Publications by authors named "Nathalie Perreton"

Rationale: Central neuropathic pain resulting from spinal cord injury is notoriously debilitating and difficult to treat with few currently available treatments. A novel molecule with intrathecal administration: Ziconotide has been approved for treatment of refractory neuropathic pain in general. It acts as a presynaptic calcium channel blocker.

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Background And Objectives: Creatine transporter deficiency (CTD) is a rare X-linked genetic disorder characterized by intellectual disability (ID). We evaluated the clinical characteristics and trajectory of patients with CTD and the impact of the disease on caregivers to identify relevant endpoints for future therapeutic trials.

Methods: As part of a French National Research Program, patients with CTD were included based on (1) a pathogenic variant and (2) ID and/or autism spectrum disorder.

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Introduction: Few studies have investigated the management of COVID-19 cases from the operational perspective of the emergency department (ED), We sought to compare the management and outcome of COVID-19 positive and negative patients who presented to French EDs.

Methods: We conducted a prospective, multicenter, observational study in four EDs. Included in the study were adult patients (≥18 years) between March 6-May 10, 2020, were hospitalized, and whose presenting symptoms were evocative of COVID-19.

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Background: The incidence of early seizures (occurring within 7 days of stroke onset) after intracerebral haemorrhage reaches 30% when subclinical seizures are diagnosed by continuous EEG. Early seizures might be associated with haematoma expansion and worse neurological outcomes. Current guidelines do not recommend prophylactic antiseizure treatment in this setting.

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Background: Timely recognition and management of transient ischemic attack (TIA) offer the greatest opportunity to prevent subsequent stroke. But variability of TIA management quality exists across hospitals. Under the impetus of national plans, measures were adopted to improve TIA management, including a structured local pathway.

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Background: Public awareness of stroke symptoms is a key factor to ensure access to reperfusion strategies in due time. We designed and launched a regional theory-informed and user-centered information campaign and assessed its impact on emergency medical services (EMS) calls for stroke suspicion, time-to-call, and public attitudes and awareness concerning stroke.

Methods: A controlled before-and-after study was conducted during 3 sequential time-periods in 2 separate counties.

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The aim of the study was to redefine the phenotype of Allan-Herndon-Dudley syndrome (AHDS), which is caused by mutations in the SLC16A2 gene that encodes the brain transporter of thyroid hormones. Clinical phenotypes, brain imaging, thyroid hormone profiles, and genetic data were compared to the existing literature. Twenty-four males aged 11 months to 29 years had a mutation in SLC16A2, including 12 novel mutations and five previously described mutations.

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Article Synopsis
  • * Patients commonly exhibited distinct facial characteristics that changed with age, such as midface hypoplasia and prominent ears, along with associated physical issues like hypotonia and spasticity, impacting their ability to walk.
  • * Medical complications in these patients included frequent epilepsy, recurrent lung infections, and significant concerns like pulmonary hypertension leading to early mortality, highlighting the need for early screening.
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Article Synopsis
  • Xq28 duplications that involve the MECP2 gene are linked to severe neurodevelopmental disorders in males, characterized by hypotonia, spasticity, and learning disabilities.
  • A study analyzed MRI scans from 30 patients with varying sizes of Xq28 duplications, finding that 93% exhibited brain abnormalities like corpus callosum issues and reduced white matter volume.
  • The research concluded that while these patients share common brain abnormalities, there is no specific correlation between these imaging features and the genetic variations present in the affected patients.
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