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This study focused on testing Artemia sp. zooplankton saturation with freshwater microalgae biomass and then using this method to correct the nutritional composition of Artemia. Accordingly, the influence of three species of microalgal monocultures was analyzed (2 freshwater – Desmodesmus armatus (Chod.) Hegew. and Chlorella vulgaris Veijerinck; one halophilous – Dunaliella viridis Teodor.). The algal monocultures were applied once in a quantity of 2-3 × 106 cells × l−1 for each 200,000 Artemia individuals hatched. The control group Artemia did not receive algae. The enrichment process lasted 24 h, and control measurements were performed every 6 h. The survival of Artemia nauplii, their proteolytic activity, and the content of proteins, lipids, and carotenoids were analyzed. The choice of algae species for Artemia enrichment was guided by the size of the algal cells and their biochemical composition. Selected algae contained about 50% protein, 20% lipid, and 12 mg of carotenoids per g of dry weight. Using algae to saturate the Artemia nauplii permitted reducing their mortality during the 24 h enrichment regime. The introduction of C. vulgaris biomass halved this value. The use of algae also increased the proteolytic activity in Artemia nauplii and the content of proteins, lipids, and carotenoids in their biomass. The best results of the bioencapsulation of Artemia nauplii with algae was with the C. vulgaris biomass.

Background: Schizophrenia is considered a chronic and disabling mental disorder that affects approximately one percent of the world’s population. It is characterized by a variable course and its various symptoms may predominate depending on the characteristics of the person. Aim: Recognition of the personality traits and styles of stress-coping applied by healthy people and people diagnosed with schizophrenia. Methods: The study examined 60 people in total: 30 healthy people between 19 and 58 years old and29 people diagnosed with schizophrenia and 1 person with schizophrenia spectrum disorder between 25 and 72 years old. In the present study we used Personality inventory NEO-FFI by Paul Costa and Robert McCreae, designed to diagnose personality traits described in the five-factor model called “The Big Five” and CISS: Coping Inventory for Stressful Situations by N.S. Endler, J.D.A. Parker, designed to diagnose stress-coping styles.

Heterozygosity for missense variants and small in-frame deletions in GARS1 has been reported in patients with a range of genetic neuropathies including Charcot-Marie-Tooth disease type 2D (CMT2D), distal hereditary motor neuropathy type V (dHMN-V), and infantile spinal muscular atrophy (iSMA). We identified two unrelated patients who are each heterozygous for a previously unreported missense variant modifying amino-acid position 336 in the catalytic domain of GARS1. One patient was a 20-year-old woman with iSMA, and the second was a 41-year-old man with CMT2D. Functional studies using yeast complementation assays support a loss-of-function effect for both variants; however, this did not reveal variable effects that might explain the phenotypic differences. These cases expand the mutational spectrum of GARS1-related disorders and demonstrate phenotypic variability based on the specific substitution at a single residue.

To determine the clinical usefulness of systemic genetic testing in neuropathies without definite etiology. We systematically performed genetic testing in all patients with neuropathy who did not have a definite etiology, seen at our neuromuscular clinic between 2017 and 2020. The testing consisted of an inherited neuropathy panel (72–81 genes), which used next-generation sequencing technology. We screened 200 patients. Pathogenic mutations were found in 30 (15%). PMP22, TTR and GJB1, accounted for 83.3% of positive mutations. The management was altered in four patients (2%). Two patients were found to have hereditary transthyretin amyloidosis and were started on TTR gene silencers. Two patients were being treated for demyelinating autoimmune neuropathy and were diagnosed with CMT1A and CMTX. Screening for genetic mutations in patients with neuropathy without a definite etiology is useful. While only a minority of patients with unsuspected inherited neuropathy tested positive, the findings altered management in some, improving morbidity and, perhaps, mortality.

In the paper we convey the lessons learned along the path we have gone through several years since establishing a room-sized CAVE installation at our university, from craft manufacturing and ad-hoc software reuse of VR soft- ware products to the robust feature driven software product line (SPL) implementing the Product Line Engineering (PLE) factory paradigm. With that we can serve all our departments and other entities from the region by rapidly instantiating different VR products based on a standard set of core assets and driven by a set of common features of VR applications destined to be deployed in the same target CAVE system – with the minimal budget and time to market requirements. A comprehensive survey of the most representative CAVE applications created in Gdansk Tech Immersive 3D Visualization Lab (I3DVL) according to PLE paradigm presented in the paper provides evi- dence supporting this claim.

Lissencephaly comprises a spectrum of malformations of cortical development. This spectrum includes agyria, pachygyria, and subcortical band heterotopia; each represents anatomical malformations of brain cortical development caused by neuronal migration defects. The molecular etiologies of neuronal migration anomalies are highly enriched for genes encoding microtubules and microtubule-associated proteins, and this enrichment highlights the critical role for these genes in cortical growth and gyrification. Using exome sequencing and family based rare variant analyses, we identified a homozygous variant (c.997C>T [p.Arg333Cys]) in TUBGCP2, encoding gamma-tubulin complex protein 2 (GCP2), in two individuals from a consanguineous family; both individuals presented with microcephaly and developmental delay. GCP2 forms the multiprotein γ-tubulin ring complex (γ-TuRC) together with γ-tubulin and other GCPs to regulate the assembly of microtubules. By querying clinical exome sequencing cases and through GeneMatcher-facilitated collaborations, we found three additional families with bi-allelic variation and similarly affected phenotypes including a homozygous variant (c.1843G>C [p.Ala615Pro]) in two families and compound heterozygous variants consisting of one missense variant (c.889C>T [p.Arg297Cys]) and one splice variant (c.2025-2A>G) in another family. Brain imaging from all five affected individuals revealed varying degrees of cortical malformations including pachygyria and subcortical band heterotopia, presumably caused by disruption of neuronal migration. Our data demonstrate that pathogenic variants in TUBGCP2 cause an autosomal recessive neurodevelopmental trait consisting of a neuronal migration disorder, and our data implicate GCP2 as a core component of γ-TuRC in neuronal migrating cells.

Congenital microcephaly causes smaller than average head circumference relative to age, sex and ethnicity and is most usually associated with a variety of neurodevelopmental disorders. The underlying etiology is highly heterogeneous and can be either environmental or genetic. Disruption of any one of multiple biological processes, such as those underlying neurogenesis, cell cycle and division, DNA repair or transcription regulation, can result in microcephaly. This etiological heterogeneity manifests in a clinical variability and presents a major diagnostic and therapeutic challenge, leaving an unacceptably large proportion of over half of microcephaly patients without molecular diagnosis. To elucidate the clinical and genetic landscapes of congenital microcephaly, we sequenced the exomes of 191 clinically diagnosed patients with microcephaly as one of the features. We established a molecular basis for microcephaly in 71 patients (37%), and detected novel variants in five high confidence candidate genes previously unassociated with this condition. We report a large number of patients with mutations in tubulin-related genes in our cohort as well as higher incidence of pathogenic mutations in MCPH genes. Our study expands the phenotypic and genetic landscape of microcephaly, facilitating differential clinical diagnoses for disorders associated with most commonly disrupted genes in our cohort.

Within the e-mobility sector, which represents a major driver of the development of the overall lithium-ion battery market, batteries with nickel-manganese-cobalt (NMC) cathode chemistries are currently gaining ground. This work is specifically dedicated to this NMC battery type and investigates achievable recovery rates of the valuable materials contained when applying an unconventional, pyrometallurgical reactor concept. For this purpose, the currently most prevalent NMC modifications (5-3-2, 6-2-2, and 8-1-1) with carbon addition were analyzed using thermogravimetric analysis and differential scanning calorimetry, and treated in a lab-scale application of the mentioned reactor principle. It was shown that the reactor concept achieves high recovery rates for nickel, cobalt, and manganese of well above 80%. For lithium, which is usually oxidized and slagged, the transfer coefficient into the slag phase was less than 10% in every experimental trial. Instead, it was possible to remove the vast amount of it via a gas phase, which could potentially open up new paths regarding metal recovery from spent lithium-ion batteries.