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 interaction of tPA with NMDAR1 drives neuroinflammation and neurodegeneration in α-synuclein-mediated neurotoxicity.

The thrombolytic protease tissue plasminogen activator (tPA) is expressed in the CNS, where it regulates diverse functions including neuronal plasticity, neuroinflammation, and blood-brain-barrier integrity. However, its role in different brain regions such as the substantia nigra (SN) is largely unexplored. In this study, we characterize tPA expression, activity, and localization in the SN using a combination of retrograde tracing and β-galactosidase tPA reporter mice.

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.

A patient with TPCN2-related hypopigmentation and ocular phenotype.

Pigmentation is orchestrated by hundreds of genes involved in cellular functions going from early developmental fate of pigment cells to melanin synthesis. The Two Pore Channel 2 (TPC2) a Ca2+ and Na+ channel acidifies melanosomal pH and thus inhibits pigmentation. A young patient was recently reported with generalized hypopigmentation but uneventful ocular examination, caused by the de novo heterozygous TPCN2 variant c.

Nanocarrier imaging at single-cell resolution across entire mouse bodies with deep learning.

Efficient and accurate nanocarrier development for targeted drug delivery is hindered by a lack of methods to analyze its cell-level biodistribution across whole organisms. Here we present Single Cell Precision Nanocarrier Identification (SCP-Nano), an integrated experimental and deep learning pipeline to comprehensively quantify the targeting of nanocarriers throughout the whole mouse body at single-cell resolution. SCP-Nano reveals the tissue distribution patterns of lipid nanoparticles (LNPs) after different injection routes at doses as low as 0.

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.

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.

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.

Association of Burnout and Intention-To-Leave the Job With Objective Nursing Workload and Nursing Working Environment: A Cross-Sectional Study Among Intensive Care Nurses.

Aim: The objectives of this study were to determine the prevalence of burnout risk and intention-to-leave among intensive care unit (ICU) nurses and analyse the association of these with workload and work environment.

Design: A cross-sectional survey of nurses working in ICUs was conducted in France between 15 January 2024 and 15 April 2024 alongside a longitudinal assessment of workload during the same period.

Methods: ICU nurse workload was assessed using the Nursing Activities Score (NAS).

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.

Disparities in dolutegravir utilisation in children, adolescents and young adults (0-24 years) living with HIV. An analysis of the IeDEA Pediatric West African cohort.

Introduction: We describe the 24-month incidence of Dolutegravir (DTG)-containing antiretroviral treatment (ART) initiation since its introduction in 2019 in West Africa.

Methods: We included all patients aged 0-24 years on ART from nine clinics in Côte d'Ivoire (n=4), Ghana, Nigeria, Mali, Benin, and Burkina Faso. Baseline varied by clinic and was defined as date of first DTG prescription; patients were followed up until database closure/death/loss to follow-up (LTFU, no visit ≥7 months), whichever came first.

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.

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.

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.

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.

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.