Search results for "RECESS"
showing 10 items of 379 documents
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.
2022
Abstract Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Clinical manifestations are due to mutations in genes mostly involved in skin barrier formation. Based on clinical presentation, CI is distinguished in non-syndromic and syndromic forms. To date, mutations of more than 50 genes have been associated to different types of CI. Cases presentation We report on three Italian unrelated newborns showing clinical signs compatible with different forms of CI of variable severity, namely Harlequin…
Localization of the giant axonal neuropathy gene to chromosome 16q24
1998
Giant axonal neuropathy (GAN) is a degenerative disorder of the peripheral nerves that is inherited as an autosomal recessive trait, presenting in early childhood and progressing to death, usually by late adolescence. Diagnosis is made by peripheral nerve biopsy, in which a striking pathological finding is seen--fibers distorted by giant axonal swellings filled with densely packed bundles of neurofilaments (the primary intermediate filament in neurons), with segregation of other axoplasmic organelles. In addition to disorganized neurofilaments in nerve, disorganization of other members of the intermediate filament family of proteins is seen in other tissues; this implies that the underlying…
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation
2015
no abstract available
Testing isotropy of the universe using the Ramsey resonance technique on ultracold neutron spins
2010
Physics at the Planck scale could be revealed by looking for tiny violations of fundamental symmetries in low energy experiments. In 2008, a sensitive test of the isotropy of the Universe using has been performed with stored ultracold neutrons (UCN), this is the first clock-comparison experiment performed with free neutrons. During several days we monitored the Larmor frequency of neutron spins in a weak magnetic field using the Ramsey resonance technique. An non-zero cosmic axial field, violating rotational symmetry, would induce a daily variation of the precession frequency. Our null result constitutes one of the most stringent tests of Lorentz invariance to date.
Constraining interactions mediated by axion-like particles with ultracold neutrons
2015
We report a new limit on a possible short range spin-dependent interaction from the precise measurement of the ratio of Larmor precession frequencies of stored ultracold neutrons and Hg199 atoms confined in the same volume. The measurement was performed in a ~1μT vertical magnetic holding field with the apparatus searching for a permanent electric dipole moment of the neutron at the Paul Scherrer Institute. A possible coupling between freely precessing polarized neutron spins and unpolarized nucleons of the wall material can be investigated by searching for a tiny change of the precession frequencies of neutron and mercury spins. Such a frequency change can be interpreted as a consequence o…
Gravitational depolarization of ultracold neutrons : comparison with data
2015
We compare the expected effects of so-called gravitationally enhanced depolarization of ultracold neutrons to measurements carried out in a spin-precession chamber exposed to a variety of vertical magnetic-field gradients. In particular, we have investigated the dependence upon these field gradients of spin depolarization rates and also of shifts in the measured neutron Larmor precession frequency. We find excellent qualitative agreement, with gravitationally enhanced depolarization accounting for several previously unexplained features in the data.
Measurement of the neutron electric form factor
2003
Abstract The neutron electric form factor GE,n has been measured at three different four-momentum transfer in a D(|e|→, e′|e|→)p experiment. Neutronwere detected in a recoil 0 polarimeter, using a spin precession method. We present the experiment and the status of data analysis.
Therapeutic algorithms for chronic hepatitis C in the DAA era during the current economic crisis: whom to treat? How to treat? When to treat?
2012
The advent of triple therapy (TT) with first-generation protease inhibitors boceprevir (BOC) and telaprevir (TVR) in addition to pegylated interferon and ribavirin resulted in a significant gain in terms of sustained virological response (SVR) when treating naive or previous treated patients with genotype 1 (G1) chronic hepatitis C (CHC). This gain is partly balanced by the increased complexity of treatment and by the raised costs and risks of therapy, making necessary to optimize the indication to TT. Specifically, the identification of patient needing to TT over DT, the choice of the more correct therapeutic approach according to baseline and on treatment SVR predictors, and the timing of…
Effects of external imbalances on GDP recovery patterns
2021
Abstract A decade after the beginning of the Great Recession, flow external imbalances, measured by the current account (CA) have narrowed markedly. However, stock or net foreign assets (NFA) imbalances have kept increasing and have created challenges for future macroeconomic and financial stability. To date, early warning systems (scoreboards) have focused more on flow than on stock variables. To approach this problem, in this paper we analyze expansions using two complementary sets of indicators proposed by Harding and Pagan (2002) and Gadea et al. (2017) for the period 1950–2016. After controlling for a large set of explanatory variables, we find that the effect of CA imbalances is limit…
Prospects for the return of Spanish scientists in the United Kingdom during the Great Recession
2021
The economic crisis that began in 2008 caused an increase in skilled Spanish emigration, including scientists, many of whom settled in the United Kingdom. The objective of this article is to analys...