Papers by José Carlos Menacho Moreno
Genes, 2020
Two siblings from a Mexican family who carried lethal Raine syndrome are presented. A newborn ter... more Two siblings from a Mexican family who carried lethal Raine syndrome are presented. A newborn term male (case 1) and his 21 gestational week brother (case 2), with a similar osteosclerotic pattern: generalized osteosclerosis, which is more evident in facial bones and cranial base. Prenatal findings at 21 weeks and histopathological features for case 2 are described. A novel combination of biallelic FAM20C pathogenic variants were detected, a maternal cytosine duplication at position 456 and a paternal deletion of a cytosine in position 474 in exon 1, which change the reading frame with a premature termination at codon 207 and 185 respectively. These changes are in concordance with a negative detection of the protein in liver and kidney as shown in case 2. Necropsy showed absence of pancreatic Langerhans Islets, which are reported here for the first time. Corpus callosum absence is added to the few reported cases of brain defects in Raine syndrome. This report shows two new FAM20C va...
Energies, 2017
Non-linear high-power devices produce electromagnetic noise (EMN) sources of great intensity that... more Non-linear high-power devices produce electromagnetic noise (EMN) sources of great intensity that can disrupt and damage the surrounding electrical equipment and devices. This radiative phenomenon is very common at facilities where pulsed power generators are required, particularly those that are needed to produce dense transient plasma experiments. These conditions are found at the Chilean Nuclear Energy Commission (CCHEN), due to the presence of pulsed power generators that switch large currents (kA-MA) in short times (10-100 ns). In order to characterize and establish conditions to mitigate the effects of the EMN on nearby devices, a measurement system based on an ultra-high frequency (UHF) dipole antenna was developed. We evaluated the system measuring the EMN emanated from a plasma focus device, the PF-400J. Measurements at the place indicated broadband and intense electric fields that can couple to nearby cables and equipment (10-300 MHz bandwidth, up to 350 V/MHz spectral intensity, 100 V coupled voltage). Based on these measurements a compact and simple protection system was designed, built and tested, capable of effectively mitigating the high levels of EMN. The proper EMN impact mitigation indicates the correct operation of the suggested system. The developed system can be of interest to the energy community by facilitating EMN measurement produced by arc discharges.
Revista Ingenieria Uc, 2013
El software multimedia descrito en este documento está diseñado para la educación en ingeniería a... more El software multimedia descrito en este documento está diseñado para la educación en ingeniería a nivel universitario. Su objetivo es ayudar a los estudiantes a comprender, visualizar y enlazar los conceptos básicos relacionados alárea del control automático de procesos. No es una herramienta para el diseño, es más bien un recurso dinámico, flexible y didáctico dirigido a docentes y estudiantes para ser utilizado como recurso de apoyo para el aprendizaje del control de procesos. Para su desarrollo se utilizaron los programas: Director 7, quien se apoya para el desarrollo de las aplicaciones en el lenguaje orientado a objetos llamado Lingo; para la generación de las animaciones se utilizó Flash y para simulaciones de los procesos, además de la resolución de los problemas planteados se utilizó Matlab con Simulink.
Reumatología Clínica, 2008
IEEE Transactions on Plasma Science, 2011
Dynamics in the radial phase and plasma conditions in the pinch phase have been studied using int... more Dynamics in the radial phase and plasma conditions in the pinch phase have been studied using interferometry in a plasma focus device that operates in the range of tens of joules of stored energy in the capacitor bank and tens of kiloamperes, PF-50J. The results of these experiments using deuterium as filling gas, together with the simultaneous measurements of neutron production, are reported in this paper. The results show that the typical dynamics, pinch conditions, and electron density observed in larger machines are also present in this experiment operated at only tens of joules. Index Terms-Neutron emission, pinch plasma density, plasma focus (PF). I. INTRODUCTION T HE PF-50J is a small fast plasma focus (PF) device conceived to operate in the range of tens of joules and tens of kiloamperes. It has been constructed at the Chilean Nuclear Energy Commission, being an improved version of a previous design [1], [2]. The main electric characteristics of the device are as follows: 160-nF equivalent capacitance, ∼40-nH total inductance in a short circuit, 150-ns first quarter of a period, 25-30-kV charge voltage, energy E ∼ 50-72 J, and 50-70-kA peak current in a short circuit. In a PF, after that a plasma sheet is formed over the insulator surface, the plasma sheet first moves toward the anode end (axial phase) and then implodes on the anode axis (radial phase) [3]. The last is being accompanied by the pinch evidence given by the characteristic dip and peak in the current derivative and voltage
International Journal of Molecular Sciences
FAM20C is a gene coding for a protein kinase that targets S-X-E/pS motifs on different phosphopro... more FAM20C is a gene coding for a protein kinase that targets S-X-E/pS motifs on different phosphoproteins belonging to diverse tissues. Pathogenic variants of FAM20C are responsible for Raine syndrome (RS), initially described as a lethal and congenital osteosclerotic dysplasia characterized by generalized atherosclerosis with periosteal bone formation, characteristic facial dysmorphisms and intracerebral calcifications. The aim of this review is to give an overview of targets and variants of FAM20C as well as RS aspects. We performed a wide phenotypic review focusing on clinical aspects and differences between all lethal (LRS) and non-lethal (NLRS) reported cases, besides the FAM20C pathogenic variant description for each. As new targets of FAM20C kinase have been identified, we reviewed FAM20C targets and their functions in bone and other tissues, with emphasis on novel targets not previously considered. We found the classic lethal and milder non-lethal phenotypes. The milder phenoty...
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Papers by José Carlos Menacho Moreno