Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity.

Objective: Fetal intracranial hemorrhage (FICH) is a rare and potentially deleterious condition. Fetal alloimmune thrombocytopenia and pathogenic variations in COL4A1/A2 genes are well-recognized causes of FICH. However, pathogenic COL4A1/A2 variations are identified in only 20% of fetuses referred for FICH after excluding other known causes, leaving the majority unexplained and making genetic counseling difficult.

User Experience of a Semi-Immersive Musical Serious Game to Stimulate Cognitive Functions in Hospitalized Older Patients: Questionnaire Study.

Background: Reminiscence therapy through music is a psychosocial intervention with benefits for older patients with neurocognitive disorders. Therapies using virtual or augmented reality are efficient in ecologically assessing, and eventually training, episodic memory in older populations. We designed a semi-immersive musical game called "A Life in Songs," which invites patients to immerse themselves in a past era through visuals and songs from that time period.

Simulating Early Phonetic and Word Learning Without Linguistic Categories.

Before they even talk, infants become sensitive to the speech sounds of their native language and recognize the auditory form of an increasing number of words. Traditionally, these early perceptual changes are attributed to an emerging knowledge of linguistic categories such as phonemes or words. However, there is growing skepticism surrounding this interpretation due to limited evidence of category knowledge in infants.

Outcome measures used in the evaluation of adult upper-limb prostheses - kinematic and functional aspects: A scoping review.

The abandonment rates of upper-limb (UL) prostheses are concerning and are related to limitations in the functional and kinematic aspects of the UL prosthesis. Evaluating the usability of prostheses is essential to make improvements in relation to these aspects and develop effective equipment and inform clinical results relevant to rehabilitation. The purpose of this scoping review is to explore the current state of the literature, the characteristics of studies on the topic, and the main parameters and instruments used to evaluate UL prosthesis, regarding kinematic and functional aspects.

Depressive symptoms in older adults are associated with changes in stress-related markers, functional connectivity and brain volume.

Background: Subclinical depressive symptoms increase the risk of developing Alzheimer's disease (AD). The neurobiological mechanisms underlying this link may involve stress system dysfunction, notably related to the hippocampus which is particularly sensitive to AD. We aimed to investigate the links between blood stress markers and changes in brain regions involved in the stress response in older adults with or without subclinical depressive symptoms.

Neuroprotection by chronic administration of Fluoroethylnormemantine (FENM) in mouse models of Alzheimer's disease.

Background: Fluoroethylnormemantine (FENM), a new Memantine (MEM) derivative, prevented amyloid-β[25-35] peptide (Aβ)-induced neurotoxicity in mice, a pharmacological model of Alzheimer's disease (AD) with high predictive value for drug discovery. Here, as drug infusion is likely to better reflect drug bioavailability due to the interspecies pharmacokinetics variation, we analyzed the efficacy of FENM after chronic subcutaneous (SC) infusion, in comparison with IP injections in two AD mouse models, Aβ-injected mice and the transgenic APP/PSEN1 (APP/PS1) line.

Methods: In Aβ-treated mice, FENM was infused at 0.

The association between perceived neighborhood social cohesion and intimate partner violence in a refugee camp in Dollo Ado, Ethiopia.

Background: Intimate partner violence (IPV) is the most common form of gender-based violence affecting women and girls worldwide and is exacerbated in humanitarian settings. There is evidence that neighborhood social processes influence IPV. Perceived neighborhood social cohesion (P-NSC)-a measure of community trust, attachment, safety, and reciprocity-may be protective against women's experience of and men's perpetration of IPV and controlling behaviors.

Predicting emergency department admissions using a machine-learning algorithm: a proof of concept with retrospective study.

Introduction: Overcrowding in emergency departments (ED) is a major public health issue, leading to increased workload and exhaustion for the teams, resulting poor outcomes. It seems interesting to be able to predict the admissions of patients in the ED.

Aim: The main objective of this study was to build and test a prediction tool for ED admissions using artificial intelligence.

Deep analysis of the major histocompatibility complex genetic associations using covariate analysis and haploblocks unravels new mechanisms for the molecular etiology of Elite Control in AIDS.

Introduction: We have reanalyzed the genomic data from the International Collaboration for the Genomics of HIV (ICGH), focusing on HIV-1 Elite Controllers (EC).

Methods: A genome-wide association study (GWAS) was performed, comparing 543 HIV-1 EC individuals with 3,272 uninfected controls (CTR) of European ancestry. 8 million single nucleotide polymorphisms (SNPs) and HLA class I and class II gene alleles were imputed to compare EC and CTR.

Cuttlefish favour their current need to hide rather than their future need for food.

Episodic memory and future thinking are generally considered as two parts of the same mental time travelling system in vertebrates. Modern cephalopods, with their independent evolutionary lineage and their complex cognitive abilities, appear as promising species to determine whether these abilities have separate evolutionary histories or not. In our study, we tested future-planning abilities in a cephalopod species which has been shown to possess episodic-like memory abilities: the common cuttlefish.

Deep brain stimulation and Parkinson disease: a bibliometric and visual analysis (1993-2023).

Deep brain stimulation (DBS) effectively treats Parkinson's disease (PD) motor symptoms, highlighting a gap in understanding current research trends and future directions. This study aims to analyze DBS literature systematically using bibliometric methods to map trends and identify opportunities. A total of 6,041 publications on DBS for PD from 1993 to 2023 were retrieved from the Web of Science Core Collection (WoSCC) on July 24, 2023.

Pulmonary Consequences of Surgical Treatment in Children's Primary Lung Tumors: A National Retrospective Study.

Background And Aims: Primary lung tumors (PLTs) in children are rare, and surgery remains the key to ensure remission. Here we describe the PLTs clinical characteristics, their management, and the pulmonary outcome following surgery.

Methods: We carried out a French national cohort of pediatric PLTs from 2013 to 2023 from the FRACTURE rare pediatric tumors national database.

Joint EANM/EANO/RANO/SNMMI practice guideline/procedure standard for PET imaging of brain metastases: version 1.0.

This joint practice guideline/procedure standard was collaboratively developed by the European Association of Nuclear Medicine (EANM), the Society of Nuclear Medicine and Molecular Imaging (SNMMI), the European Association of Neuro-Oncology (EANO), and the PET task force of the Response Assessment in Neurooncology Working Group (PET/RANO). Brain metastases are the most common malignant central nervous system (CNS) tumors. PET imaging with radiolabeled amino acids and to lesser extent [F]FDG has gained considerable importance in the assessment of brain metastases, especially for the differential diagnosis between recurrent metastases and treatment-related changes which remains a limitation using conventional MRI.

Synthesis of single-crystalline sp-carbon-linked covalent organic frameworks through imine-to-olefin transformation.

sp-carbon-linked covalent organic frameworks (spc-COFs) are crystalline porous polymers with repeat organic units linked by sp carbons, and have attracted increasing interest due to their robust skeleton and tunable semiconducting properties. Single-crystalline spc-COFs with well-defined structures can represent an ideal platform for investigating fundamental physics properties and device performance. However, the robust olefin bonds inhibit the reversible-reaction-based crystal self-correction, thus yielding polycrystalline or amorphous polymers.

Physiologically Based Pharmacokinetic Model of Cefotaxime in Patients with Impaired Renal Function.

Background: Cefotaxime is a widely prescribed cephalosporin antibiotic used to treat various infections. It is mainly eliminated unchanged by the kidney through tubular secretion and glomerular filtration. Therefore, a reduction of kidney function may increase exposure to the drug and induce toxic side effects.

Collective dynamical regimes predict invasion success and impacts in microbial communities.

The outcomes of ecological invasions may depend on either characteristics of the invading species or attributes of the resident community. Here we use a combination of experiments and theory to show that the interplay between dynamics, interaction strength and diversity determine the invasion outcome in microbial communities. We find that the communities with fluctuating species abundances are more invasible and diverse than stable communities, leading to a positive diversity-invasibility relationship among communities assembled in the same environment.

Association of real life postural transitions kinematics with fatigue in neurodegenerative and immune diseases.

Fatigue is prevalent in immune-mediated inflammatory and neurodegenerative diseases, yet its assessment relies largely on patient-reported outcomes, which capture perception but not fluctuations over time. Wearable sensors, like inertial measurement units (IMUs), offer a way to monitor daily activities and evaluate functional capacity. This study investigates the relationship between sit-to-stand and stand-to-sit transitions and self-reported physical and mental fatigue in participants with Parkinson's, Huntington's, rheumatoid arthritis, systemic lupus erythematosus, primary Sjögren's syndrome and inflammatory bowel disease.

Invasive macroalgae shape chemical and microbial waterscapes on coral reefs.

Over the past decades, human impacts have changed the structure of tropical benthic reef communities towards coral depletion and macroalgal proliferation. However, how these changes have modified chemical and microbial waterscapes is poorly known. Here, we assessed how the experimental removal of macroalgal assemblages influences the chemical and microbial composition of two reef boundary layers, the benthic and the momentum.

Determination of antibacterial and antioxidant potential of organic crude extracts from Malus domestica, Cinnamomum verum and Trachyspermum ammi.

Plants are the rich source of biologically active compounds which can be obliging against various pathogenic microorganisms and cancerous diseases. The current study evaluated the antibacterial potential of aqueous, methanol, ethanol, and acetone extracts of Malus domestica (apple), Cinnamomum verum (cinnamon) and Trachyspermum ammi (ajwain) via agar well diffusion methods and minimum inhibitory concentration (MIC) in (mm) against Staphylococcus aureus (ATCC 25923) and Salmonella typhi (ATCC 19430). The antioxidant properties including total phenolic content (TPC), total flavonoid content (TFC), DPPH and reducing power was determined by UV/VIS spectrophotometery and all the results interpreted through one way ANOVA (STATISTICA).

The circadian clock gene period regulates the composition and daily bacterial load of the gut microbiome in Drosophila melanogaster.

While Drosophila melanogaster serves as a crucial model for investigating both the circadian clock and gut microbiome, our understanding of their relationship in this organism is still limited. Recent analyses suggested that the Drosophila gut microbiome modulates the host circadian transcriptome to minimize rapid oscillations in response to changing environments. Here, we examined the composition and abundance of the gut microbiota in wild-type and arrhythmic per flies, under 12 h:12 h light: dark (12:12 LD) and constant darkness (DD) conditions.