Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family

The main purpose of this study was to describe a novel missense mutation (p.D179H) found in a Western Sicily family and to examine the genetic and audiologic profiles of all family members by performing a GJB2 and GJB6 mutations analysis and a complete audiologic assessment. The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G[C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. It was also evidenced in the heterozygous state in two members of this family, both with normal hearing. No GJB6 mutations were evidenced in all subjects studied. Considering the genotypic and phenotypic analysis of all family members, we suggest, differently from the p.D179 N mutation previously reported, a recessive mode of inheritance. Functional studies on p.D179H have to be performed to confirm our hypothesis

Thermocapillary actuation of liquid flow on chemically patterned surfaces

We have investigated the thermocapillary flow of a Newtonian liquid on hydrophilic microstripes which are lithographically defined on a hydrophobic surface. The speed of the microstreams is studied as a function of the stripe width w, the applied thermal gradient |dT/dx| and the liquid volume V deposited on a connecting reservoir pad. Numerical solutions of the flow speed as a function of downstream position show excellent agreement with experiment. The only adjustable parameter is the inlet film height, which is controlled by the ratio of the reservoir pressure to the shear stress applied to the liquid stream. In the limiting cases where this ratio is either much smaller or much larger than unity, the rivulet speed shows a power law dependency on w, |dT/dx| and V. In this study we demonstrate that thermocapillary driven flow on chemically patterned surfaces can provide an elegant and tunable method for the transport of ultrasmall liquid volumes in emerging microfluidic technologies

Has VZV epidemiology changed in Italy? Results of a seroprevalence study

The aim of the study was to evaluate if and how varicella prevalence has changed in Italy. In particular a seroprevalence study was performed, comparing it to similar surveys conducted in pre-immunization era. During 2013–2014, sera obtained from blood samples taken for diagnostic purposes or routine investigations were collected in collaboration with at least one laboratory/center for each region, following the approval of the Ethics Committee. Data were stratified by sex and age. All samples were processed in a national reference laboratory by an immunoassay with high sensitivity and specificity. Statutory notifications, national hospital discharge database and mortality data related to VZV infection were analyzed as well. A total of 3707 sera were collected and tested. In the studied period both incidence and hospitalization rates decreased and about 5 deaths per year have been registered. The seroprevalence decreased in the first year of life in subjects passively protected by their mother, followed by an increase in the following age classes. The overall antibody prevalence was 84%. The comparison with surveys conducted with the same methodology in 1996–1997 and 2003–2004 showed significant differences in age groups 1–19 y. The study confirms that in Italy VZV infection typically occurs in children. The impact of varicella on Italian population is changing. The comparison between studies performed in different periods shows a significant increase of seropositivity in age class 1–4 years, expression of vaccine interventions already adopted in some regions

Circulating Cell-Free DNA in Dogs with Mammary Tumors: Short and Long Fragments and Integrity Index

Circulating cell-free DNA (cfDNA) has been considered an interesting diagnostic/prognostic plasma biomarker in tumor-bearing subjects. In cancer patients, cfDNA can hypothetically derive from tumor necrosis/apoptosis, lysed circulating cells, and some yet unrevealed mechanisms of active release. This study aimed to preliminarily analyze cfDNA in dogs with canine mammary tumors (CMTs). Forty-four neoplastic, 17 non-neoplastic disease-bearing, and 15 healthy dogs were recruited. Necrosis and apoptosis were also assessed as potential source of cfDNA on 78 CMTs diagnosed from the 44 dogs. The cfDNA fragments and integrity index significantly differentiated neoplastic versus non-neoplastic dogs (P<0.05), and allowed the distinction between benign and malignant lesions (P<0.05). Even if without statistical significance, the amount of cfDNA was also affected by tumor necrosis and correlated with tumor size and apoptotic markers expression. A significant (P<0.01) increase of Bcl-2 in malignant tumors was observed, and in metastatic CMTs the evasion of apoptosis was also suggested. This study, therefore, provides evidence that cfDNA could be a diagnostic marker in dogs carrying mammary nodules suggesting that its potential application in early diagnostic procedures should be further investigated

The power-capture of a nearshore, modular, flap-type wave energy converter in regular waves

Bottom-hinged, nearshore flap-type wave energy converters (WECs), have several advantages, such as high power conversion efficiency and survivability. They typically comprise a single flap spanning their full width. However, a potentially beneficial design change would be to split the flap into multiple modules, to make a ‘Modular Flap’. This could provide improvements, such as increased power-capture, reduced foundation loads and lower manufacturing and installation costs. Assessed in this work is the hydrodynamic power-capture of this device, based on physical modelling. Comparisons are made to an equivalent ‘Rigid Flap’. Tests are conducted in regular, head-on and off-angle waves. The simplest control strategy, of damping each module equally, is employed. The results show that, for head-on waves, the power increases towards the centre of the device, with the central modules generating 68% of the total power. Phase differences are also present. Consequently, the total power produced by the Modular Flap is, on average, 23% more smooth than that generated by the Rigid Flap. The Modular Flap has 3% and 1% lower average power-capture than the Rigid Flap in head-on and off-angle waves, respectively. The advantages of the modular concept may therefore be exploited without significantly compromising the power-capture of the flap-type WEC

Grazing and control of coral reef community structure by Diadema antillarum Philippi (Echinodermata: Echinoidea): A preliminary study

The grazing activities of the tropical echinoid Diadema antillarum Philippi can markedly influence the structure of the shallow-water epibenthic coral reef community. The elimination of an entire Diadema population from a patch reef in St. Croix, U.S. Virgin Islands resulted in a great increase in macro-algal biomass, alterations in species composition, shifts in dominance, an increase in species numbers, and a decrease in equitability...

A novel μCT analysis reveals different responses of bioerosion and secondary accretion to environmental variability

Corals build reefs through accretion of calcium carbonate (CaCO3) skeletons, but net reef growth also depends on bioerosion by grazers and borers and on secondary calcification by crustose coralline algae and other calcifying invertebrates. However, traditional field methods for quantifying secondary accretion and bioerosion confound both processes, do not measure them on the same time-scale, or are restricted to 2D methods. In a prior study, we compared multiple environmental drivers of net erosion using pre- and post-deployment micro-computed tomography scans (μCT; calculated as the % change in volume of experimental CaCO3 blocks) and found a shift from net accretion to net erosion with increasing ocean acidity. Here, we present a novel μCT method and detail a procedure that aligns and digitally subtracts pre- and post-deployment μCT scans and measures the simultaneous response of secondary accretion and bioerosion on blocks exposed to the same environmental variation over the same time-scale. We tested our method on a dataset from a prior study and show that it can be used to uncover information previously unattainable using traditional methods. We demonstrated that secondary accretion and bioerosion are driven by different environmental parameters, bioerosion is more sensitive to ocean acidity than secondary accretion, and net erosion is driven more by changes in bioerosion than secondary accretion

The optimal design of a flap gate array in front of a straight vertical wall: Resonance of the natural modes and enhancement of the exciting torque

We consider a wave energy converter made of an array of Q neighbouring floating flap gates with finite thickness in front of a straight vertical wall in constant depth. Solutions of the radiation and scattering problems are achieved by application of Green's theorem and Green's function yielding a system of hypersingular integral equations for the velocity potential expanded in terms of Legendre polynomials. We investigate how the distance between the array and the vertical wall affects the performance of the array under the action of monochromatic and random waves. We show that large values of the exciting torque on the gates can be obtained by tuning the wall distance with the resonance of the natural modes of the array; this in turn yields large power extraction for a wide range of frequencies

Theory of the synchronous motion of an array of floating flap gates oscillating wave surge converter

We consider a finite array of floating flap gates oscillating wave surge converter (OWSC) in water of constant depth. The diffraction and radiation potentials are solved in terms of elliptical coordinates and Mathieu functions. Generated power and capture width ratio of a single gate excited by incoming waves are given in terms of the radiated wave amplitude in the far field. Similar to the case of axially symmetric absorbers, the maximum power extracted is shown to be directly proportional to the incident wave characteristics: energy flux, angle of incidence and wavelength. Accordingly, the capture width ratio is directly proportional to the wavelength, thus giving a design estimate of the maximum efficiency of the system. We then compare the array and the single gate in terms of energy production. For regular waves, we show that excitation of the out-of-phase natural modes of the array increases the power output, while in the case of random seas we show that the array and the single gate achieve the same efficiency