Publications by authors named "Benjamin Durand"

Background: Bacterial infection is major contributor in the delay of wound healing and persistence of non-healing wounds. Bacteria, functioning within complex multicellular communities, facilitate the survival of certain microorganisms in diverse environments. Helcococcus kunzii, a Gram-positive anaerobic commensal coccus, and Staphylococcus aureus, the primary pathogen in chronic wounds, have strong interaction potential, in which H.

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Background: Staphylococcus aureus is the predominant pathogen isolated in diabetic foot infections. Recently, the skin commensal bacterium, Helcococcus kunzii, was found to modulate the virulence of this pathogen in an in vivo model. This study aims to elucidate the molecular mechanisms underlying the interaction between these two bacterial species, using a proteomic approach.

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Article Synopsis
  • The study analyzes data from two groups of individuals with DDX3X variations, one from physicians (48 individuals) and the other from caregivers (44 individuals).
  • The results reveal shared symptoms between the two groups, including previously unreported early childhood issues like feeding difficulties and delayed developmental milestones.
  • The discussion emphasizes that both datasets complement each other, highlighting the importance of addressing symptoms such as ADHD, anxiety, and sleep disturbances in affected individuals.
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  • DYRK1A Syndrome is caused by mutations in the DYRK1A gene, leading to global developmental delays, intellectual disability, and common physical issues like low birth weight and microcephaly.
  • The study compiled growth data from 92 individuals with the syndrome, utilizing various sources including pediatric records and scientific literature.
  • New growth charts were created for key measurements (height, weight, BMI, occipitofrontal circumference) for children aged 0-5 years, providing a useful tool for managing patients with DYRK1A Syndrome.
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Purpose: Helcococcus kunzii is a skin commensal, Gram-positive bacterium, mostly isolated from infected chronic wounds. This opportunistic pathogen is usually co-isolated with Staphylococcus aureus. The present dataset explores the production and secretion of H.

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Intellectual disability with or without manifestations of autism and/or epilepsy affects 1-2% of the population, and it is estimated that more than 30-50% of these cases have a single genetic cause. More than 1000 genes and recurrent chromosomal abnormalities are involved in these genetic forms of neurodevelopmental disorders, which often remain insufficiently described in terms of clinical spectrum, associated medical problems, etc., due to their rarity and the often-limited number of patients' phenotypes reported.

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Chronic wounds, defined by their resistance to care after four weeks, are a major concern, affecting millions of patients every year. They can be divided into three types of lesions: diabetic foot ulcers (DFU), pressure ulcers (PU), and venous/arterial ulcers. Once established, the classical treatment for chronic wounds includes tissue debridement at regular intervals to decrease biofilm mass constituted by microorganisms physiologically colonizing the wound.

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DYRK1A and Wiedemann-Steiner syndromes (WSS) are two genetic conditions associated with neurodevelopmental disorders (NDDs). Although their clinical phenotype has been described, their behavioral phenotype has not systematically been studied using standardized assessment tools. To characterize the latter, we conducted a retrospective study, collecting data on developmental history, autism spectrum disorder (ASD), adaptive functioning, behavioral assessments, and sensory processing of individuals with these syndromes (n = 14;21).

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Helcococcus kunzii is a commensal Gram-positive bacterial species recovered from the human skin microbiota and considered as an opportunistic pathogen. Although little is known about its clinical significance, its increased abundance has been reported in infected wounds, particularly in foot ulcers in persons with diabetes. This species is usually detected in mixed cultures from human specimens and frequently isolated with Staphylococcus aureus.

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Article Synopsis
  • This study investigates the role of high-impact genetic variants in over a thousand genes linked to Mendelian neurodevelopmental disorders (NDD) by characterizing 28 probands with de novo heterozygous coding variants.
  • Among the identified variants, 15 unique changes were found, including missense, in-frame deletions, and a splice variant, affecting the Argonaute 1 protein involved in gene-silencing pathways, which suggests these mutations may disrupt mRNA processing.
  • The affected individuals exhibited a range of symptoms, such as intellectual disabilities, speech and motor delays, and autistic behaviors, highlighting the potential significance of these genetic variants in understanding NDD.
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  • DYRK1A syndrome is a common genetic cause of intellectual disability, and researchers aimed to better understand it and improve how to interpret challenging gene variants.
  • They analyzed clinical and molecular data from 50 individuals with DYRK1A variants and developed several useful tools, including a clinical score and methods to study the impact of these variants.
  • The study found that some variants thought to be harmful may not be, highlighting the need for caution in interpreting DYRK1A mutations, while the new tools will help in future assessments.
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Clostridioides difficile infections are associated with gut microbiome dysbiosis and are the leading cause of hospital-acquired diarrhoea. The infectious process is strongly influenced by the microbiota and successful infection relies on the absence of specific microbiota-produced metabolites. Deoxycholate and short-chain fatty acids are microbiota-produced metabolites that limit the growth of C.

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De novo pathogenic variants in the GATAD2B gene have been associated with a syndromic neurodevelopmental disorder (GAND) characterized by severe intellectual disability (ID), impaired speech, childhood hypotonia, and dysmorphic features. Since its first description in 2013, nine patients have been reported in case reports and a series of 50 patients was recently published, which is consistent with the relative frequency of GATAD2B pathogenic variants in public databases. We report the detailed phenotype of 19 patients from various ethnic backgrounds with confirmed pathogenic GATAD2B variants including intragenic deletions.

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Frank-ter Haar syndrome (FTHS) is a rare autosomal recessive syndrome resulting from mutations in the SH3PXD2B gene involved in the formation of podosomes and invadopodia which have a role in extracellular matrix remodelling and cell migration. FTHS is characterized by facial dysmorphism, megalocornea, inconstant glaucoma, variable developmental delay, skeletal and cardiac anomalies. To date, 40 patients have been reported in the literature with a clinical diagnosis of FTHS, only 20 patients having identified mutations.

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