Publications by authors named "Alexandre Mathieu"

Early-onset restrictive eating disorders (rEO-ED) encompass a heterogeneous group of conditions, including early-onset anorexia nervosa (EO-AN) and avoidant/restrictive food intake disorders (ARFID). However, the impact of rEO-ED on brain morphometry remains largely unknown. Here we performed the largest magnetic resonance imaging-derived brain features comparison of children and early adolescents (<13 years) with EO-AN ( = 124) or ARFID ( = 50) versus typically developing individuals (TD,  = 116).

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  • 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.
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  • 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.
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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.

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  • 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.
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  • 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.
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Background: The impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in patients with chronic liver disease (CLD) and liver transplant (LT) recipients remains a concern. The aim of this study was to report the impact of coronavirus disease 2019 (COVID-19) infection among patients at the tertiary health care centre (CHUM) during the first wave of the SARS-CoV-2 pandemic.

Methods: This real-world, retrospective cohort included all patients admitted to our liver unit and/or seen as an outpatient with CLD with or without cirrhosis and/or LT recipients who tested positive to SARS-CoV-2 infection.

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The increasing use of extracorporeal membrane oxygenation (ECMO) in critical care introduces new challenges with medication dosing. Voriconazole, a commonly used antifungal and the first-choice agent for the treatment of invasive aspergillosis, is a poorly water-soluble and highly protein-bound drug. Significant sequestration in ECMO circuits can be expected; however, no specific dosing recommendations are available.

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  • Hyperserotonemia, a common biochemical anomaly in autism spectrum disorders (ASD), has not been fully understood, prompting this study to explore serotonin sulfation by phenol sulfotransferases (PST) in blood samples from individuals with ASD and their families compared to controls.
  • The study found significantly reduced activity of two PST isoforms in platelets of ASD individuals, linking deficiencies in PST-M to higher serotonin levels and confirming similar deficits in pineal gland tissues, a key source of serotonin.
  • Although genetic analyses of SULT1A genes did not connect variations to PST activity or ASD risk, broader investigations revealed impairments in other sulfation markers, suggesting a generalized issue in sulfation metabolism that may explain hyperser
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Herbal and dietary supplements are frequently used as weight loss supplements. However, they account for 20% of drug-induced liver injury. 's (GC) active compound, hydroxycitric acid, can be found among those supplements.

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Purpose: To present the pharmacological evaluation process in a case of a polymedicated patient presenting with toxic epidermal necrolysis (TEN).

Summary: A 75-year-old Caucasian polymedicated woman had been treated for hip pain with nonsteroidal anti-inflammatory drugs and pregabalin in the months preceding the apparition of an expanding papulo-erythematous rash. She had also started using new medicated eye drops for glaucoma.

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Introduction: Stevens-Johnson syndrome and toxic epidermal necrolysis are severe cutaneous drug eruptions characterized by epidermal detachment. Pembrolizumab is a monoclonal antibody that binds to the programmed death-1 receptor, and it has been associated with numerous cutaneous adverse side-effects, including Stevens-Johnson syndrome.

Case Report: We describe a 63-year-old male with metastatic lung adenocarcinoma who developed a rapidly progressing maculopapular rash three days after a first dose of pembrolizumab.

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  • * Research found an additional repeat expansion site in the MARCH6 gene among European families, alongside previously identified expansions in the SAMD12 gene in Asia.
  • * The study revealed significant variability in the size and structure of these repeat expansions and noted that large expansions can lead to genetic rearrangements in some cells, indicating a high level of instability.
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  • The text refers to a correction made to a previously published article with the DOI 10.1038/s41525-017-0035-2.
  • The correction likely addresses errors or omissions in the original publication.
  • This ensures that readers have access to accurate and updated information related to the research discussed in the article.
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  • A study examined 357 individuals from the Faroe Islands, including 36 with autism, to explore genetic associations with the condition.
  • Findings showed that individuals with autism had a higher burden of rare genetic variants, inbreeding status, and more deleterious homozygous variants compared to non-autistic controls.
  • The research identified new potentially harmful gene variants related to autism and emphasized the need for further understanding of how these genetic factors influence neuronal function.
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Kidney transplant recipients are at risk of pharmacological interactions and adverse drug reactions. Community pharmacists are uniquely poised to detect and intervene in cases of drug-related problems. The aims of this study were to develop and validate a list of explicit criteria to be used by community pharmacists to assess drug-related problems in kidney transplant patients, and to assess their frequency and their determinants.

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Background: Autism and synesthesia are neurodevelopmental conditions associated with variants of perceptual processing. They also share some genetic variants and include a large magnitude of intra-categorical variation: 60 types for synesthesia, as well as a spectrum for autism. In order to investigate the relationship between these two phenomena, we investigated the family of FC, an autistic individual who also possess savant abilities and synesthesia manifestations.

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  • * A study identified a rare homozygous deletion affecting specific genes (ELMOD3, CAPG, and SH2D6) in a boy with ASD, intellectual disability, and hearing impairment.
  • * The findings suggest that the deletion may cause a new syndrome relating to hearing loss and autism/intellectual disability, emphasizing the role of ELMOD3 in hearing impairment and the potential effects of the deletions on brain development.
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Importance;: Copy number variants (CNVs) classified as pathogenic are identified in 10% to 15% of patients referred for neurodevelopmental disorders. However, their effect sizes on cognitive traits measured as a continuum remain mostly unknown because most of them are too rare to be studied individually using association studies.

Objective: To measure and estimate the effect sizes of recurrent and nonrecurrent CNVs on IQ.

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  • Phelan-McDermid syndrome (PMS) is a genetic condition linked to deletions on chromosome 22q13, leading to symptoms like intellectual disability, speech delays, and autism spectrum disorders, with severity varying across individuals.
  • The study involved analyzing 85 patients and found that 28% had abnormalities in the corpus callosum, a brain structure important for communication between hemispheres, and identified genomic regions that may contribute to specific symptoms like lack of speech.
  • Additionally, researchers found significant genetic variations that might influence the severity of PMS and noted that some family members with the deletion could remain unaffected, indicating potential compensatory mechanisms for managing the disorder.
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Jacobsen syndrome (JS) is characterized by intellectual disability and higher risk for autism spectrum disorders (ASD). All patients with JS are carriers of contiguous de novo deletions of 11q24.2-25, but the causative genes remain unknown.

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SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain to be determined.

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In this Letter, a vision-based remote sensing methodology is proposed to measure the topography of weld pool surfaces from one single view. Thermal radiations emitted by the hot liquid metal at a wavelength within the arc plasma blind spectral window are acquired by a wavefront division polarimetric system. The refractive index of the liquid metal and the topography of the weld pool surface are inferred from the polarimetric state of the thermal radiations.

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Objective: To assess the diagnostic efficacy, cost and possible corrective measure of the indications for routine stool cultures in nosocomial diarrhoea in adults.

Methods: A retrospective study over a 10-month period of 660 standard stool cultures, 256 of which were conducted after the 3rd day of hospitalisation, conducted in 528 patients at the hospital centre in Pau.

Results: The positivity rate of the stool cultures was of 26/336 patients (7.

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