable table look-ups, in which vectors containing coded focusing information are efficiently stored, achieving an information density of a fraction of bit per acquired sample. Timing errors at the foci are within half the period of a master clock of arbitrarily high frequency to improve imaging quality with low resource requirements. The technique is applicable with conventional as well as with deltasigma converters. The bit-width of the focusing code and the number of samples per focus can be defined to improve both memory size and F# with controlled timing errors. In the static mode, the number of samples per focus is fixed, and in the dynamic approach that figure grows progressively, taking advantage of the increasing depth of focus. Furthermore, the latter has the lowest memory requirements. The technique is well suited for research purposes as well as for real-world applications, offering a degree of freedom not available with other approaches. It allows, for example, modifying the sampling instants to phase aberration correction, beamforming in layered structures, etc. The described modular and scalable prototype has been built using low-cost field programmable gate arrays (FPGAs). Experimental measurements are in good agreement with the theoretically expected errors.

Algorithms↗

Beam steering with segmented annular arrays.

Two-dimensional (2-D) arrays of squared matrix have maximum periodicity in their main directions; consequently, they require half wavelength (lambda/2), interelement spacing to avoid grating lobes. This condition gives rise to well-known problems derived from the huge number of array elements and from their small size. In contrast, 2-D arrays with curvilinear configuration produce lower grating lobes and, therefore, allow the element size to be increased beyond lambda/2. Using larger elements, these arrays have the advantage of reducing the number of elements and of increasing the signal-to-noise ratio (SNR). In this paper, the beamforming properties of segmented annular phased arrays are theoretically analyzed and compared with the equivalent squared matrix array. In the first part, point-like elements are considered in order to facilitate the field analysis with respect to the array structure. Afterward, the effect of the element size on the steered beam properties also is presented. In the examples, it is shown that the segmented annular array has notably lower grating lobes than the equivalent squared matrix array and that it is possible to design segmented annular arrays with interelement distance higher than lambda whose beam characteristics are perfectly valid for volumetric imaging applications.

Letter↗

Double frequency piezoelectric transducer design for harmonic imaging purposes in NDT.

Harmonic imaging (HI) has emerged as a very promising tool for medical imaging, although there has been little published work using this technique in ultrasonic nondestructive testing (NDT). The core of the technique, which uses nonlinear propagation effects arising in the medium due to the microstructure or the existence of defects, is the ability to design transducers capable of emitting at one frequency and receiving at twice this frequency. The transducers that have been used so far are usually double crystal configurations with coaxial geometry, and commonly using a disc surrounded by a ring. Such a geometry permits the design of broadband transducers if each transducer element is adapted to the medium with its corresponding matching layers. Nevertheless, the different geometry of the emission and reception apertures creates difficulties when resolving the images. In this work, a new transducer design with different emission and reception apertures is resented. It makes use of the traditional construction procedures used to make piezocomposite transducers and the well-known theory of the mode coupling in piezoelectric resonators when the lateral dimensions are comparable with the thickness of the piezoceramic. In this work the design, construction, and characterization of a prototype to be used in NDT of metallic materials is presented. The acoustic field is calculated using water as a propagation medium, and these theoretical predictions then are compared with the experimental measurements. The predicted acoustic performances for the case of propagation in stainless steel are shown.

Journal Article↗

Complex dynamics in simple systems with periodic parameter oscillations.

We study systems with periodically oscillating parameters that can give way to complex periodic or nonperiodic orbits. Performing the long time limit, we can define ergodic averages such as Lyapunov exponents, where a negative maximal Lyapunov exponent corresponds to a stable periodic orbit. By this, extremely complicated periodic orbits composed of contracting and expanding phases appear in a natural way. Employing the technique of epsilon-uncertain points, we find that values of the control parameters supporting such periodic motion are densely embedded in a set of values for which the motion is chaotic. When a tiny amount of noise is coupled to the system, dynamics with positive and with negative nontrivial Lyapunov exponents are indistinguishable. We discuss two physical systems, an oscillatory flow inside a duct and a dripping faucet with variable water supply, where such a mechanism seems to be responsible for a complicated alternation of laminar and turbulent phases.

Adaptation, Physiological↗

A computational method to calculate the longitudinal wave evolution caused by interfaces between isotropic media.

This paper presents a computational method to calculate the reflected and transmitted ultrasonic fields at interfaces of complex geometry. The method is performed in two steps. As first step, the velocity potential impulse response from an arbitrary aperture is determined at the interface using the Rayleigh integral and considering the reflection and transmission coefficients. In a second step, the simulated fields are calculated by applying the Rayleigh-Sommerfeld integral to the whole, extended interface. In order to validate the method, some experimental cases as, for instance, plane and cylindrical concave surfaces between two media (water-acrylic) were tested. The experimental ultrasonic fields are in good agreement with those provided by the model. Furthermore, in the work, the compromise between the accuracy of the method and the computation time is studied.

Journal Article↗

Functional analysis of mutations in the human carnitine/acylcarnitine translocase in Aspergillus nidulans.

Deficiency of the carnitine/acylcarnitine translocase (CACT), the most severe disorder of fatty acid beta-oxidation, is usually lethal in both humans and animals, precluding the development of animal models of the disease. In contrast, CACT deficiency is conditionally lethal in the fungus Aspergillus nidulans, since loss-of-function mutations in acuH, the translocase structural gene, do not prevent growth on carbon sources other than ketogenic compounds, such as fatty acids. Here, we describe the molecular characterization of extant acuH alleles and the development of a fungal model for CACT deficiency based on the ability of human CACT to fully complement, when expressed at physiological levels, the growth defect of an A. nidulans DeltaacuH strain on acetate and long-chain fatty acids. By using growth tests and in vitro assays this model enabled us to carry out a functional characterization of human CACT mutations showing that it may be useful for distinguishing potentially pathogenic human CACT missense mutations from neutral, single residue substitution-causing polymorphisms.

Aspergillus nidulans↗