Allele frequency of two intragenic microsatellite loci of SEL1L gene in Northern Italy population

Two cytosine-adenine (CA) repeats CAR/CAL and RepIN20 occur in the human SEL1L gene, which is regarded as a candidate gene for insulin-dependent diabetes mellitus (IDDM) and Grave's disease. We have characterized these repeats to determine if they might serve as effective microsatellite markers for linkage analysis to clarify whether SEL1L gene plays a role in the pathogenesis of these autoimmune diseases. The allele frequencies and average heterozygosity of the microsatellite repeats were analysed in 94 DNA samples from peripheral blood mononuclear (PBMC) cells from adults of Northern Italy. The average heterozygosity was 0.68 for CAR/CAL polymorphism and 0.85 for RepIN20. The size of PCR fragments of CAR/CAL ranged from 207\u2013225 bp and the most frequent allele was 207 bp (40.4%). The size of the fragments of RepIN20 ranged from 237\u2013255 bp and the most frequent allele was 249 bp (30.8%). In the light of the highly polymorphic nature of both microsatellites and their intragenic location in SEL1L gene, we suggest that they could provide a means for linkage analysis to clarify the potential role of SEL1L in conferring susceptibility to IDDM or Grave's disease

Monitoraggio biologico ed esposizione a silice: applicazione di nuovi indicatori di dose e di effetto

In 16 addetti alla produzione di marmi ricomposti è stato misurato Si-CAE, è stata eseguita una spirometria e sono stati dosati 8oxoGua, 8oxoGuo, 8oxodGuo, SP-A, SP-D, CC16 e HO-1. Si sono osservati valori spirometrici (FVC e FEV1) più bassi nei lavoratori rispetto ai controlli. Nei lavoratori abbiamo osservato livelli più elevati dei seguenti marcatori: Si-CAE, 8oxoGuo ed espressione di HO-1. Lo studio evidenzia che l’esposizione a silice può aumentare i livelli di Si-CAE, che può essere usato per stimare la dose al bersaglio. Infine si evidenziavano aspecifiche alterazioni spirometriche ed un aumento di biomarcatori d’effetto

Multi-step self-guided pathways for shape-changing metamaterials

Multi-step pathways, constituted of a sequence of reconfigurations, are central to a wide variety of natural and man-made systems. Such pathways autonomously execute in self-guided processes such as protein folding and self-assembly, but require external control in macroscopic mechanical systems, provided by, e.g., actuators in robotics or manual folding in origami. Here we introduce shape-changing mechanical metamaterials, that exhibit self-guided multi-step pathways in response to global uniform compression. Their design combines strongly nonlinear mechanical elements with a multimodal architecture that allows for a sequence of topological reconfigurations, i.e., modifications of the topology caused by the formation of internal self-contacts. We realized such metamaterials by digital manufacturing, and show that the pathway and final configuration can be controlled by rational design of the nonlinear mechanical elements. We furthermore demonstrate that self-contacts suppress pathway errors. Finally, we demonstrate how hierarchical architectures allow to extend the number of distinct reconfiguration steps. Our work establishes general principles for designing mechanical pathways, opening new avenues for self-folding media, pluripotent materials, and pliable devices in, e.g., stretchable electronics and soft robotics.Comment: 16 pages, 3 main figures, 10 extended data figures. See https://youtu.be/8m1QfkMFL0I for an explanatory vide

The role of Italy in the use of advanced plant breeding techniques on fruit trees: state of the art and future perspectives

Climate change is deeply impacting the food chain production, lowering quality and yield. In this context, the international scientific community has dedicated many efforts to enhancing resilience and sustainability in agriculture. Italy is among the main European producers of several fruit trees; therefore, national research centers and universities undertook several initiatives to maintain the specificity of the ‘Made in Italy’ label. Despite their importance, fruit crops are suffering from difficulties associated with the conventional breeding approaches, especially in terms of financial commitment, land resources availability, and long generation times. The ‘new genomic techniques’ (NGTs), renamed in Italy as ‘technologies for assisted evolution’ (TEAs), reduce the time required to obtain genetically improved cultivars while precisely targeting specific DNA sequences. This review aims to illustrate the role of the Italian scientific community in the use of NGTs, with a specific focus on Citrus, grapevine, apple, pear, chestnut, strawberry, peach, and kiwifruit. For each crop, the key genes and traits on which the scientific community is working, as well as the technological improvements and advancements on the regeneration of local varieties, are presented. Lastly, a focus is placed on the legal aspects in the European and in Italian context

A multi-parametric wearable system to monitor neck movements and respiratory frequency of computer workers

Musculoskeletal disorders are the most common form of occupational ill-health. Neck pain is one of the most prevalent musculoskeletal disorders experienced by computer workers. Wrong postural habits and non-compliance of the workstation to ergonomics guidelines are the leading causes of neck pain. These factors may also alter respiratory functions. Health and safety interventions can reduce neck pain and, more generally, the symptoms of musculoskeletal disorders and reduce the consequent economic burden. In this work, a multi-parametric wearable system based on two fiber Bragg grating sensors is proposed for monitoring neck movements and breathing activity of computer workers. The sensing elements were positioned on the neck, in the frontal and sagittal planes, to monitor: (i) flexion-extension and axial rotation repetitions, and (ii) respiratory frequency. In this pilot study, five volunteers were enrolled and performed five repetitions of both flexion-extension and axial rotation, and ten breaths of both quite breathing and tachypnea. Results showed the good performances of the proposed system in monitoring the aforementioned parameters when compared to optical reference systems. The wearable system is able to well-match the trend in time of the neck movements (both flexion-extension and axial rotation) and to estimate mean and breath-by-breath respiratory frequency values with percentage errors ≤6.09% and ≤1.90%, during quiet breathing and tachypnea, respectively

Sphingosine-1-phosphate signalling drives an angiogenic transcriptional programme in diffuse large B cell lymphoma

Although the over-expression of angiogenic factors is reported in diffuse large B-cell lymphoma (DLBCL), the poor response to anti-VEGF drugs observed in clinical trials suggests that angiogenesis in these tumours might be driven by VEGF-independent pathways. We show that sphingosine kinase-1 (SPHK1), which generates the potent bioactive sphingolipid sphingosine-1-phosphate (S1P), is over-expressed in DLBCL. A meta-analysis of over 2000 cases revealed that genes correlated with SPHK1 mRNA expression in DLBCL were significantly enriched for tumour angiogenesis meta-signature genes; an effect evident in both major cell of origin (COO) and stromal subtypes. Moreover, we found that S1P induces angiogenic signalling and a gene expression programme that is present within the tumour vasculature of SPHK1-expressing DLBCL. Importantly, S1PR1 functional antagonists, including Siponimod, and the S1P neutralising antibody, Sphingomab, inhibited S1P signalling in DLBCL cells in vitro. Furthermore, Siponimod, also reduced angiogenesis and tumour growth in an S1P-producing mouse model of angiogenic DLBCL. Our data define a potential role for S1P signalling in driving an angiogenic gene expression programme in the tumour vasculature of DLBCL and suggest novel opportunities to target S1P-mediated angiogenesis in patients with DLBCL