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

Update of High Resolution (e,e'K^+) Hypernuclear Spectroscopy at Jefferson Lab's Hall A

Updated results of the experiment E94-107 hypernuclear spectroscopy in Hall A of the Thomas Jefferson National Accelerator Facility (Jefferson Lab), are presented. The experiment provides high resolution spectra of excitation energy for 12B_\Lambda, 16N_\Lambda, and 9Li_\Lambda hypernuclei obtained by electroproduction of strangeness. A new theoretical calculation for 12B_\Lambda, final results for 16N_\Lambda, and discussion of the preliminary results of 9Li_\Lambda are reported.Comment: 8 pages, 5 figures, submitted to the proceedings of Hyp-X Conferenc

Can the parasites of the head of juvenile Thunnus thynnus help to identify its nursery areas in the Mediterranean Sea?

Between 2009 and 2013, the head region of 102 juveniles of Atlantic bluefin tuna (Thunnus thynnus L.) caught in four nursery areas of the Mediterranean Sea (Balearic Sea, Ionian Sea, Ligurian Sea and Tyrrhenian Sea) were analysed for parasites. Eleven parasite species were found: Capsala magronum, C. onchidiocotyle, C. paucispinosa, Nasicola klawei, Hexostoma thynni, Didymocystis sp. 2 (sensu Rodríguez-Marín et al., 2008), Didymosulcus sp. 2 (sensu Rodríguez-Marín et al. 2008), Didymosulcus wedli, Didymozoon pretiosus, Nematobothriinae gen. sp. and Wedlia sp. The prevalence of some food-borne parasites (Didymocystis sp. 2, D. pretiosus, Nematobothriinae gen. sp. and Wedlia sp.) had significant differences between localities (p ≤ 0.05). The results showed that the parasite fauna of juvenile tunas is not homogenously distributed in the Mediterranean Sea: parasite assemblages differed between hosts from the Balearic, Ionian, Ligurian, and Tyrrhenian seas, suggesting parasites as possible tags to identify the different tuna populations from the corresponding nursery areas.Postprint0,000

Plasma deposition of constrained layer damping coatings

Plasma techniques are used to generate constrained layer damping (CLD) coatings on metallic substrates. The process involves the deposition of relatively thick, hard ceramic layers on to soft polymeric damping materials while maintaining the integrity of both layers. Reactive plasma sputter-deposition from an aluminium alloy target is used to deposit alumina layers, with Young's modulus in the range 77-220GPa and thickness up to 335 μ, on top of a silicone film. This methodology is also used to deposit a 40 μ alumina layer on a conventional viscoelastic damping film to produce an integral damping coating. Plasma CLD systems are shown to give at least 50 per cent more damping than equivalent metal-foil-based treatments. Numerical methods for rapid prediction of the performance of such coatings are discussed and validated by comparison with experimental results