Obstructive Sleep Apnea Syndrome: From Phenotype to Genetic Basis

Obstructive sleep apnea syndrome (OSAS) is a complex chronic clinical syndrome, characterized by snoring, periodic apnea, hypoxemia during sleep, and daytime hypersomnolence. It affects 4-5% of the general population. Racial studies and chromosomal mapping, familial studies and twin studies have provided evidence for the possible link between the OSAS and genetic factors and also most of the risk factors involved in the pathogenesis of OSAS are largely genetically determined. A percentage of 35-40% of its variance can be attributed to genetic factors. It is likely that genetic factors associated with craniofacial structure, body fat distribution and neural control of the upper airway muscles interact to produce the OSAS phenotype. Although the role of specific genes that influence the development of OSAS has not yet been identified, current researches, especially in animal model, suggest that several genetic systems may be important. In this chapter, we will first define the OSAS phenotype, the pathogenesis and the risk factors involved in the OSAS that may be inherited, then, we will review the current progress in the genetics of OSAS and suggest a few future perspectives in the development of therapeutic agents for this complex disease entity

Image Based Modeling Technique for Pavement Distress surveys: a Specific Application to Rutting

Image-based modeling (IBM) is a well-known technique to obtain high quality 3D models based on multi view images. IBM started being used in several applications such as inspection, identification of objects and visualization, due to the user-friendly approach, the low cost and highly automated technique. This paper focuses on the investigation of the potential application of IBM in the diagnosis of road pavement distresses and in particular rutting. Indeed, the evaluation of the rutting distress is a fundamental step to define the whole state of a pavement as demonstrated by the calculation of Present Serviceability Index (PSI). Currently, the permanent deformation is measured monitoring visually the rut depth with the approximations that this procedure involves. Nevertheless, the exact measure of the rut depth is necessary to evaluate precisely the cause and the severity of this distress and be effective in the maintenance and rehabilitation of the pavement structure. The objective of this study is to apply the IBM technique on a laboratory rutted sample, in order to verify the accuracy of the method in determining the rut depth. To achieve this, a comparison has been made between the 3D model obtained with IBM and the one obtained with blue led 3D scan (Artec Spider) of the same rutted asphalt concrete. The metric accuracy of the model is then defined and its validity is assessed, in terms of distress diagnosis

Casimir force between sharp-shaped conductors

Casimir forces between conductors at the sub-micron scale cannot be ignored in the design and operation of micro-electromechanical (MEM) devices. However, these forces depend non-trivially on geometry, and existing formulae and approximations cannot deal with realistic micro-machinery components with sharp edges and tips. Here, we employ a novel approach to electromagnetic scattering, appropriate to perfect conductors with sharp edges and tips, specifically to wedges and cones. The interaction of these objects with a metal plate (and among themselves) is then computed systematically by a multiple-scattering series. For the wedge, we obtain analytical expressions for the interaction with a plate, as functions of opening angle and tilt, which should provide a particularly useful tool for the design of MEMs. Our result for the Casimir interactions between conducting cones and plates applies directly to the force on the tip of a scanning tunneling probe; the unexpectedly large temperature dependence of the force in these configurations should attract immediate experimental interest

Idiopathic sensorineural hearing loss is associated with endothelial dysfunction

Hearing impairment is the most prevalent sensory deficit [1]. Sensorineural hearing loss (SNHL) is the most common type of permanent hearing loss and it occurswhen there is damage to the inner ear (cochlea), or to the nerve pathways fromthe inner ear to the brain.Most of the time, SNHL cannot be medically or surgically corrected. SNHL can result from genetic, environmental, or combined etiologies that prevent normal function of hearing, but, despite detailed investigation, the main cause remains usually unknown. Clinical and experimental studies have shown that ischemia contributes to several SNHL [2], suchas sudden sensoneural hearing loss, presbyacusis and noise-induced hearing loss. All of these SNHL can be related to alteration in blood flow [3]. The aim of the study is finding a relationship between idiopathic SNHL and endothelial dysfunction

Testing the neutrality of matter by acoustic means in a spherical resonator

New measurements to test the neutrality of matter by acoustic means are reported. The apparatus is based on a spherical capacitor filled with gaseous SF$_6$ excited by an oscillating electric field. The apparatus has been calibrated measuring the electric polarizability. Assuming charge conservation in the $\beta$ decay of the neutron, the experiment gives a limit of $\epsilon_\text{p-e}\lesssim1\cdot10^{-21}$ for the electron-proton charge difference, the same limit holding for the charge of the neutron. Previous measurements are critically reviewed and found incorrect: the present result is the best limit obtained with this technique

T-Odd Correlations in pi->e nu_e gamma and pi->mu nu_mu gamma Decays

The transverse lepton polarization asymmetry in pi_l2gamma decays may probe T-violating interactions beyond the Standard Model. Dalitz plot distributions of the expected effects are presented and compared to the contribution from the Standard Model final state interactions. We give an example of a phenomenologically viable model, where a considerable contribution to the transverse lepton polarization asymmetry arises.Comment: 19 pages, 5 figures. To be published in Phys.Rev.D. Fixed sign in FSI contribution figure, fixed formulas in K-bar{K} mixing analysis, added some minor comment

Strong Casimir force reduction through metallic surface nanostructuring

The Casimir force between bodies in vacuum can be understood as arising from their interaction with an infinite number of fluctuating electromagnetic quantum vacuum modes, resulting in a complex dependence on the shape and material of the interacting objects. Becoming dominant at small separations, the force plays a significant role in nanomechanics and object manipulation at the nanoscale, leading to a considerable interest in identifying structures where the Casimir interaction behaves significantly different from the well-known attractive force between parallel plates. Here we experimentally demonstrate that by nanostructuring one of the interacting metal surfaces at scales below the plasma wavelength, an unexpected regime in the Casimir force can be observed. Replacing a flat surface with a deep metallic lamellar grating with sub-100 nm features strongly suppresses the Casimir force and for large inter-surfaces separations reduces it beyond what would be expected by any existing theoretical prediction.Comment: 11 pages, 8 figure

Can a pathological model improve the abilities of the paretic hand in hemiplegic children? the PAM-AOT study protocol of a randomised controlled trial

Introduction Action Observation Treatment (AOT) is an innovative therapeutic approach consisting in the observation of actions followed by subsequent repetition. In children with unilateral cerebral palsy (UCP), it improves upper limb function in daily activities. The standard paradigm of AOT requires the observation of healthy models; however, it has been demonstrated that the mirror neuron system of children with UCP is more activated by observation of pathological models, showing a similar motor repertoire, than by the healthy model, suggesting that AOT based on pathological models is superior to the standard paradigm of AOT in the functional rehabilitation of the affected upper limb of children with UCP. Methods and analysis This protocol describes an active two-arm randomised controlled evaluator-blinded trial. Twenty-six children with UCP will participate in 3 weeks of intensive AOT: the experimental group will observe a pathological model, while the control group will observe a typically developed model. The primary outcome is the spontaneous use of the paretic hand, measured with the Assisting Hand Assessment. Secondary outcome measures are the Melbourne Assessment of Unilateral Upper Limb Function, the ABILHAND-Kids and the Activities Scale for Kids-performance. Assessments will be performed at baseline (T0), at the end of intensive AOT (T1), at 8-12 weeks (T2) and at 24-28 weeks (T3) after the end of intensive AOT. Ethics and dissemination The trial was approved by the Area Vasta Emilia Nord Ethics Committee (AVEN prot. n. 133117, 29 November 2018), and it was prospectively registered on ClinicalTrials.gov. The results will be submitted for publication to a peer-reviewed journal, discussed with parents of children participating in the trial and disseminated at suitable conferences. Trial registration number NCT04088994; Pre-results

Can a pathological model improve the abilities of the paretic hand in hemiplegic children? the PAM-AOT study protocol of a randomised controlled trial

Introduction Action Observation Treatment (AOT) is an innovative therapeutic approach consisting in the observation of actions followed by subsequent repetition. In children with unilateral cerebral palsy (UCP), it improves upper limb function in daily activities. The standard paradigm of AOT requires the observation of healthy models; however, it has been demonstrated that the mirror neuron system of children with UCP is more activated by observation of pathological models, showing a similar motor repertoire, than by the healthy model, suggesting that AOT based on pathological models is superior to the standard paradigm of AOT in the functional rehabilitation of the affected upper limb of children with UCP. Methods and analysis This protocol describes an active two-arm randomised controlled evaluator-blinded trial. Twenty-six children with UCP will participate in 3 weeks of intensive AOT: the experimental group will observe a pathological model, while the control group will observe a typically developed model. The primary outcome is the spontaneous use of the paretic hand, measured with the Assisting Hand Assessment. Secondary outcome measures are the Melbourne Assessment of Unilateral Upper Limb Function, the ABILHAND-Kids and the Activities Scale for Kids-performance. Assessments will be performed at baseline (T0), at the end of intensive AOT (T1), at 8-12 weeks (T2) and at 24-28 weeks (T3) after the end of intensive AOT. Ethics and dissemination The trial was approved by the Area Vasta Emilia Nord Ethics Committee (AVEN prot. n. 133117, 29 November 2018), and it was prospectively registered on ClinicalTrials.gov. The results will be submitted for publication to a peer-reviewed journal, discussed with parents of children participating in the trial and disseminated at suitable conferences. Trial registration number NCT04088994; Pre-results