Publications

Context. The upcoming new generation of optical spectrographs on four-meter-class telescopes will provide valuable opportunities for forthcoming galaxy surveys through their huge multiplexing capabilities, excellent spectral resolution, and unprecedented wavelength coverage. Aims. WEAVE is a new wide-field spectroscopic facility mounted on the 4.2 m William Herschel Telescope in La Palma. WEAVE-StePS is one of the five extragalactic surveys that will use WEAVE during its first five years of operations. It will observe galaxies using WEAVE MOS (∼950 fibres distributed across a field of view of ∼3 square degrees on the sky) in low-resolution mode (R ∼ 5000, spanning the wavelength range 3660-9590 Å). Methods. WEAVE-StePS will obtain high-quality spectra (S/N ∼ 10 Å -1 at R ∼ 5000) for a magnitude-limited (IAB = 20.5) sample of ∼25 000 galaxies, the majority selected at z ≥ 0.3. The survey goal is to provide precise spectral measurements in the crucial interval that bridges the gap between LEGA-C and SDSS data. The wide area coverage of ∼25 square degrees will enable us to observe galaxies in a variety of environments. The ancillary data available in each of the observed fields (including X-ray coverage, multi-narrow-band photometry and spectroscopic redshift information) will provide an environmental characterisation for each observed galaxy. Results. This paper presents the science case of WEAVE-StePS, the fields to be observed, the parent catalogues used to define the target sample, and the observing strategy that was chosen after a forecast of the expected performance of the instrument for our typical targets. Conclusions. WEAVE-StePS will go back further in cosmic time than SDSS, extending its reach to encompass more than ∼6 Gyr. This is nearly half of the age of the Universe. The spectral and redshift range covered by WEAVE-StePS will open a new observational window by continuously tracing the evolutionary path of galaxies in the largely unexplored intermediate-redshift range.

Approximately 1.1. billion people worldwide live with some form of disability, and assistive technology has the potential to increase their overall quality of life. However, the end users’ perspective and needs are often not sufficiently considered during the development of this technology, leading to frustration and nonuse of existing devices. Since its first competition in 2016, CYBATHLON has aimed to drive innovation in the field of assistive technology by motivating teams to involve end users more actively in the development process and to tailor novel devices to their actual daily-life needs. Competition tasks therefore represent unsolved daily-life challenges for people with disabilities and serve the purpose of benchmarking the latest developments from research laboratories and companies from around the world. This review describes each of the competition disciplines, their contributions to assistive technology, and remaining challenges in the user-centered development of this technology.

Thanks to advances in gene sequencing, RYR1-related myopathy (RYR1-RM) is now known to manifest itself in vastly heterogeneous forms, whose clinical interpretation is, therefore, highly challenging. We set out to develop a novel unsupervised cluster analysis method in a large patient population. The objective was to analyze the main RYR1-related characteristics to identify distinctive features of RYR1-RM and, thus, offer more precise genotype–phenotype correlations in a group of potentially life-threatening disorders. We studied 600 patients presenting with a suspicion of inherited myopathy, who were investigated using next-generation sequencing. Among them, 73 index cases harbored variants in RYR1. In an attempt to group genetic variants and fully exploit information derived from genetic, morphological, and clinical datasets, we performed unsupervised cluster analysis in 64 probands carrying monoallelic variants. Most of the 73 patients with positive molecular diagnoses were clinically asymptomatic or pauci-symptomatic. Multimodal integration of clinical and histological data, performed using a non-metric multi-dimensional scaling analysis with k-means clustering, grouped the 64 patients into 4 clusters with distinctive patterns of clinical and morphological findings. In addressing the need for more specific genotype–phenotype correlations, we found clustering to overcome the limits of the “single-dimension” paradigm traditionally used to describe genotype–phenotype relationships.

In recent years, the integration of virtual reality (VR) technology is seeing a significant increase and has the potential to greatly impact the future of healthcare. The use of VR systems in conjunction with electroencephalography (EEG) offers new possibilities in rehabilitation scenarios. This study focuses on comparing the feasibility of using a head-mounted display (HMD) while acquiring EEG data in both semi-immersive and fully immersive environments. The impact of an Oculus Quest 2 on the frequency domain of 64-channel EEG measurements recorded on healthy subjects was investigated by performing six different tasks, including a 3D video game. Results showed statistically significant differences in beta and gamma frequency bands with and without the use of the HMD. Also, significant differences were found in the occipital brain region while playing the 3D video game with the HMD vs desktop mode due to the introduction of the immersive visual feedback. Based on our preliminary findings, future studies will test the feasibility of combining HMDs and EEG headsets before running EEG brain-computer interface studies.

EEG-based brain-machine interfaces (BMIs) offer an intuitive approach for individuals with motor impairments to control prosthetic or rehabilitation devices. Decoding movement intentions plays a vital role in accurately translating the motor execution plans of subjects, such as identifying the desired grasp type or target position. In this study, EEG signals were recorded from seven healthy subjects during self-paced reaching and grasping tasks. Power Spectral Density (PSD) and Entropy were extracted as features to assess their efficacy in discrimination between different brain states related to movement planning. Classification between anticipation of movement and resting-state periods were evaluated using machine-learning methods (Linear Discriminant Analysis, Quadratic Discriminant Analysis, and Support Vector Machines). The achieved results provide strong evidence for the feasibility of decoding movement intention, laying the foundation for future applications and advancements in the field. Attaining high accuracy in decoding movement intention holds significant potential for the translational applications of BMIs in the fields of biomedical engineering and rehabilitation.

Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype–phenotype correlation has been extensively discussed, and caution is recommended when interpreting the clinical significance of any mutation in a single patient. As there is no evidence that environmental factors can modulate the phenotype, the observed clinical variability in PD suggests that genetic variants other than pathogenic GAA mutations influence the mechanisms of muscle damage/repair and the overall clinical picture. Genes encoding proteins involved in glycogen synthesis and catabolism may represent excellent candidates as phenotypic modifiers of PD. The genes analyzed for glycogen synthesis included UGP2, glycogenin (GYG1-muscle, GYG2, and other tissues), glycogen synthase (GYS1-muscle and GYS2-liver), GBE1, EPM2A, NHLRC1, GSK3A, and GSK3B. The only enzyme involved in glycogen catabolism in lysosomes is α-glucosidase, which is encoded by GAA, while two cytoplasmic enzymes, phosphorylase (PYGB-brain, PGL-liver, and PYGM-muscle) and glycogen debranching (AGL) are needed to obtain glucose 1-phosphate or free glucose. Here, we report the potentially relevant variants in genes related to glycogen synthesis and catabolism, identified by whole exome sequencing in a group of 30 patients with late-onset Pompe disease (LOPD). In our exploratory analysis, we observed a reduced number of variants in the genes expressed in muscles versus the genes expressed in other tissues, but we did not find a single variant that strongly affected the phenotype. From our work, it also appears that the current clinical scores used in LOPD do not describe muscle impairment with enough qualitative/quantitative details to correlate it with genes that, even with a slightly reduced function due to genetic variants, impact the phenotype.

The nutraceutical supplementation of Spirulina (Arthrospira platensis) in dogs and cats has not yet been investigated. The aim of this study was to evaluate if the dietary supplementation of increasing amounts of Spirulina for 6 weeks is palatable to pets and to assess the owner’s perception of such supplementation. The owners of the 60 dogs and 30 cats that participated in this study were instructed to daily provide Spirulina tablets starting with a daily amount of 0.4 g, 0.8 g, and 1.2 g for cats as well as small dogs, medium dogs, and large dogs, respectively, and allowing a dose escalation of 2× and 3× every 2 weeks. The daily amount (g/kg BW) of Spirulina ranged from 0.08 to 0.25 for cats, from 0.06 to 0.19 for small-sized dogs, from 0.05 to 0.15 for medium-sized dogs, and from 0.04 to 0.12 for large-sized dogs. Each owner completed a questionnaire at the time of recruitment and the end of each 2-week period. No significant effect on the fecal score, defecation frequency, vomiting, scratching, lacrimation, general health status, and behavioral attitudes was detected by the owners’ reported evaluations. Most animals accepted Spirulina tablets either administrated alone or mixed with food in the bowl. Daily supplementation of Spirulina for 6 weeks in the amounts provided in this study is therefore palatable and well tolerated by dogs and cats.