Publications by authors named "Julie Loft Nagel"
Periventricular nodular heterotopia (PVNH) is an X-linked disease caused by loss-of-function variants in the filamin A () gene. FLNA-PVNH is a heterogeneous disorder, and the phenotype is associated with neurological and non-neurological features including cardiovascular, gastrointestinal, pulmonary, haematological, cutaneous and skeletal manifestations. No clear definition of the FLNA-PVNH phenotype has been established, but the patients are predominantly females with seizures, cardiovascular manifestations, and normal intelligence or mild intellectual disability.
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- Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are serious drug reactions that can lead to high mortality rates, and there’s no agreed-upon treatment plan across Europe.
- * A retrospective study involving 212 adults aimed to identify treatment methods, risk factors, and outcomes for patients with SJS/TEN in 13 centers from 2015 to 2019, revealing that most patients had identified culprit drugs, primarily antibiotics and anticonvulsants.
- * The findings showed that 63.7% of patients experienced severe complications, with a 20.8% mortality rate within 6 weeks, and significant body surface area detachment was linked to more severe outcomes.