Convergence of the one-dimensional Cahn-Hilliard equation

We consider the Cahn-Hilliard equation in one space dimension with scaling a small parameter \epsilon and a non-convex potential W. In the limit \espilon \to 0, under the assumption that the initial data are energetically well-prepared, we show the convergence to a Stefan problem. The proof is based on variational methods and exploits the gradient flow structure of the Cahn-Hilliard equation.Comment: 23 page

Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation

We report a BIN1-related CNM family with unusual clinical phenotype. The proband, a 56-year-old man suffered of lower limbs myalgia since the age of 52. Clinical examination showed short stature, mild symmetric eyelid ptosis without ophthalmoplegia, scapular winging and Achilles tendon retraction. A muscle weakness was not noted. CK levels were up to 350 UI/L. Deltoid muscle biopsy showed nuclear centralization and clustering, deep sarcolemmal invaginations and type 1 fiber hypotrophy. Whole body MRI revealed fatty infiltration of posterior legs compartments, lumbar paraspinal and serratus muscles. Myotonic dystrophy type1 and 2, Pompe disease and MTM1 and DNM2-related CNM were ruled out. By sequencing BIN1, we identified a heterozygous pathogenic mutation [c.107C > A (p.A36E)], and we demonstrate that the mutation strongly impairs the membrane tubulation property of the protein. One affected sister carried the same mutation. Her clinical examination and muscle MRI revealed a similar phenotype. Our findings expand the clinical and genetic spectrum of the autosomal dominant CNM associated with BIN1 mutations

Reducing Secondary Flow Losses in Low-Pressure Turbines: The "Snaked" Blade

This paper presents an innovative design for reducing the impact of secondary flows on the aerodynamics of low-pressure turbine (LPT) stages. Starting from a state-of-the-art LPT stage, a local reshaping of the stator blade was introduced in the end-wall region in order to oppose the flow turning deviation. This resulted in an optimal stator shape, able to provide a more uniform exit flow angle. The detailed comparison between the baseline stator and the redesigned one allowed for pointing out that the rotor row performance increased thanks to the more uniform inlet flow, while the stator losses were not significantly affected. Moreover, it was possible to derive some design rules and to devise a general blade shape, named 'snaked', able to ensure such results. This generalization translated in an effective parametric description of the 'snaked' shape, in which few parameters are sufficient to describe the optimal shape modification starting from a conventional design. The "snaked" blade concept and its design have been patented by Avio Aero. The stator redesign was then applied to a whole LPT module in order to evaluate the potential benefit of the 'snaked' design on the overall turbine performance. Finally, the design was validated by means of an experimental campaign concerning the stator blade. The spanwise distributions of the flow angle and pressure loss coefficient at the stator exit proved the effectiveness of the redesign in providing a more uniform flow to the successive row, while preserving the original stator losses

Machine learning methods detect arm movement impairments in a patient with parieto-occipital lesion using only early kinematic information

Patients with lesions of the parieto-occipital cortex typically misreach visual targets that they correctly perceive (optic ataxia). Although optic ataxia was described more than 30 years ago, distinguishing this condition from physiological behavior using kinematic data is still far from being an achievement. Here, combining kinematic analysis with machine learning methods, we compared the reaching performance of a patient with bilateral occipitoparietal damage with that of 10 healthy controls. They performed visually guided reaches toward targets located at different depths and directions. Using the horizontal, sagittal, and vertical deviation of the trajectories, we extracted classification accuracy in discriminating the reaching performance of patient from that of controls. Specifically, accurate predictions of the patient's deviations were detected after the 20% of the movement execution in all the spatial positions tested. This classification based on initial trajectory decoding was possible for both directional and depth components of the movement, suggesting the possibility of applying this method to characterize pathological motor behavior in wider frameworks

Catalytic Mechanism of Fungal Lytic Polysaccharide Monooxygenases Investigated by First-Principles Calculations

Lytic polysaccharide monooxygenases (LPMOs) are Cu-containing enzymes that facilitate the degradation of recalcitrant polysaccharides by the oxidative cleavage of glycosidic bonds. They are gaining rapidly increasing attention as key players in biomass conversion, especially for the production of second-generation biofuels. Elucidation of the detailed mechanism of the LPMO reaction is a major step toward the assessment and optimization of LPMO efficacy in industrial biotechnology, paving the way to utilization of sustainable fuel sources. Here, we used density functional theory calculations to study the reaction pathways suggested to date, exploiting a very large active-site model for a fungal AA9 LPMO and using a celloheptaose unit as a substrate mimic. We identify a copper oxyl intermediate as being responsible for H-atom abstraction from the substrate, followed by a rapid, water-assisted hydroxyl rebound, leading to substrate hydroxylation

Primo quaderno dei dottorandi

Il testo riunisce sei articoli, estratti dai singoli percorsi di ricerca di Dottoranto degli autori. Sono espressione dei diversi campi di interesse che nel Dipartimento e nel Collegio del Dottorato convivono

A PATH TOWARDS THE AERODYNAMIC ROBUST DESIGN OF LOW PRESSURE TURBINES

ABSTRACT Airline companies are continuously demanding lower-fuelconsuming engines and this leads to investigating innovative configurations and to further improving single module performance. In this framework the Low Pressure Turbine (LPT) is known to be a key component since it has a major effect on specific fuel consumption (SFC). Modern aerodynamic design of LPTs for civil aircraft engines has reached high levels of quality, but new engine data, after first engine tests, often cannot achieve the expected performance. Further work on the modules is usually required, with additional costs and time spent to reach the quality level needed to enter in service. The reported study is aimed at understanding some of the causes for this deficit and how to solve some of the highlighted problems. In a real engine, the LPT module works under conditions which differ from those described in the analyzed numerical model: the definition of the geometry cannot be so accurate, a priori unknown values for boundary conditions data are often assumed, complex physical phenomena are seldom taken into account, operating cycle may differ from the design intent due to a non-optimal coupling with other engine components. Moreover, variations are present among different engines of the same family, manufacturing defects increase the uncertainty and, finally, deterioration of the components occurs during service. Research projects and several studies carried out by the authors lead to the conclusion that being able to design a module whose performance is less sensitive to variations (Robust LPT) brings advantages not only when the engine performs under strong off-design conditions but also, due to the abovementioned unknowns, near the design point as well. Concept and Preliminary Design phases are herein considered, highlighting the results arising from sensibility studies and their impact on the final designed robust configuration. Module performance is afterward estimated using a statistical approach

Noninvasive estimation of left ventricular filling pressures in patients with heart failure after surgical ventricular restoration and restrictive mitral annuloplasty

ObjectiveDoppler echocardiography, including tissue Doppler imaging, is widely applied to assess diastolic left ventricular function using early transmitral flow velocity combined with mitral annular velocity as a noninvasive estimate of left ventricular filling pressures. However, the accuracy of early transmitral flow velocity/mitral annular velocity in patients with heart failure, particularly after extensive cardiac surgery, is debated. Global diastolic strain rate during isovolumic relaxation obtained with 2-dimensional speckle-tracking analysis was recently proposed as an alternative approach to estimate left ventricular filling pressures.MethodsWe analyzed diastolic function in patients with heart failure after surgical ventricular restoration and/or restrictive mitral annuloplasty. Echocardiography, including tissue Doppler imaging and speckle-tracking analysis, was performed to determine early transmitral flow velocity/atrial transmitral flow velocity, isovolumetric relaxation time, deceleration time, early transmitral flow velocity/mean mitral annular velocity, strain rate during isovolumic relaxation, and early transmitral flow velocity/strain rate during isovolumic relaxation. These noninvasive indices were correlated with relaxation time constant Tau, peak rate of pressure decline, and left ventricular end-diastolic pressure obtained in the catheterization room using high-fidelity pressure catheters.ResultsTwenty-three patients were analyzed 6 months after restrictive mitral annuloplasty (n = 8), surgical ventricular restoration (n = 4), or a combined procedure (n = 11). The strongest correlation with invasive indices, in particular left ventricular end-diastolic pressure, was found for strain rate during isovolumic relaxation (r = −0.76, P < .001). Early transmitral flow velocity/mean mitral annular velocity did not correlate significantly with any of the invasive indices. Strain rate during isovolumic relaxation (cutoff value < 0.38 s−1) accurately predicted left ventricular end-diastolic pressure of 16 mm Hg or more with 100% sensitivity and 93% specificity.ConclusionsIn a group of patients with heart failure who were investigated 6 months after cardiac surgery, early transmitral flow velocity/mean mitral annular velocity correlated poorly with invasively obtained diastolic indexes. Global strain rate during isovolumic relaxation, however, correlated well with left ventricular end-diastolic pressure and peak rate of pressure decline. Our data suggest that global strain rate during isovolumic relaxation is a promising noninvasive index to assess left ventricular filling pressures in patients with heart failure after extensive cardiac surgery, including restrictive mitral annuloplasty and surgical ventricular restoration

Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies

A 31-year-old man experienced at-rest cardiac arrest. After successful resuscitation, the baseline ECG demonstrated sinus rhythm with concave ST segment elevation in right precordial leads (V1–V3) followed by a negative and symmetrical T-wave. Neither coronary artery disease nor electrolytes’ imbalances were detected. In the following days, ECG showed a spontaneous type 1 Brugada ECG pattern (Figure [A1]), more evident with right precordial leads in II and III intercostal spaces. Transthoracic echocardiography (Figure [A2]) failed to show any cardiomyopathy. Cardiac MRI showed normal chambers dimension, wall thickness, volume, and function (left ventricular end diastolic volume, 67.7 mL/m2; IVS, 1 cm; left ventricular end fraction, 59.7%). Late gadolinium enhancement sequences were negative; adipose and fibrous tissue infiltration were excluded. The patient was implanted with a transvenous single chamber cardioverter defibrillator (Medtronic). Several appropriate ICD interventions on VT and ventricular fibrillation were recorded in the following years. Family history (Figure [B]) was positive for sudden cardiac death: the maternal grandfather died at age 45 years, aII degree maternal cousin died during sleep at age 40 years. The proband’s mother showed a first degree atrioventricular block (PR interval=280 ms) and right bundle branch block (Figure [A3]). A neurological examination in the index case and his mother was negative and creatine phosphokinase levels were normal in both. Informed written consent was obtained from all family members. Study was approved by the Local Ethics Committee (152/2013/O/Oss, June 1, 2013). Molecular genetic analysis was performed by next generation sequencing using PED MASTR Plus assay comprising 52 cardiac electrical disorders related genes, SCN5A included (www.agilent.com)