Exploring the potential of cryo-FESEM for the taxonomic study of aquatic microcrustaceans: Bathynellacea (Crustacea, Malacostraca) as an example.

The taxonomic study of microcrustaceans is a time consuming and challenging endeavor, which has slowed the rate of new discoveries, and in turn knowledge on, global aquatic biodiversity. To facilitate the study of these small organisms, new applications continually need to be explored. Here, we assess the potential use of environmental scanning electron microscopy (ESEM) techniques, specifically cryo-field emission SEM (cryo-FESEM), for taxonomic descriptions of microcrustaceans.

Differential diagnosis and comparison of diagnostic algorithms in children and adolescents with autoimmune encephalitis in Spain: a prospective cohort study and retrospective analysis.

Background: The usefulness of current diagnostic approaches in children with suspected autoimmune encephalitis is unknown. We aimed to assess the diagnosis of autoimmune encephalitis in clinical practice and to compare the performance of two international diagnostic algorithms (one intended for patients of any age [general], the other intended for paediatric patients), with particular emphasis on the evaluation of patients with probable antibody-negative autoimmune encephalitis because this diagnosis suggests that immunotherapy should be continued or escalated but is difficult to establish.

Methods: We did a prospective cohort study that included all patients (<18 years of age) with suspected autoimmune encephalitis recruited at 40 hospitals in Spain whose physicians provided clinical information every 6 months for 2 years or more.

Experimental Assessment of Corrosion Properties for Materials Intended for Heavy Crude Processing.

Heavy crude oil processing presents significant challenges owing to its complex composition and requirement for processing conditions, which increase the process safety risk in crude processing units, such as fixed equipment, for instance pressure vessels and pipes. The aim of this work is to evaluate the influence of heavy crude oils named A and B and the effect of sulfur-rich compounds and organic acids on the performance at high temperatures of three metallic alloys (5Cr-1/2Mo/ASTM A335GP5, X6CrNiMoTi17122/AISI-SAE 316Ti and Ni66.5Cu31.

The first report of Bathynellacea in the subterranean water of Mongolia: A new species of Camacho, 2020 (Crustacea, Bathynellidae).

Background: We report the first finding of Bathynellacea, discovered in Mongolia. We also report a new species of the genus Camacho, 2020, which was previously recorded only in the western edge of Russia.

New Information: sp.

Cost-effective fully 3D-printed on-drop electrochemical sensor based on carbon black/polylactic acid: a comparative study with screen-printed sensors in food analysis.

3D-printing technology allows scientist to fabricate easily electrochemical sensors. Until now, these sensors were designed employing a large amount of material, which increases the cost and decreases manufacturing throughput. In this work, a low-cost 3D-printed on-drop electrochemical sensor (3D-PES) was fully manufactured by fused filament fabrication, minimizing the number of printing layers.

Bilateral stringhalt associated with Hypochaeris radicata in Uruguayan horses.

We reported thirteen cases of bilateral stringhalt associated with Hypochaeris radicata that occurred in horses in Uruguay during a severe drought in the summer of 2023. All horses were affected chronically and progressively by bilateral hyperflexion of hindlimbs. In two severely affected horses, the main histological lesions included neuronal chromatolysis and axonal spheroids in the ventral gray horn in the lumbar and sacral spinal cord and axonal degeneration and digestion chambers in ventral roots fibers and long peripheral nerves.

Developmental outcome of electroencephalographic findings in encephalopathy.

haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals.

Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.

We report the cases of two Spanish pediatric patients with hypotonia, muscle weakness and feeding difficulties at birth. Whole-exome sequencing (WES) uncovered two new homozygous VAMP1 (Vesicle Associated Membrane Protein 1) splicing variants, NM_014231.5:c.

A case of hypocholesterolemia under study.

Primary hypocholesterolemia (or hypobetalipoproteinemia) is a rare disorder of lipoprotein metabolism that may be due to a polygenic predisposition or a monogenic disease. Among these, it is possible to differentiate between symptomatic and asymptomatic forms, in which, in the absence of secondary causes, the initial clinical suspicion is plasma ApoB levels below the 5th percentile of the distribution by age and sex. Here we describe the differential diagnosis of a case of asymptomatic hypocholesterolemia.

N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.

N-type voltage-gated calcium channel controls the release of neurotransmitters from neurons. The association of other voltage-gated calcium channels with epilepsy is well-known. The association of N-type voltage-gated calcium channels and pain has also been established.

Role of lipoprotein lipase activity measurement in the diagnosis of familial chylomicronemia syndrome.

Background: Activity assays for lipoprotein lipase (LPL) are not standardised for use in clinical settings.

Objective: This study sought to define and validate a cut-off points based on a ROC curve for the diagnosis of patients with familial chylomicronemia syndrome (FCS). We also evaluated the role of LPL activity in a comprehensive FCS diagnostic workflow.

Therapeutic Decision-Making Under Uncertainty in the Management of Spinal Muscular Atrophy: Results From DECISIONS-SMA Study.

Introduction: There are many uncertainties about treatment selection and expectations regarding therapeutic goals and benefits in the new landscape of spinal muscular atrophy (SMA). Our aim was to assess treatment preferences and expectations of pediatric neurologists caring for patients with SMA.

Methods: DECISIONS-SMA is a non-interventional, cross-sectional pilot study that assessed pediatric neurologists with expertise in SMA from across Spain.

CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

Epilepsy is a neurological disorder that affects more than 50 million people. Its etiology is unknown in approximately 60% of cases, although the existence of a genetic factor is estimated in about 75% of these individuals. Hundreds of genes involved in epilepsy are known, and their number is increasing progressively, especially with next-generation sequencing techniques.

Mechanical Thrombectomy for Acute Stroke in a 2-Month-Old Patient and Review of the Literature in Infancy.

Mechanical thrombectomy (MT) in pediatric stroke is supported by studies in adults, but there is controversy regarding younger patients. The main growth of intracranial vessels occurs up to 2 years when there can be more difficulties in MT.Description of the MT performed in a 2-month-old patient-the youngest infant published to date.

Selection of Die Material and Its Impact on the Multi-Material Extrusion of Bimetallic AZ31B-Ti6Al4V Components for Aeronautical Applications.

This paper investigates the effect that the selection of the die material generates on the extrusion process of bimetallic cylindrical billets combining a magnesium alloy core (AZ31B) and a titanium alloy sleeve (Ti6Al4V) of interest in aeronautical applications. A robust finite element model is developed to analyze the variation in the extrusion force, damage distribution, and wear using different die materials. The results show that die material is a key factor to be taken into account in multi-material extrusion processes.

Special Issue of the Manufacturing Engineering Society 2020 (SIMES-2020).

The Special Issue of the Manufacturing Engineering Society 2020 (SIMES-2020) has been launched as a joint issue of the journals "" and " ". The 17 contributions published in this Special Issue of Materials present cutting-edge advances in the field of Manufacturing Engineering, focusing on additive manufacturing and 3D printing; advances and innovations in manufacturing processes; sustainable and green manufacturing; manufacturing of new materials; manufacturing systems: machines, equipment and tooling; robotics, mechatronics and manufacturing automation; metrology and quality in manufacturing; Industry 4.0; design, modeling and simulation in manufacturing engineering.

Anxiety and Social Support as Predictors of Student Academic Motivation During the COVID-19.

In this study we examined whether parents' perceptions of students' anxiety as well as perceived support from both teachers and classmates were predictive of changes in students' academic motivation during the first wave of COVID-19. To this end, we used a retrospective pretest-posttest design together with a latent change score model to analyze our data. From April to May of 2020, 394 Portuguese parents of students in grades 1-9 participated in this study.

Relations among motivation, behaviour, and performance in writing: A multiple-group structural equation modeling study.

Background: Writing is a particularly demanding activity, which poses unique motivational challenges for students. Despite the wealth of research on the relation between writing motivation and writing performance, little is known about the role of students' writing frequency in writing motivation and writing performance.

Aims: We aimed to: (1) examine structural relations among two motivational variables (i.

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.

Eyelid myoclonia with absences (EMA), also known as Jeavons syndrome (JS) is a childhood onset epileptic syndrome with manifestations involving a clinical triad of absence seizures with eyelid myoclonia (EM), photosensitivity (PS), and seizures or electroencephalogram (EEG) paroxysms induced by eye closure. Although a genetic contribution to this syndrome is likely and some genetic alterations have been defined in several cases, the genes responsible for have not been identified. In this review, patients diagnosed with EMA (or EMA-like phenotype) with a genetic diagnosis are summarized.

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.

Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the clinical relevance of de novo mutations to the aetiology of ASD has been demonstrated. Current guidelines recommend chromosomal microarray (CMA) and a testing as first-tier tests, but there is increasing evidence that support the use of NGS for the diagnosis of NDDs.

Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations.

Holt-Oram syndrome (HOS) is a rare disorder characterized by cardiac and upper-limb defects. Pathogenic variants in TBX5-a gene encoding a transcription factor important for heart and skeletal development-are the only known cause of HOS. Here, we present the identification and functional analysis of two novel TBX5 pathogenic variants found in two individuals with HOS presenting distinct phenotypes.