Lack of evidence for monosomy 1p36 in patients with Prader-Willi-like phenotype

Monosomy 1p36 is the most common subtelomeric microdeletion syndrome with an incidence rate estimated to be 1 in 5000 births. A hypothesis of a similarity between patients with 1p36 deletion and those with Prader-Willi syndrome and the existence of two different phenotypes for 1p36 microdeletion has been suggested. The main objective of the present study was to determine the existence of 1p36 microdeletion in a sample of patients with mental retardation, obesity and hyperphagia who tested negative by the methylation test for Prader-Willi syndrome. Sixteen patients (7 females, 9 males), 16-26 years old, were evaluated with high-resolution cytogenetic analysis at 550-850 band levels and with 11 polymorphic microsatellite markers located in the 1p36 region. All patients had normal cytogenetic and molecular results. The results obtained by high-resolution cytogenetic methodology were confirmed by the molecular analyses. We did not detect a 1p36 microdeletion in 16 subjects with the Prader-Willi-like phenotype, which reinforces that no correlation seems to exist between Prader-Willi-like phenotype and the 1p36 microdeletion syndrome

Simulation Studies on Arrival Time Distributions of Cherenkov Photons in Extensive Air Showers

Atmospheric Cherenkov technique is an established methodology to study TeV energy gamma rays. Here we carry out systematic monte carlo simulation studies of the timing information of Cherenkov photons. Extensive studies have already been carried out in this regard. Most of these are carried out at higher energies with the aim of studying the elemental composition of cosmic rays. However not much attention is paid to the species dependent signatures at TeV energies. In this work, functional fits have been carried out to the spherical Cherenkov shower fronts and the radii of curvature have been found to be equal to the height of shower maximum irrespective of the species or the observation level. Functional fits have also been carried out to describe the pulse shapes at various core distances in terms of well known probability density distribution functions (PDF). Two types of PDF's have been tried viz. gamma function and lognormal function. The variation of the pulse shape parameters as a function of primary energy, observation height and incident angles have been studied. The possibility of deriving the pulse shape parameters like the rise & decay times, full width at half maximum from the easily measurable quantities like the mean and RMS variation of photon arrival times offers a very important new technique which can be easily applied in an observation.Comment: 34 pages, 14 figures, accepted for publication in Astroparticle Physic

A special perturbation method in orbital dynamics

The special perturbation method considered in this paper combines simplicity of computer implementation, speed and precision, and can propagate the orbit of any material particle. The paper describes the evolution of some orbital elements based in Euler parameters, which are constants in the unperturbed problem, but which evolve in the time scale imposed by the perturbation. The variation of parameters technique is used to develop expressions for the derivatives of seven elements for the general case, which includes any type of perturbation. These basic differential equations are slightly modified by introducing one additional equation for the time, reaching a total order of eight. The method was developed in the Grupo de Dinámica de Tethers (GDT) of the UPM, as a tool for dynamic simulations of tethers. However, it can be used in any other field and with any kind of orbit and perturbation. It is free of singularities related to small inclination and/or eccentricity. The use of Euler parameters makes it robust. The perturbation forces are handled in a very simple way: the method requires their components in the orbital frame or in an inertial frame. A comparison with other schemes is performed in the paper to show the good performance of the method

Aplicación de las Nuevas Tecnologías GPS-GPRS para el estudio del comportamiento y mejora de la producción de la raza de lidia

La dehesa es un ecosistema agroforestal único que aúna un óptimo rendimiento económico con una menor incidencia en el medio. En la Península Ibérica hay unas 500.000 hectáreas de dehesas concentradas en Andalucía, Castilla y León, Extremadura, Castilla La Mancha y Madrid. La raza de Lidia es, dentro de las razas autóctonas, por su rusticidad y adaptación, una de las que mejor aprovechan y conservan la dehesa. Las condiciones de cría en grandes fincas (400-500 hectáreas de media), el espacio por cabeza (entre una y seis hectáreas por animal), la movilidad que le da su menor tamaño con respecto a otras razas y su crecimiento en libertad con mínima presencia humana la ha hecho indispensables para el mantenimiento del ecosistema de la dehesa. Con este trabajo pretendemos aplicar una tecnología innovadora como es el GPS-GPRS a la monitorización de la etología del ganado de la raza de Lidia durante todos los periodos de su vida y especialmente en aquellos momentos en los que el animal se ve sometido a diferentes prácticas de manejo. Para ello, se implementará la tecnología de GPS que permite el posicionamiento relativo de un objetivo mediante la captación de la señal de diferentes satélites específicos, lo que proporcionará información precisa sobre: el desplazamiento del ganado en un periodo determinado, las distancias recorridas, el territorio pastoreado, las áreas más querenciosas, su ritmo circadiano, las pautas de comportamiento, etc. Así mismo, el dispositivo incorporará sensores de parámetros biológicos como la temperatura ó el ritmo cardíaco, etc. La implementación de este sistema permitirá, a través del posicionamiento, realizar la óptima gestión de los recursos pastables de la dehesa, permitiendo ahorrar costes en alimentación, infraestructuras y personal, y ofrecer, en un futuro cercano, una atractiva herramienta al ganadero para realizar el control remoto de sus reses

Acumulación de Ag, Cu y Ni en sedimentos en una cuenca semiárida como sub-producto de la mina de oro El Triunfo, Baja California Sur, México

The dispersal of Ag, Cu, and Ni in mine wastes (tailings and ash) was studied from the source of an abandoned gold mine at El Triunfo (Baja California Sur, Mexico) to the adjacent coast of the Pacific Ocean. The highest contamination levels of the studied elements were measured in one sample of the tailings (Ag: 247 mg kg-1; Cu: 1660 mg kg-1; Ni: 111 mg kg-1). Horizontal and vertical distributions of these elements were obtained from the analysis of surface sediments, tailings, a test pit, a sediment core, and dunes. The background levels of these elements were estimated from independent methods. Then, these regional background level calculations were used to determine the normalised enrichment factors (NEFs). Relatively high NEF values (averages of Ag, Cu, and Ni were 24.0, 3.0, and 1.4, respectively) indicated that the area close to the mine waste zone (up to about 18 km from the source area) was moderately to severely polluted. Moderate to null pollution (average NEFs of Ag, Cu, and Ni were 7, 2 and 1, respectively) was interpreted for the area at about 18-49 km from the mine waste zone. Vertical distributions of the elements in sediments of the overbank, the test pit in the mine zone, and the sediment core (at the discharge of the main arroyo Hondo–Las Gallinas–El Carrizal), also revealed enrichment of Ag, Cu, and Ni relative to the surface sediments. This study indicated that historic and contemporary contamination continues to impact the fluvial environment.Se estudió la dispersión de Ag, Cu, y Ni, en desechos mineros (jales y cenizas) desde su origen en la mina de oro abandonada de El Triunfo (Baja California Sur, México) hasta su desembocadura en la costa adyacente al Océano Pacífico. Los mayores niveles de la contaminación de los elementos estudiados se presentan en los jales (Ag: 247 mg kg-1; Cu: 1660 mg kg-1; Ni: 111 mg kg-1). Se obtuvieron distribuciones horizontales y verticales de estos elementos a partir de los análisis de sedimentos superficiales, de deterun jale, de un pozo de ensayo, de un testigo y en las dunas adyacentes a la desembocadura del arroyo. Los niveles de fondo fueron calculados considerando varios métodos independientes. Luego, con estos cálculos de niveles de fondo se determinaron los Factores de Enriquecimiento Normalizados (NEFs). Los valores relativamente altos de NEF (promedios de Ag, Cu and Ni de 24.0, 3.0 y 1.4, respectivamente) indicaron que el área situada cerca de la zona minera (aproximadamente 18 km de los desechos mineros abandonados) se encuentra de moderada a severamente contaminada. Una contaminación moderada a nula (NEFs promedio de Ag, Cu y Ni: 7, 2 y 1, respectivamente) fue determinada en el área comprendida entre los 18 y los 49 km medidos desde el distrito minero. Las distribuciones verticales de los elementos en los sedimentos de los jales y el pozo de ensayo en la zona minera, así como en el testigo analizado en la desembocadura del arroyo principal (Arroyo Hondo – Las Gallinas – El Carrizal), muestran mayor enriquecimiento de Ag, Cu y Ni, que los sedimentos superficiales adyacentes. Este estudio indica que la contaminación histórica y contemporánea está impactando el ambiente fluvial

Anisotropic flow of charged hadrons, pions and (anti-)protons measured at high transverse momentum in Pb-Pb collisions at sNN=2.76\sqrt{s_{\rm NN}}=2.76 TeV

The elliptic, $v_2$, triangular, $v_3$, and quadrangular, $v_4$, azimuthal anisotropic flow coefficients are measured for unidentified charged particles, pions and (anti-)protons in Pb-Pb collisions at $\sqrt{s_{\rm NN}} = 2.76$ TeV with the ALICE detector at the Large Hadron Collider. Results obtained with the event plane and four-particle cumulant methods are reported for the pseudo-rapidity range $|\eta|<0.8$ at different collision centralities and as a function of transverse momentum, $p_{\rm T}$, out to $p_{\rm T}=20$ GeV/$c$. The observed non-zero elliptic and triangular flow depends only weakly on transverse momentum for $p_{\rm T}>8$ GeV/$c$. The small $p_{\rm T}$ dependence of the difference between elliptic flow results obtained from the event plane and four-particle cumulant methods suggests a common origin of flow fluctuations up to $p_{\rm T}=8$ GeV/$c$. The magnitude of the (anti-)proton elliptic and triangular flow is larger than that of pions out to at least $p_{\rm T}=8$ GeV/$c$ indicating that the particle type dependence persists out to high $p_{\rm T}$.Comment: 16 pages, 5 captioned figures, authors from page 11, published version, figures at http://aliceinfo.cern.ch/ArtSubmission/node/186

Centrality dependence of charged particle production at large transverse momentum in Pb-Pb collisions at sNN=2.76\sqrt{s_{\rm{NN}}} = 2.76 TeV

The inclusive transverse momentum ($p_{\rm T}$) distributions of primary charged particles are measured in the pseudo-rapidity range $|\eta|<0.8$ as a function of event centrality in Pb-Pb collisions at $\sqrt{s_{\rm{NN}}}=2.76$ TeV with ALICE at the LHC. The data are presented in the $p_{\rm T}$ range $0.15<p_{\rm T}<50$ GeV/$c$ for nine centrality intervals from 70-80% to 0-5%. The Pb-Pb spectra are presented in terms of the nuclear modification factor $R_{\rm{AA}}$ using a pp reference spectrum measured at the same collision energy. We observe that the suppression of high-$p_{\rm T}$ particles strongly depends on event centrality. In central collisions (0-5%) the yield is most suppressed with $R_{\rm{AA}}\approx0.13$ at $p_{\rm T}=6$-7 GeV/$c$. Above $p_{\rm T}=7$ GeV/$c$, there is a significant rise in the nuclear modification factor, which reaches $R_{\rm{AA}} \approx0.4$ for $p_{\rm T}>30$ GeV/$c$. In peripheral collisions (70-80%), the suppression is weaker with $R_{\rm{AA}} \approx 0.7$ almost independently of $p_{\rm T}$. The measured nuclear modification factors are compared to other measurements and model calculations.Comment: 17 pages, 4 captioned figures, 2 tables, authors from page 12, published version, figures at http://aliceinfo.cern.ch/ArtSubmission/node/284

Measurement of charm production at central rapidity in proton-proton collisions at s=2.76\sqrt{s} = 2.76 TeV

The $p_{\rm T}$-differential production cross sections of the prompt (B feed-down subtracted) charmed mesons D$^0$, D$^+$, and D$^{*+}$ in the rapidity range $|y|<0.5$, and for transverse momentum $1< p_{\rm T} <12$ GeV/$c$, were measured in proton-proton collisions at $\sqrt{s} = 2.76$ TeV with the ALICE detector at the Large Hadron Collider. The analysis exploited the hadronic decays D$^0 \rightarrow$K$\pi$, D$^+ \rightarrow$K$\pi\pi$, D$^{*+} \rightarrow$D$^0\pi$, and their charge conjugates, and was performed on a $L_{\rm int} = 1.1$ nb$^{-1}$ event sample collected in 2011 with a minimum-bias trigger. The total charm production cross section at $\sqrt{s} = 2.76$ TeV and at 7 TeV was evaluated by extrapolating to the full phase space the $p_{\rm T}$-differential production cross sections at $\sqrt{s} = 2.76$ TeV and our previous measurements at $\sqrt{s} = 7$ TeV. The results were compared to existing measurements and to perturbative-QCD calculations. The fraction of cdbar D mesons produced in a vector state was also determined.Comment: 20 pages, 5 captioned figures, 4 tables, authors from page 15, published version, figures at http://aliceinfo.cern.ch/ArtSubmission/node/307

Prospective associations between a priori dietary patterns adherence and kidney function in an elderly Mediterranean population at high cardiovascular risk

Purpose To assess the association between three different a priori dietary patterns adherence (17-item energy reduced-Mediterranean Diet (MedDiet), Trichopoulou-MedDiet and Dietary Approach to Stop Hypertension (DASH)), as well as the Protein Diet Score and kidney function decline after one year of follow-up in elderly individuals with overweight/obesity and metabolic syndrome (MetS). Methods We prospectively analyzed 5675 participants (55-75 years) from the PREDIMED-Plus study. At baseline and at one year, we evaluated the creatinine-based estimated glomerular filtration rate (eGFR) and food-frequency questionnaires-derived dietary scores. Associations between four categories (decrease/maintenance and tertiles of increase) of each dietary pattern and changes in eGFR (ml/min/1.73m(2)) or >= 10% eGFR decline were assessed by fitting multivariable linear or logistic regression models, as appropriate. Results Participants in the highest tertile of increase in 17-item erMedDiet Score showed higher upward changes in eGFR (beta: 1.87 ml/min/1.73m(2); 95% CI: 1.00-2.73) and had lower odds of >= 10% eGFR decline (OR: 0.62; 95% CI: 0.47-0.82) compared to individuals in the decrease/maintenance category, while Trichopoulou-MedDiet and DASH Scores were not associated with any renal outcomes. Those in the highest tertile of increase in Protein Diet Score had greater downward changes in eGFR (beta: - 0.87 ml/min/1.73m(2); 95% CI: - 1.73 to - 0.01) and 32% higher odds of eGFR decline (OR: 1.32; 95% CI: 1.00-1.75). Conclusions Among elderly individuals with overweight/obesity and MetS, only higher upward change in the 17-item erMedDiet score adherence was associated with better kidney function after one year. However, increasing Protein Diet Score appeared to have an adverse impact on kidney health. Trial Registration Number: ISRCTN89898870 (Data of registration: 2014).Open Access funding provided thanks to the CRUE-CSIC agreement with Springer Nature. This work was supported by the official Spanish Institutions for funding scientific biomedical research, CIBER Fisiopatologia de la Obesidad y Nutricion (CIBEROBN) and Instituto de Salud Carlos III (ISCIII), through the Fondo de Investigacion para la Salud (FIS), which is co-funded by the European Regional Development Fund (six coordinated FIS projects leaded by JS-S and JVi, including the following projects: PI13/00673, PI13/00492, PI13/00272, PI13/01123, PI13/00462, PI13/00233, PI13/02184, PI13/00728, PI13/01090, PI13/01056, PI14/01722, PI14/00636, PI14/00618, PI14/00696, PI14/01206, PI14/01919, PI14/00853, PI14/01374, PI14/00972, PI14/00728, PI14/01471, PI16/00473, PI16/00662, PI16/01873, PI16/01094, PI16/00501, PI16/00533, PI16/00381, PI16/00366, PI16/01522, PI16/01120, PI17/00764, PI17/01183, PI17/00855, PI17/01347, PI17/00525, PI17/01827, PI17/00532, PI17/00215, PI17/01441, PI17/00508, PI17/01732, PI17/00926, PI19/00957, PI19/00386, PI19/00309, PI19/01032, PI19/00576, PI19/00017, PI19/01226, PI19/00781, PI19/01560, PI19/01332, PI20/01802, PI20/00138, PI20/01532, PI20/00456, PI20/00339, PI20/00557, PI20/00886, PI20/01158); the Especial Action Project entitled: Implementacion y evaluacion de una intervencion intensiva sobre la actividad fisica Cohorte PREDIMED-Plus grant to JS-S; the European Research Council (Advanced Research Grant 2014-2019; agreement #340918) granted to MAMG.; the Recercaixa (number 2013ACUP00194) grant to JS-S; grants from the Consejeria de Salud de la Junta de Andalucia (PI0458/2013, PS0358/2016, PI0137/2018); the PROMETEO/2017/017 and the PROMETEO 21/2021 grant from the Generalitat Valenciana; the SEMERGEN grant; the Boosting young talent call grant program for the development of IISPV research projects 2019-2021 (Ref.: 2019/IISPV/03 grant to AD-L); the Societat Catalana d'Endocrinologia i Nutricio (SCEN) Clinical-Research Grant 2019 (IPs: JS-S and AD-L). Collaborative Nutrition and/or Obesity Project for Young Researchers 2019 supported by CIBEROBN entitled: Lifestyle Interventions and Chronic Kidney Disease: Inflammation, Oxidative Stress and Metabolomic Profile (LIKIDI study) grant to AD-L. Jordi Salas-Salvado, gratefully acknowledges the financial support by ICREA under the ICREA Academia programme. M.R.-G., is supported by the Ministry of Education of Spain (FPU17/06488). None of the funding sources took part in the design, collection, analysis, interpretation of the data, or writing the report, or in the decision to submit the manuscript for publication