Association between spondylolisthesis and L5 fracture in patients with osteogenesis imperfecta

To investigate if an association between spondylolisthesis and L5 fracture occurs in patients affected by Osteogenesis Imperfecta (O.I.). Methods Anteroposterior and lateral radiograms were performed on the sample (38 O.I. patients, of whom 19 presenting listhesis); on imaging studies spondylolisthesis was quantified according to the Meyerding classification. Genant’s semiquantitative classification was applied on lateral view to evaluate the L5 fractures; skeleton spinal morphometry (MXA) was carried out on the same images to collect quantitative data comparable and superimposable to Genant’s classification. The gathered information were analyzed through statistical tests (O.R., χ 2 test, Fisher’s test, Pearson’s correlation coefficient). Results The prevalence of L5 fractures is 73.7 % in O.I. patients with spondylolisthesis and their risk of experiencing such a fracture is twice than O.I. patients without listhesis (OR 2.04). Pearson’s χ 2 test demonstrates an association between L5 spondylolisthesis and L5 fracture, especially with moderate, posterior fractures (p = 0.017) and primarily in patients affected by type IV O.I. Conclusions Spondylolisthesis represents a risk factor for the development of more severe and biconcave/posterior type fractures of L5 in patients suffering from O.I., especially in type IV. This fits the hypothesis that the anterior sliding of the soma of L5 alters the dynamics of action of the load forces, localizing them on the central and posterior heights that become the focus of the stress due to movement of flexion–extension and twisting of the spine. As a result, there is greater probability of developing an important subsidence of the central and posterior walls of the soma

Isolated olecranon fractures in children affected by osteogenesis imperfecta type I treated with single screw or tension band wiring system: outcomes and pitfalls in relation to bone mineral density

The purpose of this study is to compare the results of 2 techniques, tension band wiring (TBW) and fixation with screws, in olecranon fractures in children affected with osteogenesis imperfecta (OI) type I. Between 2010 and 2014, 21 olecranon fractures in 18 children with OI (average age: 12 years old) were treated surgically. Ten patients were treated with the screw fixation and 11 with TBW. A total of 65% of olecranon fractures occurred as a result of a spontaneous avulsion of the olecranon during the contraction of the triceps muscle. The average follow-up was 36 months. Among the children treated with 1 screw, 5 patients needed a surgical revision with TBW due to a mobilization of the screw. In this group, the satisfactory results were 50%. In patients treated with TBW, the satisfactory results were 100% of the cases. The average Z-score, the last one recorded in the patients before the trauma, was -2.53 in patients treated with screw fixation and -2.04 in those treated with TBW. TBW represents the safest surgical treatment for patients suffering from OI type I, as it helps to prevent the rigidity of the elbow through an earlier recovery of the range of motion, and there was no loosening of the implant. In analyzing the average Z-score before any fracture, the fixation with screws has an increased risk of failure in combination with low bone mineral density

Accelerating the development of heat tolerant tomato hybrids through a multi-traits evaluation of parental lines combining phenotypic and genotypic analysis

The constitution of heat tolerant F1 hybrids is a challenge to ensure high yield and good fruit quality in the global climate. In the present work, we evaluated 15 genotypes for yield-related traits highly affected by high temperatures (HT). This phenotypic analysis allowed to identify four parental genotypes showing promising yield performances under HT conditions. Two of these genotypes also exhibited good fruit quality traits. A molecular marker analysis was carried out for six resistance genes to pathogens mostly affecting tomatoes. This analysis evidenced the presence of a maximum of three resistant alleles in parental genotypes. Exploring single nucleotide polymorphisms (SNPs) revealed by two high-throughput genotyping platforms allowed identifying additional 12 genes potentially involved in resistance to biotic stress, to be further investigated. Following these considerations, 13 F1 hybrids were constituted combining the parental genotypes and then evaluated for multiple traits under HT conditions. By estimating a hybrid index based on yield performances, desirable quality and resistance gene, we identified seven hybrids showing the best performances. The promising results obtained in the present work should be confirmed by evaluating the best hybrids selected for additional years and environments before proposing them as novel commercial hybrids that could maintain high performances under HT conditions

Genomic dissection of a wild region in a superior Solanum pennellii introgression sub‐line with high ascorbic acid accumulation in tomato fruit

The Solanum pennellii introgression lines (ILs) have been exploited to map quantitative trait loci (QTLs) and identify favorable alleles that could improve fruit quality traits in tomato varieties. Over the past few years, ILs exhibiting increased content of ascorbic acid in the fruit have been selected, among which the sub‐line R182. The aims of this work were to identify the genes of the wild donor S. pennellii harbored by the sub‐line and to detect genes controlling ascorbic acid accumulation by using genomics tools. A Genotyping‐By‐Sequencing (GBS) approach confirmed that no wild introgressions were present in the sub‐line besides one region on chromosome 7. By using a dense single nucleotide polymorphism (SNP) map obtained by RNA sequencing (RNA‐ Seq), the wild region of the sub‐line was finely identified; thus, defining 39 wild genes that replaced 33 genes of the ILs genetic background (cv. M82). The differentially expressed genes mapping in the region and the variants detected among the cultivated and the wild alleles evidenced the potential role of the novel genes present in the wild region. Interestingly, one upregulated gene, annotated as a major facilitator superfamily protein, showed a novel structure in R182, with respect to the parental lines. These genes will be further investigated using gene editing strategies

Lethal Mutagenesis of Poliovirus Mediated by a Mutagenic Pyrimidine Analogue

Lethal mutagenesis is the mechanism of action of ribavirin against poliovirus (PV) and numerous other RNA viruses. However, there is still considerable debate regarding the mechanism of action of ribavirin against a variety of RNA viruses. Here we show by using T7 RNA polymerase mediated production of PV genomic RNA, PV polymerase-catalyzed primer extension and cell-free PV synthesis that a pyrimidine ribonucleoside triphosphate analogue (rPTP) with ambiguous basepairing capacity is an efficient mutagen of the PV genome. The in vitro incorporation properties of rPTP are superior to ribavirin triphosphate. We observed a log-linear relationship between virus titer reduction and the number of rPMP molecules incorporated. A PV genome encoding a high-fidelity polymerase was more sensitive to rPMP incorporation, consistent with diminished mutational robustness of high-fidelity PV. The nucleoside (rP) did not exhibit antiviral activity in cell culture owing to the inability of rP to be converted to rPMP by cellular nucleotide kinases. rP was also a poor substrate for herpes simplex virus thymidine kinase. The block to nucleoside phosphorylation could be bypassed by treatment with the P nucleobase, which exhibited both antiviral activity and mutagenesis, presumably a reflection of rP nucleotide formation by a nucleotide salvage pathway. These studies provide additional support for lethal mutagenesis as an antiviral strategy, suggest that rPMP prodrugs may be highly efficacious antiviral agents, and provide a new tool to determine the sensitivity of RNA virus genomes to mutagenesis as well as interrogation of the impact of mutational load on the population dynamics of these viruses

Lethal Mutagenesis of Picornaviruses with N-6-Modified Purine Nucleoside Analogues

RNA viruses exhibit extraordinarily high mutation rates during genome replication. Nonnatural ribonucleosides that can increase the mutation rate of RNA viruses by acting as ambiguous substrates during replication have been explored as antiviral agents acting through lethal mutagenesis. We have synthesized novel N-6-substituted purine analogues with ambiguous incorporation characteristics due to tautomerization of the nucleobase. The most potent of these analogues reduced the titer of poliovirus (PV) and coxsackievirus (CVB3) over 1,000-fold during a single passage in HeLa cell culture, with an increase in transition mutation frequency up to 65-fold. Kinetic analysis of incorporation by the PV polymerase indicated that these analogues were templated ambiguously with increased efficiency compared to the known mutagenic nucleoside ribavirin. Notably, these nucleosides were not efficient substrates for cellular ribonucleotide reductase in vitro, suggesting that conversion to the deoxyriboucleoside may be hindered, potentially limiting genetic damage to the host cell. Furthermore, a high-fidelity PV variant (G64S) displayed resistance to the antiviral effect and mutagenic potential of these analogues. These purine nucleoside analogues represent promising lead compounds in the development of clinically useful antiviral therapies based on the strategy of lethal mutagenesis

First outbreak of Pepper vein yellows virus infecting sweet pepper in Italy

Sweet pepper (Capsicum annum) is an economically important crop worldwide, including Sicily where about 4,000 hectares are grown each year. In October 2015, severe symptoms not previously reported by growers in the horticultural area of the province of Trapani (Sicily, Italy) were observed on sweet pepper plants in eight different greenhouses. Symptoms included upward leaf curling, internodal shortening and interveinal yellowing. Symptoms were more evident in the upper part of the plants. These symptoms were reminiscent of those caused by poleroviruses. In the greenhouse, symptoms were evident in about 35% of the plants. Three samples per greenhouse (24 in total) were collected for analysis

The effect of a startle-based warning, age, sex, and secondary task on takeover actions in critical autonomous driving scenarios

Introduction: In highly autonomous driving scenarios, it is critical to identify strategies to accelerate reaction times since drivers may take too long to take over control of the vehicle. Previous studies reported that an Acoustic Startling Pre-Stimulus (ASPS, i.e., a loud warning preceding an action) accelerated reaction times in simple ankle flexion exercises.Methods: In this study, we examined if an ASPS warning leads to shorter takeover reaction times in a sled-simulated evasive swerving maneuver. Twenty-eight participants (seven male adults, seven male teenagers, seven female adults, and seven female teenagers) were instructed to align a marker on the steering wheel with a marker on a lateral post as fast as they could as soon as the lateral sled perturbation (0.75 g) started. Four conditions were examined: with and without an ASPS (105 dB, played 250 ms before sled perturbation for 40 ms), and with and without a secondary task (i.e., texting). A catch trial (ASPS only) was used to minimize anticipation. Human kinematics were captured with an 8-camera 3D motion capture system.Results: Results showed that the drivers’ hands lifted towards the steering wheel more quickly with the ASPS (169 ± 55 ms) than without (194 ± 46 ms; p = 0.01), and that adult drivers touched the steering wheel quicker with the ASPS (435 ± 54 ms) than without (470 ± 33 ms; p = 0.01). Similar findings were not observed for the teen drivers. Additionally, female drivers were found to lift their hands towards the steering wheel faster than male drivers (166 ± 58 ms vs. 199 ± 36 ms; p = 0.009).Discussion: Our findings suggest that the ASPS may be beneficial to accelerate driver reaction times during the initiation of a correction maneuver, and that autonomous vehicle warnings may need to be tailored to the age and sex of the driver

Angiogenesis in hand chondroma: an immunohistochemical study.

Hand chondroma is a particular cartilagineous tumour, being clinically benign, but morphologically malignant. This study investigates the expression of VEGF together with other growth factors and proliferation markers such as TGF&bT2, Ki-67, TNF, FGF1, P53 in 8 cases of hand chondroma treated with courettage, in order to define the ethiopathogenesis of this tumour and the clinical significance of the resulting immunohistochemical profile, with particular respect to angiogenesis. VEGF was expressed in all cases; 5 cases were positive for TFGβ2 and 3 for PDGF. None of the other factors was expressed. On the basis of histologic results a specific model of tumour progression based on the indicators of angiogenesis could be related to hand tumours, in which VEGF expression should be the first stadium of the tumour aggressiveness, and the following PDGF, TGF 2 expression should be accompanied with a morphological outline worsening. Nevertheless the non constant expression of these indicators and the absent expression of proliferated indicators can explain the scant tendency to the relapse in presence of accurate curettage. It is important to remember that the cellular polymorphism typical of the cartilaginous tumours does not allow the application of an only oncogenesis model

Bresaola made from Cinisara cattle: effect of muscle type and animal category on physicochemical and sensory traits

The physicochemical characteristics and sensory traits of Cinisara bresaola were investigated, to explore a new commercial opportunity for autochthonous dairy cattle farms. Semimembranosus, Semitendinosus and Biceps brachii muscles, from adult cows (AC) and grazing (GB) or housed (HB) young bulls of Cinisara breed, were processed to made bresaola. Differences due to animal category and muscle type were observed. Bresaola from AC was richer in fat and volatile organic compounds. The bresaola from Semitendinosus showed higher colorimetric parameters, fat and, when from grazing animals, Warner-Bratzler shear force than those made from other muscles. In general, all bresaola were well appreciated. The principal component analysis performed using selected physicochemical and sensory traits was able to discriminate bresaola produced from different animal categories, effect of muscle type was relevant only for AC. These results evidenced the possibility to obtain bresaola from the meat of different animal categories, comparable for sensory properties and appreciable by consumers.El presente estudio se propuso investigar las características fisicoquímicas y los rasgos sensoriales de la bresaola de ganado Cinisara, con el propósito de explorar nuevas oportunidades comerciales para las granjas autóctonas de ganado lechero. Con el fin de elaborar la carne bresaola se procesaron los músculos Semimembranosus, Semitendinosus y Biceps brachii de vacas adultas (AC), de toros jóvenes que pastan (GB) y de toros jóvenes confinados (HB) de la raza Cinisara. El estudio constató la existencia de diferencias atribuibles a la categoría de los animales, así como al tipo de músculo empleado. La bresaola de AC resultó ser más rica en grasa y compuestos orgánicos volátiles. La bresaola de Semitendinosus mostró parámetros colorimétricos más intensos, mayor contenido de grasa y, cuando provenía de animales de pastoreo, [mayor] fuerza de cizallamiento de WarnerBratzler que las bresaolas elaboradas con otros músculos. En general, todas las bresaolas fueron bastante apreciadas. El análisis de los componentes principales, realizado utilizando rasgos fisicoquímicos y sensoriales seleccionados, fue capaz de discriminar la bresaola producida a partir de diferentes categorías de animales; el efecto del tipo de músculo sólo fue evidente en el caso de las AC. Estos resultados ponen de manifiesto la posibilidad de obtener varias bresaolas a partir de carne de diferentes categorías de animales, las cuales son comparables por sus propiedades sensoriales. Todas ellas son apreciadas por los consumidores