Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.

Objectives: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modelling the natural history, and uncovering genotype-phenotype associations.

Methods: A cross-sectional analysis of 90 published and one novel case was performed, employing a Human Phenotype Ontology-based approach.

Annual Banned-Substance Review 17th Edition-Analytical Approaches in Human Sports Drug Testing 2023/2024.

The 17th edition of the annual banned-substance review on analytical approaches in human sports drug testing is dedicated to literature published between October 2023 and September 2024. As in previous years, focus is put particularly on new or enhanced analytical options in human doping controls as well as investigations into the metabolism and elimination of compounds of interest, which represent central (while not exclusive) cornerstones of the global anti-doping mission. New information published within the past 12 months on established doping agents as well as new potentially relevant substances are reviewed and discussed in the context of the World Anti-Doping Agency's 2024 Prohibited List.

Novel Insights into Enhanced Stability of Li-Rich Layered and High-Voltage Olivine Phosphate Cathodes for Advanced Batteries through Surface Modification and Electron Structure Design.

The design of cathode/electrolyte interfaces in high-energy density Li-ion batteries is critical to protect the surface against undesirable oxygen release from the cathodes when batteries are charged to high voltage. However, the involvement of the engineered interface in the cationic and anionic redox reactions associated with (de-)lithiation is often ignored, mostly due to the difficulty to separate these processes from chemical/catalytic reactions at the cathode/electrolyte interface. Here, a new electron energy band diagrams concept is developed that includes the examination of the electrochemical- and ionization- potentials evolution upon batteries cycling.

Barriers and Carriers for Transition Metal Homeostasis in Plants.

Transition metals are a type of metal with high chemical activity and play critical roles in plant growth and development, reproduction and environmental adaptation, as well as for human health. However, the acquisition, transportation and storage of these metals always pose specific challenges due to their nature of high reactivity and poor solubility. In addition, distinct yet interconnected apoplastic and symplastic diffusion barriers impede their movement throughout the plants.

Potential Evolutionary Convergence in Trophic Adaptations of Two Booidean Snake Lineages as Evidenced by Skull Morphology.

Booidean snakes are a diverse and widespread lineage with an intriguing evolutionary and biogeographic history. By means of cranial morphology and osteology, this study investigates the evolutionary convergence in the Neotropical genera Boa and Corallus on the one hand and the Malagasy clade comprising Acrantophis and Sanzinia on the other. We hypothesize that the mostly arboreal Corallus and Sanzinia present larger jaws and longer teeth to keep hold of the prey and resist gravity and torsional forces acting on their skull while hanging from branches, while terrestrial genera such as Acrantophis show thinner jaws with shorter teeth because they can rely on the full length of their coils to immobilize and constrict the prey together with a substrate that supports the whole of their body.

A tripartite transcriptional module regulates protoderm specification during embryogenesis in Arabidopsis.

Protoderm formation is a crucial step in early embryo patterning in plants, separating the precursors of the epidermis and the inner tissues. Although key regulators such as ARABIDOPSIS THALIANA MERISTEM LAYER1 (ATML1) and PROTODERMAL FACTOR2 (PDF2) have been identified in the model plant Arabidopsis thaliana, the genetic pathways controlling protoderm specification remain largely unexplored. Here, we combined genetic, cytological, and molecular approaches to investigate the regulatory mechanisms of protoderm specification in Arabidopsis thaliana.

Expression of claudin-18.2 in cholangiocarcinoma: a comprehensive immunohistochemical analysis from a German tertiary centre.

Aims: Anti-claudin-18.2 (CLDN18.2) therapy was recently approved for the treatment of gastric or gastro-oesophageal junction adenocarcinoma.

Cancer Organoids as reliable disease models to drive clinical development of novel therapies.

On September 23-24 (2024) the 6th Workshop IRE on Translational Oncology, titled "Cancer Organoids as Reliable Disease Models to Drive Clinical Development of Novel Therapies," took place at the IRCCS Regina Elena Cancer Institute in Rome. This prominent international conference focused on tumor organoids, bringing together leading experts from around the world.A central challenge in precision oncology is modeling the dynamic tumor ecosystem, which encompasses numerous elements that evolve spatially and temporally.

Forecast of total health expenditure on China's ageing population: a system dynamics model.

Background: China is currently at a turning point as its total population has started to decline, and therefore faces issues related to caring for an ageing population, which will require an increase in Total Health Expenditure (THE). Therefore, the ability to forecast China's future THE is essential.

Methods: We developed two THE System Dynamics (SD) models using Stella Architect 3.

Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease.

Background: The aim of our multicenter study was to investigate the implementation of the European Fabry guidelines on therapeutic recommendations in female patients with Fabry disease (FD) and to analyze the impact of enzyme replacement therapy (ERT) in treated and untreated females.

Results: Data from 3 consecutive visits of 159 female FD patients from 6 Fabry centers were retrospectively analyzed. According to their treatment, patients were separated in 3 groups (untreated, n = 71; newly ERT-treated, n = 47; long-term ERT-treated, n = 41).

Conservation of the dehiscence zone gene regulatory network in dicots and the role of the SEEDSTICK ortholog of California poppy (Eschscholzia californica) in fruit development.

Background: Fruits, with their diverse shapes, colors, and flavors, represent a fascinating aspect of plant evolution and have played a significant role in human history and nutrition. Understanding the origins and evolutionary pathways of fruits offers valuable insights into plant diversity, ecological relationships, and the development of agricultural systems. Arabidopsis thaliana (Brassicaceae, core eudicot) and Eschscholzia californica (California poppy, Papaveraceae, sister group to core eudicots) both develop dry dehiscent fruits, with two valves separating explosively from the replum-like region upon maturation.

STOUT V2.0: SMILES to IUPAC name conversion using transformer models.

Naming chemical compounds systematically is a complex task governed by a set of rules established by the International Union of Pure and Applied Chemistry (IUPAC). These rules are universal and widely accepted by chemists worldwide, but their complexity makes it challenging for individuals to consistently apply them accurately. A translation method can be employed to address this challenge.

The relationship between callous-unemotional traits and internalizing psychopathology in adolescent psychiatric inpatients: a network analysis.

Background: Numerous studies have investigated the relevance of callous-unemotional traits in relation to externalizing psychopathology among children and adolescents. However, less research has examined the connections between callous-unemotional traits and internalizing psychopathology and findings were inconsistent. Consequently, the present study aimed to elucidate the role of callous-unemotional traits in the context of depression and anxiety while controlling for conduct problems, age, and gender.

Sensory neuropathy in patients with Pompe disease: a case series in Iran.

Background: Pompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of sensory organs or the nervous system due to glycogen accumulation.

Aims: This study aimed to evaluate the presence of concomitant small and large fiber neuropathy in patients with Pompe disease.

Adaptive or non-adaptive? Cranial evolution in a radiation of miniaturized day geckos.

Lygodactylus geckos represent a well-documented radiation of miniaturized lizards with diverse life-history traits that are widely distributed in Africa, Madagascar, and South America. The group has diversified into numerous species with high levels of morphological similarity. The evolutionary processes underlying such diversification remain enigmatic, because species live in different ecological biomes, ecoregions and microhabitats, while suggesting strikingly high levels of homoplasy.

Challenges and opportunities of acquiring cortical recordings for chronic adaptive deep brain stimulation.

Deep brain stimulation (DBS), a proven treatment for movement disorders, also holds promise for the treatment of psychiatric and cognitive conditions. However, for DBS to be clinically effective, it may require DBS technology that can alter or trigger stimulation in response to changes in biomarkers sensed from the patient's brain. A growing body of evidence suggests that such adaptive DBS is feasible, it might achieve clinical effects that are not possible with standard continuous DBS and that some of the best biomarkers are signals from the cerebral cortex.

Transposon-triggered epigenetic chromatin dynamics modulate EFR-related pathogen response.

Infectious diseases drive wild plant evolution and impact crop yield. Plants, like animals, sense biotic threats through pattern recognition receptors (PRRs). Overly robust immune responses can harm plants; thus, understanding the tuning of defense response mechanisms is crucial for developing pathogen-resistant crops.

Assessment and ascertainment in psychiatric molecular genetics: challenges and opportunities for cross-disorder research.

Psychiatric disorders are highly comorbid, heritable, and genetically correlated [1-4]. The primary objective of cross-disorder psychiatric genetics research is to identify and characterize both the shared genetic factors that contribute to convergent disease etiologies and the unique genetic factors that distinguish between disorders [4, 5]. This information can illuminate the biological mechanisms underlying comorbid presentations of psychopathology, improve nosology and prediction of illness risk and trajectories, and aid the development of more effective and targeted interventions.

Testing the Dispersal-Origin-Status-Impact (DOSI) scheme to prioritise non-native and translocated species management.

Assessing actual and potential impacts of non-native species is necessary for prioritising their management. Traditional assessments often occur at the species level, potentially overlooking differences among populations. The recently developed Dispersal-Origin-Status-Impact (DOSI) assessment scheme addresses this by treating biological invasions as population-level phenomena, incorporating the complexities affecting populations of non-native species.

Wi-Fi signal for soil moisture sensing.

Measuring soil moisture is essential in various scientific and engineering disciplines. Over recent decades, numerous technologies have been employed for in situ monitoring of soil moisture. Currently, dielectric-based sensors are the most popular measurement technology and provide acceptable accuracy for various measurement purposes.

Ecological and anthropogenic effects on the genomic diversity of lemurs in Madagascar.

Ecological variation and anthropogenic landscape modification have had key roles in the diversification and extinction of mammals in Madagascar. Lemurs represent a radiation with more than 100 species, constituting roughly one-fifth of the primate order. Almost all species of lemurs are threatened with extinction, but little is known about their genetic diversity and demographic history.

Structural inequality linked to brain volume and network dynamics in aging and dementia across the Americas.

Structural inequality, the uneven distribution of resources and opportunities, influences health outcomes. However, the biological embedding of structural inequality in aging and dementia, especially among underrepresented populations, is unclear. We examined the association between structural inequality (country-level and state-level Gini indices) and brain volume and connectivity in 2,135 healthy controls, and individuals with Alzheimer's disease and frontotemporal lobe degeneration from Latin America and the United States.