Targeting Nfix to fix muscular dystrophies

Muscular dystrophies (MDs) are still incurable heterogeneous diseases, characterized by muscle wasting, replacement by fibrotic tissue, and increasing weakness, which in severe cases, such as Duchenne MD, lead to premature death. MDs are due to mutations encompassing different dystrophin-glycoprotein complex (DGC) genes, which code for structural proteins that anchor the cytoskeleton to the extracellular matrix, thus conferring myofiber stability. All mutations destabilizing this complex result in different MD forms, with varying levels of severity. Independently of the genetic defect, MDs share common hallmarks, characterized by continuous cycles of muscle degeneration, due to lack of structural support during contraction, followed by regeneration cycles by satellite cells (SCs), the canonical myogenic stem cells of adult muscle. However, dystrophic SCs generate new fibres which are also prone to degeneration so that, after many cycles of degeneration/regeneration, this cell population is exhausted and muscle is replaced by connective and adipose tissue. At this stage, any therapeutic intervention is likely to fail

Single layer graphene film by ethanol chemical vapor deposition: Highly efficient growth and clean transfer method

The choice of ethanol (C2H5OH) as carbon source in the Chemical Vapor Deposition (CVD) of graphene on copper foils can be considered as an attractive alternative among the commonly used hydrocarbons, such as methane (CH4) [1]. Ethanol, a safe, low cost and easy handling liquid precursor, offers fast and efficient growth kinetics with the synthesis of fullyformed graphene films in just few seconds [2]. In previous studies of graphene growth from ethanol, various research groups explored temperature ranges lower than 1000 °C, usually reported for methane-assisted CVD. In particular, the 650–850 °C and 900 °C ranges were investigated, respectively for 5 and 30 min growth time [3, 4]. Recently, our group reported the growth of highly-crystalline, few-layer graphene by ethanol-CVD in hydrogen flow (1– 100 sccm) at high temperatures (1000–1070 °C) using growth times typical of CH4-assisted synthesis (10–30 min) [5]. Furthermore, a synthesis time between 20 and 60 s in the same conditions was explored too. In such fast growth we demonstrated that fully-formed graphene films can be grown by exposing copper foils to a low partial pressure of ethanol (up to 2 Pa) in just 20 s [6] and we proposed that the rapid growth is related to an increase of the Cu catalyst efficiency due weak oxidizing nature of ethanol. Thus, the employment of such liquid precursor, in small concentrations, together with a reduced time of growth and very low pressure leads to highly efficient graphene synthesis. By this way, the complete coverage of a copper catalyst surface with high spatial uniformity can be obtained in a considerably lower time than when using methane

Effects of Graded Dietary Inclusion Level of Full-Fat Hermetia illucens Prepupae Meal in Practical Diets for Rainbow Trout (Oncorhynchus mykiss)

This study investigated the effects of dietary inclusion levels of full-fat Hermetia illucens prepupae meal (H) on growth and gastrointestinal integrity in rainbow trout (Oncorhynchus mykiss). A 98-day study was conducted using triplicate groups of trout (initial body weight, 137 \ub1 10.5 g) kept in 1-m3 tanks in a flow-through well water system. Three dietary treatments were prepared: one based on fishmeal and purified protein-rich vegetable ingredients (H0), and two experimental diets including graded levels of H meal (25% and 50%, referred to as H25 and H50, respectively). At the end of the feeding trial, no differences were observed in growth performance and plasma metabolite levels, with the biometric data confirmed by the liver expression of the genes involved in somatic growth regulation (igf1 and mstn1a). In the H50 group, a three-fold up regulation of liver hsp70 was observed. An activation of the stress/immune response (il-10, tnf-\u3b1, and tlr-5) was observed in medium intestine in the H25 and H50 groups (p < 0.05) together with a villi length reduction detected through histological analyses. Liver histology and Fourier Transform Infrared Imaging (FTIRI) spectroscopy highlighted an increase in lipid deposition. These findings suggest that caution should be taken into account when 50% replacement of conventional ingredients with H is selected

On the CVD Growth of C Nanotubes Over Fe-Loaded Montmorillonite Catalysts

The synthesis of carbon nanotubes (CNTs) by chemical vapor deposition (CVD) of isobutane (i‐C4H10) over sodium‐exchanged K10‐montmorillonite based iron‐ catalysts is investigated. By studying the influence of iron‐addition (5–25wt%) on the catalyst performances, at 700 °C, an empirical relationship is derived relating the mass of CNTs synthesized with the exposed surface of loaded iron, as resulting from simultaneous change of number, size and dispersion of Fe‐nanoparticles available for the growth

Effects of Dietary Supplementation with Honeybee Pollen and Its Supercritical Fluid Extract on Immune Response and Fillet’s Quality of Farmed Gilthead Seabream (Sparus aurata)

The awareness of the correlation between administered diet, fish health and products’ quality has led to the increase in the research for innovative and functional feed ingredients. Herein, a plant-derived product rich in bioactive compounds, such as honeybee pollen (HBP), was includ-ed as raw (HBP) and as Supercritical Fluid Extracted (SFE) pollen (HBP_SFE) in the diet for gilt-head seabream (Sparus aurata). The experiment was carried out on 90 fish with an average body weight of 294.7 ± 12.8 g, divided into five groups, according to the administration of five diets for 30 days: control diet (CTR); two diets containing HBP at 5% (P5) and at 10% (P10) level of in-clusion; two diets containing HBP_SFE, at 0.5% (E0.5) and at 1% (E1) level of inclusion. Their ef-fects were evaluated on 60 specimens (336.2 ± 11.4 g average final body weight) considering the fish growth, the expression of some hepatic genes involved in the inflammatory response (il-1β, il-6 and il-8) through quantitative real-time PCR, and physico-chemical characterization (namely color, texture, water holding capacity, fatty acid profile and lipid peroxidation) of the fish fillets monitored at the beginning (day 0) and after 110 days of storage at −20 °C. The results obtained showed that the treatment with diet E1 determined the up-regulation of il-1β, il-6, and il-8 (p &lt; 0.05); however, this supplementation did not significantly contribute to limiting the oxidative stress. Nevertheless, no detrimental effect on color and the other physical characteristics was observed. These results suggest that a low level of HBP_SFE could be potentially utilized in aq-uaculture as an immunostimulant more than an antioxidant, but further investigation is neces-sary

Vincenzo Consolo: punto de unión entre Sicilia y España. Los treinta años de Il sorriso dell'ignoto marinaio

Con ocasión del trigésimo aniversario de la publicación de Il sorriso dell’ignoto marinaio, hemos organizado las Jornadas Internacionales Vincenzo Consolo: punto de unión entre Sicilia y España. Los treinta años de Il sorriso dell’ignoto marinaio, que se celebraron en la Universitat de València los días 23 y 24 de octubre de 2006 y cuyas Actas ofrecemos en el presente volumen monográfico. De esta manera, cerramos el ciclo de dos años dedicado a la obra de Vincenzo Consolo, ciclo que iniciamos el año anterior con unas primeras Jornadas Internacionales, Lunaria vent’anni dopo, que también organizamos en la Universitat de València los días 24 y 25 de octubre de 2005, al cumplirse el vigésimo aniversario de su obra Lunaria

Graphene-based Schottky Device Detecting NH3 at ppm level in Environmental Conditions

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Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes

Variants of SEMA6B have been identified in an increasing number of patients, often presenting with progressive myoclonus epilepsy (PME), and to lesser extent developmental encephalopathy, with or without epilepsy. The exon 17 is mainly involved, with truncating mutations causing the production of aberrant proteins with toxic gain of function. Herein, we describe three adjunctive patients carrying de novo truncating SEMA6B variants in this exon (c.1976delC and c.2086C &gt; T novel; c.1978delC previously reported). These subjects presented with PME preceded by developmental delay, motor and cognitive impairment, worsening myoclonus, and epilepsy with polymorphic features, including focal to bilateral seizures in two, and non-convulsive status epilepticus in one. The evidence of developmental delay in these cases suggests their inclusion in the “PME plus developmental delay” nosological group. This work further expands our knowledge of SEMA6B variants causing PMEs. However, the data to date available confirms that phenotypic features do not correlate with the type or location of variants, aspects that need to be further clarified by future studie

Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy

De novo variants in KCNQ2 encoding for Kv7.2 voltage-dependent neuronal potassium (K+) channel subunits are associated with developmental epileptic encephalopathy (DEE). We herein describe a the clinical and electroencephalographic (EEG) features of a child with early-onset DEE caused by the novel KCNQ2 p.G310S variant. In vitro experiments demonstrated that the mutation induces loss-of-function effects on the currents produced by channels incorporating mutant subunits; these effects were counteracted by the selective Kv7 opener retigabine and by gabapentin, a recently described Kv7 activator. Given these data, the patient started treatment with gabapentin, showing a rapid and sustained clinical and EEG improvement over the following months. Overall, these results suggest that gabapentin can be regarded as a precision therapy for DEEs due to KCNQ2 loss-of-function mutations

Growth and Welfare of Rainbow Trout (Oncorhynchus mykiss) in Response to Graded Levels of Insect and Poultry By-Product Meals in Fishmeal-Free Diets

This study compared the nutrient-energy retention, digestive function, growth performance, and welfare of rainbow trout (ibw 54 g) fed isoproteic (42%), isolipidic (24%), fishmeal-free diets (CV) over 13 weeks. The diets consisted of plant-protein replacement with graded levels (10, 30, 60%) of protein from poultry by-product (PBM) and black soldier fly H. illucens pupae (BSFM) meals, either singly or in combination. A fishmeal-based diet was also tested (CF). Nitrogen retention improved with moderate or high levels of dietary PBM and BSFM relative to CV (p &lt; 0.05). Gut brush border enzyme activity was poorly affected by the diets. Gastric chitinase was up-regulated after high BSFM feeding (p &lt; 0.05). The gut peptide and amino acid transport genes were differently regulated by protein source and level. Serum cortisol was unaffected, and the changes in metabolites stayed within the physiological range. High PBM and high BSFM lowered the leukocyte respiratory burst activity and increased the lysozyme activity compared to CV (p &lt; 0.05). The BSFM and PBM both significantly changed the relative percentage of lymphocytes and monocytes (p &lt; 0.05). In conclusion, moderate to high PBM and BSFM inclusions in fishmeal-free diets, either singly or in combination, improved gut function and nutrient retention, resulting in better growth performance and the good welfare of the rainbow trout