Ala397Asp Mutation of Myosin VIIA Segregating in a Spanish Family with Usher Syndrome Type Ib

[EN] In the current study, 12 Spanish families affected by type-I Usher syndrome, that was previously linked to chromosome 11q, were screened for the presence of mutations in the N-terminal coding portion of the motor domain of the myosin VIIA gene by single-strand conformation polymorphism analysis of the first 14 exons. A mutation (Ala397Asp) segregating with the disease was identified, and several polymorphisms were also detected. It is presumed that the other USH1B mutations in these families could be located in the unscreened regions of the gene.The authors would like to thank the Fondo de Investigaciones Sanitarias (FISS n0 95/1814), the ONCE and the Fundación ONCE for financial support. We acknowledge patients and their family members, as well as the Asociación de retinosis pigmentaria de la Comunidad Valenciana and the FAARPEE, for their help and cooperation.Espinós-Armero, CÁ.; Millán, JM.; Sánchez, F.; Beneyto, M.; Nájera, C. (1998). Ala397Asp Mutation of Myosin VIIA Segregating in a Spanish Family with Usher Syndrome Type Ib. Human Genetics. 102(6):691-694. https://doi.org/10.1007/s004390050763691694102

Design of a case management model for people with chronic disease (Heart Failure and COPD). Phase I: modeling and identification of the main components of the intervention through their actors: patients and professionals (DELTA-ICE-PRO Study

Background Chronic diseases account for nearly 60% of deaths around the world. The extent of this silent epidemic has not met determined responses in governments, policies or professionals in order to transform old Health Care Systems, configured for acute diseases. There is a large list of research about alternative models for people with chronic conditions, many of them with an advanced practice nurse as a key provider, as case management. But some methodological concerns raise, above all, the design of the intervention (intensity, frequency, components, etc). Methods/Design Objectives: General: To develop the first and second phases (theorization and modeling) for designing a multifaceted case-management intervention in people with chronic conditions (COPD and heart failure) and their caregivers. Specific aims: 1) To identify key events in people living with chronic disease and their relation with the Health Care System, from their point of view. 2) To know the coping mechanisms developed by patients and their caregivers along the story with the disease. 3) To know the information processing and its utilization in their interactions with health care providers. 4) To detect potential unmet needs and the ways deployed by patients and their caregivers to resolve them. 5) To obtain a description from patients and caregivers, about their itineraries along the Health Care System, in terms of continuity, accessibility and comprehensiveness of care. 6) To build up a list of promising case-management interventions in patients with Heart Failure and COPD with this information in order to frame it into theoretical models for its reproducibility and conceptualization. 7) To undergo this list to expert judgment to assess its feasibility and pertinence in the Andalusian Health Care. Design: Qualitative research with two phases: For the first five objectives, a qualitative technique with biographic stories will be developed and, for the remaining objectives, an expert consensus through Delphi technique, on the possible interventions yielded from the first phase. The study will be developed in the provinces of Almería, Málaga and Granada in the Southern Spain, from patients included in the Andalusian Health Care Service database with the diagnosis of COPD or Heart Failure, with the collaboration of case manager nurses and general practitioners for the assessment of their suitability to inclusion criteria. Patients and caregivers will be interviewed in their homes or their Health Centers, with their family or their case manager nurse as mediator. Discussion First of a series of studies intended to design a case-management service for people with heart failure and COPD, in the Andalusian Health Care System, where case management has been implemented since 2002. Accordingly with the steps of a theoretical model for complex interventions, in this study, theorization and intervention modeling phases will be developed.This research was carried out with the support of one research grant, awarded by the Regional Health Ministry of Andalusia (Exp. 0222/2008

Visual acuity of pseudophakic patients predicted from in-vitro measurements of intraocular lenses with different design

Postprint (published version

Stress compensation by gap monolayers for stacked InAs/GaAs quantum dots solar cells

In this work we report the stacking of 10 and 50 InAs quantum dots layers using 2 monolayers of GaP for stress compensation and a stack period of 18 nm on GaAs (001) substrates. Very good structural and optical quality is found in both samples. Vertical alignment of the dots is observed by transmission electron microscopy suggesting the existence of residual stress around them. Photocurrent measurements show light absorption up to 1.2 μm in the nanostructures together with a reduction in the blue response of the device. As a result of the phosphorus incorporation in the barriers, a very high thermal activation energy (431 meV) has also been obtained for the quantum dot emission

Comparison of visual and optical quality of monofocal versus multifocal intraocular lenses

Postprint (author's final draft

Wafer-scale fabrication of target arrays for stable generation of proton beams by laser-plasma interaction

[EN] Large-scale fabrication of targets for laser-driven acceleration of ion beams is a prerequisite to establish suitable applications, and to keep up with the challenge of increasing repetition rate of currently available high-power lasers. Here we present manufacturing and test results of large arrays of solid targets for TNSA laser-driven ion acceleration. By applying micro-electro-mechanical-system (MEMS) based methods allowing for parallel processing of thousands of targets on a single Si wafer, sub-micrometric, thin-layer metallic membranes were fabricated by combining photolithography, physical and chemical vapor deposition, selective etching, and Si micromachining. These structures were characterized by using optical and atomic force microscopy. Their performance for the production of laser-driven proton beams was tested on a purpose-made table-top Ti:Sapphire laser system running at 3 TW peak power with a contrast over ASE of 108. We have performed several test series achieving maximum proton energy values around 2 MeV.This work has made use of the Spanish ICTS Network MICRONANOFABS partially supported by MEINCOM. This project has been financed by the Spanish Ministry for Economy and Competitiveness within the Retos- Colaboración 2015 initiative, ref. RTC-2015-3278-1. P. Mur has received a grant of the Garantía Juvenil 2015 program.Zaffino, R.; Seimetz, M.; Ruiz-De La Cruz, A.; Sánchez, I.; Mur, P.; Bellido-Millán, PJ.; Lera, R.... (2018). Wafer-scale fabrication of target arrays for stable generation of proton beams by laser-plasma interaction. Journal of Physics: Conference Series (Online). 1079. https://doi.org/10.1088/1742-6596/1079/1/012007S0120071079Abedi, S., Dorranian, D., Abari, M. E., & Shokri, B. (2011). Relativistic effects in the interaction of high intensity ultra-short laser pulse with collisional underdense plasma. Physics of Plasmas, 18(9), 093108. doi:10.1063/1.3633529Antici, P., Fuchs, J., d’ Humières, E., Lefebvre, E., Borghesi, M., Brambrink, E., … Pépin, H. (2007). Energetic protons generated by ultrahigh contrast laser pulses interacting with ultrathin targets. Physics of Plasmas, 14(3), 030701. doi:10.1063/1.2480610Ceccotti, T., Lévy, A., Popescu, H., Réau, F., D’Oliveira, P., Monot, P., … Martin, P. (2007). Proton Acceleration with High-Intensity Ultrahigh-Contrast Laser Pulses. Physical Review Letters, 99(18). doi:10.1103/physrevlett.99.18500

Efficient proton acceleration from a 3 TW table-top laser interacting with submicrometric mass-produced solid targets

[EN] Thin layer membranes with controllable features and material arrangements are often used as target materials for laser driven particle accelerators. Reduced cost, large scale fabrication of such membranes with high reproducibility, and good stability are central for the efficient production of proton beams. These characteristics are of growing importance in the context of advanced laser light sources where increased repetition rates boost the need for consumable targets with design and properties adjusted to study the different phenomena arising in ultra-intense laser-plasma interaction. Wepresent the fabrication of sub-micrometric thin-layer gold or aluminum membranes in a silicon wafer frame by using nano/micro-electro-mechanical-system (N/MEMS) processing which are suitable for rapid patterning and machining of many samples at the same time and allowing for high-throughput production of targets for laser-driven acceleration. Obtained targets were tested for laserproton acceleration through the Target Normal Sheath Acceleration mechanism (TNSA) in a series of experiments carried out on a purpose-made table-top Ti:Sa running at 3 TW peak power and 10 Hz diode pump rate with a contrast over ASE of 10(8)The authors highly appreciate the collaboration of Radosys (Budapest) which provided CR-39 detector material, etching bath, and readout equipment. This project has been financed by the Spanish Ministry for Economy and Competitiveness within the Retos-Colaboracion 2015 initiative, ref. RTC-2015-3278-1. P Mur has received a grant of the Garantia Juvenil 2015 program. This work has made use of the Spanish ICTS Network MICRONANOFABS partially supported by MEINCOM.Zaffino, R.; Seimetz, M.; Ruiz-De La Cruz, A.; Sánchez, I.; Mur, P.; Quirión, D.; Bellido-Millán, PJ.... (2018). Efficient proton acceleration from a 3 TW table-top laser interacting with submicrometric mass-produced solid targets. Journal of Physics Communications. 2(4):1-6. https://doi.org/10.1088/2399-6528/aabc25S1624Borghesi, M., Campbell, D. H., Schiavi, A., Haines, M. G., Willi, O., MacKinnon, A. J., … Bulanov, S. (2002). Electric field detection in laser-plasma interaction experiments via the proton imaging technique. Physics of Plasmas, 9(5), 2214-2220. doi:10.1063/1.1459457Ledingham, K., Bolton, P., Shikazono, N., & Ma, C.-M. (2014). Towards Laser Driven Hadron Cancer Radiotherapy: A Review of Progress. Applied Sciences, 4(3), 402-443. doi:10.3390/app4030402Spindloe, C., Arthur, G., Hall, F., Tomlinson, S., Potter, R., Kar, S., … Tolley, M. K. (2016). High volume fabrication of laser targets using MEMS techniques. Journal of Physics: Conference Series, 713, 012002. doi:10.1088/1742-6596/713/1/012002Schomburg, W. K. (2011). Thin Films. RWTHedition, 9-20. doi:10.1007/978-3-642-19489-4_4Bellido, P., Lera, R., Seimetz, M., Cruz, A. R. la, Torres-Peirò, S., Galán, M., … Benlloch, J. M. (2017). Characterization of protons accelerated from a 3 TW table-top laser system. Journal of Instrumentation, 12(05), T05001-T05001. doi:10.1088/1748-0221/12/05/t05001Mayer, M. (1999). SIMNRA, a simulation program for the analysis of NRA, RBS and ERDA. AIP Conference Proceedings. doi:10.1063/1.59188Ceccotti, T., Lévy, A., Popescu, H., Réau, F., D’Oliveira, P., Monot, P., … Martin, P. (2007). Proton Acceleration with High-Intensity Ultrahigh-Contrast Laser Pulses. Physical Review Letters, 99(18). doi:10.1103/physrevlett.99.185002Dollar, F., Reed, S. A., Matsuoka, T., Bulanov, S. S., Chvykov, V., Kalintchenko, G., … Maksimchuk, A. (2013). High-intensity laser-driven proton acceleration enhancement from hydrogen containing ultrathin targets. Applied Physics Letters, 103(14), 141117. doi:10.1063/1.4824361Neely, D., Foster, P., Robinson, A., Lindau, F., Lundh, O., Persson, A., … McKenna, P. (2006). Enhanced proton beams from ultrathin targets driven by high contrast laser pulses. Applied Physics Letters, 89(2), 021502. doi:10.1063/1.2220011Green, J. S., Carroll, D. C., Brenner, C., Dromey, B., Foster, P. S., Kar, S., … Zepf, M. (2010). Enhanced proton flux in the MeV range by defocused laser irradiation. New Journal of Physics, 12(8), 085012. doi:10.1088/1367-2630/12/8/085012Giuffrida, L., Svensson, K., Psikal, J., Dalui, M., Ekerfelt, H., Gallardo Gonzalez, I., … Margarone, D. (2017). Manipulation of laser-accelerated proton beam profiles by nanostructured and microstructured targets. Physical Review Accelerators and Beams, 20(8). doi:10.1103/physrevaccelbeams.20.08130

Mechanochemical Synthesis of Visible Light Sensitive Titanium Dioxide Photocatalyst

Phase transition of anatase nanoparticles into the phases TiO2-II and rutile under grinding was studied. The addition of ammonium carbamate to the reaction mixture inhibits the phase conversion and the cold welding of particles. The UV-visible absorption spectrum showed narrowing the band gap width after grinding with an ammonium carbamate additive resulting in shift of the light absorption of the ground sample towards the visible region. By EPR, intensive formation of OH• radical at irradiation of the sample with both UV (λ > 300 nm) and visible (λ > 435 nm) light was observed. High photocatalytic activity of the ground sample in visible light region was demonstrated also by measurement of kinetics of the photocatalytic decomposition of 4-chlorophenol

Strain balanced quantum posts for intermediate band solar cells

In this work we present strain balanced InAs quantum post of exceptional length in the context of photovoltaics. We discuss the general properties of these nanostructures and their impact in the practical implementation of an intermediate band solar cell. We have studied the photocurrent generated by strain balanced quantum posts embedded in a GaAs single crystal, and compared our results with quantum dot based devices. The incorporation of phosphorous in the matrix to partially compensate the accumulated stress enables a significant increase of the quantum post maximum length. The relative importance of tunneling and thermal escape processes is found to depend strongly on the geometry of the nanostructures. tunneling and thermal escape processes is found to depend strongly on the geometry of the nanostructures

Adherence to Interferon β-1b Treatment in Patients with Multiple Sclerosis in Spain

Adherence to interferon β-1b (INFβ-1b) therapy is essential to maximize the beneficial effects of treatment in multiple sclerosis (MS). For that reason, the main objectives of this study are to assess adherence to INFβ-1b in patients suffering from MS in Spain, and to identify the factors responsible for adherence in routine clinical practice.This was an observational, retrospective, cross-sectional study including 120 Spanish patients with MS under INFβ-1b treatment. Therapeutic adherence was assessed with Morisky-Green test and with the percentage of doses received. The proportion of adherent patients assessed by Morisky-Green test was 68.3%, being indicative of poor adherence. Nevertheless, the percentage of doses received, which was based on the number of injected medication, was 94.3%. The main reason for missing INFβ-1b injections was forgetting some of the administrations (64%). Therefore, interventions that diminish forgetfulness might have a positive effect in the proportion of adherent patients and in the percentage of doses received. In addition, age and comorbidities had a significant effect in the number of doses injected per month, and should be considered in the management of adherence in MS patients.Among all the available methods for assessing adherence, the overall consumption of the intended dose has to be considered when addressing adherence