Genome sequences of four Ixodes species expands understanding of tick evolution.

Background: Ticks, hematophagous Acari, pose a significant threat by transmitting various pathogens to their vertebrate hosts during feeding. Despite advances in tick genomics, high-quality genomes were lacking until recently, particularly in the genus Ixodes, which includes the main vectors of Lyme disease.

Results: Here, we present the genome sequences of four tick species, derived from a single female individual, with a particular focus on the European species Ixodes ricinus, achieving a chromosome-level assembly.

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.

Mixed vulnerabilities: the biological risk of high parity is aggravated by emergency referral in Benin, Malawi, Tanzania and Uganda.

Identification of interacting vulnerabilities is essential to reduce maternal and perinatal mortality in sub-Saharan Africa (SSA). High parity (≥ 5 previous births) is an underemphasized biological vulnerability linked to poverty and affecting a sizeable proportion of SSA births. Despite increased risk, high parity women rarely use hospitals for childbirth.

Effectiveness of the ARTHE-e app for exercise adherence in people with knee osteoarthritis: protocol for a randomised controlled trial.

Introduction: Osteoarthritis, the most prevalent joint disease, poses a significant challenge due to its progressive nature and impact on the whole joint and periarticular structures. Although exercise is crucial for symptom improvement and progression slowdown, adherence to exercise programmes remains a concern. In response, we have developed a novel smartphone-based m-health application, ARTH-e, specifically designed to enhance adherence to adapted physical activity in individuals with knee osteoarthritis.

Attentes des internes de médecine générale envers leur stage d'observation en pharmacie d'officine.

Objectives: The aim of this study was to collect the expectations of trainees in general practice towards their observation period in a community pharmacy, in order to contribute to a new definition of the objectives of this training period.

Methods: Data were collected using the nominal group technique. The eleven participants were ninth-year general medical students.

Enhancing Biomechanical Simulations Based on a Posteriori Error Estimates: The Potential of Dual-Weighted Residual-Driven Adaptive Mesh Refinement.

The finite-element method (FEM) is a well-established procedure for computing approximate solutions to deterministic engineering problems described by partial differential equations. FEM produces discrete approximations of the solution with a discretisation error that can be quantified with a posteriori error estimates. The practical relevance of error estimates for biomechanics problems, especially for soft tissue where the response is governed by large strains, is rarely addressed.

Respiratory failure as main presentation sign of MAPT-related disorder.

Introduction: The MAPT gene encodes Tau, a protein mainly expressed by neurons. Tau protein plays an important role in cerebral microtubule polymerization and stabilization, in axonal transport and synaptic plasticity. Heterozygous pathogenic variation in MAPT are involved in a spectrum of autosomal dominant neurodegenerative diseases known as taupathies, including Alzheimer's disease, Pick's disease, fronto-temporal dementia, cortico-basal degeneration and progressive supranuclear palsy.

Mitochondrial HMG-CoA synthase deficiency.

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 (HMGCS2) deficiency is a rare, potentially life-threatening autosomal recessive disorder resulting from mutations in the HMGCS2 gene, leading to impaired ketogenesis. We systematically reviewed the clinical presentations, biochemical and genetic abnormalities in 93 reported cases and 2 new patients diagnosed based on biochemical findings. Reported onset ages ranged from 3 months to 6 years, mostly before the age of 3.

Plasticity of human resilience mechanisms.

The hippocampus's vulnerability to trauma-induced stress can lead to pathophysiological disturbances that precipitate the development of posttraumatic stress disorder (PTSD). The mechanisms of resilience that foster remission and mitigate the adverse effects of stress remain unknown. We analyzed the evolution of hippocampal morphology between 2016/2017 and 2018/2019, as well as the memory control mechanisms crucial for trauma resilience.

Evaluation of In Vitro Inhibition of -Hematin Formation: A Step Towards a Comprehensive Understanding of the Mechanism of Action of New Arylamino Alcohols.

Currently, artemisinin-based combination therapy is recommended as first-line treatment of uncomplicated malaria. Arylamino alcohols (AAAs) such as mefloquine (MQ) are the preferred partner drugs due to their longer half-life, reliable absorption and strong antimalarial activity. However, the mode of action of MQ remains poorly understood and its neurotoxicity limits its use.

Epigenetic Disordering Drives Stemness, Senescence Escape and Tumor Heterogeneity.

Tumor heterogeneity is the substrate for tumor evolution and the linchpin of treatment resistance. Cancer cell heterogeneity is largely attributed to distinct genetic changes within each cell population. However, the widespread epigenome repatterning that characterizes most cancers is also highly heterogenous within tumors and could generate cells with diverse identities and malignant features.

PRDM9 drives the location and rapid evolution of recombination hotspots in salmonid fish.

In many eukaryotes, meiotic recombination occurs preferentially at discrete sites, called recombination hotspots. In various lineages, recombination hotspots are located in regions with promoter-like features and are evolutionarily stable. Conversely, in some mammals, hotspots are driven by PRDM9 that targets recombination away from promoters.

Respiratory muscle endurance training among patients with chronic diseases: A systematic review of available evidence.

This systematic review summarizes the available evidence on respiratory muscle endurance training involving voluntary isocapnic hyperpnoea among patients with chronic diseases. It includes both randomized and non-randomized controlled trials implementing this exercise training modality performed either alone or in combination with other interventions. It was conducted using the following databases: PubMed, Google Scholar, Physiotherapy Evidence Database (PEDro), Embase, CINAHL, CENTRAL, Cochrane and ReeDOC.

PIM2 inhibition promotes MCL1 dependency in plasma cells involving integrated stress response-driven NOXA expression.

Our study explores the complex dynamics of the integrated stress response (ISR) axis, highlighting PIM2 kinase's critical role and its interaction with the BCL2 protein family, uncovering key mechanisms of cell survival and tumor progression. Elevated PIM2 expression, a marker of various cancers, often correlates with disease aggressiveness. Using a model of normal and malignant plasma cells, we show that inhibiting PIM2 kinase inhibits phosphorylated BAD production and activates ISR-mediated NOXA expression.

Prevalence, Activity Limitations and Quality of Life in Patients with Non-Specific Neck Pain in Burundi: A Cross-Sectional Study.

Introduction: Non-specific neck pain (NSNP) causes a great deal of discomfort, impacting a person's functionality and quality of life. This study aimed to determine the prevalence, activity limitations, and quality of life in patients with NSNP in Burundi.

Patients And Methods: This was a cross-sectional study with descriptive and analytical aims, covering the period from September 2023 to February 2024.

Linking structural and functional changes during healthy aging and semantic dementia using multilayer brain network analysis.

Healthy aging is characterized by frontal and diffuse brain changes, while certain age-related pathologies such as semantic dementia will be associated with more focal brain lesions, particularly in the temporo-parietal regions. These changes in structural integrity could influence functional brain networks. Here we use multilayer brain network analysis on structural (DWI) and functional (fMRI) data in younger and older healthy individuals and patients with semantic dementia.

Does Trunk Self-Elongation Instruction Lead to Changes in Effective Trunk Height and Spino-Pelvic Parameters? A Radiographic Analysis.

Background/objectives: The aim of this study was to evaluate changes in trunk height and variations in spino-pelvic parameters during trunk self-elongation. Two populations were studied: non-athletes and gymnasts, who differ in their engagement with core-strengthening exercises.

Methods: EOS biplanar radiographs were taken on 14 non-athletes and 24 gymnasts in both neutral and trunk self-elongation positions.

Spine Kinematics Behavior During the Handstand Posture: A Biplanar Radiographic Analysis.

The handstand is an exercise performed in many sports, either for its own sake or as part of physical training. Unlike the upright bipedal standing posture, little is known about the sagittal alignment and balance of the spine during a handstand, which may hinder coaching and reduce the benefits of this exercise if not performed correctly. The purpose of this study was to quantify the sagittal alignment and balance of the spine during a handstand using radiographic images to characterize the strategies employed by the spino-pelvic complex during this posture.

Simultaneous death of two siblings, a Senna matter?

Senna is a medicinal herb commonly used as a laxative and dietary aid for weight loss. Repeated consumption of Senna may lead to persistent diarrhea. Furthermore, cases of acute liver failure and hepato-encephalopathic syndrome after chronic Senna ingestion were reported in literature.