A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.

Purpose: Although chromosome 21 is the smallest human chromosome, it is highly relevant in the pathogenicity of both cancer and congenital diseases, including Alzheimer disease and trisomy 21 (Down syndrome). In addition, cases with rare structural variants (SVs) of chromosome 21 have been reported. These events vary in size and include large chromosomal events, such as ring chromosomes and small partial aneuploidies.

Temporary Nanoencapsulation of Human Intestinal Organoids Using Silk Ionomers.

Human intestinal organoids (HIOs) are vital for modeling intestinal development, disease, and therapeutic tissue regeneration. However, their susceptibility to stress, immunological attack, and environmental fluctuations limits their utility in research and therapeutic applications. This study evaluated the effectiveness of temporary silk protein-based layer-by-layer (LbL) nanoencapsulation technique to enhance the viability and functions of HIOs against common biomedical stressors, without compromising their native functions.

Thermoplastic Molding of Silk-Curcumin Sustainable Composite Materials with Antibacterial Properties.

Silk fibroin (SF) is a natural protein generated from the silkworm cocoons. It is useful for many different material applications. Versatile aqueous process engineering options can be used to support the morphological and structural modifications of silk materials related to tailored physical, chemical, and biological properties.

Interhospital transfers in elderly trauma patients.

Introduction: The elderly population is growing worldwide and is more likely to die from injuries that younger patients would likely survive. Furthermore, elderly trauma patients are often subjected to triage decisions that admit them to lower-level facilities. These patients may require interhospital transfer to a major trauma center for definitive care.

3D Neurovascular Unit Tissue Model to Assess Responses to Traumatic Brain Injury.

The neurovascular unit (NVU) is a critical interface in the central nervous system that links vascular interactions with glial and neural tissue. Disruption of the NVU has been linked to the onset and progression of neurodegenerative diseases. Despite its significance the NVU remains challenging to study in a physiologically relevant manner.

Survival of the fastest? A descriptive analysis of severely injured trauma patients primarily admitted or secondarily transferred to major trauma centers in a Danish inclusive trauma system.

Background: Trauma systems are crucial for enhancing survival and quality of life for trauma patients. Understanding trauma triage and patient outcomes is essential for optimizing resource allocation and trauma care.

Aims: The aim was to explore prehospital trauma triage in Region Zealand, Denmark.

Set Up and Utilization of a Three-Dimensional In Vitro Bioreactor System for Human Intestinal Studies and Microbial Co-Cultures.

The study of human intestinal physiology and host-microbe interactions is crucial for understanding gastrointestinal health and disease. Traditional two-dimensional cell culture models lack the complexity of the native intestinal environment, limiting their utility in studying intestinal biology. Here, we present a detailed protocol for the set up and utilization of a three-dimensional (3D) in vitro bioreactor system for human intestinal studies and bacterial co-culture.

Perfused In Vitro Intestine Tissue Model to Evaluate the Role of Stromal and Immune Cells in Epithelial Response to Inflammatory Cues and Drug Therapies.

We establish an in vitro perfusion intestinal tissue bioreactor system tailored to study drug responses related to inflammatory bowel disease (IBD). The system includes key components including multiple human intestinal cell types (colonoids, myofibroblasts, and macrophages), a three-dimensional (3D) intestinal architecture, and fluid flow. Inclusion of myofibroblasts resulted in increased secretion of cytokines such as glypican-1 (GCP-1), granulocyte-macrophage colony-stimulating factor (GM-CSF), and interleukin 1-α (IL-1α), whereas inclusion of macrophages resulted in increased secretion of monocyte chemoattractant proteins (MCPs) demonstrating a significant role of both stromal and immune cell types in intestinal inflammation.

Inter hospital transfers in rotor wing aircraft. Patterns and challenges. Protocol for a scoping review.

Background: Inter-hospital transfer is necessary for the transport of patients to specialized treatment. Rotor-wing aircraft may be used in lieu of ambulances in time-critical conditions over long distances and when specialist team skills are called for. The purpose of the review is to assess the current scientific literature that describes the scenario to develop a national guideline for inter-hospital transfers using rotor-wing aircraft.

Neocortical long-range inhibition promotes cortical synchrony and sleep.

Behavioral states such as sleep and wake are highly correlated with specific patterns of rhythmic activity in the cortex. During low arousal states such as slow wave sleep, the cortex is synchronized and dominated by low frequency rhythms coordinated across multiple regions. Although recent evidence suggests that GABAergic inhibitory neurons are key players in cortical state modulation, the circuit mechanisms coordinating synchronized activity among local and distant neocortical networks are not well understood.

Evolution of a novel adrenal cell type that promotes parental care.

Cell types with specialized functions fundamentally regulate animal behaviour, and yet the genetic mechanisms that underlie the emergence of novel cell types and their consequences for behaviour are not well understood. Here we show that the monogamous oldfield mouse (Peromyscus polionotus) has recently evolved a novel cell type in the adrenal gland that expresses the enzyme AKR1C18, which converts progesterone into 20α-hydroxyprogesterone. We then demonstrate that 20α-hydroxyprogesterone is more abundant in oldfield mice, where it induces monogamous-typical parental behaviours, than in the closely related promiscuous deer mice (Peromyscus maniculatus).

Impact of Silk-Ionomer Encapsulation on Immune Cell Mechanical Properties and Viability.

Encapsulation of single cells is a powerful technique used in various fields, such as regenerative medicine, drug delivery, tissue regeneration, cell-based therapies, and biotechnology. It offers a method to protect cells by providing cytocompatible coatings to strengthen cells against mechanical and environmental perturbations. Silk fibroin, derived from the silkworm , is a promising protein biomaterial for cell encapsulation due to the cytocompatibility and capacity to maintain cell functionality.

More than meets the eye: A conserved sensorimotor reflex helps unravel the circuit mechanisms of ASD.

Animal models are instrumental to understanding the mechanisms underlying autism spectrum disorder, yet translating human behavioral phenotypes remains challenging. Wang et al. leverage a conserved sensorimotor reflex to elucidate synaptic deficits in Scn2a haploinsufficiency and pilot novel rescue strategies.

Impact of Micro- and Nano-Plastics on Human Intestinal Organoid-Derived Epithelium.

The development of patient-derived intestinal organoids represents an invaluable model for simulating the native human intestinal epithelium. These stem cell-rich cultures outperform commonly used cell lines like Caco-2 and HT29-MTX in reflecting the cellular diversity of the native intestinal epithelium after differentiation. In our recent study examining the effects of polystyrene (PS), microplastics (MPs), and nanoplastics (NPs), widespread pollutants in our environment and food chain, on the human intestinal epithelium, these organoids have been instrumental in elucidating the absorption mechanisms and potential biological impacts of plastic particles.

Assessing optimal methods for transferring machine learning models to low-volume and imbalanced clinical datasets: experiences from predicting outcomes of Danish trauma patients.

Introduction: Accurately predicting patient outcomes is crucial for improving healthcare delivery, but large-scale risk prediction models are often developed and tested on specific datasets where clinical parameters and outcomes may not fully reflect local clinical settings. Where this is the case, whether to opt for de-novo training of prediction models on local datasets, direct porting of externally trained models, or a transfer learning approach is not well studied, and constitutes the focus of this study. Using the clinical challenge of predicting mortality and hospital length of stay on a Danish trauma dataset, we hypothesized that a transfer learning approach of models trained on large external datasets would provide optimal prediction results compared to de-novo training on sparse but local datasets or directly porting externally trained models.

Cognitive-Affective Functions of the Cerebellum.

The cerebellum, traditionally associated with motor coordination and balance, also plays a crucial role in various aspects of higher-order function and dysfunction. Emerging research has shed light on the cerebellum's broader contributions to cognitive, emotional, and reward processes. The cerebellum's influence on autonomic function further highlights its significance in regulating motivational and emotional states.

Interoperable, Domain-Specific Extensions for the German Corona Consensus (GECCO) COVID-19 Research Data Set Using an Interdisciplinary, Consensus-Based Workflow: Data Set Development Study.

The COVID-19 pandemic has spurred large-scale, interinstitutional research efforts. To enable these efforts, researchers must agree on data set definitions that not only cover all elements relevant to the respective medical specialty but also are syntactically and semantically interoperable. Therefore, the German Corona Consensus (GECCO) data set was developed as a harmonized, interoperable collection of the most relevant data elements for COVID-19-related patient research.

Mucosa-Mimetic Materials for the Study of Intestinal Homeostasis and Disease.

Mucus is a viscoelastic hydrogel that lines and protects the epithelial surfaces of the body that houses commensal microbiota and functions in host defense against pathogen invasion. As a first-line physical and biochemical barrier, intestinal mucus is involved in immune surveillance and spatial organization of the microbiome, while dysfunction of the gut mucus barrier is implicated in several diseases. Mucus can be collected from a variety of mammalian sources for study, however, established methods are challenging in terms of scale and efficiency, as well as with regard to rheological similarity to native human mucus.

Biological effects of polystyrene micro- and nano-plastics on human intestinal organoid-derived epithelial tissue models without and with M cells.

Micro- and nano-plastics (MPs and NPs) released from plastics in the environment can enter the food chain and target the human intestine. However, knowledge about the effects of these particles on the human intestine is still limited due to the lack of relevant human intestinal models to validate data obtained from animal studies or tissue models employing cancer cells. In this study, human intestinal organoids were used to develop epithelia to mimic the cell complexity and functions of native tissue.

Long-term cardiovascular consequences of adolescent anorexia nervosa.

Background: Anorexia nervosa (AN) is associated with maladaptive cardiovascular changes. This study investigated whether individuals who recovered from AN during adolescence experience long-term cardiovascular risk in early adulthood.

Methods: Former AN patients discharged from the Royal Children's and Monash Children's Hospital Eating Disorder Services in Melbourne, Australia underwent cardiovascular testing.

Nursing during the COVID-19 pandemic: A reflective thematic analysis of how the hamster wheel shifted personal and professional control.

Aim: The aim of this national study was to examine the experience of nurses 9-12 months after the onset of the pandemic.

Design: This article reports the reflective thematic analysis of the qualitative portion of a mixed methods study of the experiences of 1319 Canadian nurses between February to May 2021.

Methods: Data gathering occurred through open-text box questions in an online survey.