Caractéristiques cliniques et parcours médical des patients atteints de la maladie de Rendu-Osler suivis au CHUV

Objectifs : Les objectifs de ce travail ont consisté à décrire les caractéristiques cliniques et la prise en charge des patients atteints de maladie de Rendu-Osler (MRO) évalués par le réseau multidisciplinaire du CHUV, le parcours médical de ces patients (événements cliniques, informations reçues, examens, traitements) et comparer la prise en charge de patients avant et après la mise en place du réseau multidisciplinaire Rendu-Osler. Méthodes : Les critères d'inclusion ont été un diagnostic de MRO « certain » (3 critères de Curaçao) ou « possible » (2 critères de Curaçao). Le critère d'exclusion était un diagnostic « improbable » de MRO (1 critère de Curaçao). L'identification des patients a été réalisée par une recherche dans les bases de données informatisées du CHUV. Les données ont été recueillies de manière rétrospective par questionnaire. Les variables étudiées ont concerné les différentes manifestations cliniques, les examens et traitements entrepris ainsi que les informations fournies aux patients. Résultats : 56 patients avec MRO ont été identifiés, dont 40/56 (71%) patients ont eu un premier contact avec le CHUV avant 2011 et 16/56 (29%) patients sont entrés au CHUV après 2011. La prévalence des principales manifestations cliniques était : épistaxis 91%, télangiectasies cutanéo-muqueuses 90%, malformations artério-veineuses (MAVs) 70%, dont MAVs pulmonaires 46%, MAVs hépatiques 46%, MAVs digestives 43% et MAVs neurologiques 15%. Un bilan de base complet (formule sanguine, ferritine, échocardiographie, scanner thoracique, échographie ou IRM hépatique) à 2 ans de l'entrée au CHUV a été réalisé chez 10% des patients avant 2011 et 44% des patients après 2011 (p=0.008). L'information aux patients sur les modalités de transmission de la maladie a augmenté de 25% à 75% (p<0.001), et la pratique du diagnostic génétique de 20% à 69% (p=0.001) après 2011. Conclusions : La prévalence des principales manifestations cliniques était similaire aux données de la littérature. Malgré le fait que la majorité des patients pris en charge au CHUV n'a pas encore bénéficié d'un bilan de dépistage ni d'un suivi approprié, une amélioration significative a été mise en évidence depuis la mise en place du réseau multidisciplinaire en 2011

Fermion masses in SUSY SO(10) with type II seesaw: a non-minimal predictive scenario

A predictive framework for fermion masses and mixing is given by the supersymmetric SO(10) model with one 10, one bar126, one 126 and one 210 Higgs representations, and type II seesaw dominating the neutrino mass matrix. We investigate the origin of the tension between this model and lepton mixing data and refine previous numerical analyses. We discuss an extension of the minimal model that includes one 120 Higgs chiral superfield representation. This exhausts the possible renormalizable contributions to the Yukawa sector. In spite of the increase in the number of parameters the predictivity of the minimal setting is not spoiled. We argue that the contributions to fermion masses due to the doublet components of 120 can be naturally small compared to those of 10 and 126, thus acting as a perturbation in the fermion mass generation. The antisymmetric nature of the 120 Yukawa coupling affects at leading order the determination of the mixing angles and it allows to remove the inconsistencies between predictions and data on the neutrino parameters. An improvement in the experimental bound on |Ue3| can tell this scenario from the minimal model.Comment: 11 pages, 3 figures; Note and references added on new KamLAND dat

Integral Foliated Simplicial Volume of Aspherical Manifolds

We consider the relation between simplicial volume and two of its variants: the stable integral simplicial volume and the integral foliated simplicial volume. The definition of the latter depends on a choice of a measure preserving action of the fundamental group on a probability space. We show that integral foliated simplicial volume is monotone with respect to weak containment of measure preserving actions and yields upper bounds on (integral) homology growth. Using ergodic theory we prove that simplicial volume, integral foliated simplicial volume and stable integral simplicial volume coincide for closed hyperbolic 3-manifolds and closed aspherical manifolds with amenable residually finite fundamental group (being equal to zero in the latter case). However, we show that integral foliated simplicial volume and the classical simplicial volume do not coincide for hyperbolic manifolds of dimension at least 4

The c-terminal extension of a hybrid immunoglobulin A/G heavy chain is responsible for its Golgi-mediated sorting to the vacuole

We have assessed the ability of the plant secretory pathway to handle the expression of complex heterologous proteins by investigating the fate of a hybrid immunoglobulin A/G in tobacco cells. Although plant cells can express large amounts of the antibody, a relevant proportion is normally lost to vacuolar sorting and degradation. Here we show that the synthesis of high amounts of IgA/G does not impose stress on the plant secretory pathway. Plant cells can assemble antibody chains with high efficiency and vacuolar transport occurs only after the assembled immunoglobulins have traveled through the Golgi complex. We prove that vacuolar delivery of IgA/G depends on the presence of a cryptic sorting signal in the tailpiece of the IgA/G heavy chain. We also show that unassembled light chains are efficiently secreted as monomers by the plant secretory pathway

A constant dark matter halo surface density in galaxies

We confirm and extend the recent finding that the central surface density r_0*rho_0 galaxy dark matter halos, where r_0 and rho_0 are the halo core radius and central density, is nearly constant and independent of galaxy luminosity. Based on the co-added rotation curves of about 1000 spiral galaxies, mass models of individual dwarf irregular and spiral galaxies of late and early types with high-quality rotation curves and, galaxy-galaxy weak lensing signals from a sample of spiral and elliptical galaxies, we find that log(r_0*rho_0) = 2.15 +- 0.2, in units of log(Msol/pc^2). We also show that the observed kinematics of Local Group dwarf spheroidal galaxies are consistent with this value. Our results are obtained for galactic systems spanning over 14 magnitudes, belonging to different Hubble Types, and whose mass profiles have been determined by several independent methods. In the same objects, the approximate constancy of rho_0*r_0 is in sharp contrast to the systematical variations, by several orders of magnitude, of galaxy properties, including rho_0 and central stellar surface density.Comment: Accepted for publication in MNRAS. 9 pages, 4 figure

Variable fault tip propagation rates affected by near-surface lithology and implications for fault displacement hazard assessment

The fabric of reverse fault zones close to the surface is usually partitioned in between a narrow discrete rupture zone and a more distributed one, where folding is predominant. This makes quite challenging the adoption of proper setbacks in surface rupture hazard studies for critical facilities or microzoning. Some of the parameters controlling fault zone fabric are related to mechanics of near-surface geology (lithology, overburden thickness, cohesion and water content) whose interaction is complex and only partially understood. Nevertheless, these can be seldom measured or derived. Kinematic models, conversely, express such an interaction of complex variables as simple synthetic parameters, such as the amount of upward propagation of the fault tip for unit of slip, usually referred to as the P/S ratio (Propagation on Slip). Here, we discuss results on the trishear kinematic inverse modeling of a contractional fault propagation fold at Monte Netto Hill (Capriano del Colle, N. Italy), observing a two-stage fault and fold growth evolution, marked by a significant shift in the P/S parameter. At this site, exceptional sequence of exposures due to ca. 10 years of quarry excavations allowed to obtain a series of cross-sections across the fault zone. We use this detailed, high-resolution, example as a natural \u201canalogue\u201d for more general, large-scale surface ruptures involving a thick alluvial cover, a very common setting for the siting of critical facilities. During the early stage of displacement, the fault cut through clast-supported fluvial gravels with a high propagation rate (P/S\u202f=\u202f7) and a discrete rupture width. Then, during the latest movements of the thrust, fault tip propagation slowed down to P/S\u202f 48\u202f2.9, as the fault started cutting through several stacked bodies of clays and silty clays, pedogenized aeolian silts and overbank deposits, causing a pronounced folding of the layers over a wider deformation zone. These results strongly suggest that lithological changes in the underlying shallow stratigraphy, common in an alluvial plain depositional setting, would significantly affect the potential for surface faulting across the same tectonic structure, with relevant implications in the fault displacement hazard assessment

Cow-Calf Production on Perennial Pastures in the Central Semi-Arid Region of Argentina

In cow-calf production systems in San Luis, the annual crops are heavily used (eastern region) or the natural pastures are over-used (western region). Both cases constitute unsustainable systems. In the present study, the possibility of structuring an efficient and stable stockbreeding agroecosystem based exclusively on perennial summer grasses was tested. The objectives were: 1) to test a cow-calf production system based on perennial pastures: Digitaria (Digitaria eriantha Steudel subsp. eriantha cv Irene), without protein supplement during winter, and 2) to determine the physical and economical efficiency of the production system and sustainability of such indicators in the short-term (6 years of performance)

Strategy for the development of a new stick formula without microplastics

Plastic is a synthetic, malleable, and durable material that has been used for various applications since its invention in the late 19th century. During its very long-time degradation process, mechanical and/or photochemical processes fragment plastic into increasingly smaller fragments called microplastics (MPs). In the cosmetic field, MPs are directly added to many products for various functions, including to exploit their exfoliating and structuring power. Unfortunately, it has been realized that MPs are not retained in purification plants and therefore end up in the aquatic environment causing a high problem of environmental pollution. Polyethene (PE) is the most widely used MP in cosmetics due to its use as a structuring agent, to provide consistency to formulations and as a key ingredient in lipsticks and mascaras. Given the limitations imposed by regulations and the growing demand from consumers for chemical-free and eco-friendly products, the common synthetic and petroleum-based waxes used in lipstick formulations, such as PE, must necessarily be replaced by natural waxes of plant origin. In this paper we report the development of a chemical-free and eco-friendly cosmetic stick. To achieve the goal, it was necessary to study the compatibility of the ABWAX® Revowax, natural alternative to PE, with oils and colours to predict the behaviour of these structuring waxes in more complex systems. Through a systematic comparative study, the two waxes showed similar thermal characteristics and showed similar penetration curves, presenting overall comparable performance in the MP-free finished product. We can therefore consider ABWAX® Revowax natural wax a valid alternative to PE