Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families. Many factors make LSD diagnosis difficult, including phenotype and penetrance variability, shared signs and symptoms, and problems inherent to biochemical diagnosis. Developing a powerful diagnostic tool could mitigate the protracted diagnostic process for these families, lead to better outcomes for current and proposed therapies, and provide the basis for more appropriate genetic counseling. METHODS: We have designed a targeted resequencing assay for the simultaneous testing of 57 lysosomal genes, using in-solution capture as the enrichment method and two different sequencing platforms. A total of 84 patients with high to moderate-or low suspicion index for LSD were enrolled in different centers in Spain and Portugal, including 18 positive controls. RESULTS: We correctly diagnosed 18 positive blinded controls, provided genetic diagnosis to 25 potential LSD patients, and ended with 18 diagnostic odysseys. CONCLUSION: We report the assessment of a next-generation-sequencing-based approach as an accessory tool in the diagnosis of LSDs, a group of disorders which have overlapping clinical profiles and genetic heterogeneity. We have also identified and quantified the strengths and limitations of next generation sequencing (NGS) technology applied to diagnosis

Singular Cucker-Smale Dynamics

The existing state of the art for singular models of flocking is overviewed, starting from microscopic model of Cucker and Smale with singular communication weight, through its mesoscopic mean-filed limit, up to the corresponding macroscopic regime. For the microscopic Cucker-Smale (CS) model, the collision-avoidance phenomenon is discussed, also in the presence of bonding forces and the decentralized control. For the kinetic mean-field model, the existence of global-in-time measure-valued solutions, with a special emphasis on a weak atomic uniqueness of solutions is sketched. Ultimately, for the macroscopic singular model, the summary of the existence results for the Euler-type alignment system is provided, including existence of strong solutions on one-dimensional torus, and the extension of this result to higher dimensions upon restriction on the smallness of initial data. Additionally, the pressureless Navier-Stokes-type system corresponding to particular choice of alignment kernel is presented, and compared - analytically and numerically - to the porous medium equation

Hydrodynamics of fossil fishes

Fromtheir earliest origins, fishes have developed a suite of adaptations for locomotion in water, which determine performance and ultimately fitness. Even without data from behaviour, soft tissue and extant relatives, it is possible to infer a wealth of palaeobiological and palaeoecological information. As in extant species, aspects of gross morphology such as streamlining, fin position and tail type are optimized even in the earliest fishes, indicating similar life strategies have been present throughout their evolutionary history. As hydrodynamical studies become more sophisticated, increasingly complex fluid movement can be modelled, including vortex formation and boundary layer control. Drag-reducing riblets ornamenting the scales of fast-moving sharks have been subjected to particularly intense research, but this has not been extended to extinct forms. Riblets are a convergent adaptation seen in many Palaeozoic fishes, and probably served a similar hydrodynamic purpose. Conversely, structures which appear to increase skin friction may act as turbulisors, reducing overall dragwhile serving a protective function. Here,we examine the diverse adaptions that contribute to drag reduction in modern fishes and review the few attempts to elucidate the hydrodynamics of extinct forms

Improved eV-scale sterile-neutrino constraints from the second KATRIN measurement campaign

Artículo escrito por un elevado número de autores, solo se referencian el que aparece en primer lugar, el nombre del grupo de colaboración, si le hubiere, y los autores pertenecientes a la UAMWe present the results of the light sterile neutrino search from the second Karlsruhe Tritium Neutrino (KATRIN) measurement campaign in 2019. Approaching nominal activity, 3.76 × 106 tritium β-electrons are analyzed in an energy window extending down to 40 eV below the tritium end point at E0 = 18.57 keV. We consider the 3ν + 1 framework with three active and one sterile neutrino flavors. The analysis is sensitive to a fourth mass eigenstate m42 ≲ 1600 eV2 and active-to-sterile mixing |Ue4|2 ≳ 6 × 10-3. As no sterile-neutrino signal was observed, we provide improved exclusion contours on m42 and |Ue4|2 at 95% C.L. Our results supersede the limits from the Mainz and Troitsk experiments. Furthermore, we are able to exclude the large Δm412 solutions of the reactor antineutrino and gallium anomalies to a great extent. The latter has recently been reaffirmed by the BEST Collaboration and could be explained by a sterile neutrino with large mixing. While the remaining solutions at small Δm412 are mostly excluded by short-baseline reactor experiments, KATRIN is the only ongoing laboratory experiment to be sensitive to relevant solutions at large Δm412 through a robust spectral shape analysi

Digital skills, ICTs and students’ needs: a case study in social work degree, University of Zaragoza (Aragón-Spain)

Technological innovations are related to information and communication technologies (ICTs), which in turn have become a fundamental pillar in the field of education. Social work professionals require new approaches to take on the new type of work demanded by the digital society, specializing in research into the innovation of these new forms of action through technology. This article analyses whether university training is in tune with the new skills and abilities required for professional interventions in the twenty-first century. A total of 288 surveys were carried out on 309 students. Each survey consisted of 25 questions on the five digital skills areas. The results indicate that training in digital skills must gain space in university training plans, just as the pandemic became a starting point for the massive use of ICTs. The conclusions point to the importance of improving training in digital competences and skills for future generations of social workers, who, although they are digital natives, will need to know how to use ICTs in their social work

Multi-view gait recognition on curved

Appearance changes due to viewing angle changes cause difficulties for most of the gait recognition methods. In this paper, we propose a new approach for multi-view recognition, which allows to recognize people walking on curved paths. The recognition is based on 3D angular analysis of the movement of the walking human. A coarse-to-fine gait signature represents local variations on the angular measurements along time. A Support Vector Machine is used for classifying, and a sliding temporal window for majority vote policy is used to smooth and reinforce the classification results. The proposed approach has been experimentally validated on the publicly available “Kyushu University 4D Gait Database”

The AVA Multi-View Dataset for Gait Recognition

In this paper, we introduce a new multi-view dataset for gait recognition. The dataset was recorded in an indoor scenario, using six convergent cameras setup to produce multi-view videos, where each video depicts a walking human. Each sequence contains at least 3 complete gait cycles. The dataset contains videos of 20 walking persons with a large variety of body size, who walk along straight and curved paths. The multi-view videos have been processed to produce foreground silhouettes. To validate our dataset, we have extended some appearance-based 2D gait recognition methods to work with 3D data, obtaining very encouraging results. The dataset, as well as camera calibration information, is freely available for research purpose

Entropy Volumes for Viewpoint Independent Gait Recognition

Gait as biometrics has been widely used for human identi cation. However, direction changes cause di culties for most of the gait recognition systems, due to appearance changes. This study presents an e cient multi-view gait recognition method that allows curved trajectories on completely unconstrained paths for in- door environments. Our method is based on volumet- ric reconstructions of humans, aligned along their way. A new gait descriptor, termed as Gait Entropy Vol- ume (GEnV), is also proposed. GEnV focuses on cap- turing 3D dynamical information of walking humans through the concept of entropy. Our approach does not require the sequence to be split into gait cycles. A GEnV based signature is computed on the basis of the previous 3D gait volumes. Each signature is clas- si ed by a Support Vector Machine, and a majority voting policy is used to smooth and reinforce the clas- si cations results. The proposed approach is experimen- tally validated on the \AVA Multi-View Gait Dataset (AVAMVG)" and on the \Kyushu University 4D Gait Database (KY4D)". The results show that this new ap- proach achieves promising results in the problem of gait recognition on unconstrained paths

Linseed oil gelled emulsion: a successful fat replacer in dry fermented sausages

Different levels of animal fat replacement by a high omega-3 content carrageenan gelled emulsion in dry fermented sausages were studied in order to improve their fatty acid composition. Percentages of fat replacement were 26.3% (SUB1), 32.8% (SUB2) and 39.5% (SUB3). α-linolenic acid (ALA) content increased up to 1.81, 2.19 and 2.39g/100g (SUB1, SUB2, and SUB3 products) as compared to the Control (0.35g/100g), implying an increment in polyunsaturated fatty acids (PUFA) supply (up to 10.3%) and reductions in omega-6/ omega-3 ratio (75, 82 and 84%, respectively). Peroxides and TBARs values were not affected (P>0.05) by the fat modification and a slight low formation of volatile aldehydes derived from lipid oxidation was detected. Fat replacement did not cause relevant modifications on the instrumental color properties and no sensory differences (P>0.05) were found between Control and SUB2 products (32.8%) for taste and juiciness, pointing out the viability of this formulation for human consumption

A novel approach to monitor the oxidation process of different types of heated oils by using chemometric tools

The oxidative stability of seven oils with different fatty acid profiles was assessed. Oxidation at 0, 2 and 4 h at 180 °C was monitored by measuring the absorbance of thiobarbituric acid reactive substances (TBARS) along the absorption spectrum (300–600 nm), the volatile aldehydes (HS-SPME–GC–MS) and the fatty acid profile (FID-GC). TBARS absorption spectrum behavior depended on the lipid composition of heated oils. Higher absorbance increments during heating were noticed at 390 nm compared to 532 nm (from 2 to 21 fold higher depending on the oil), pointing to its better sensitivity to detect oxidation. Furthermore, a close relationship between ABS390, the loss of polyunsaturated fatty acids and their corresponding oxidation compounds (volatile aldehydes) was revealed by Principal Component Analysis. Multiparametric equations allowed predicting the formation of volatile aldehydes of heated oils by measuring only two parameters: TBARS390 during their heating, and the lipid profile in unheated oils (MUFA, ω-3 and ω-6). Results pointed out the interest of choosing ABS390 when the oxidative evolution of vegetable oils under heating is assessed by the TBARS test