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

Rethinking Supply Chain Management in a Post‐Growth Era

Supply chain management is grounded on the assumption that endless economic growth is compatible with environmental and social sustainability. Yet scholars from ecological economics question this assumption due to ever increasing evidence showing how hard it is to decouple growth from negative environmental and social externalities. In response, pressure from social movements is mounting, and the agendas of several countries already consider alternatives to growth. Therefore, this article presents a critical thought experiment for the supply chain management discipline: What are the implications of moving from the current endless growth paradigm to a post‐growth paradigm for businesses and their supply chains? Using the umbrella term “post‐growth,” this article identifies three key post‐growth principles—(i) socio‐ecological wellbeing, (ii) selective downscaling, and (iii) systems thinking—and then examines their implications for supply chain management research and practice

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 $\bar{K}N$ system at threshold is a sensitive testing ground for low energy QCD, especially for the explicit chiral symmetry breaking. Therefore, we have measured the $K$-series x rays of kaonic hydrogen atoms at the DA$\Phi$NE 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 $1s$ 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 $\epsilon_{1s} = -283 \pm 36 \pm 6 {(syst)}$ eV and $\Gamma_{1s} = 541 \pm 89 {(stat)} \pm 22 {(syst)}$ eV, respectively. The new values will provide vital constraints on the theoretical description of the low-energy $\bar{K}N$ 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 $E_n$-algebras. We give an account of homology theory for manifolds (and spaces), which give invariant of manifolds but also invariant of $E_n$-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