485 research outputs found
A Recessive Mutation Resulting in a Disabling Amino Acid Substitution (T194R) in the LHX3 Homeodomain Causes Combined Pituitary Hormone Deficiency
Background/Aims: Recessive mutations in the LHX3 homeodomain transcription factor gene are associated with developmental disorders affecting the pituitary and nervous system. We describe pediatric patients with combined pituitary hormone deficiency (CPHD) who harbor a novel mutation in LHX3. Methods: Two female siblings from related parents were examined. Both patients had neonatal complications. The index patient had CPHD featuring deficiencies of GH, LH, FSH, PRL, and TSH, with later onset of ACTH deficiency. She also had a hypoplastic anterior pituitary, respiratory distress, hearing impairment, and limited neck rotation. The LHX3 gene was sequenced and the biochemical properties of the predicted altered proteins were characterized. Results: A novel homozygous mutation predicted to change amino acid 194 from threonine to arginine (T194R) was detected in both patients. This amino acid is conserved in the DNA-binding homeodomain. Computer modeling predicted that the T194R change would alter the homeodomain structure. The T194R protein did not bind tested LHX3 DNA recognition sites and did not activate the a-glycoprotein and PRL target genes. Conclusion: The T194R mutation affects a critical residue in the LHX3 protein. This study extends our understanding of the phenotypic features, molecular mechanism, and developmental course associated with mutations in the LHX3 gene. copyright (C) 2012 S. Karger AG, Base
A simple braking method for six-phase induction motor drives with unidirectional power flow in the base-speed region
Induction motor drives supplied from diode front-end rectifiers are commonly used in industrial applications due to their low cost and reliability. However, the two-quadrant operation of such a topology makes the regenerative braking impossible. Braking resistors can be used to dissipate the braking power and provide enhanced braking capability, but additional hardware is then necessary. Alternatively, the braking power can be dissipated within the inverter/motor by control software reconfiguration. In this scenario, the additional degrees of freedom of multiphase drives can be used to increase the system losses without disturbing the flux and torque production. Experimental results confirm the possibility to enhance the braking capability of six-phase drives with only few changes in the control scheme
Gravimetric and biological sensors based on SAW and FBAR technologies
This presentation will describe the development of Gravimetric and Biological Sensors based on SAW and FBAR Technologies. The SAW devices were fabricated on polycrystalline ZnO thin films deposited using both standard R.F. sputtering techniques and a novel High Target Utilisation Sputtering System (HiTUS). This system ensures that we can produce the low stress films at the high deposition rates necessary for such structures to operate efficiently. However in order to further improve the sensitivity of our sensors we have also investigated the use of Thin Film Bulk Acoustic Resonators (FBARs) . We will describe standard gravimetric sensors based on such material and also gravimetric sensors for use in liquid environments through the use of inclined c-axis ZnO material. The talk will conclude with a discussion of dual mode thin film FBARs for parallel sensing of both mass loading and temperature
Sublethal exposure of small few-layer graphene promotes metabolic alterations in human skin cells
Small few-layer graphene (sFLG), a novel small-sized graphene-related material (GRM), can be considered as an intermediate degradation product of graphene. GRMs have a promising present and future in the field of biomedicine. However, safety issues must be carefully addressed to facilitate their implementation. In the work described here, the effect of sub-lethal doses of sFLG on the biology of human HaCaT keratinocytes was examined. A one-week treatment of HaCaTs with sub-lethal doses of sFLG resulted in metabolome remodeling, dampening of the mitochondrial function and a shift in the redox state to pro-oxidant conditions. sFLG raises reactive oxygen species and calcium from 24 hours to one week after the treatment and this involves the activation of NADPH oxidase 1. Likewise, sFLG seems to induce a shift from oxidative phosphorylation to glycolysis and promotes the use of glutamine as an alternative source of energy. When sub-toxic sFLG exposure was sustained for 30 days, an increase in cell proliferation and mitochondrial damage were observed. Further research is required to unveil the safety of GRMs and degradation-derived products before their use in the workplace and in practical applications
TESLA: A Gamification framework to motivate students in Industrial Engineering
Innovative learning techniques aim at promoting the motivation of students while improving the acquisition of the most relevant concepts of a subject. Towards this goal, this paper presents a gamification-based implementation executed in the industrial engineering degree of the University of Málaga (Spain). Specifically, the technique is used in the subject named Fundamentals of Electrical Engineering. The design of the gamification framework takes into account the particularities of the students. In particular, the application is intended for non-integrated groups formed by some students who have coursed the same subject in previous courses. An individual-based competition framework is developed in the context of the construction of a wireless charger for an electric vehicle, which is a topic of interest for the students. The results show that the students considered the application of this kind of technique as positive
Maternal and congenital syphilis in selected Latin America and Caribbean countries: a multi-country analysis using data from the Perinatal Information System
Search for Charginos with a Small Mass Difference with the Lightest Supersymmetric Particle at \sqrt{s} = 189 GeV
A search for charginos nearly mass-degenerate with the lightest
supersymmetric particle is performed using the 176 pb^-1 of data collected at
189 GeV in 1998 with the L3 detector. Mass differences between the chargino and
the lightest supersymmetric particle below 4 GeV are considered. The presence
of a high transverse momentum photon is required to single out the signal from
the photon-photon interaction background. No evidence for charginos is found
and upper limits on the cross section for chargino pair production are set. For
the first time, in the case of heavy scalar leptons, chargino mass limits are
obtained for any \tilde{\chi}^{+-}_1 - \tilde{\chi}^0_1 mass difference
Search for Low Scale Gravity Effects in e+e- Collisions at LEP
Recent theories propose that quantum gravity effects may be observable at LEP
energies via gravitons that couple to Standard Model particles and propagate
into extra spatial dimensions. The associated production of a graviton and a
photon is searched for as well as the effects of virtual graviton exchange in
the processes: e+e- -> gamma gamma, ZZ, WW, mu mu, tau tau, qq and ee No
evidence for this new interaction is found in the data sample collected by the
L3 detector at LEP at centre-of-mass energies up to 183 GeV. Limits close to 1
TeV on the scale of this new scenario of quantum gravity are set
IMA genome - F14 : Draft genome sequences of Penicillium roqueforti, Fusarium sororula, Chrysoporthe puriensis, and Chalaropsis populi
Draft genomes of Penicillium roqueforti, Fusarium sororula, Chalaropsis populi, and Chrysoporthe puriensis are presented.
Penicillium roqueforti is a model fungus for genetics, physiological and metabolic studies, as well as for biotechnological
applications. Fusarium sororula and Chrysoporthe puriensis are important tree pathogens, and Chalaropsis populi is a soilborne
root-pathogen. The genome sequences presented here thus contribute towards a better understanding of both
the pathogenicity and biotechnological potential of these species.The University of Pretoria, the Department of Science and Technology (DST)/National Research Foundation (NRF) Centre of Excellence in Tree Health Biotechnology (CTHB), South Africa, the Tree Protection Co-operative Programme (TPCP), the National Research Foundation and the DST-NRF SARChI chair in Fungal Genomics.http://www.imafungus.orgam2022BiochemistryForestry and Agricultural Biotechnology Institute (FABI)GeneticsMicrobiology and Plant Patholog
The impact of SARS-CoV-2 in dementia across Latin America : A call for an urgent regional plan and coordinated response
The SARS-CoV-2 global pandemic will disproportionately impact countries with weak economies and vulnerable populations including people with dementia. Latin American and Caribbean countries (LACs) are burdened with unstable economic development, fragile health systems, massive economic disparities, and a high prevalence of dementia. Here, we underscore the selective impact of SARS-CoV-2 on dementia among LACs, the specific strain on health systems devoted to dementia, and the subsequent effect of increasing inequalities among those with dementia in the region. Implementation of best practices for mitigation and containment faces particularly steep challenges in LACs. Based upon our consideration of these issues, we urgently call for a coordinated action plan, including the development of inexpensive mass testing and multilevel regional coordination for dementia care and related actions. Brain health diplomacy should lead to a shared and escalated response across the region, coordinating leadership, and triangulation between governments and international multilateral networks
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