EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.

Efficient Degradation of Recalcitrant Pharmaceuticals in Greywater Using Treatment of MBR and Immobilized TiO Porous Layers.

Traditional wastewater treatment often fails to remove pharmaceuticals, necessitating advanced solutions, such as TiO photocatalysis, for post-treatment. However, conventionally applied powder TiO can be cumbersome to separate from treated water. To solve this issue, this study immobilized three TiO photocatalysts (Anatase 16, Anatase 5, and P25) into porous layers and evaluated their efficacy for the degradation of three pharmaceuticals (naproxen, NPX; sulfamethoxazole, SMX; metformin, MTF) in standard solutions and greywater pretreated in a membrane bioreactor (MBR).

Plasma proteomics in epilepsy: Network-based identification of proteins associated with seizures.

Purpose: Identification of potential biomarkers of seizures.

Methods: In this exploratory study, we quantified plasma protein intensities in 15 patients with recent seizures compared to 15 patients with long-standing seizure freedom. Using TMT-based proteomics we found fifty-one differentially expressed proteins.

Reconstructing blood flow in data-poor regimes: a vasculature network kernel for Gaussian process regression.

Blood flow reconstruction in the vasculature is important for many clinical applications. However, in clinical settings, the available data are often quite limited. For instance, transcranial Doppler ultrasound is a non-invasive clinical tool that is commonly used in clinical settings to measure blood velocity waveforms at several locations.

Preparation and characterisation of NH gas sensor based on nanocomposite.

was synthesised by the process. The produced powders were characterised by , , , , and tests. The sensors' function was based on with thin film deposited on top of interdigitated electrodes ().

Experimental study on a solar-powered cogeneration system for freshwater and electricity production.

In this study, a photovoltaic/thermal (PVT) collector and a stepped solar still system were constructed and integrated. The PVT collector was used to improve the performance of a stepped solar still device. Saltwater enters into the PV-T system and the temperature of the solar panel declines, and then ultimately the efficiency of the PV-T collector increases.

Combined toxic effects of polystyrene nanoplastics and lead on Chlorella vulgaris growth, membrane lipid peroxidation, antioxidant capacity, and morphological alterations.

In recent years, there has been a significant rise in the utilization of amino-functionalized polystyrene nanoplastics (PS-NH). This surge in usage can be attributed to their exceptional characteristics, including a substantial specific surface area, high energy, and strong reactivity. These properties make them highly suitable for a wide range of industrial and medical applications.

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.

encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying developmental delay, epilepsy and nonspecific brain malformations including corpus callosum hypoplasia and variable impairment of cerebellum. We sought to delineate the molecular and phenotypic spectrum of -related disorder.

Rotation-Tolerant Wireless Power Transmission Scheme with Smart Positioning for Cognitive Research on Moving Animals.

This article presents a novel wireless power transmission scheme designed for moving loads. Specifically focused on compensating for the tilt misalignment of the receiver. By utilizing phase-shifted excitation signals from an array of transmitters, the proposed scheme effectively mitigates the impact of misalignment, locally.

A New, Thorough Look on Unusual and Neglected Group III-VI Compounds Toward Novel Perusals.

The attention on group III-VI compounds in the last decades has been centered on the optoelectronic properties of indium and gallium chalcogenides. These outstanding properties are leading to novel advancements in terms of fundamental and applied science. One of the advantages of these compounds is to present laminated structures, which can be exfoliated down to monolayers.

Cellulose Triacetate-Based Mixed-Matrix Membranes with MXene 2D Filler-CO/CH Separation Performance and Comparison with TiO-Based 1D and 0D Fillers.

Mixed-matrix membranes (MMMs) possess the unique properties and inherent characteristics of their component polymer and inorganic fillers, or other possible types of additives. However, the successful fabrication of compact and defect-free MMMs with a homogeneous filler distribution poses a major challenge, due to poor filler/polymer compatibility. In this study, we use two-dimensional multi-layered Ti3C2Tx MXene nanofillers to improve the compatibility and CO2/CH4 separation performance of cellulose triacetate (CTA)-based MMMs.

CO/CH and H/CH Gas Separation Performance of CTA-TNT@CNT Hybrid Mixed Matrix Membranes.

This study explored the underlying synergy between titanium dioxide nanotube (TNT) and carbon nanotube (CNT) hybrid fillers in cellulose triacetate (CTA)-based mixed matrix membranes (MMMs) for natural gas purification. The CNT@TNT hybrid nanofillers were blended with CTA polymer and cast as a thin film by a facile casting technique, after which they were used for single gas separation. The hybrid filler-based membrane depicted a higher CO uptake affinity than the single filler (CNT/TNT)-based membrane.

Hereditary spastic paraplegia initially diagnosed as cerebral palsy.

Introduction: Spastic diplegia presenting in infancy is common to both cerebral palsy (CP) and hereditary spastic paraplegia (HSP). We report the clinical and genetic features of a cohort of Alberta patients with a diagnosis of HSP, who were initially diagnosed with CP.

Methods: Fourteen patients with an initial diagnosis of CP were identified from an Alberta registry of HSP patients via chart review.

Improved CO/CH Separation Properties of Cellulose Triacetate Mixed-Matrix Membranes with CeO@GO Hybrid Fillers.

The study of the effects associated with the compatibility of the components of the hybrid filler with polymer matrix, which ultimately decide on achieving mixed matrix membranes (MMMs) with better gas separation properties, is essential. Herein, a facile solution casting process of simple incorporating CeO@GO hybrid inorganic filler material is implemented. Significant improvements in material and physico-chemical properties of the synthesized membranes were observed by SEM, XRD, TGA, and stress-strain measurements.

The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.

Background And Objective: Pathogenic variants in KCNT1 have been associated with severe forms of epilepsy, typically sleep-related hypermotor epilepsy or epilepsy of infancy with migrating focal seizures. To show that pathogenic variants in KCNT1 can be associated with mild extra-frontal epilepsy, we report a KCNT1 family with a wide spectrum of phenotypes ranging from developmental and epileptic encephalopathy to mild focal epilepsy without cognitive regression and not consistent with sleep-related hypermotor epilepsy.

Methods: A large Canadian family of Caucasian descent including 9 affected family members was recruited.

CeO-Blended Cellulose Triacetate Mixed-Matrix Membranes for Selective CO Separation.

Due to the high affinity of ceria (CeO) towards carbon dioxide (CO) and the high thermal and mechanical properties of cellulose triacetate (CTA) polymer, mixed-matrix CTA-CeO membranes were fabricated. A facile solution-casting method was used for the fabrication process. CeO nanoparticles at concentrations of 0.

Interfacial Design of Mixed Matrix Membranes via Grafting PVA on UiO-66-NH to Enhance the Gas Separation Performance.

In this study, defect-free facilitated transport mixed matrix membrane (MMM) with high loading amount of UiO-66-NH nanoparticles as metal-organic frameworks (MOFs) was fabricated. The MOFs were covalently bonded with poly (vinyl alcohol) (PVA) to incorporate into a poly (vinyl amine) (PVAm) matrix solution. A uniform UiO-66-NH dispersion up to 55 wt.

Toxic effects of polystyrene nanoplastics on microalgae Chlorella vulgaris: Changes in biomass, photosynthetic pigments and morphology.

Presence of nanoplastics within aqueous media has raised concerns about their adverse impacts on aquatic organisms. This study evaluated toxic effects of amino-functionalized polystyrene nanoplastics (PS-NH) with diameters of 90 (PS-NH-90), 200 (PS-NH-200) and 300 (PS-NH-300) nm on green microalgae Chlorella vulgaris. A dose-dependent toxicity response by PS-NH-90 and/or PS-NH-200 on biomass and photosynthetic pigment (chlorophyll a) end-points of C.

Finite Element Method for Freezing and Thawing Industrial Food Processes.

Freezing is a well-established preservation method used to maintain the freshness of perishable food products during storage, transportation and retail distribution; however, food freezing is a complex process involving simultaneous heat and mass transfer and a progression of physical and chemical changes. This could affect the quality of the frozen product and increase the percentage of drip loss (loss in flavor and sensory properties) during thawing. Numerical modeling can be used to monitor and control quality changes during the freezing and thawing processes.

Fabrication of a PVDF membrane with tailored morphology and properties exploring and computing its ternary phase diagram for wastewater treatment and gas separation applications.

We report a simple approach for tailoring the morphology of poly(vinylidene fluoride) (PVDF) membranes fabricated using a nonsolvent induced phase separation (NIPS) method that sustains both the hydrophilic and hydrophobic properties. Various membrane structures, skin layers and whole membrane structures as well, were obtained an experimental method based on the obtained and computed ternary phase diagram. The nonsolvent interactions with polymer solution resulted in the different forms and properties of a surface layer of fabricated membranes that affected the overall transport of solvent and nonsolvent molecules inside and outside the bulk of the fabricated membranes.

Poly[3-ethyl-1-vinyl-imidazolium] diethyl phosphate/Pebax 1657 Composite Membranes and Their Gas Separation Performance.

Poly(ionic liquid)s are an innovative class of materials with promising properties in gas separation processes that can be used to boost the neat polymer performances. Nevertheless, some of their properties such as stability and mechanical strength have to be improved to render them suitable as materials for industrial applications. This work explored, on the one hand, the possibility to improve gas transport and separation properties of the block copolymer Pebax 1657 by blending it with poly[3-ethyl-1-vinyl-imidazolium] diethyl phosphate (PEVI-DEP).

mRNA and microRNA selection for breast cancer molecular subtype stratification using meta-heuristic based algorithms.

Cancer subtype stratification, which may help to make a better decision in treating cancerous patients, is one of the most crucial and challenging problems in cancer studies. To this end, various computational methods such as Feature selection, which enhances the accuracy of the classification and is an NP-Hard problem, have been proposed. However, the performance of the applied methods is still low and can be increased by the state-of-the-art and efficient methods.

Seminal plasma fractions can protect common carp (Cyprinus carpio) sperm during cryopreservation.

This study aimed to investigate the effect of fractionated seminal plasma on characteristics of common carp Cyprinus carpio cryopreserved sperm. Nanosep® centrifugal devices yielded four seminal plasma fractions with different total protein content ranging in molecular weight from less than 17 to almost 74 kDa. Each protein fraction was added to semen extender medium prior to freezing.

CoNiFeCrO spinel nanoparticles decorated with UiO-66-based metal-organic frameworks grafted onto GO and O-SWCNT for gas adsorption and water purification.

We report on the synthesis of unique nanocomposites based on graphene oxide (GO) and oxidized single-wall carbon nanotubes (O-SWCNTs) combined with UiO-66-NH and UiO-66-COOH metal-organic frameworks (MOFs) decorated onto Co5Ni·FeCrO spinel magnetic nanoparticles (SMNPs). Novel SMNPs of CoNiFeCrO synthesized for the first time by the sol-gel method, exhibited exceptional thermal stability up to 985 °C. To modify the physicochemical properties of the SMNPs and MOFs, hydrophilic Zr-based MOFs were directly decorated onto the SMNP (MOF-d-SMNP) which led to improved dispersion properties and enhanced the catalytic activity of the SMNP by providing additional functional groups and active catalytic sites, along with surface area expansion.