Publications by authors named "Mathieu A"

Resting natural killer (NK) cells display immediate effector functions after recognizing transformed or infected cells. The environmental nutrients and metabolic requirements to sustain these functions are not fully understood. Here, we show that NK cells rely on the use of extracellular pyruvate to support effector functions, signal transduction and cell viability.

View Article and Find Full Text PDF
Article Synopsis
  • Early-onset restrictive eating disorders (rEO-ED), including early-onset anorexia nervosa (EO-AN) and avoidant restrictive food intake disorders (ARFID), have unknown impacts on brain development.
  • A study comparing brain features through MRI in children under 13 with EO-AN, ARFID, and typically developing peers revealed differing brain structures despite similar BMI, indicating unique brain mechanisms for each disorder.
  • Findings suggest EO-AN is linked to thinner cortex structures, while ARFID patients showed reduced surface area and subcortical volume, highlighting the need for further research on the relationship between low BMI and neurodevelopmental impacts in eating disorders.
View Article and Find Full Text PDF

: The aim of the study was to compare dacryocystectomy (DCT) versus dacryocystorhinostomy (DCR) in patients with dacryocystitis in terms of tearing complaints. : We conducted a retrospective and comparative study on 19 patients. The main outcome measure was defined as an improvement by 1 point of the Munk score postoperatively.

View Article and Find Full Text PDF
Article Synopsis
  • NK cells often lose their function during tumor development, but the reasons for this are not fully understood.
  • In mouse lymphoma models, the activation of NK cells led to changes resembling T cell exhaustion, including the expression of immune checkpoint proteins, but dysfunction occurred only in the activated NK cell group.
  • Importantly, NK cell dysfunction can be reversed by stopping the stimulation and is positively influenced by interleukin-15, indicating that the dysfunction is a dynamic and reversible process not directly linked to immune checkpoint protein expression.
View Article and Find Full Text PDF

An exome sequencing strategy employed to identify pathogenic variants in patients with pediatric-onset systemic lupus or Evans syndrome resulted in the discovery of six novel monoallelic mutations in PTPN2. PTPN2 is a phosphatase that acts as an essential negative regulator of the JAK/STAT pathways. All mutations led to a loss of PTPN2 regulatory function as evidenced by in vitro assays and by hyperproliferation of patients' T cells.

View Article and Find Full Text PDF

Background: Critical-illness survivors may experience post-traumatic stress disorder (PTSD) and quality-of-life impairments. Resilience may protect against psychological trauma but has not been adequately studied after critical illness. We assessed resilience and its associations with PTSD and quality of life, and also identified factors associated with greater resilience.

View Article and Find Full Text PDF

Background And Aim: Direct-acting antivirals (DAAs) have revolutionised the management of chronic hepatitis C. We analysed the use of different generations of DAAs over time in Switzerland and investigated factors predictive of treatment failure.

Methods: This retrospective study was conducted within the framework of the Swiss Association for the Study of the Liver and the Swiss Hepatitis C Cohort Study; it included all patients with chronic hepatitis C treated with DAAs between January 2015 and December 2019 at eight Swiss referral centres.

View Article and Find Full Text PDF
Article Synopsis
  • DNA-PKcs is crucial for repairing DNA double-strand breaks and is linked to a rare immunodeficiency in humans, with few documented cases compared to the well-studied Scid mouse model.
  • Seven patients with mutations in the PRKDC gene showed severe combined immunodeficiency symptoms, including granulomas and autoimmunity, highlighting a predominantly inflammatory clinical picture.
  • Hematopoietic stem cell transplantation has proven effective for many, leading to meaningful recovery of T- and B-cell functions in the long-term follow-up of most patients.
View Article and Find Full Text PDF

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that is characterized by its large heterogeneity in terms of clinical presentation and severity. The pathophysiology of SLE involves an aberrant autoimmune response against various tissues, an excess of apoptotic bodies, and an overproduction of type-I interferon. The genetic contribution to the disease is supported by studies of monozygotic twins, familial clustering, and genome-wide association studies (GWAS) that have identified numerous risk loci.

View Article and Find Full Text PDF
Article Synopsis
  • Pemphigoid vegetans is a rare form of bullous pemphigoid, with only 13 documented cases in medical literature.
  • A case study involved a 63-year-old woman with painful lesions that progressed over four months, exhibiting specific histological features.
  • The condition was diagnosed through histopathology and immunofluorescence, and it was effectively treated with oral corticosteroids, dapsone, and mycophenolate mofetil.
View Article and Find Full Text PDF

Objective: This study aimed to develop a deep learning (DL) model, named 'DeepAlienorNet', to automatically extract clinical signs of age-related macular degeneration (AMD) from colour fundus photography (CFP).

Methods And Analysis: The ALIENOR Study is a cohort of French individuals 77 years of age or older. A multi-label DL model was developed to grade the presence of 7 clinical signs: large soft drusen (>125 μm), intermediate soft (63-125 μm), large area of soft drusen (total area >500 μm), presence of central soft drusen (large or intermediate), hyperpigmentation, hypopigmentation, and advanced AMD (defined as neovascular or atrophic AMD).

View Article and Find Full Text PDF

Introduction: Photoplethysmogram signals from wearable devices typically measure heart rate and blood oxygen saturation, but contain a wealth of additional information about the cardiovascular system. In this study, we compared two signal-processing techniques: fiducial point analysis and Symmetric Projection Attractor Reconstruction, on their ability to extract new cardiovascular information from a photoplethysmogram signal. The aim was to identify fiducial point analysis and Symmetric Projection Attractor Reconstruction indices that could classify photoplethysmogram signals, according to age, sex and physical activity.

View Article and Find Full Text PDF
Article Synopsis
  • Fixed drug eruption (FDE) is a recurring skin reaction triggered by certain medications, with limited data available on its occurrence in children.
  • A systematic review analyzed 92 articles, involving 233 pediatric patients, finding that antibiotics—especially sulfonamides—were the most common triggers, and supportive therapy was predominantly used for treatment.
  • The review noted that drug testing, like oral provocation tests, is safe for children, and the clinical features did not significantly differ between those who were tested and those who were not.
View Article and Find Full Text PDF
Article Synopsis
  • The text discusses the creation of a bibliometric dataset focused on green jobs, comprising 414 articles from major academic databases, to analyze sustainable transitions in the labor market from 1995 to 2022.
  • The dataset includes 13 descriptive variables and aims to provide insights into the academic discussions surrounding green jobs and ecological transitions, especially relevant in today's green economy context.
  • It emphasizes the potential for using this data for further comparative analyses, enhancing it with additional literature, and encouraging multidisciplinary and multilingual research efforts.
View Article and Find Full Text PDF

Objectives: To evaluate the prevalence, magnitude, and potential determinants of work productivity impairment in patients with Behçet's Syndrome (BS), focusing on the role of irreversible organ damage.

Methods: A post-hoc analysis of the BS overall damage index (BODI) prospective validation study was performed. Demographics and clinical features were recorded in all patients.

View Article and Find Full Text PDF

Objectives: To explore the effects of anti-ribosomal P protein (anti-P) and anti-N-methyl-D-aspartic acid receptor subunit 2 (anti-NR2) autoantibodies on depression and cognitive dysfunction and their relationships with functional brain connectivity in SLE.

Methods: This cross-sectional study included adult patients who fulfilled the American College of Rheumatology/European Alliance of Associations for Rheumatology 2019 SLE criteria. Anti-P and anti-NR2 were quantified using ELISA.

View Article and Find Full Text PDF

Purpose: Protein kinase C δ (PKCδ) deficiency is a rare genetic disorder identified as a monogenic cause of systemic lupus erythematosus in 2013. Since the first cases were described, the phenotype has expanded to include children presenting with autoimmune lymphoproliferative syndrome-related syndromes and infection susceptibility similar to chronic granulomatous disease or combined immunodeficiency. We review the current published data regarding the pathophysiology, clinical presentation, investigation and management of PKCδ deficiency.

View Article and Find Full Text PDF

Myiasis is an ectoparasitic infection caused by the larvae of true flies (Diptera). We came across a rather rare case of myiasis in an immunocompetent 34-year-old man from French Guiana with advanced wound myiasis masquerading as cavitary myiasis and a history of cholesteatoma surgery in the left ear. The Diptera larvae responsible for the disease were isolated and identified using morphological and molecular approaches as We underline the importance of this parasitosis as the second case of myiasis caused by and the first case of wound myiasis in this overseas department of France and its incidence in pre-urban areas of the capital, Cayenne, in South America.

View Article and Find Full Text PDF

Introduction: The pathogenesis of neuropsychiatric systemic lupus erythematosus (NPSLE) is widely unknown, and the role of autoantibodies is still undetermined.

Methods: To identify brain-reactive autoantibodies possibly related to NPSLE, immunofluorescence (IF) and transmission electron microscopy (TEM) on rat and human brains were performed. ELISA was used to reveal the presence of known circulating autoantibodies, while western blot (WB) was applied to characterize potential unknown autoantigen(s).

View Article and Find Full Text PDF
Article Synopsis
  • Over 100 genes are linked to autism, but the prevalence of rare genetic variants in people without an autism diagnosis is not well understood.
  • This study analyzed data from over 13,000 individuals with autism and 210,000 without, finding that rare loss-of-function variants in autism-associated genes negatively impact intelligence, education, and income.
  • Brain imaging data showed no significant anatomical differences related to these variants, suggesting a need for more research on how genetic factors influence individual experiences beyond autism diagnosis.
View Article and Find Full Text PDF

Subgingival microbiome dysbiosis promotes the development of periodontitis, an irreversible chronic inflammatory disease associated with metabolic diseases. However, studies regarding the effects of a hyperglycemic microenvironment on host-microbiome interactions and host inflammatory response during periodontitis are still scarce. Here, we investigated the impacts of a hyperglycemic microenvironment on the inflammatory response and transcriptome of a gingival coculture model stimulated with dysbiotic subgingival microbiomes.

View Article and Find Full Text PDF
Article Synopsis
  • Autosomal recessive PRKCD deficiency is linked to systemic lupus erythematosus, but its specific mechanisms are not well understood.
  • Researchers created a mouse model with the Prkcd G510S mutation to study the disease, which mimics human symptoms and shows a shortened lifespan.
  • The study found that this mutation affects B cell activation through the PI3K/mTOR pathway, leading to autoimmune symptoms that improve with rapamycin treatment, highlighting the pathway's role in PRKCD-related autoimmunity and reduced NK cell levels contributing to viral infection susceptibility.
View Article and Find Full Text PDF

JNJ-42491293 is a metabotropic glutamate 2 (mGlu) positive allosteric modulator (PAM) that was radiolabelled with [C]- to serve as a positron emission tomography (PET) ligand. Indeed, in vitro, the molecule displays high selectivity at mGlu receptors. However, PET experiments performed in rats, macaques and humans, have suggested that [C]-JNJ-42491293 could interact with an unidentified, non-mGlu receptor binding site.

View Article and Find Full Text PDF
Article Synopsis
  • SHANK3-related Phelan-McDermid syndrome (PMS) arises from the loss of part of chromosome 22, impacting the SHANK3 gene, leading to a range of symptoms like developmental delay, language issues, autism, and epilepsy.
  • Genetic variations, including different sizes of deletions, can affect how severely these symptoms manifest in patients, indicating that not all cases of PMS involve SHANK3 directly.
  • The review highlights 110 genes in the 22q13 region that may play a role in neurodevelopmental disorders, suggesting the need for future studies to better understand these connections and improve care for PMS patients.
View Article and Find Full Text PDF