Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study.

Background And Objective: Adult patients with early-treated phenylketonuria (AwET-PKU) may present some subtle neurocognitive deficits. The aim of the study was to investigate 1) neurocognitive functions in a large group of AwET-PKU 2) the influence of plasma phenylalanine (Phe).

Methods: Participants: 187 AwET-PKU (classic PKU [cPKU] 81%, mild PKU [mPKU] 14%, and mild persistent hyperphenylalaninemia [MPH] 5%).

Strain phylogroup and environmental constraints shape Escherichia coli dynamics and diversity over a twenty-year human gut time series.

Escherichia coli is an increasingly antibiotic-resistant opportunistic pathogen. Few data are available on its ecological and evolutionary dynamics in its primary commensal niche, the vertebrate gut. Using Illumina and/or Nanopore technologies, we sequenced whole genomes of 210 E.

Finding the last bits of positional information.

In a developing embryo, information about the position of cells is encoded in the concentrations of morphogen molecules. In the fruit fly, the local concentrations of just a handful of proteins encoded by the gap genes are sufficient to specify position with a precision comparable to the spacing between cells along the anterior-posterior axis. This matches the precision of downstream events such as the striped patterns of expression in the pair-rule genes, but is not quite sufficient to define unique identities for individual cells.

Variation in lumbar regional kyphosis between supine and standing positions. Implications for spinal fracture management.

Purpose: The variation of lumbar lordosis between standing and supine position is poorly explored in literature. This study sought to analyze variation of lumbar regional angulations (RA) in healthy volunteers between standing and supine positions, according to pelvic incidence (PI).

Methods: This study included 171 patients who had an abdominal CT-scan in supine position and 879 healthy volunteers with full-body stereoradiographs.

Actin-based deformations of the nucleus control mouse multiciliated ependymal cell differentiation.

Ependymal cells (ECs) are multiciliated cells in the brain that contribute to cerebrospinal fluid flow. ECs are specified during embryonic stages but differentiate later in development. Their differentiation depends on genes such as GEMC1 and MCIDAS in conjunction with E2F4/5 as well as on cell-cycle-related factors.

ABCG1 orchestrates adipose tissue macrophage plasticity and insulin resistance in obesity by rewiring saturated fatty acid pools.

The mechanisms governing adipose tissue macrophage (ATM) metabolic adaptation during diet-induced obesity (DIO) are poorly understood. In obese adipose tissue, ATMs are exposed to lipid fluxes, which can influence the activation of specific inflammatory and metabolic programs and contribute to the development of obesity-associated insulin resistance and other metabolic disorders. In the present study, we demonstrate that the membrane ATP-binding cassette g1 (Abcg1) transporter controls the ATM functional response to fatty acids (FAs) carried by triglyceride-rich lipoproteins, which are abundant in high-energy diets.

Genomic perspective on the bacillus causing paratyphoid B fever.

Paratyphoid B fever (PTB) is caused by an invasive lineage (phylogroup 1, PG1) of Salmonella enterica serotype Paratyphi B (SPB). However, little was known about the global population structure, geographic distribution, and evolution of this pathogen. Here, we report a whole-genome analysis of 568 historical and contemporary SPB PG1 isolates, obtained globally, between 1898 and 2021.

MIBiG 4.0: advancing biosynthetic gene cluster curation through global collaboration.

Specialized or secondary metabolites are small molecules of biological origin, often showing potent biological activities with applications in agriculture, engineering and medicine. Usually, the biosynthesis of these natural products is governed by sets of co-regulated and physically clustered genes known as biosynthetic gene clusters (BGCs). To share information about BGCs in a standardized and machine-readable way, the Minimum Information about a Biosynthetic Gene cluster (MIBiG) data standard and repository was initiated in 2015.

Exploring the diversity of anti-defense systems across prokaryotes, phages and mobile genetic elements.

The co-evolution of prokaryotes, phages and mobile genetic elements (MGEs) has driven the diversification of defense and anti-defense systems alike. Anti-defense proteins have diverse functional domains, sequences and are typically small, creating a challenge to detect anti-defense homologs across prokaryotic and phage genomes. To date, no tools comprehensively annotate anti-defense proteins within a desired sequence.

Exploring brain perfusion in dogs with meningoencephalitis of unknown origin: A promising role for arterial spin labeling imaging.

Background: Arterial spin labeling (ASL) is a noninvasive brain perfusion magnetic resonance imaging (MRI) technique that has not been assessed in dogs with meningoencephalitis of unknown origin (MUO).

Hypothesis/objectives: Assess brain perfusion changes characteristics before and after medical treatment, and investigate the role of ASL perfusion in the diagnosis and prognosis of MUO in dogs.

Animals: Thirty-one dogs with presumed MUO.

Kinetic principles of chemical cross-link formation for protein-protein interactions.

Proteins play a central role in most biological processes within the cell, and deciphering how they interact is key to understand their function. Cross-linking coupled with mass spectrometry is an essential tool for elucidating protein-protein interactions (PPIs). Despite its importance, we still know surprisingly little about the principles that underlie the process of chemical cross-link formation itself and how it is influenced by different physicochemical factors.

Epigenetic control of myogenic identity of human muscle stem cells in Duchenne muscular dystrophy.

In Duchenne muscular dystrophy (DMD), muscle stem cells' (MuSCs) regenerative capacities are overwhelmed leading to fibrosis. Whether MuSCs have intrinsic defects or are disrupted by their environment is unclear. We investigated cell behavior and gene expression of MuSCs from DMD or healthy human muscles.

Reflector-guided localization compared with wire-guided localization for non-palpable breast cancer resection: organizational impacts and costs analysis.

Background: Wire-guided localization (WGL) for non-palpable breast cancer lesions has drawbacks like wire migration, localization difficulties, and logistical challenges. Wireless methods, such as reflector-guided localization (RGL), address these issues and are compatible with breast MRI. This study evaluates the organizational and cost impacts of RGL compared to WGL.

Long term noninvasive respiratory support in children with OSA-I and OSA-II: Data of a nation-wide study.

Purpose: The aim of the study was to analyze the characteristics of otherwise healthy children with obstructive sleep apnea (OSA; OSA-I) and children with OSA and non-syndromic obesity (OSA-II) treated with long term continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in 2019 in France.

Methods: Data were collected from a national survey on paediatric home noninvasive ventilatory support. CPAP/NIV initiation criteria and duration, age at CPAP/NIV initiation, equipment used and CPAP/NIV settings, and objective compliance were analyzed.

Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and most often severe genodermatosis characterized by recurrent blistering and erosions of the skin and mucous membranes after minor trauma, leading to major local and systemic complications. RDEB is caused by loss-of-function mutations in COL7A1 encoding type VII collagen (C7), the main component of anchoring fibrils which form attachment structures stabilizing the cutaneous basement membrane zone. Most of the previously reported COL7A1 mutations are located in the coding or intronic regions.

Epidemiology of aortic and peripheral arterial diseases in France.

Background: Peripheral arterial diseases (PADs) account for much of the morbidity and hospitalizations experienced by patients with cardiovascular disease. Epidemiological data on these diseases are lacking in France.

Aims: To describe the epidemiology of aortic diseases (aneurysm and dissection) and PADs in France in 2022.

Myosin 1b regulates intestinal epithelial morphogenesis via interaction with UNC45A.

Vesicle trafficking and the establishment of apicobasal polarity are essential processes in epithelial morphogenesis. UNC45A deficiency has been reported in a multi-organ syndrome presenting with severe diarrhea associated with enterocyte polarity defects. Myosin 1b, an actin motor able to bind membranes, regulates membrane shaping and vesicle trafficking.

[Cardiopulmonary exercise testing: Key practical aspects].

Functional exercise testing (FET) assesses an individual's capacity to adapt to effort and identifies limiting factors, particularly dyspnea. It orients therapeutic choices, predicts the progression of chronic pathologies, and estimates preoperative risks, at times contraindicating surgery. The aim of this article is to provide a summary of the specific indications for functional exercise testing, test protocol selection, test equipment, appropriate personnel, and patient and test safety.

Epidemiology of venous thromboembolism in France.

Background: Few epidemiological data are available for venous thromboembolism (VTE) at French national and subnational levels.

Aims: To quantify VTE events in France in 2022 and describe the features of hospital management and outcomes.

Methods: Adults hospitalized for a VTE as the primary reason for hospitalization or treatment in a medical unit in 2022 were identified from medical administrative data.

RANKL treatment restores thymic function and improves T cell-mediated immune responses in aged mice.

Age-related thymic involution, leading to reduced T cell production, is one of the major causes of immunosenescence. This results in an increased susceptibility to cancers, infections, and autoimmunity and in reduced vaccine efficacy. Here, we identified that the receptor activator of nuclear factor κB (RANK)-RANK ligand (RANKL) axis in the thymus is altered during aging.