276 research outputs found
WOMEN WITH LYMPANGIOLEIOMYOMATOSIS: FROM RESPIRATORY FUNCTION TO SERUM BIOMARKERS ANALYSIS. PHENOTYPING OF A RARE DISEASE.
Lymphangioleiomyiomatosis (LAM) is a rare progressive cystic lung disease that affects almost exclusively women. LAM can occur sporadically, or can be associated with tuberous sclerosis complex (TSC); a rare disorder with multiorgan involvement effecting the brain, kidneys, heart, liver, skin and eyes and is associated with intellectual disability, epilepsy and autism spectrum disorders. Dr.Terraneo PhD project was developed with the aim to expand clinical knowledge about diagnosis and follow up as well as to analyze pathogenic aspect of the development of the disease.
As a first step of the PhD project, the association between LAM and other features of TSC (e.g. demography, extrapulmonary manifestations, genetic mutations..) was investigated as well as the role of pulmonary function tests (PFTs) for LAM diagnosis. Our results demonstrate that age, but not PFTs, is independently associated with LAM development in patients with TSC. PFTs, even if indicated to assess impairment in lung function, result feasible in a limited number of patients due to cognitive impairment, and are not significantly useful for LAM diagnosis in women with TSC. Successively, the case of a patients with coexistence of three rare diseases (autoimmune hepatitis/primary biliary cirrhosis overlap syndrome, lymphangioleiomyomatosis/tuberous sclerosis complex (LAM-TSC), and sarcoidosis) was described. We speculated that the dysregulation of the pathway involving mTOR and MAPK and their interaction might play a role in the pathogenesis of diseases other than TSC, including sarcoidosis.
In the last part of PhD project, the serum levels of VEGF-D, VEGF-C, MMP-2 and MMP-7 were assessed in a cohort of patients affected with S-LAM and TSC with and without LAM.
Our results showed that VEGF-D, MMP-2 and MMP7 were higher in patients with LAM than in patients without. VEGF-D was confirmed as the biomarkers with the highest accuracy for LAM diagnosis. MMP-2 and MMP-7 could be a promising biomarker of LAM
Can quantum fractal fluctuations be observed in an atom-optics kicked rotor experiment?
We investigate the parametric fluctuations in the quantum survival
probability of an open version of the delta-kicked rotor model in the deep
quantum regime. Spectral arguments [Guarneri I and Terraneo M 2001 Phys. Rev. E
vol. 65 015203(R)] predict the existence of parametric fractal fluctuations
owing to the strong dynamical localisation of the eigenstates of the kicked
rotor. We discuss the possibility of observing such dynamically-induced
fractality in the quantum survival probability as a function of the kicking
period for the atom-optics realisation of the kicked rotor. The influence of
the atoms' initial momentum distribution is studied as well as the dependence
of the expected fractal dimension on finite-size effects of the experiment,
such as finite detection windows and short measurement times. Our results show
that clear signatures of fractality could be observed in experiments with cold
atoms subjected to periodically flashed optical lattices, which offer an
excellent control on interaction times and the initial atomic ensemble.Comment: 18 pp, 7 figs., 1 tabl
Orthogonal halogen and hydrogen bonds involving a peptide bond model
The peptide bond model N-methylacetamide self-assembles with a range of dihalotetrafluorobenzenes forming co-crystals that all show the occurrence of orthogonal hydrogen and halogen bonds
Dynamics of Anderson localization in open 3D media
We develop a self-consistent theoretical approach to the dynamics of Anderson
localization in open three-dimensional (3D) disordered media. The approach
allows us to study time-dependent transmission and reflection, and the
distribution of decay rates of quasi-modes of 3D disordered slabs near the
Anderson mobility edge.Comment: 4 pages, 4 figure
Dynamical localization, measurements and quantum computing
We study numerically the effects of measurements on dynamical localization in
the kicked rotator model simulated on a quantum computer. Contrary to the
previous studies, which showed that measurements induce a diffusive probability
spreading, our results demonstrate that localization can be preserved for
repeated single-qubit measurements. We detect a transition from a localized to
a delocalized phase, depending on the system parameters and on the choice of
the measured qubit.Comment: 4 pages, 4 figures, research at Quantware MIPS Center
http://www.quantware.ups-tlse.f
Dynamic Characterization of Crystalline Supramolecular Rotors Assembled through Halogen Bonding
A modular molecular kit for the preparation of crystalline molecular rotors was devised from a set of stators and rotators to gain simple access to a large number of structures with different dynamic performance and physical properties. In this work, we have accomplished this with crystalline molecular rotors self-assembled by halogen bonding of diazabicyclo[2.2.2]octane, acting as a rotator, and a set of five fluorine-substituted iodobenzenes that take the role of the stator. Using variableerature 1H T1 spin-lattice relaxation measurements, we have shown that all structures display ultrafast Brownian rotation with activation energies of 2.4-4.9 kcal/mol and pre-exponential factors of the order of (1-9) Ă— 1012 s-1. Line shape analysis of quadrupolar echo 2H NMR measurements in selected examples indicated rotational trajectories consistent with the 3-fold or 6-fold symmetric potential of the rotator
Long-Term Outcome of Repetitive Transcranial Magnetic Stimulation in a Large Cohort of Patients With Cocaine-Use Disorder: An Observational Study
Background: Cocaine is a psychostimulant drug used as performance enhancer throughout history. The prolonged use of cocaine is associated with addiction and a broad range of cognitive deficits. Currently, there are no medications proven to be effective for cocaine-use disorder (CocUD). Previous preliminary clinical work suggests some benefit from repetitive transcranial magnetic stimulation (rTMS) stimulating the prefrontal cortex (PFC), involved in inhibitory cognitive control, decision-making and attention. All published studies to date have been limited by small sample sizes and short follow-up times. Methods: This is a retrospective observational study of 284 outpatients (of whom 268 were men) meeting DSM-5 criteria for CocUD. At treatment entry, most were using cocaine every day or several times per week. All patients underwent 3 months of rTMS and were followed for up to 2 years, 8 months. Self-report, reports by family or significant others and regular urine screens were used to assess drug use. Results: Median time to the first lapse (resumption of cocaine use) since the beginning of treatment was 91 days. For most patients, TMS was re-administered weekly, then monthly, throughout follow-up. The decrease in frequency of rTMS sessions was not accompanied by an increase in lapses to cocaine use. Mean frequency of cocaine use was <1·0 day/month (median 0), while serious rTMS-related adverse events were infrequent, consistent with published reports from smaller studies. Conclusions: This is the first follow-up study to show that rTMS treatment is accompanied by long-lasting reductions in cocaine use in a large cohort
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