Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy

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Role of non-Markovianity and backflow of information in the speed of quantum evolution

We consider a two-level open quantum system undergoing pure dephasing, dissipative, or multiply decohering dynamics and show that whenever the dynamics is non-Markovian, the initial speed of evolution is a monotonic function of the relevant physical parameter driving the transition between the Markovian and non-Markovian behavior of the dynamics. In particular, within the considered models, a speed increase can only be observed in the presence of backflow of information from the environment to the system

Robustness of coherence: an operational and observable measure of quantum coherence

Quantifying coherence is an essential endeavour for both quantum foundations and quantum technologies. Here the robustness of coherence is defined and proven a full monotone in the context of the recently introduced resource theories of quantum coherence. The measure is shown to be observable, as it can be recast as the expectation value of a coherence witness operator for any quantum state. The robustness of coherence is evaluated analytically on relevant classes of states, and an efficient semidefinite program that computes it on general states is given. An operational interpretation is finally provided: the robustness of coherence quantifies the advantage enabled by a quantum state in a phase discrimination task

Frozen quantum coherence

We analyze under which dynamical conditions the coherence of an open quantum system is totally unaffected by noise. For a single qubit, specific measures of coherence are found to freeze under different conditions, with no general agreement between them. Conversely, for an N-qubit system with even N, we identify universal conditions in terms of initial states and local incoherent channels such that all bona fide distance-based coherence monotones are left invariant during the entire evolution. This finding also provides an insightful physical interpretation for the freezing phenomenon of quantum correlations beyond entanglement. We further obtain analytical results for distance-based measures of coherence in two-qubit states with maximally mixed marginals

Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease.

Fabry's disease is an X-linked lysosomal storage disease caused by a deficiency of alpha-galactosidase that results in an accumulation of neutral glycosphingolipids throughout the body, including the cardiovascular system. Fabry cardiomyopathy, characterized by progressive severe concentric left ventricular (LV) hypertrophy, is very frequent and is the most important cause of death in affected patients. Enzyme replacement therapy (ERT) allows a specific treatment for this disease, however, there are very few data on the effectiveness of therapy on cardiac involvement. Nine patients with Fabry cardiac disease were studied on basal condition and after 6 and 12 months of treatment with algasidase beta (Fabrazyme). A complete clinical, electrocardiographic and echocardiographic evaluation was performed in all patients. Interpretable Doppler recordings of transmitral flow and pulmonary flow velocity curves were also acquired. At baseline, the patients with Fabry's disease had increased LV septum and posterior wall thickness, normal LV fractional shortening, LV ejection fraction, normal Doppler parameters of mitral inflow but a duration of pulmonary vein flow velocity wave exceeding that of the mitral wave at atrial systole. ERT did not affect heart rate and arterial pressure. LV internal diameters did not change, there was a slight but not significant decrease in the LV posterior wall thickening and a progressive decrease in the interventricular septum thickening (p < 0.025) and in LV mass (p < 0.001) The difference in duration between pulmonary vein flow velocity wave and mitral wave at atrial systole significantly decreased (p < 0.001). These results suggest that ERT in patients with Fabry cardiomyopathy is able to reduce the LV mass and ameliorate the LV stiffness

Endocrine dysfunction in patients with Fabry disease

BACKGROUND: Fabry disease (FD) is a genetic disorder caused by lysosomal alpha-galactosidase-A deficiency and is characterized by the systemic accumulation of globotriaosylceramide. All endocrine glands are susceptible to globotriaosylceramide accumulation because of their high vascularization and low cellular proliferation rate. Nevertheless, this endocrine system has never been investigated in detail. OBJECTIVE: We aimed to investigate the function and morphology of the endocrine glands in FD. PATIENTS: The thyroid, gonadal, adrenal, and GH/IGF-I axes were evaluated in 18 FD patients (nine females and nine males, aged 21-64 yr) and 18 sex- and age-matched healthy subjects. STUDY DESIGN: We conducted an observational, analytical, open, prospective study. INTERVENTIONS: Ten of the 18 patients received enzyme replacement therapy (ERT) with recombinant human alpha-galactosidase-A (agalsidase beta) at a dose of 1 mg/kg body weight every 2 wk. RESULTS: FD patients had higher baseline TSH levels than controls (P &lt; 0.01). Three subjects were diagnosed with an early stage of subclinical primary hypothyroidism associated with negative antithyroid antibodies. A history of menses abnormalities, miscarriage, or assisted delivery was found in 89% of FD women. Asthenozoospermia, oligozoospermia, or both were found in all FD men through seminal fluid analysis. FD patients had significantly higher circulating ACTH and lower cortisol levels than controls (P &lt; 0.05). In patients under ERT, a suboptimal cortisol response to the 250-microg ACTH test was found in 10%, and the ACTH-stimulated cortisol peak was significantly correlated to the health status profile (P &lt; 0.05). CONCLUSION: A variety of latent endocrine dysfunctions, including life-threatening conditions, occur in patients with FD. Endocrine dysfunctions are also present in patients already receiving ERT and are in part related to their persistent poor quality of life. An endocrine work-up should be recommended in all FD patients. Adequate monitoring and hormonal therapy, when required, have to be performed in cases of subclinical endocrine dysfunction to avoid life-threatening events

Frozen and Invariant Quantum Discord under Local Dephasing Noise

In this chapter, we intend to explore and review some remarkable dynamical properties of quantum discord under various different open quantum system models. Specifically, our discussion will include several concepts connected to the phenomena of time invariant and frozen quantum discord. Furthermore, we will elaborate on the relation of these two phenomena to the non-Markovian features of the open system dynamics and to the usage of dynamical decoupling protocols.Comment: 29 pages, 8 figure