Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.

Hereditary adult-onset ataxias are a heterogeneous group of phenotypically overlapping conditions, often caused by pathogenic expansions of short tandem repeats. Currently, 18 repeat disorders with a core phenotype of adult-onset ataxia are known. Diagnosis typically relies on sequential PCR-based methods, which are labour-intensive and lack precision.

[Monitoring of laboratory diagnostic parameters in critical care patients - Part 1 - Hematology, coagulation and acute-phase-proteins].

Critically ill dogs and cats commonly present with a dysfunction of multiple organ systems, systemic inflammatory response, and infection. The "Rule of 20" scheme provides a structured framework to systematically assess these changes, including numerous laboratory diagnostics. This two-part review article summarizes key laboratory tests and their most frequent alterations in critically ill dogs and cats.

Paleoparasitological evidence of helminth infections in individuals from two Late Iron Age necropolises in Northern Italy (3rd-1st c. BCE).

Objective: Evaluate the presence of digestive macroparasites (helminths) in human remains from the Late Iron Age (3rd-1st c. BCE) in northern Italy (Verona province).

Materials: Pelvic soil samples and control samples from the skull or foot areas of 55 individuals from the necropolises of Seminario Vescovile (n = 45) and Povegliano Veronese (n = 10).

An interplay of non-coding RNAs regulates expression and affects endothelial function and coronary artery disease risk.

Many common diseases have a polygenic architecture. The responsible alleles are thought to mediate risk by disturbing gene regulation in most cases, however, the precise mechanisms have been elucidated only for a few. Here, we investigated the genomic locus, which genome-wide significantly associates with coronary artery disease, a globally leading cause of death caused by accumulation of lipid-rich inflammatory plaques in the arterial wall.

Mimicking the oviductal fluid viscosity improves the quality of in vitro-produced bovine embryos†.

The oviductal fluid (OF) provides essential nutritional, mechanical, and physical support during the first four days of embryonic development. Among its physical properties, viscosity has been largely overlooked in embryo in vitro culture (IVC) media due to limited available data. In this study, we measured the viscosity of bovine OF from ex vivo samples and mimicked it during in vitro embryo culture.

The Origin of the Feedstock Molecules for Life on the Hadean Earth.

The origin of life in the Hadean eon required the formation of amino acids and nucleosides among the key molecules of life. It is assumed that highly unsaturated carbon and nitrogen containing feedstock molecules, which form in a strongly reducing H-atmosphere were the reactive starting materials. The Hadean Earth was, however, surrounded by a CO-dominated atmosphere and the question of how under such inert conditions the biomolecules could have formed is unsolved.

Update on the Prevalence of the PCV2 Major Genotypes PCV2a, PCV2b, and PCV2d in German Fattening Farms in 2024.

The occurrence of PCV2 genotypes in domestic pig production is a dynamic process that undergoes continuous change. Beginning with PCV2a as the first recognized genotype, PCV2b, and subsequently PCV2d, has become the most prevalent one over time. The present study provides an update on the prevalence of the three major PCV2 genotypes in Germany in 2024.

Copper-Catalyzed Electrophilic Amination of Aryl and Pyridylzinc Pivalates Mediated by N-Based Hypervalent Iodine(III) Reagents.

We describe a new Cu-catalyzed electrophilic amination of rapidly prepared, air-stable polyfunctional organozinc compounds using hypervalent iodine reagents bearing transferable aryl/alkyl amines. A wide range of aryl, heteroaryl, and alkyl amines were prepared. The mechanism of the reaction was investigated using density functional theory calculations.

The rise of rideable horses.

Early horse riders selected a rare mutation in a single gene to enhance rideability.

Sleep's contribution to memory formation.

The brain state of sleep contributes in a specific way to the formation of long-term memory. Over the past 10 years, research on the psychological and neuronal mechanisms underlying this process has rapidly increased, including studies in humans and rodents across early and late life. Intended to comprehensively cover this research, our review reveals that the majority of findings is consistent with the concept of long-term memory formation during sleep as an active systems consolidation process that concurs with widespread synaptic down-selection.

Plasmon-Enhanced CH Generation in the CO Electroreduction Reaction on a CuPd Tandem Catalyst.

Electrocatalysis enables the conversion of CO into value-added fuels and chemicals, offering a sustainable solution for greenhouse gas mitigation. However, achieving high selectivity for C2 products like ethylene (CH) remains challenging due to competing C1 pathways and complex multielectron processes. Here, we demonstrate that plasmon resonances can selectively enhance the electroreduction of CO to CH by 27.

Anti-CTLA-4 Treatment Abrogates Co-stimulation Blockade-induced Acceptance of Transgenic Porcine Islets in Humanized Mice.

Background: In previous studies, we showed that beta cell-specific overexpression of high-affinity variant of human CTLA-4 (LEA29Y), a high-affinity variant of cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4)-immunoglobulin, prevented porcine islet rejection in humanized mouse models. We here investigate whether long-term xenograft function and survival is maintained after neutralization of LEA29Y-mediated co-stimulation blockade.

Methods: Diabetic humanized NOD-SCID IL2rγ-/- mice were transplanted with transgenic neonatal porcine islet-like clusters expressing LEA29Y under control of the porcine insulin promoter.

Cardiac disease in patients with vasculitis.

Background: Cardiac involvement has been described in many forms of vasculitides and is associated with worse outcomes. However, data on the incidence of structural and arrhythmic heart disease is limited.

Methods: For this single-center study, we recruited 191 patients with giant-cell arteritis (GCA, n = 109), Takayasu arteritis (TAK, n = 26), polyarteritis nodosa (PAN, n = 3), granulomatosis with polyangiitis (GPA, n = 38), or eosinophilic granulomatosis with polyangiitis (EGPA, n = 15) between August 2023 and January 2025.

CD20+ natural killer cells are polyfunctional, memory-like cells that are enriched in inflammatory disorders.

While CD20 was initially characterized as a B cell-specific marker, its expression on memory T cells has expanded our understanding of this molecule's distribution and function. Here, we identify a previously unrecognized CD20-expressing NK cell population and demonstrate its functional significance. CD56+CD20+ NK cells exhibit hallmarks of cellular activation, including elevated NKp46, CD69, and CD137 expression, enhanced proliferative capacity, and increased production of inflammatory cytokines (IFN-γ, GM-CSF, TNF-α, IL-10).

[Changes in renal function parameters after cotrimoxazole therapy].

Cotrimoxazole is a combination antibiotic composed of the two active substances trimethoprim and sulfamethoxazole (TMP-SMX). TMP-SMX is known to affect renal function parameters. It can cause true acute kidney injury but may also mimic acute kidney injury by inhibiting the renal secretion of creatinine.

Cobalt-Based Catalyst Integration Into a Hierarchically Ordered Macro-Meso-microporous Carbon Cathode for High-performance Aqueous Zn-Sulfur Batteries.

The pyrolytic synthesis of an ordered macro-meso-micro porous carbon cathode material (OM-PC) with integration of a CoZnC/Co catalyst is reported. It is derived from a Co-doped ZIF-8 framework via a templated in situ growth within the interstitial spaces of a preformed self-assembled polystyrene monolith, followed by the template removal. The hierarchical 3D architecture facilitates Zn⁺ diffusion and enhances reaction kinetics during charge-discharge processes.

Potential of small extracellular vesicles as Cas9 delivery tool: A promising approach for gene editing livestock gametes and embryos.

Genome editing is a rapidly advancing technology with transformative potential in livestock, offering opportunities that range from enhanced production traits to the generation of biomedical models for human disease and xenotransplantation. The CRISPR/Cas9 system, originally identified as a bacterial defense mechanism, has become the most widely used tool for precise genome editing. In this review, we first summarize the potential applications of CRISPR/Cas9 in livestock and highlight notable successes to date.

Realization of a doped quantum antiferromagnet in a Rydberg tweezer array.

Doping an antiferromagnetic (AFM) Mott insulator is central to our understanding of a variety of phenomena in strongly correlated electrons, including high-temperature superconductors. To describe the competition between tunnelling t of hole dopants and AFM spin interactions J, theoretical and numerical studies often focus on the paradigmatic t-J model and the direct analogue quantum simulation of this model in the relevant regime of high-particle density has long been sought. Here we realize a doped quantum antiferromagnet with next-nearest-neighbour (NNN) tunnellings t' (refs.

Macrophage Zc3h12c Limits Tissue Inflammation and Injury via Alternative Splicing of Pre-mRNA.

RNA-binding proteins regulate post-transcriptional gene translation, but the macrophage-specific role of Zc3h12c remains poorly characterized. Here, the role of Zc3h12c in macrophages is characterized using Tnfrsf11a-Zc3h12c mice. Both Tnfrsf11a and Zc3h12c are highly expressed in the kidney tissue from patients with chronic kidney disease and showed a positive association with an interstitial fibrosis score.

Building a robust backbone for Astragalus using a clade-specific target enrichment bait set.

Premise: With over 3100 species, Astragalus L. (Fabaceae) has long fascinated botanists as the largest genus of flowering plants. With an origin in the Middle Miocene, Astragalus has one of the highest diversification rates known in flowering plants.

The expanding role of the NLRP3 inflammasome from periodic fevers to therapeutic targets.

Understanding and treating inflammation has proven a formidable challenge. The initiator and central motor of inflammation, the protein NLRP3, is an innate immune sentinel and nonspecific sensor of cellular perturbation. A wide array of inflammatory triggers prompts the formation of an NLRP3 'inflammasome' complex, leading to inflammatory interleukin-1 family cytokine release and pyroptotic cell death.

Footprints of Worldwide Adaptation in Structured Populations of Drosophila melanogaster Through the Expanded DEST 2.0 Genomic Resource.

Large-scale genomic resources can place genetic variation into an ecologically informed context. To advance our understanding of the population genetics of the fruit fly Drosophila melanogaster, we present an expanded release of the community-generated population genomics resource Drosophila Evolution over Space and Time (DEST 2.0; https://dest.

Approximately Symmetric Neural Networks for Quantum Spin Liquids.

We propose and analyze a family of approximately symmetric neural networks for quantum spin liquid problems. These tailored architectures are parameter efficient, scalable, and significantly outperform existing symmetry-unaware neural network architectures. Utilizing the mixed-field toric code and PXP Rydberg Hamiltonian models, we demonstrate that our approach is competitive with state-of-the-art tensor network and quantum Monte Carlo methods.

[S3 guideline on sepsis-prevention, diagnosis, therapy, and follow-up care-update 2025].

Background: Sepsis is an acute, life-threatening multiple organ dysfunction triggered by an infection.

Methods: This guideline is an update of the S3 guideline "Sepsis-prevention, diagnosis, therapy, and follow-up care" (Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaft [AMWF] Registry No. 079-001) of the German Sepsis Society (DSG) dated 31 December 2018.