Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in in a Large Cohort of Italian Patients.

Four main clinical phenotypes have been traditionally described in patients mutated in SCN4A, including sodium-channel myotonia (SCM), paramyotonia congenita (PMC), Hypokaliemic type II (HypoPP2), and Hyperkaliemic/Normokaliemic periodic paralysis (HyperPP/NormoPP); in addition, rare phenotypes associated with mutations in SCN4A are congenital myasthenic syndrome and congenital myopathy. However, only scarce data have been reported in literature on large patient cohorts including phenotypes characterized by myotonia and episodes of paralysis. We retrospectively investigated clinical and molecular features of 80 patients fulfilling the following criteria: (1) clinical and neurophysiological diagnosis of myotonia, or clinical diagnosis of PP, and (2) presence of a pathogenic SCN4A gene variant.

Investigation of the Electromagnetic Radiation Emitted by Sub-GeV Electrons in a Bent Crystal.

The radiation emitted by 855 MeV electrons via planar channeling and volume reflection in a 30.5-μm-thick bent Si crystal has been investigated at the MAMI (Mainzer Mikrotron) accelerator. The spectral intensity was much more intense than for an equivalent amorphous material, and peaked in the MeV range in the case of channeling radiation.

Orientational Coherent Effects of High-Energy Particles in a LiNbO3 Crystal.

A bent lithium niobate strip was exposed to a 400-GeV/c proton beam at the external lines of CERN Super Proton Synchrotron to probe its capabilities versus coherent interactions of the particles with the crystal such as channeling and volume reflection. Lithium niobate (LiNbO3) exhibits an interplanar electric field comparable to that of Silicon (Si) and remarkable piezoelectric properties, which could be exploited for the realization of piezo-actuated devices for the control of high-energy particle beams. In contrast to Si and germanium (Ge), LiNbO3 shows an intriguing effect; in spite of a low channeling efficiency (3%), the volume reflection maintains a high deflection efficiency (83%).

The experimental setup of the Interaction in Crystals for Emission of RADiation collaboration at Mainzer Mikrotron: Design, commissioning, and tests.

Silicon/germanium flat/bent crystals are thin devices able to efficiently deflect charged particle GeV-energy beams up to a few hundreds of μrad; moreover, high intensity photons can be efficiently produced in the so-called Multi-Volume Reflection (MVR) and Multiple Volume Reflections in One Crystal (MVROC) conditions. In the last years, the research interest in this field has moved to the dynamic studies of light negative leptons in the low energy range: the possibility to deflect negative particles and to produce high intensity γ sources via the coherent interactions with crystals in the sub-GeV energy range has been proved by the ICE-RAD (Interaction in Crystals for Emission of RADiation) Collaboration at the MAinzer MIkrotron (MAMI, Germany). This paper describes the setup used by the ICE-RAD experiment for the crystals characterization (both in terms of deflection and radiation emission properties): a high precision goniometer is used to align the crystals with the incoming beam, while a silicon based profilometer and an inorganic scintillator reconstruct, respectively, the particle position and the photon spectra after the samples.

Steering of a sub-GeV electron beam through planar channeling enhanced by rechanneling.

We report the observation of efficient steering of a 855 MeV electron beam at MAMI (MAinzer MIkrotron) facilities by means of planar channeling and volume reflection in a bent silicon crystal. A 30.5  μm thick plate of (211) oriented Si was bent to cause quasimosaic deformation of the (111) crystallographic planes, which were used for coherent interaction with the electron beam.

Broad and intense radiation accompanying multiple volume reflection of ultrarelativistic electrons in a bent crystal.

The radiation emitted by 120  GeV/c electrons traversing a single bent crystal under multiple volume reflection orientation is investigated. Multiple volume reflection in one crystal occurs as a charged particle impacts on a bent crystal at several axial channeling angles with respect to a crystal axis. The resulting energy-loss spectrum of electrons was very intense over the full energy range up to the nominal energy of the beam.

Food allergy as defined by component resolved diagnosis.

The diagnosis of food allergy, as assessed by skin tests or in vitro tests with allergen extracts, has insufficient diagnostic performance and needs to be confirmed by food challenges. However, the availability of molecular allergens (recombinant or highly purified) for laboratory methods has profoundly changed the diagnostic approach to food allergy. In fact, the allergy diagnosis conducted at the molecular level, which is defined internationally as component resolved diagnosis (CRD), allows to characterize more precisely the sensitization profile of the individual patient, distinguishing the sensitizations to allergens that are strongly associated with a given source (genuine sensitizers) from those to molecules that are common to many sources (panallergens) or cross-react with other components from the same family or from other families.

Coherent effects of high-energy particles in a graded Si(1-x)Ge(x) crystal.

A graded Si(1-x)Ge(x) crystal has been manufactured for operation with high-energy protons to excite coherent interactions of the particles with the crystal such as channeling and volume reflection. The crystal had the shape of a parallelepiped though its (111) atomic planes were curved at a radius of 25.6 m because of the graded Ge content.

Volume reflection dependence of 400 GeV/c protons on the bent crystal curvature.

The trend of volume reflection parameters (deflection angle and efficiency) in a bent (110) silicon crystal has been investigated as a function of the crystal curvature with 400 GeV/c protons on the H8 beam line at the CERN Super Proton Synchrotron. This Letter describes the analysis performed at six different curvatures showing that the optimal radius for volume reflection is approximately 10 times greater than the critical radius for channeling. A strong scattering of the beam by the planar potential is also observed for a bend radius close to the critical one.

[Treatment using immucytal in children with recurrent respiratory infections: an Italian multicenter experience].

120 children, 71 male and 49 female, aged between 2 years and 15 years (mean 6.15 +/- 3.52 years) with recurrent respiratory infections, were treated with Immucytal, an immunomodulator of bacterial origin, based on membrane proteoglycan fractions plus bacterial ribosomes.

[Therapy of vasculitis in children].

Therapy of vasculitis syndromes varies considerably according to different forms and gravity. Mild cases often heal spontaneously. In other cases, when the causal factors are known, the removal of the offending antigen or the treatment of an underlying primary disease are sufficient to obtain remission.

[Vasculitis associated with connectivitis].

A great number of vasculitis in childhood is associated with Rheumatic disease. Vascular lesions involve small vessels of various organs. These are described in systemic lupus erythematosus, juvenile rheumatoid arthritis, dermatomyositis, scleroderma, mixed connective tissue disease, Behçet syndrome, Sjögren syndrome.

[Chylothorax in a newborn infant].

A case of chylothorax in newborn is described. A the fifteenth day a sudden respiratory distress for chylothorax has appeared. A continuous drainage, after thoracenteses, has been placed; the clinic course has been favourable and, at five day, we have started with MCT feeding.