-Related Neurodevelopmental Disorder and Multiple Haemangiomas: A Novel Phenotypic Trait?

Background: Houge-Janssens syndrome 1 is a condition with onset in early childhood caused by heterozygous pathogenic variants in the gene, which encodes a B56 regulatory subunit of the serine/threonine protein phosphatase 2A (PP2A). There is evidence that the PP2A-PPP2R5D complex is involved in regulating the phosphatidylinositol 3-kinase (PI3K)/AKT signalling pathway, which is crucial for several cellular processes, including the pathogenesis and progression of haemangiomas.

Case Presentation: We report the first -related neurodevelopmental disorder case from Sardinia, a child with transient hypoglycaemia, facial dysmorphisms, and multiple haemangiomas.

Evaluation of Color Difference Models for Wide Color Gamut and High Dynamic Range.

Color difference models (CDMs) are essential for accurate color reproduction in image processing. While CDMs aim to reflect perceived color differences (CDs) from psychophysical data, they remain largely untested in wide color gamut (WCG) and high dynamic range (HDR) contexts, which are underrepresented in current datasets. This gap highlights the need to validate CDMs across WCG and HDR.

FeCl-Mediated Rearrangement of Aminoperoxides into Functionalized Tetrahydrofurans: Dynamic Non-innocence of O-Ligands at an Fe Center Coordinates a Radical Cascade.

The selective reaction of cyclic aminoperoxides with FeCl proceeds through a sequence of O-O and C-C bond cleavages, followed by intramolecular cyclization, yielding functionalized tetrahydrofurans in 44-82% yields. Replacing the peroxyacetal group in the peroxide structure with a peroxyaminal fragment fundamentally alters the reaction pathway. Instead of producing linear functionalized ketones, this modification leads to the formation of hard-to-access substituted tetrahydrofurans.

Interphase chromatin biophysics and mechanics: new perspectives and open questions.

The physical organization and properties of chromatin within the interphase nucleus are intimately linked to a wide range of functional DNA-based processes. In this context, interphase chromatin mechanics - that is, how chromatin, physically, responds to forces - is gaining increasing attention. Recent methodological advances for probing the force-response of chromatin in cellulo open new avenues for research, as well as new questions.

Chaperones vs. oxidative stress in the pathobiology of ischemic stroke.

As many proteins prioritize functionality over constancy of structure, a proteome is the shortest stave in the Liebig's barrel of cell sustainability. In this regard, both prokaryotes and eukaryotes possess abundant machinery supporting the quality of the proteome in healthy and stressful conditions. This machinery, namely chaperones, assists in folding, refolding, and the utilization of client proteins.

Basic ENT training for enhanced healthcare worker knowledge, attitudes and practices in a resource-limited setting: a pre-post and post-post cross-sectional study.

Introduction: Diagnostic errors in ear, nose and throat (ENT) diseases are prevalent among healthcare workers (HCWs) in resource-limited settings, yet comprehensive data that describe HCW knowledge, attitudes and practices (KAP) regarding ENT disease management remains scarce. Further, the impact of basic ENT training on HCW KAP in such settings is largely undetermined.

Objective: We assessed HCW KAP before and after basic training in ENT disease management.

Intensity correlations in the Wigner representation.

We derive a compact expression for the second-order correlation function [Formula: see text] of a quantum state in terms of its Wigner function, thereby establishing a direct link between [Formula: see text] and the state's shape in phase space. We conduct an experiment that simultaneously measures [Formula: see text] through direct photocounting and reconstructs the Wigner function via homodyne tomography. The results confirm our theoretical predictions.

Recent Updates on Alzheimer's Disease: Pathogenesis, Pathophysiology, Molecular Approaches and Natural Bioactive Compounds Used in Contemporary Time to Alleviate Disease.

Alzheimer's disease (AD), characterised by gradual memory loss and neurodegeneration, is an important risk to global health. Despite the recent advances in the field of neuroscience, the complex biological mechanisms underlying the aetiology and pathology of AD have not been elucidated yet. The development of amyloid-beta plaques, hyperphosphorylation of tau protein, oxidative stress, and neuroinflammation have been identified as important components.

[Comment on the article "Successful treatment of severe purulent peritonitis against the background of intra-abdominal hypertension syndrome"].

Comment on the article "Successful treatment of severe purulent peritonitis against the background of intra-abdominal hypertension syndrome".

From Inverse-Cascade to Subdiffusive Dynamic Scaling in Driven Disordered Bose Fluids.

We explore the emergence of universal dynamic scaling in an interacting Bose gas around the condensation transition, under the combined influence of an external driving force and spatial disorder. As time progresses, we find that the Bose gas crosses over three distinct dynamical regimes: (i) an inverse turbulent cascade where interactions dominate the drive, (ii) a stationary regime where the inverse cascade and the drive counterbalance one other, and (iii) a sub-diffusive cascade in energy space governed by the drive and disorder, a phenomenon recently observed experimentally. We show that all three dynamical regimes can be described by self-similar scaling laws.

EuPtPb and SrPtPb-lead-based intermetallics with YRhSn/NdRhSn-type polyanionic platinum-lead 3D frameworks.

Two platinide plumbides, EuPtPb and SrPtPb, were discovered using high-temperature exploratory synthesis and flux-assisted crystal growth. Their crystal structures were determined from single-crystal X-ray diffraction. Both compounds crystallize in the orthorhombic system; EuPtPb belongs to the YRhSn structure type (2, = 4.

Deconstruction of a memory engram reveals distinct ensembles recruited at learning.

How are associative memories formed? Which cells represent a memory, and when are they engaged? By visualizing and tagging cells based on their calcium influx with unparalleled temporal precision, we identified non-overlapping dorsal CA1 neuronal ensembles that are differentially active during associative fear memory acquisition. We dissected the acquisition experience into periods during which salient stimuli were presented or certain mouse behaviors occurred and found that cells associated with specific acquisition periods are sufficient alone to drive memory expression and contribute to fear engram formation. This study delineated the different identities of the cell ensembles active during learning, and revealed, for the first time, which ones form the core engram and are essential for memory formation and recall.

Advancements and challenges in brain cancer therapeutics.

Treating brain tumors requires a nuanced understanding of the brain, a vital and delicate organ. Location, size, tumor type, and surrounding tissue health are crucial in developing treatment plans. This review comprehensively summarizes various treatment options that are available or could be potentially available for brain tumors, including physical therapies (radiotherapy, ablation therapy, photodynamic therapy, tumor-treating field therapy, and cold atmospheric plasma therapy) and non-physical therapies (surgical resection, chemotherapy, targeted therapy, and immunotherapy).

High diversity of crustose coralline algae microbiomes across species and islands, and implications for coral recruits.

Background: Crustose Coralline Algae (CCA) play a crucial role in coral reef ecosystems, contributing significantly to reef formation and serving as substrates for coral recruitment. The microbiome associated with CCAs may promote coral recruitment, yet these microbial communities remain largely understudied. This study investigates the microbial communities associated with a large number of different CCA species across six different islands of French Polynesia, and assess their potential influence on the microbiome of coral recruits.

The baby duck syndrome as cognitive bias in user-interface interaction.

As technological interfaces are relatively new cultural tools, regular interaction can lead to new psychological phenomena, like the baby duck syndrome, where users favor old interfaces over updates. This syndrome is seen as a cognitive bias in human-computer interaction. Two studies were conducted: Study 1 on an Airbnb app (old vs.

[ArdA Protein Specificity against Type I Restriction-Modification Systems].

The ArdA DNA-mimic antirestriction proteins inhibit type I restriction-modification (RMI) systems by binding instead of DNA to RMI. The ArdA specificity to DNA methylation sites recognized by RMI complexes remains poorly understood; i.e.

Increasing Life Expectancy in Patients with Genitourinary Malignancies: Impact of Treatment Burden on Disease Management and Quality of Life.

Background And Objective: Treatment burden refers to the overall impact of medical treatments on a patient's well-being and daily life. Our objective is to evaluate the impact of treatment burden on quality of life (QoL) in patients with genitourinary (GU) malignancies, highlighting the importance of patient-reported outcomes (PROs) in clinical trials to inform treatment decisions and improve patient care.

Methods: We conducted a narrative review of clinical trials focused on GU malignancy (prostate, bladder, and kidney) between January 2000 and June 2024, analyzing related PROs and findings regarding treatment burden.

Specific postural alignment alterations due to long-face deformity in patients with maxillo-mandibular deformities.

Background: A specific pathological postural adaptation is suspected in patients exhibiting maxillo-mandibular deformity (MMD); however, none study reported a correlation between facial dimensions and posture. In this study, we hypothesized that pathological postural adaptations are related to long-face deformity and subsequent oral breathing in patients with MMD METHODS: Thirty patients with MMD and 20 healthy subjects. Breathing mode, postural alignment and cephalometry were analyzed through a biplanar X-ray (EOS imaging®) of the skeleton in an upright position, followed by three-dimensional reconstruction.

Hemodynamic Characteristics and Prognostic Implication of Modified Society for Cardiovascular Angiography and Interventions Shock Classification in Comatose Patients With Out-of-Hospital Cardiac Arrest.

Background: Cardiogenic shock complicating acute myocardial infarction is associated with a high mortality rate. Cardiogenic shock after out-of-hospital cardiac arrest (OHCA) can be due to transient myocardial stunning but also reflect the increasing severity of ongoing heart failure. The Society for Cardiovascular Angiography and Interventions (SCAI) proposed a division of cardiogenic shock into 5 phenotypes, with cardiac arrest being a modifier.

IDclust: Iterative clustering for unsupervised identification of cell types with single cell transcriptomics and epigenomics.

The increasing diversity of single-cell datasets require systematic cell type characterization. Clustering is a critical step in single-cell analysis, heavily influencing downstream analyses. However, current unsupervised clustering algorithms rely on biologically irrelevant parameters that require manual optimization and fail to capture hierarchical relationships between clusters.

Thermoresponsive gel embedding extracellular vesicles from adipose stromal cells improves the healing of colonic anastomoses following irradiation in rats.

Anastomotic leak occurrence is a severe complication after colorectal surgery. Considering the difficulty of treating these leaks and their impact on patient care, there is a strong need for an efficient prevention strategy. We evaluated a combination of extracellular vesicles (EVs) from rat adipose-derived stromal cells with a thermoresponsive gel, Pluronic® F127 (PF-127) to prevent anastomotic leaks.

Mechanical induction in metazoan development and evolution: from earliest multi-cellular organisms to modern animal embryos.

The development and origin of animal body forms have long been intensely explored, from the analysis of morphological traits during antiquity to Newtonian mechanical conceptions of morphogenesis. Advent of molecular biology then focused most interests on the biochemical patterning and genetic regulation of embryonic development. Today, a view is arising of development of multicellular living forms as a phenomenon emerging from non-hierarchical, reciprocal mechanical and mechanotransductive interactions between biochemical patterning and biomechanical morphogenesis.

The role of healthcare professionals' communication in trial participation decisions: a qualitative investigation of recruitment consultations and patient interviews across three RCTs.

Background: Although the challenges of recruiting to randomised controlled trials (RCTs) are well documented, few studies have focused on the impact that the communication between recruiters and patients has on patients' participation decisions. Recruiters are thought to influence patient decision-making, but the mechanisms by which this occurs are unclear. The aim of this research was to investigate how patients interpret and use the information conveyed to them by healthcare professionals (HCPs) in trial participation decisions.