Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport Syndrome.

Background And Hypothesis: Unlike X-linked or autosomal recessive Alport Syndrome, no clear genotype/phenotype correlation has yet been demonstrated in patients carrying a single variant of COL4A3 or COL4A4.

Methods: We carried out a multicenter retrospective study to assess the risk factors involved in renal survival in patients presenting a single pathogenic variant on COL4A3 or COL4A4.

Results: 97 patients presenting a single pathogenic variant of COL4A3 or COL4A4 were included.

Early systemic insults following severe sepsis-associated encephalopathy of critically ill patients: association with mortality and awakening-an analysis of the OUTCOMEREA database.

Background: Sepsis-associated encephalopathy (SAE) may be worsened by early systemic insults. We aimed to investigate the association of early systemic insults with outcomes of critically ill patients with severe SAE.

Methods: We performed a retrospective analysis using data from the French OUTCOMEREA prospective multicenter database.

Synchronous clonally related anaplastic large cell lymphoma and malignant histiocytosis.

Background: Synchronous malignant histiocytoses are rare conditions that occur concurrently with another hematologic neoplasm. Most reported cases are associated with B-cell lymphoproliferative disorders, while associations with T-cell hemopathies are less common. These two diseases may share mutations and/or cytogenetic anomalies, which can lead to malignant proliferations.

The association of biological sex and long-term outcomes in older patients with physical restraint at the emergency department.

Background: The worldwide population is ageing and self-arm can be prevented with many techniques. Among them coercive measure consisting of physical restraint (PR) is one of the techniques. This study aims to assess the effects of the biological sex on the long-term survival after PR in geriatric patients during the initial emergency department (ED) visit.

Kinetics of reformation of the S state capable of progressing to the S state after the O release by photosystem II.

The active site for water oxidation in photosystem II (PSII) comprises a MnCaO cluster adjacent to a redox-active tyrosine residue (Tyr). During the water-splitting process, the enzyme transitions through five sequential oxidation states (S to S), with O evolution occurring during the STyr· to STyr transition. Chloride also plays a role in this mechanism.

Understanding tinnitus symptom dynamics and clinical improvement through intensive longitudinal data.

Intensive longitudinal sampling enhances subjective data collection by capturing real-time, dynamic inputs in natural settings, complementing traditional methods. This study evaluates the feasibility of using daily self-reported app data to assess clinical improvement among tinnitus patients undergoing treatment. App data from a multi-center randomized clinical trial were analysed using time-series feature extraction and nested cross-validated ordinal regression with elastic net regulation to predict clinical improvement based on the Clinical Global Impression-Improvement scale (CGI-I).

Transarterial Radioembolisation with Y90 Resin Microspheres and the Effect of Reimbursement Criteria in France: Final Results of the CIRT-FR Prospective Observational Study.

Purpose: This analysis of the CIRSE Registry for SIR-Spheres Therapy in France, CIRT-FR, reports on real-world outcomes of transarterial radioembolisation (TARE) with Y90 resin microspheres for hepatocellular carcinoma (HCC) and colorectal cancer liver metastases (CRLM) patients in France, focusing on safety, effectiveness and health-related quality of life (HRQoL). Results on patients treated based on national reimbursement criteria are discussed here.

Methods: Prospective, multicentre, observational study of HCC and CRLM patients treated between August 2017 and July 2020 with TARE Y90 resin microspheres.

Evolutionary plasticity and functional repurposing of the essential metabolic enzyme MoeA.

MoeA, also known as gephyrin in higher eukaryotes, is an enzyme essential for molybdenum cofactor (Moco) biosynthesis and involved in GABA and GlyR receptor clustering at the synapse in animals. We recently discovered that Actinobacteria have a repurposed version of MoeA (Glp) linked to bacterial cell division. Since MoeA exists in all domains of life, our study explores how it gained multifunctionality over time.

Linking heartbeats with the cortical network dynamics involved in self-social touch distinction.

Research on interoception has revealed the role of heartbeats in shaping our perceptual awareness and embodying a first-person perspective. These heartbeat dynamics exhibit distinct responses to various types of touch. We advanced that those dynamics are directly associated to the brain activity that allows self-other distinction.

Multi-omics architecture of childhood obesity and metabolic dysfunction uncovers biological pathways and prenatal determinants.

Childhood obesity poses a significant public health challenge, yet the molecular intricacies underlying its pathobiology remain elusive. Leveraging extensive multi-omics profiling (methylome, miRNome, transcriptome, proteins and metabolites) and a rich phenotypic characterization across two parts of Europe within the population-based Human Early Life Exposome project, we unravel the molecular landscape of childhood obesity and associated metabolic dysfunction. Our integrative analysis uncovers three clusters of children defined by specific multi-omics profiles, one of which characterized not only by higher adiposity but also by a high degree of metabolic complications.

A multi-model study to inform the United States' 2035 NDC.

In 2025, countries are expected to submit a third round of nationally determined contributions (NDCs) that outline emission reduction goals for 2035. These new NDCs will be important for global alignment with the Paris Agreement's long-term goals. Setting an ambitious and plausible 2035 NDC in the United States (US) could be crucial in motivating high levels of ambition globally.

Systems immunology integrates the complex endotypes of recessive dystrophic epidermolysis bullosa.

Endotypes are characterized by the immunological, inflammatory, metabolic, and remodelling pathways that explain the mechanisms underlying the clinical presentation (phenotype) of a disease. Recessive dystrophic epidermolysis bullosa (RDEB) is a severe blistering disease caused by COL7A1 pathogenic variants. Although underscored by animal studies, the endotypes of human RDEB are poorly understood.

Familial History in Ovarian Teratomas Is a Frequent Event: 22 Years' Experience at a Single Center.

Background: Ovarian mature teratoma represents the most common benign neoplasm among pediatric germ cell tumors. This study reports the prevalence and characteristics of familial forms identified in a single center over 22 years in order to better understand possible familial predispositions to ovarian teratoma.

Methods: The records of all patients who were surgically treated for ovarian teratoma between 2000 and 2022 were retrospectively reviewed.

Guided-VCTE: An Enhanced FibroScan Examination With Improved Guidance and Applicability.

Objective: Although FibroScan (FS), based on Vibration-Controlled Transient Elastography (VCTE), is a widely used non-invasive device for assessing liver fibrosis and steatosis, its current standard-VCTE examination remains timely and difficult on patients with obesity. The Guided-VCTE examination uses continuous shear waves to locate the liver by providing a real-time predictive indicator for shear wave propagation and uses shear wave maps averaging to increase the signal-to-noise ratio in difficult to assess patients. We aimed to evaluate the effectiveness of the new indicator, as well as compare examination times and success rates with both standard-VCTE and Guided-VCTE examinations.

Organoids, organs-on-chips, complex in vitro model: Definitions, applications, validation, ethics.

Over the past decade, new in vitro biological models have emerged which can reproduce certain characteristics of human physiology and pathologies. From organoids to organs-on-chips, these new technologies are currently revolutionizing the entire chain of research and development in pharmacology. All stakeholders are thus involved, from academic laboratories to pharmaceutical companies, start-ups, and assessment agencies.

Prilling of crystallizable water-in-oil emulsions: Towards co-encapsulation of hydrophilic and lipophilic active ingredients within lipid microparticles.

Multiparticulate drug delivery systems offer advantages in controlled release, dose flexibility, and personalized medicine. Fusion prilling, a process that produces spherical lipid-based microparticles through vibrating nozzles, is gaining interest in the field. This study aims to explore the use of fusion prilling to encapsulate crystallizable water-in-oil emulsions, enabling the incorporation of hydrophilic active pharmaceutical ingredients (APIs) within lipid matrices.

Temperature-dependent benefits and costs of cytoplasmic male sterility in snail .

Cytoplasmic male sterility (CMS) originates from a mito-nuclear conflict where mitochondrial genes induce male sterility and nuclear genes restore male fertility in hermaphrodites. The first observation of CMS in animals was reported recently in the freshwater snail where it is associated with two extremes divergent mitotypes D and K. The D individuals are male-steriles while male fertility is restored by nuclear genes in K and are found mixed with the most common male-fertile N mitotype in natural populations (i.

An extensive dataset of spiking activity to reveal the syntax of the ventral stream.

Visual neuroscience benefits from high-quality datasets with neuronal responses to many images. Several neuroimaging datasets have been published in recent years, but no comparable dataset with spiking activity exists. Here, we introduce the THINGS ventral stream spiking dataset (TVSD).

High cellular plasticity state of medulloblastoma local recurrence and distant dissemination.

Medulloblastoma (MB), a heterogeneous pediatric brain tumor, poses challenges in the treatment of tumor recurrence and dissemination. To characterize cellular diversity and genetic features, we comprehensively analyzed single-cell/nucleus RNA sequencing (sc/snRNA-seq), single-nucleus assay for transposase-accessible chromatin sequencing (snATAC-seq), and spatial transcriptomics profiles and identified distinct cellular populations in SHH (sonic hedgehog) and Group_3 subgroups, with varying proportions in local recurrence or dissemination. Local recurrence showed higher cycling tumor cell enrichment, whereas disseminated lesions had a relatively notable presence of differentiated subsets.

Assessing the ecological and economic transformation pathways of plastic production system.

Plastic's incredible versatility drives its continuous production growth, contributing to 4.5% of global greenhouse gas (GHG) emissions. With an unsustainable 4% annual production growth rate, plastics' environmental impact is significant.