Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia

Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a difficult-to-diagnose cause of sudden cardiac death (SCD). We identified a family of 1400 individuals with multiple cases of CPVT, including 36 SCDs during youth. Objectives We sought to identify the genetic cause of CPVT in this family, to preventively treat and clinically characterize the mutation-positive individuals, and to functionally characterize the pathogenic mechanisms of the mutation. Methods Genetic testing was performed for 1404 relatives. Mutation-positive individuals were preventively treated with β-blockers and clinically characterized with a serial exercise treadmill test (ETT) and Holter monitoring. In vitro functional studies included caffeine sensitivity and store overload–induced calcium release activity of the mutant channel in HEK293 cells. Results We identified the p.G357S_RyR2 mutation, in the cardiac ryanodine receptor, in 179 family members and in 6 SCD cases. No SCD was observed among treated mutation-positive individuals over a median follow-up of 37 months; however, 3 relatives who had refused genetic testing (confirmed mutation-positive individuals) experienced SCD. Holter monitoring did not provide relevant information for CPVT diagnosis. One single ETT was unable to detect complex cardiac arrhythmias in 72% of mutation-positive individuals, though the serial ETT improved the accuracy. Functional studies showed that the G357S mutation increased caffeine sensitivity and store overload–induced calcium release activity under conditions that mimic catecholaminergic stress. Conclusion Our study supports the use of genetic testing to identify individuals at risk of SCD to undertake prophylactic interventions. We also show that the pathogenic mechanisms of p.G357S_RyR2 appear to depend on β-adrenergic stimulation

Interaction between hydrodynamics and seagrass canopy structure: Spatially explicit effects on ammonium uptake rates

The hypotheses that (1) different seagrass morphologies may facilitate different nutrient uptake rates under similar hydrodynamic forcing and (2) this effect on nutrient uptake rates is spatially explicit, with the highest uptake rates at edges of patches, where currents and turbulence are highest, were examined under unidirectional flow conditions.We thank Jos van Soelen, Bas Koutstaal, and Louie Haazen for invaluable technical assistance. In addition, we are grateful to Britta Gribsholt, Bart Veuger, Miguel Bernal, Juan Jose Vergara, and Alfredo Izquirdo for helpful discussion. In addition, we thank Josef D. Ackerman and the anonymous reviewers for comments that greatly improved the manuscript. This work and the first author were supported by an EU Marie Curie host fellowship for transfer of knowledge, MTKD-CT-2004-509254, and the Spanish national project EVAMARIA, CTM2005-00395/MAR. F.G.B. holds an EU Marie Curie individual fellowship, MEIF-CT-2005-515071. This is publication 4251 of the Netherlands Institute of Ecology (NIOO-KNAW)

Influence of defects on the irreversible phase transition in the Fe-Pd doped with Co and Mn

The appearance of BCT martensite in Fe-Pd-based ferromagnetic shape memory alloys, which develops at lower temperatures than the thermoelastic martensitic transition, deteriorates the shape memory properties. In a previous work performed in Fe70Pd30, it was shown that a reduction in defects density reduces the non thermoelastic FCT-BCT transformation temperature. In the present work, the influence of quenched-in-defects upon the intensity and temperature of the thermoelastic martensitic (FCC-FCT) and the non thermoelastic (FCT-BCT) transitions in Fe-Pd doped with Co and Mn is studied. Differential scanning calorimetric and mechanical spectroscopy studies demonstrate that a reduction in the dislocation density the stability range of the FCC-FCT reversible transformation in Fe67Pd30Co3 and Fe66.8Pd30.7Mn2.5 ferromagnetic shape memory alloys.Fil: Bonifacich, Federico Guillermo. Universidad Nacional de Rosario. Facultad de Ciencias Exactas Ingeniería y Agrimensura. Escuela de Ingeniería Eléctrica. Laboratorio de Extensión e Investigación en Materiales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Lambri, Osvaldo Agustin F.. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Exactas Ingeniería y Agrimensura. Escuela de Ingeniería Eléctrica. Laboratorio de Extensión e Investigación en Materiales; ArgentinaFil: Gargicevich, Damian. Universidad Nacional de Rosario. Facultad de Ciencias Exactas Ingeniería y Agrimensura. Escuela de Ingeniería Eléctrica. Laboratorio de Extensión e Investigación en Materiales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Zelada, Griselda Irene. Universidad Nacional de Rosario. Facultad de Ciencias Exactas Ingeniería y Agrimensura. Escuela de Ingeniería Eléctrica. Laboratorio de Extensión e Investigación en Materiales; ArgentinaFil: Pérez Landazábal, J. I.. Universidad Publica de Navarra; EspañaFil: Recarte, V.. Universidad Publica de Navarra; EspañaFil: Sánchez Alarcos, V.. Universidad Publica de Navarra; Españ

Exploring the evolutionary paths of the most massive galaxies since z~2

We use Spitzer MIPS data from the FIDEL Legacy Project in the Extended Groth Strip to analyze the stellar mass assembly of massive (M>10^11 M_sun) galaxies at z<2 as a function of structural parameters. We find 24 micron emission for more than 85% of the massive galaxies morphologically classified as disks, and for more than 57% of the massive systems morphologically classified as spheroids at any redshift, with about 8% of sources harboring a bright X-ray and/or infrared emitting AGN. More noticeably, 60% of all compact massive galaxies at z=1-2 are detected at 24 micron, even when rest-frame optical colors reveal that they are dead and evolving passively. For spheroid-like galaxies at a given stellar mass, the sizes of MIPS non-detections are smaller by a factor of 1.2 in comparison with IR-bright sources. We find that disk-like massive galaxies present specific SFRs ranging from 0.04 to 0.2 Gyr^-1 at z<1 (SFRs ranging from 1 to 10 M_sun/yr), typically a factor of 3-6 higher than massive spheroid-like objects in the same redshift range. At z>1, and more pronouncedly at z>1.3, the median specific SFRs of the disks and spheroids detected by MIPS are very similar, ranging from 0.1 to 1 Gyr^-1 (SFR=10-200 M_sun/yr). We estimate that massive spheroid-like galaxies may have doubled (at the most) their stellar mass from star-forming events at z<2: less than 20% mass increase at 1.7<z<2.0, up to 40% more at 1.1<z<1.7, and less than 20% additional increase at z<1. Disk-like galaxies may have tripled (at the most) their stellar mass at z<2 from star formation alone: up to 40% mass increase at 1.7<z<2.0, and less than 180% additional increase below z=1.7 occurred at a steady rate.Comment: Accepted for publication in ApJ; 10 pages, 5 figures, 1 tabl

Linear and nonlinear optical properties of carbon nanotube-coated single-mode optical fiber gratings

This paper was published in OPTICS LETTERS and is made available as an electronic reprint with the permission of OSA. The paper can be found at the following URL on the OSA website: http://dx.doi.org/10.1364/OL.36.002104. Systematic or multiple reproduction or distribution to multiple locations via electronic or other means is prohibited and is subject to penalties under law[EN] Single-wall carbon nanotube deposition on the cladding of optical fibers has been carried out to fabricate an all-fiber nonlinear device. Two different nanotube deposition techniques were studied. The first consisted of repeatedly immersing the optical fiber into a nanotube supension, increasing the thickness of the coating in each step. The second deposition involved wrapping a thin film of nanotubes around the optical fiber. For both cases, interaction of transmitted light through the fiber core with the external coating was assisted by the cladding mode resonances of a tilted fiber Bragg grating. Ultrafast nonlinear effects of the nanotube-coated fiber were measured by means of a pump-probe pulses experiment. © 2011 Optical Society of America.This work was financially supported by the European Commission under the FP7 EURO-FOS Network of Excellence (ICT-2007-2-224402), the Ministerio de Educación y Ciencia SINADEC project (TEC2008-06333), and the Natural Sciences and Engineering Research Council of Canada (NSERC). The work of G. E. Villanueva was supported by the Ministerio de Educación y Ciencia Formación de Profesorado Universitario programs. The work of P. Pérez-Millán was supported by the Juan de la Cierva program, JCI-2009-05805.Villanueva Ibáñez, GE.; Jakubinek, M.; Simard, B.; Oton Nieto, CJ.; Matres Abril, J.; Shao, L.; Pérez Millán, P.... (2011). Linear and nonlinear optical properties of carbon nanotube-coated single-mode optical fiber gratings. Optics Letters. 36(11):2104-2106. https://doi.org/10.1364/OL.36.002104S210421063611Sakakibara, Y., Rozhin, A. G., Kataura, H., Achiba, Y., & Tokumoto, M. (2005). Carbon Nanotube-Poly(vinylalcohol) Nanocomposite Film Devices: Applications for Femtosecond Fiber Laser Mode Lockers and Optical Amplifier Noise Suppressors. Japanese Journal of Applied Physics, 44(4A), 1621-1625. doi:10.1143/jjap.44.1621Chow, K. K., Yamashita, S., & Song, Y. W. (2009). A widely tunable wavelength converter based on nonlinear polarization rotation in a carbon-nanotube-deposited D-shaped fiber. Optics Express, 17(9), 7664. doi:10.1364/oe.17.007664Set, S. Y., Yaguchi, H., Tanaka, Y., & Jablonski, M. (2004). Ultrafast Fiber Pulsed Lasers Incorporating Carbon Nanotubes. IEEE Journal of Selected Topics in Quantum Electronics, 10(1), 137-146. doi:10.1109/jstqe.2003.822912Chow, K. K., Tsuji, M., & Yamashita, S. (2010). Single-walled carbon-nanotube-deposited tapered fiber for four-wave mixing based wavelength conversion. Applied Physics Letters, 96(6), 061104. doi:10.1063/1.3304789Chow, K. K., & Yamashita, S. (2009). Four-wave mixing in a single-walled carbon-nanotube-deposited D-shaped fiber and its application in tunable wavelength conversion. Optics Express, 17(18), 15608. doi:10.1364/oe.17.015608Choi, S. Y., Rotermund, F., Jung, H., Oh, K., & Yeom, D.-I. (2009). Femtosecond mode-locked fiber laser employing a hollow optical fiber filled with carbon nanotube dispersion as saturable absorber. Optics Express, 17(24), 21788. doi:10.1364/oe.17.021788Chan, C.-F., Chen, C., Jafari, A., Laronche, A., Thomson, D. J., & Albert, J. (2007). Optical fiber refractometer using narrowband cladding-mode resonance shifts. Applied Optics, 46(7), 1142. doi:10.1364/ao.46.001142Kingston, C. T., Jakubek, Z. J., Dénommée, S., & Simard, B. (2004). Efficient laser synthesis of single-walled carbon nanotubes through laser heating of the condensing vaporization plume. Carbon, 42(8-9), 1657-1664. doi:10.1016/j.carbon.2004.02.020Jakubinek, M. B., Johnson, M. B., White, M. A., Guan, J., & Simard, B. (2010). Novel Method to Produce Single-Walled Carbon Nanotube Films and Their Thermal and Electrical Properties. Journal of Nanoscience and Nanotechnology, 10(12), 8151-8157. doi:10.1166/jnn.2010.3014Vallaitis, T., Koos, C., Bonk, R., Freude, W., Laemmlin, M., Meuer, C., … Leuthold, J. (2008). Slow and fast dynamics of gain and phase in a quantum dot semiconductor optical amplifier. Optics Express, 16(1), 170. doi:10.1364/oe.16.00017

Propiedades psicométricas de la adaptación española de la Clance Impostor Phenomenon Scale (S-CIPS)

The aim of this study was to examine the reliability, validity, and factorial structure of the Spanish version of the Clance Impostor Phenomenon Scale (CIPS). A sample of 271 Spanish students was recruited to complete a translated version of the original 20-item CIPS. In our sample, the instrument showed high internal consistency reliability (ωTotal=.90) and a moderate-to-strong correlation with measures of depression (r= .633), self-esteem (r= -.754) and fear of negative evaluation (r= .666), suggesting both nomological and discriminant validity. Althoughthe original valida-tion of the CIPS proposed a factorial structure with three factors, subsequent validations also revealed adjustment to two-and one-factor structures. Here, we used confirmatory factor analysis (CFA) to test the three different models. The results showed that in our adaptation, a 2-factor structure might be preferred. This adaptation of the CIPS to Spanish provides clinicians with a new method to gain insight into the psychological mechanisms behind the Impostor phenomenon and suitable treatmentsEl objetivo del presente estudio fue el de examinar la fiabilidad, validez y estructura factorial de la adaptación española de la Clance Impostor Phenomenon Scale (CIPS). Para ello, un total de 271 estudiantes españoles completaron una versión traducida de la escala original de 20 ítems. En nuestra muestra, el instrumento mostró una alta fiabilidad, medida como consistencia interna, (ωTotal=.90) y correlaciones moderadas-altas con medidas de depresión (r=.633), autoestima (r= -.754) y miedo a las evaluaciones negativas (r= .666), lo cual sugiere tanto una validez nomológica como discriminante. Aunque en la validación original se propuso una estructura de tres factores, otros estudios han encontrado ajuste a estructuras de uno y dos factores. Aquí, utilizamos un análisis factorial confirmatorio (AFC) para probar el ajuste de estos tres modelos. Nuestros resultados muestran que, en la adaptación a español, el modelo con dos factores es el preferido. Esta adaptación al español de la CIPS provee a los profesionales clínicos una de una nueva herramienta para poder investigar los mecanismos que subyacen al síndrome del impostor, así como futuros tratamientos

An HST/NICMOS view of the prototypical giant HII region NGC604 in M33

We present the first high-spatial resolution near-infrared (NIR) imaging of NGC 604, obtained with the NICMOS camera aboard the Hubble Space Telescope (HST). These NICMOS broadband images reveal new NIR point sources, clusters, and diffuse structures. We found an excellent spatial correlation between the 8.4 GHz radio continuum and the 2.2mu-m nebular emission. Moreover, massive young stellar object candidates appear aligned with these radio peaks, reinforcing the idea that those areas are star-forming regions. Three different scaled OB associations are recognized in the NICMOS images. The brightest NIR sources in our images have properties that suggest that they are red supergiant stars, of which one of them was previously known. This preliminary analysis of the NICMOS images shows the complexity of the stellar content of the NGC 604 nebula.Comment: Paper presented in the Workshop "Young massive star clusters: initial conditions and environments" (Granada, Spain - Sept 2007). Astrophysics & Space Science in press, 7 pages, 4 figure

Supervised oral HIV self-testing is accurate in rural KwaZulu Natal, South Africa

Objectives: To achieve UNAIDS 90-90-90 targets, alternatives to conventional HIV testing models are necessary in South Africa to increase population awareness of their HIV status. One of the alternatives is oral mucosal transudates-based HIV self-testing (OralST). This study describes implementation of counsellor-introduced supervised OralST in a high HIV prevalent rural area. Methods: Cross-sectional study conducted in two government-run primary healthcare clinics and three Médecins Sans Frontières-run fixed-testing sites in uMlalazi municipality, KwaZulu-Natal. Lay counsellors sampled and recruited eligible participants, sought informed consent and demonstrated the use of the OraQuick(™) OralST. The participants used the OraQuick(™) in front of the counsellor and underwent a blood-based Determine(™) and a Unigold(™) rapid diagnostic test as gold standard for comparison. Primary outcomes were user error rates, inter-rater agreement, sensitivity, specificity and predictive values. Results: A total of 2198 participants used the OraQuick(™) , of which 1005 were recruited at the primary healthcare clinics. Of the total, 1457 (66.3%) were women. Only two participants had to repeat their OraQuick(™) . Inter-rater agreement was 99.8% (Kappa 0.9925). Sensitivity for the OralST was 98.7% (95% CI 96.8-99.6), and specificity was 100% (95% CI 99.8-100). Conclusion: This study demonstrates high inter-rater agreement, and high accuracy of supervised OralST. OralST has the potential to increase uptake of HIV testing and could be offered at clinics and community testing sites in rural South Africa. Further research is necessary on the potential of unsupervised OralST to increase HIV status awareness and linkage to care