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.

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.

Sub-Chronic 30 mg/kg Iron Treatment Induces Spatial Cognition Impairment and Brain Oxidative Stress in Wistar Rats.

Iron overload has been shown to have deleterious effects in the brain through the formation of reactive oxygen species, which ultimately may contribute to neurodegenerative disorders. Accordingly, rodent studies have indicated that systemic administration of iron produces excess iron in the brain and results in behavioral and cognitive deficits. To what extent cognitive abilities are affected and which neurobiological mechanisms underlie those deficits remain to be more fully characterized.

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.

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.

Seatizen Atlas: a collaborative dataset of underwater and aerial marine imagery.

Citizen Science initiatives have a worldwide impact on environmental research by providing data at a global scale and high resolution. Mapping marine biodiversity remains a key challenge to which citizen initiatives can contribute. Here we describe a dataset made of both underwater and aerial imagery collected in shallow tropical coastal areas by using various low cost platforms operated either by citizens or researchers.

Intervalence plasmons in boron-doped diamond.

Doped semiconductors can exhibit metallic-like properties ranging from superconductivity to tunable localized surface plasmon resonances. Diamond is a wide-bandgap semiconductor that is rendered electronically active by incorporating a hole dopant, boron. While the effects of boron doping on the electronic band structure of diamond are well-studied, any link between charge carriers and plasmons has never been shown.

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.

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.

Identifying specific subgroups of older patients at risk of repeated hospital readmissions and death after discharge in a prospective multicentre cohort in France.

Objective: To identify specific subgroups of older patients at risk of repeated hospital readmissions and death.

Design: Prospective, multicentre, DAMAGE (Patient Outcomes After Hospitalization in Acute Geriatric Unit) cohort of adults aged 75 and over, discharged from an acute geriatric unit (AGU) and followed up for 12 months.

Setting: Six recruiting hospital centres in the Hauts-de-France and Normandie regions of France.

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).

Effects of Resistance Training on Muscular Adaptations and Inflammatory Markers in Overweight and Obese Men.

Purpose: Obesity may blunt exercise responsiveness to improve muscular adaptations. The effect of resistance training (RT) targeting different body regions on muscle and inflammatory markers is unclear. This study aimed to investigate the impact of upper (upper body exercises), lower (lower body exercises), or combined (upper body + lower body exercises) RT on muscle and inflammatory markers, body composition, and performance in overweight and obese men.

Alpha Atlas: Mapping global production of α-emitting radionuclides for targeted alpha therapy.

Targeted Alpha Therapy has shown great promise in cancer treatment, sparking significant interest over recent decades. However, its broad adoption has been impeded by the scarcity of alpha-emitters and the complexities related to their use. The availability of these radionuclides is often constrained by the intricate production processes and purification, as well as regulatory and logistical challenges.

Diagnostic and prognostic perspectives of fabry disease via fiber evanescent wave spectroscopy advanced by machine learning.

Fabry disease (FD) is a rare disorder resulting from a genetic mutation characterized by the accumulation of sphingolipids in various cells throughout the human body, leading to progressive and irreversible organ damage, particularly in males. Genetically-determined deficiency or reduced activity of the enzyme (alpha - Galactosidase; α-Gal) leads to the accumulation of sphingolipids in the lysosomes of various cell types, including the heart, kidneys, skin, eyes, central nervous system, and digestive system, triggering damage, leading to the failure of vital organs, and resulting in progressive disability and premature death. FD diagnostics currently depend on costly and time-intensive genetic tests and enzymatic analysis, often leading to delayed or inaccurate diagnoses, which contribute to rapid disease progression.

Change in muscle fibre protein structure following salting process assessed by synchrotron deep UV fluorescence microspectroscopy.

Samples of pork teres major muscle were salted and tumbled with 0.9 %, 1.3 % & 1.

Distribution of organic matter and diatom frustules (diversity, flux) along the western Indian continental shelf related to contrasting physicochemical settings.

The western Indian continental shelf (eastern Arabian Sea) exhibits contrasting biogeochemical features. This area becomes highly productive due to summer monsoon-driven coastal upwelling in the south and winter monsoon-induced convective mixing in the north. Additionally, in the northern self, the eastern boundary of the Oxygen Minimum Zone (OMZ) persists but is absent in the south.

Trace element solubility in wet deposition: Investigating the evolution at the intra-event scale.

Understanding the solubility dynamics of elements during wet deposition is crucial for assessing their environmental impacts. In this study, we investigated the solubility behaviour of various elements originating from natural and anthropogenic sources using a dataset of 106 samples describing the sequential collections of 8 rainfall events. Our results reveal distinct solubility patterns depending on the type of event, with mineral-dust events exhibiting lower solubility and anthropogenic events displaying higher solubility, in relation with dust content and pH.

Bat coronavirus surveillance across different habitats in Yucatán, México.

Bats, which play a vital role in maintaining ecosystems, are also known as natural reservoirs of coronaviruses (CoVs), thus have raised concerns about their potential transmission to humans, particularly in light of the emergence of MERS-CoV, SARS-CoV, and SARS-CoV-2. The increasing impact of human activities and ecosystem modifications is reshaping bat community structure and ecology, heightening the risk of the emergence of potential epidemics. Therefore, continuous monitoring of these viruses in bats is necessary.

Influence of musical background on children's handwriting: Effects of melody and rhythm.

Numerous studies have reported benefits of music listening to support learning and motor rehabilitation. In the case of handwriting, previous studies suggested that musical background improves movement speed and fluency. Whether this benefit comes from the melody or is specifically related to the rhythmic cues provided by the music remains to be established.