537 research outputs found
Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome
Whole exome sequencing detected novel likely pathogenic variants in LRP2 gene in 2 patients presenting with hearing and vision loss, and the Dent disease (DD) classical renal phenotype, that is, low molecular weight proteinuria (LMWP), hypercalciuria and nephrocalcinosis/nephrolithiasis. We propose that a subset of patients presenting as DD may represent unrecognized cases or mild forms of Donnai-Barrow/facio-oculo-acustico-renal (DB/FOAR) syndrome or be on the phenotypic continuum between the 2 conditions
Functional characterisation and subcellular localisation of HCN1 channels in rabbit retinal rod photoreceptors
Gating of voltage-dependent conductances in retinal photoreceptors is the first step of a process leading to the enhancement of the temporal performance of the visual system. The molecular components underlying voltage-dependent gating in rods are presently poorly defined. In the present work we have investigated the isoform composition and the functional characteristics of hyperpolarisation-activated cyclic nucleotide-gated channels (HCN) in rabbit rods. Using immunocytochemistry we show the expression in the inner segment and cell body of the isoform I (HCN1). Electrophysiological investigations show that hyperpolarisation-activated currents (I-h) can be measured only from the cell regions where HCN1 is expressed. Half-activation voltage (-75.0 +/- 0.3 mV) and kinetics (t(nu2) of 101 +/- 8 ins at -110 mV and 20degreesC) of the I-h in rods are similar to those of the macroscopic current carried by homomeric rabbit HCN1 channels expressed in HEK 293 cells. The homomeric nature of HCN1 channels in rods is compatible with the observation that cAMP induces a small shift (2.3 +/- 0.8 mV) in the half-activation voltage of I-h. In addition, the observation that within the physiological range of membrane potentials, cAMP does not significantly affect the gain of the current-to-voltage conversion, may reflect the need to protect the first step in the processing of visual signals from changes in cAMP turnover
First measurement of kaonic helium-3 X-rays
The first observation of the kaonic 3He 3d - 2p transition was made using
slow K- mesons stopped in a gaseous 3He target. The kaonic atom X-rays were
detected with large-area silicon drift detectors using the timing information
of the K+K- pairs of phi-meson decays produced by the DAFNE e+e- collider. The
strong interaction shift of the kaonic 3He 2p state was determined to be -2+-2
(stat)+-4 (syst) eV.Comment: Accepted for publication in Phys. Lett.
Grassroots Agency: Participation and Conflict in Buenos Aires Shantytowns seen through the Pilot Plan for Villa 7 (1971–1975)
open access articleIn 1971, after more than a decade of national and municipal policies aimed at the top-down removal of shantytowns, the Buenos Aires City Council approved the Plan Piloto para la Relocalización de Villa 7 (Pilot Plan for the Relocation of Shantytown 7; 1971–1975, referred to as the Pilot Plan hereinafter). This particular plan, which resulted in the construction of the housing complex, Barrio Justo Suárez, endures in the collective memory of Argentines as a landmark project regarding grassroots participation in state housing initiatives addressed at shantytowns. Emerging from a context of a housing shortage for the growing urban poor and intense popular mobilizations during the transition to democracy, the authors of the Pilot Plan sought to empower shantytown residents in novel ways by: 1) maintaining the shantytown’s location as opposed to eradication schemes that relocated the residents elsewhere, 2) formally employing some of the residents for the stage of construction, as opposed to “self-help” housing projects in which the residents contributed with unpaid labor, and 3) including them in the urban and architectural design of the of the new housing.
This paper will examine the context in which the Pilot Plan was conceived of as a way of re-assessing the roles of the state, the user, and housing-related professionals, often seen as antagonistic. The paper argues that residents’ fair participation and state intervention in housing schemes are not necessarily incompatible, and can function in specific social and political contexts through multiactor proposals backed by a political will that prioritizes grassroots agency
A New Measurement of Kaonic Hydrogen X rays
The system at threshold is a sensitive testing ground for low
energy QCD, especially for the explicit chiral symmetry breaking. Therefore, we
have measured the -series x rays of kaonic hydrogen atoms at the DANE
electron-positron collider of Laboratori Nazionali di Frascati, and have
determined the most precise values of the strong-interaction energy-level shift
and width of the atomic state. As x-ray detectors, we used large-area
silicon drift detectors having excellent energy and timing resolution, which
were developed especially for the SIDDHARTA experiment. The shift and width
were determined to be eV and
eV, respectively. The new
values will provide vital constraints on the theoretical description of the
low-energy interaction.Comment: 5 figures, submitted to Physics Letters
A framework for the integration of green and lean six sigma for superior sustainability performance
Evidence suggests that Lean, Six Sigma and Green approaches make a positive contribution to the economic, social and environmental (i.e. sustainability) performance of organizations. However, evidence also suggests that organizations have found their integration and implementation challenging. The purpose of this research is therefore to present a framework that methodically guides companies through a five stages and sixteen steps process to effectively integrate and implement the Green, Lean and Six Sigma approaches to improve their sustainability performance. To achieve this, a critical review of the existing literature in the subject area was conducted to build a research gap, and subsequently develop the methodological framework proposed. The paper presents the results from the application of the proposed framework in four organizations with different sizes and operating in a diverse range of industries. The results showed that the integration of Lean Six Sigma and Green helped the organizations to averagely reduce their resources consumption from 20% to 40% and minimize the cost of energy and mass streams by 7-12%. The application of the framework should be gradual, the companies should assess their weaknesses and strengths, set priorities, and identify goals for successful implementation. This paper is one of the very first researches that presents a framework to integrate Green and Lean Six Sigma at a factory level, and hence offers the potential to be expanded to multiple factories or even supply chains
Notes on factorization algebras, factorization homology and applications
These notes are an expanded version of two series of lectures given at the
winter school in mathematical physics at les Houches and at the Vietnamese
Institute for Mathematical Sciences. They are an introduction to factorization
algebras, factorization homology and some of their applications, notably for
studying -algebras. We give an account of homology theory for manifolds
(and spaces), which give invariant of manifolds but also invariant of
-algebras. We particularly emphasize the point of view of factorization
algebras (a structure originating from quantum field theory) which plays, with
respect to homology theory for manifolds, the role of sheaves with respect to
singular cohomology. We mention some applications to the study of mapping
spaces and study several examples, including some over stratified spaces.Comment: 122 pages. A few examples adde
Low-energy kaon-nucleon/nuclei interaction studies at DAΦNE (SIDDHARTA and AMADEUS experiments)
The DAΦNE electron-positron collider at the Laboratori Nazionali di Frascati of INFN has made available a unique-quality low-energy negative-kaons “beam”. The SIDDHARTA experiment used this beam to perform unprecedented
precision measurements on kaonic atoms, while the AMADEUS experiment plans to perform in the coming years precision measurements on kaon-nuclei interactions at low-energies, in particular to study the kaonic nuclei. The two experiments are briefly presented in this paper
Functional and radiological outcomes after bridging therapy versus direct thrombectomy in stroke patients with unknown onset: Bridging therapy versus direct thrombectomy in unknown onset stroke patients with 10-point ASPECTS
BACKGROUND AND PURPOSE: The aim was to assess functional and radiological outcomes after bridging therapy (intravenous thrombolysis plus mechanical thrombectomy) versus direct mechanical thrombectomy (MT) in unknown onset stroke patients. METHODS: A cohort study was conducted on prospectively collected data from unknown onset stroke patients who received endovascular procedures at ≤6 h from symptom recognition or awakening time. RESULTS: Of the 349 patients with a 10-point Alberta Stroke Program Early Computed Tomography Score (ASPECTS), 248 received bridging and 101 received direct MT. Of the 134 patients with 6-9-point ASPECTS, 123 received bridging and 111 received direct MT. Each patient treated with bridging was propensity score matched with a patient treated with direct MT for age, sex, study period, pre-stroke disability, stroke severity, type of stroke onset, symptom recognition to groin time (or awakening to groin time), ASPECTS and procedure time. In the two matched groups with 10-point ASPECTS (n = 73 vs. n = 73), bridging was associated with higher rates of excellent outcome (46.6% vs. 28.8%; odds ratio 2.302, 95% confidence interval 1.010-5.244) and successful recanalization (83.6% vs. 63%; odds ratio 3.028, 95% confidence interval 1.369-6.693) compared with direct MT; no significant association was found between bridging and direct MT with regard to rate of symptomatic intracerebral hemorrhage (0% vs. 1.4%). In the two matched groups with 6-9-point ASPECTS (n = 45 vs. n = 45), no significant associations were found between bridging and direct MT with regard to rates of excellent functional outcome (44.4% vs. 31.1%), successful recanalization (73.3% vs. 76.5%) and symptomatic intracerebral hemorrhage (0% vs. 0%). CONCLUSIONS: Bridging at ≤ 6 h of symptom recognition or awakening time was associated with better functional and radiological outcomes in unknown onset stroke patients with 10-point ASPECTS
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