Publications by authors named "Isabelle Boothman"

Background: The underlying mechanisms of atherosclerosis and strategies for identifying high cardiovascular risk in psoriasis are incompletely understood. Platelet activity is increased in psoriasis and induces vascular dysfunction. We investigated the platelet phenotype and platelet transcriptome as one potential mechanism to explain cardiovascular risk in psoriasis.

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Article Synopsis
  • - SJS/TEN is a severe, drug-induced skin condition with a high mortality rate of 15-20% and requires multidisciplinary expertise for effective treatment; it's rare, with an incidence of 1-5 cases per million annually in the U.S., but more common globally.
  • - The SJS/TEN 2021 research meeting, held virtually, aimed to build an international research network involving 428 scientists and 140 survivors and family members to enhance collaboration between science and the community.
  • - The workshop covered vital themes such as mental health, pediatric cases, long-term complications, skin care for diverse populations, and the impact of COVID-19 vaccines, identifying key areas for future research and clinical focus.
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Background: The anti-seizure medication vigabatrin (VGB) is effective for controlling seizures, especially infantile spasms. However, use is limited by VGB-associated visual field loss (VAVFL). The mechanisms by which VGB causes VAVFL remains unknown.

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Background: The developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies which co-present with developmental delay and intellectual disability (ID). DEEs usually occur in people without a family history of epilepsy and have emerged as primarily monogenic, with damaging rare mutations found in 50% of patients. Little is known about the genetic architecture of patients with DEEs in whom no pathogenic variant is identified.

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