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

An epistatic mini-circuitry between the transcription factors Snail and HNF4a controls liver stem cell and hepatocyte features exhorting opposite regulation on stemness-inhibiting microRNAs

Preservation of the epithelial state involves the stable repression of EMT program while maintenance of the stem compartment requires the inhibition of differentiation processes. A simple and direct molecular mini-circuitry between master elements of these biological processes, may provide the best device to keep balanced such complex phenomena. In this work, we show that in hepatic stem cell Snail, a transcriptional repressor of the hepatocyte differentiation master gene HNF4, directly represses the expression of the epithelial microRNAs-200c and -34a, which in turn target several stem cell genes. Notably, in differentiated hepatocytes HNF4, previously identified as a transcriptional repressor of Snail, induces the microRNAs-34a and -200a, b, c that, when silenced, causes epithelial dedifferentiation and reacquisition of stem traits. Altogether these data unveiled Snail, HNF4 and microRNAs -200a, b, c and -34a as epistatic elements controlling hepatic stem cell maintenance/differentiation

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

Wind turbine drive-train condition monitoring through tower vibrations measurement and processing

A new method for wind turbine drive-train condition monitoring is proposed: the innovative idea is that vibrations are measured at the tower. The critical point is extracting knowledge about the drive-train from tower measurements: this is achieved by measuring simultaneously at the highest possible number of nearby wind turbines. One wind turbine is selected as target and the others are used as reference. The data are analyzed in the time domain basing on statistical features (root mean square, peak, crest factor, skewness, kurtosis). The data set in the feature space reduces to a matrix, from which the observations at the target wind turbine should be distinguishable. The application of this algorithm is supported by univariate statistical tests and by Principal Component Analysis. A novelty index based on the Mahalanobis distance is finally used to detect the statistical novelty of the damaged wind turbine. This work is based on field measurement campaigns, performed by the authors in 2018 and 2019 at wind farms owned by the Renvico company

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