The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.

Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndrome caused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation. This study expands the clinical and molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed BRPF1 variants. Our cohort presented with a wide range of clinical features including developmental delay, intellectual disability (ID) and characteristic dysmorphic facial features such as ptosis, blepharophimosis and a broad nasal bridge.

The 2025 motile active matter roadmap.

Activity and autonomous motion are fundamental aspects of many living and engineering systems. Here, the scale of biological agents covers a wide range, from nanomotors, cytoskeleton, and cells, to insects, fish, birds, and people. Inspired by biological active systems, various types of autonomous synthetic nano- and micromachines have been designed, which provide the basis for multifunctional, highly responsive, intelligent active materials.

Inferior outcome of stand-alone short versus long tibial stem in revision total knee arthroplasty. A retrospective comparative study with minimum 2 year follow-up.

Introduction: Revision Total Knee Arthroplasty (RTKA) is complex, and induced bone loss might endanger implant fixation and joint stability. Intramedullary stems improve fixation throughout stress redistribution. The current study aims to compare the performance of short tibial stems with long tibial stems, investigating their intermediate-term radiographic and survival outcomes in RTKA.

Binding-Site Switch for Protein Kinase CK2 Inhibitors.

The serine/threonine protein kinase CK2, a tetramer composed of a regulatory dimer (CK2β) bound to two catalytic subunits CK2α, is a well-established therapeutic target for various pathologies, including cancer and viral infections. Several types of CK2 inhibitors have been developed, including inhibitors that bind to the catalytic ATP-site, bivalent inhibitors that occupy both the CK2α ATP-site and the αD pocket, and inhibitors that target the CK2α/CK2β interface. Interestingly, the bivalent inhibitor AB668 shares a similar chemical structure with the interface inhibitor CCH507.

Formal guidelines from an expert panel: intensive care unit medical staffing, organisation and working hours to improve quality of life at work in France.

Background: Intensive care units (ICU) are characterized by high medical assistance costs and great complexity. Recommendations to determine the needs of medical staff are scarce, generating appreciable variability. The French Intensive Care Society (FICS) and the French National Council of Intensive Care Medicine (CNP MIR, Conseil National Professionel de Médecine Intensive Réanimation) have established a technical committee of experts, the purposes of which were to draft recommendations regarding staffing needs in ICUs and to propose optimal organisation of work hours, a key objective being improved workplace quality of life.

The SARS-CoV-2 nucleocapsid protein interferes with the full enzymatic activation of UPF1 and its interaction with UPF2.

The nonsense-mediated mRNA decay (NMD) pathway triggers the degradation of defective mRNAs and governs the expression of mRNAs with specific characteristics. Current understanding indicates that NMD is often significantly suppressed during viral infections to protect the viral genome. In numerous viruses, this inhibition is achieved through direct or indirect interference with the RNA helicase UPF1, thereby promoting viral replication and enhancing pathogenesis.

Percolation for 2D Classical Heisenberg Model and Exit Sets of Vector Valued GFF.

Our motivation in this paper is twofold. First, we study the geometry of a class of exploration sets, called , which are naturally associated with a 2D vector-valued Gaussian Free Field : . We prove that, somewhat surprisingly, these sets are a.

Whole blood ratio of mRNA expression combined to lactate refines the prediction of ICU mortality in septic patients in the Sepsis-3 era: a proof-of-concept study.

Background: Transcriptomics biomarkers have been widely used to predict mortality in patients with sepsis. However, the association between mRNA levels and outcomes shows substantial variability over the course of sepsis, limiting their predictive performance. We aimed to: (a) identify and validate an mRNA biomarker signature whose association with all-cause intensive care unit (ICU) mortality is consistent at several timepoints; and (b) evaluate how this mRNA signature could be used in association with lactate levels for predictive and prognostic enrichment in sepsis.

Neuropsychological Profile in Older Adults with End-Stage Kidney Disease during Kidney Transplantation Evaluation.

Background: End-stage chronic kidney disease (CKD) is a significant concern for older adults and is often associated with cognitive impairment (CI). The origin of this CI is multifactorial, involving vascular and metabolic factors. Additionally, renal treatments, including dialysis, may affect cognition.

Frankenstein matrices: Among-population life history variation affects the reliability and predictions of demographic models.

Population matrix models are routinely used to study the demography of wild populations and to guide management choices. When vital rates are unknown for a specific population or life history stage, researchers often replace them with estimates from other populations of the same species. Such 'hybrid' matrices might ignore among-population life history variation and lead to incorrect inferences.

[Continuity of care and the power of narrative in perinatal psychotrauma].

With the help of clinical vignettes, the authors present their approach to maternity care for exiled pregnant women at risk of psychotrauma. They emphasize the importance of co-constructing a life story to bridge discontinuities, and of working as a team with continuity to avoid further breakdowns. At stake is the birth of a baby, which may suffer from psychotraumatic sharing without adequate support.

Comparative transcriptomics in serial organs uncovers early and pan-organ developmental changes associated with organ-specific morphological adaptation.

Mice have evolved a new dental plan with two additional cusps on the upper molar, while hamsters were retaining the ancestral plan. By comparing the dynamics of molar development with transcriptome time series, we found at least three early changes in mouse upper molar development. Together, they redirect spatio-temporal dynamics to ultimately form two additional cusps.

Antimicrobial susceptibility and epidemiological types of Legionella pneumophila human isolates from Italy (1987-2020).

Objectives: Although antimicrobial resistance has not yet emerged as an overarching problem for Legionella pneumophila (L. pneumophila) infection, the description of clinical and environmental strains resistant to fluoroquinolones and macrolides is a cause of concern. This study aimed to investigate the antimicrobial susceptibility of L.

Breast Cancer Specificities of Patients With Anti-Ri Paraneoplastic Neurologic Syndromes.

Background And Objectives: Breast cancers (BCs) of patients with paraneoplastic neurologic syndromes and anti-Yo antibodies (Yo-PNS) overexpress human epidermal growth factor receptor 2 (HER2) and display genetic alterations and overexpression of the Yo-onconeural antigens. They are infiltrated by an unusual proportion of B cells. We investigated whether these features were also observed in patients with PNS and anti-Ri antibodies (Ri-PNS).

Enlightening the invisible: Applications, limits and perspectives of intraoperative fluorescence in neurosurgery.

Introduction: The introduction of intraoperative fluorophores represented a significant advancement in neurosurgical practice. Nowadays they found different applications: in oncology to improve the visualization of tumoral tissue and optimize resection rates and in vascular neurosurgery to assess the exclusion of vascular malformations or the permeability of bypasses, with real-time intraoperative evaluations.

Research Question: A comprehensive knowledge of how fluorophores work is crucial to maximize their benefits and to incorporate them into daily neurosurgical practice.

Improvement of bone properties in children with osteogenesis imperfecta after pamidronate: a bone biopsy study.

OI, or bone brittle disease, is characterized by increased mineralization of bone matrix independently of clinical severity. So, a beneficial effect of antiresorptive treatments such as bisphosphonates (BP) is questionable. We aim to compare the bone matrix characteristics before and after BP pamidronate (PAM).

The Unusual Mesophases and Properties Exhibited by a Family of Glycosteroids.

In this article we describe research on the synthesis and characterization of a family of "Janus" amphiphiles composed of disaccharide head groups and alkaloid units joined together via a methylene linker, and bearing a lateral aliphatic chain of varying length. The condensed phases formed by self-organization of the products as a function of temperature were characterized by differential scanning calorimetry, thermal polarized light microscopy, and small angle X-ray scattering, allied with computational modelling and simulations. Structural studies on heating specimens from the solid showed that some homologues exhibited lamellar, columnar and bicontinuous mesophases, whereas the same homologues revealed different phase sequences on cooling from the amorphous liquid.

Infection Reinforces the Defense Reactions in - Roots to the Detriment of Nodules.

, able to establish symbiosis with mutualistic bacteria of the genus , is one of the main species in European riparian environments, where it performs numerous biological and socio-economic functions. However, riparian ecosystems face a growing threat from , a highly aggressive waterborne pathogen causing severe dieback in . To date, the tripartite interaction between the host plant, the symbiont and the pathogen remains unexplored but is critical for understanding how pathogen-induced stress influences the nodule molecular machinery and so on the host-symbiont metabolism.

Systematic Approach to Parametrization of Disaccharides for the Martini 3 Coarse-Grained Force Field.

Sugars are ubiquitous in biology; they occur in all kingdoms of life. Despite their prevalence, they have often been somewhat neglected in studies of structure-dynamics-function relationships of macromolecules to which they are attached, with the exception of nucleic acids. This is largely due to the inherent difficulties of not only studying the conformational dynamics of sugars using experimental methods but indeed also resolving their static structures.

Effects of Relative Humidity on Time-Resolved Molecular Characterization of Secondary Organic Aerosols from the OH-Initiated Oxidation of Cresol in the Presence of NO.

While biomass burning (BB) is the largest source of fine particles in the atmosphere, the influence of relative humidity (RH) and photochemistry on BB secondary organic aerosol (BB-SOA) formation and aging remains poorly constrained. These effects need to be addressed to better capture and comprehend the evolution of BB-SOA in the atmosphere. Cresol (CHO) is used as a BB proxy to investigate these effects.

Medusa's gaze: Cell traces and fibrils but no collagen in permineralized Jurassic ichthyosaur bone.

Bone is formed by specialized cells whose activity allows bone to grow, change shape, and repair itself. Its composite structure of collagen fibrils and bioapatite nanocrystals gives bone exceptional mechanical strength. Using scanning electron microscopy, we show in fossil ichthyosaurs, 150 to 200 million years old, from the Jurassic of France and the UK, abundant and direct evidence of cellular activity on the fossilized forming, resting, and resorbing surfaces of bone trabeculae, as well as bone fibrils, Sharpey fibers, and cartilage fibers.

Intranasally administrated fusion-inhibitory lipopeptides block SARS-CoV-2 infection in mice and enable long-term protective immunity.

We have assessed antiviral activity and induction of protective immunity of fusion-inhibitory lipopeptides derived from the C-terminal heptad-repeat domain of SARS-CoV-2 spike glycoprotein in transgenic mice expressing human ACE2 (K18-hACE2). The lipopeptides block SARS-CoV-2 infection in cell lines and lung-derived organotypic cultures. Intranasal administration in mice allows the maintenance of homeostatic transcriptomic immune profile in lungs, prevents body-weight loss, decreases viral load and shedding, and protects mice from death caused by SARS-CoV-2 variants.