Publications by authors named "Rossignol E"

Background/objectives: Nearly 10% of cancers could be prevented through dietary changes. In addition, breast cancer (BC) is the most common cancer in women worldwide. Inadequate diet may lead to several metabolic abnormalities, including metabolic syndrome (MS).

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RNA polymerase III (POLR3)-related leukodystrophy is a rare, neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Despite the challenges of caring for a child with POLR3-related leukodystrophy, few studies have examined parents' disease burden. We sought to investigate quality of life and stress levels amongst parents of children with POLR3-related leukodystrophy.

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  • The TRIO gene has been linked to intellectual deficiency, autism spectrum disorder, and developmental epileptic encephalopathies due to recessive and de novo mutations.
  • Research indicates that TRIO is essential for the migration of GABAergic interneurons, specifically regulating their movement during brain development through its guanine nucleotide exchange factor (GEF) domains.
  • In studies involving Trio mutant mice, findings revealed reduced numbers of migrating interneurons, leading to increased seizures and behavioral issues, highlighting TRIO's crucial role in maintaining cortical inhibition and proper neuronal migration dynamics.
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  • GTPases from the Rab family play a crucial role in membrane trafficking, and issues with these proteins have been linked to various neurological disorders, particularly involving RAB11A variants causing developmental and epileptic encephalopathy.
  • The study examined 16 patients with RAB11A variants, mostly de novo heterozygous missense mutations, finding that these variants are associated with intellectual disability, developmental delays, and a range of other physical and neurological symptoms.
  • The research suggests that while epilepsy is less common and less severe in patients with binding site mutations, the RAB11A neurodevelopmental disorder can affect multiple body systems, including gait, muscle tone, brain structure, and even fat distribution.
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CACNA1A-related disorders are rare neurodevelopmental disorders linked to variants in the CACNA1A gene. This gene encodes the α1 subunit of the P/Q-type calcium channel Cav2.1, which is globally expressed in the brain and crucial for fast synaptic neurotransmission.

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Introduction: Pediatric frontal and temporal lobe epilepsies (FLE, TLE) have been associated with language impairments and structural and functional brain alterations. However, there is no clear consensus regarding the specific patterns of cerebral reorganization of language networks in these patients. The current study aims at characterizing the cerebral language networks in children with FLE or TLE, and the association between brain network characteristics and cognitive abilities.

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Currently licensed influenza vaccines focus immune responses on viral hemagglutinin (HA), while the other major surface glycoprotein neuraminidase (NA) is not tightly controlled in inactivated vaccine formulations despite evidence that anti-NA antibodies reduce clinical disease. We utilized a bicistronic self-amplifying mRNA (sa-mRNA) platform encoding both HA and NA from four seasonal influenza strains, creating a quadrivalent influenza vaccine. sa-mRNA vaccines encoding an NA component induced the production of NA-inhibiting antibodies and CD4 T-cell responses in both monovalent and quadrivalent formulations.

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Cortical GABAergic interneurons are critical components of neural networks. They provide local and long-range inhibition and help coordinate network activities involved in various brain functions, including signal processing, learning, memory and adaptative responses. Disruption of cortical GABAergic interneuron migration thus induces profound deficits in neural network organization and function, and results in a variety of neurodevelopmental and neuropsychiatric disorders including epilepsy, intellectual disability, autism spectrum disorders and schizophrenia.

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The vacuolar H-ATPase is a multisubunit enzyme which plays an essential role in the acidification and functions of lysosomes, endosomes, and synaptic vesicles. Many genes encoding subunits of V-ATPases, namely and , have been associated with neurodevelopmental disorders and epilepsy. The autosomal dominant p.

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  • MOGAD is a newly identified neuroinflammatory disease characterized by the presence of anti-MOG antibodies, with symptoms varying widely among patients.
  • A study conducted in Quebec found a prevalence of 0.52 cases per 100,000 people, with optic neuritis and acute disseminated encephalomyelitis being the most common initial symptoms.
  • Only 38% of patients fully recovered within 4 weeks, and a significant number of patients experienced relapses and residual deficits, indicating a serious disease course for many.*
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Aim: During an exercise-related sudden cardiac arrest, bystander automated external defibrillator use occurred in a median of 31%. The present study conducted in France evaluated the feasibility and impact of a brief intervention by general practitioners (GPs) to increase awareness about first aid/CPR training among amateur sportspeople.

Methods: In 2018, 49 French GPs proposed a brief intervention to all patients who attended a consultation in order to obtain a medical certificate attesting their fitness to participate in sports.

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Background: Delirium is well-recognized in adult inpatient care. However, it is often overlooked in children, being mistaken for pain, anxiety, or age-appropriate agitation.

Methods: To assess the impact of a formal teaching session on the diagnostic rates and management of pediatric delirium (PD) in a tertiary care center, we conducted a retrospective chart review of all hospitalized children diagnosed with PD between August 2003 and August 2018 at the CHU Sainte-Justine (Montreal, Canada).

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  • RNA polymerase III-related or 4H leukodystrophy (POLR3-HLD) is a genetic disorder leading to neurological issues, dental problems, and hormonal deficiencies, caused by mutations in specific genes.
  • A study evaluated the craniofacial features of 31 POLR3-HLD patients, revealing common abnormalities like a flat midface, smooth philtrum, and pointed chin, with different features linked to specific gene mutations.
  • The findings highlight that craniofacial abnormalities are prevalent in POLR3-HLD, offering detailed insights into the dysmorphic traits associated with the various genetic variants involved.
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Vaccines are the primary intervention against influenza. Currently licensed inactivated vaccines focus immunity on viral hemagglutinin (HA). Self-amplifying mRNA (sa-mRNA) vaccines offer an opportunity to generate immunity to multiple viral proteins, including additional neuraminidase (NA).

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Introduction: Hepatitis C virus (HCV) may recur after liver transplantation (LT) in the severe form of fibrosing cholestatic hepatitis (FCH). The prognosis dramatically improved by the use of direct acting antivirals (DAAs). The aim of the present study was to describe the change in histological features of FCH after virological eradication.

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To evaluate clinicians' and patients' perceptions of pharmacogenetic testing in a clinical setting. This is a pragmatic mixed-method prospective observational study. Hospital pharmacists and neurologists participated in focus groups regarding pharmacogenetic testing; patients who received pharmacogenetic testing and their community pharmacists completed surveys to assess their perception of these tests.

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The central nervous system (CNS) has emerged as a critical HIV reservoir. Thus, interventions aimed at controlling and eliminating HIV must include CNS-targeted strategies. Given the inaccessibility of the brain, efforts have focused on cerebrospinal fluid (CSF), aimed at defining biomarkers of HIV-disease in the CNS, including HIV-specific antibodies.

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Objective: To report an adolescent with infantile-onset carnitine palmitoyltransferase 2 (CPT2) deficiency and cerebral malformations and to review the occurrence of brain malformations in CPT2 deficiency. The patient presented clinically at age 5 months with dehydration and hepatomegaly. He also has an unrelated condition, X-linked nephrogenic diabetes insipidus.

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CACNA1A deletions cause epilepsy, ataxia, and a range of neurocognitive deficits, including inattention, impulsivity, intellectual deficiency and autism. To investigate the underlying mechanisms, we generated mice carrying a targeted Cacna1a deletion restricted to parvalbumin-expressing (PV) neurons (PV;Cacna1a) or to cortical pyramidal cells (PC) (Emx1;Cacna1a). GABA release from PV-expressing GABAergic interneurons (PV-INs) is reduced in PV;Cacna1a mutants, resulting in impulsivity, cognitive rigidity and inattention.

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HIV monoclonal antibodies for viral reservoir eradication strategies will likely need to recognize reactivated infected cells and potently drive Fc-mediated innate effector cell activity. We systematically characterize a library of 185 HIV-envelope-specific antibodies derived from 15 spontaneous HIV controllers (HCs) that selectively exhibit robust serum Fc functionality and compared them to broadly neutralizing antibodies (bNAbs) in clinical development. Within the 10 antibodies with the broadest cell-recognition capability, seven originated from HCs and three were bNAbs.

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A minor subset of individuals infected with HIV-1 develop antibody neutralization breadth during the natural course of the infection, often linked to chronic, high-level viremia. Despite significant efforts, vaccination strategies have been unable to induce similar neutralization breadth and the mechanisms underlying neutralizing antibody induction remain largely elusive. Broadly neutralizing antibody responses can also be found in individuals who control HIV to low and even undetectable plasma levels in the absence of antiretroviral therapy, suggesting that high antigen exposure is not a strict requirement for neutralization breadth.

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Plasma viremia reoccurs in most HIV-infected individuals once antiretroviral therapy (ART) is interrupted. The kinetics of viral rebound, specifically the time until plasma virus becomes detectable, differ quite substantially between individuals, and associations with virological and immunological factors have been suggested. Standard clinical measures, like CD4 T-cell counts and plasma HIV RNA levels, however, are poor predictive markers.

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