Publications by authors named "C L Marras"

Background: Sturge-Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. The spectrum of clinical manifestations includes headache, seizures, stroke-like events, intellectual disability, glaucoma, facial asymmetry, gingival hyperplasia, etc.

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Stereo-EEG is not just a diagnostic examination but a complex methodology, requiring an accurate synthesis of many data (anatomical, clinical, neurophysiological, cognitive, metabolic, and genetic). The implantation scheme is decided based on a hypothesis (or hypotheses) of epileptogenic zone localization. Subsequently, intracerebral electrical stimulation is used to define the extent of highly functional cortical regions and to reproduce the clinical symptoms and signs associated with seizures.

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Background: Limited evidence exists regarding the meaningfulness of symptoms experienced in early Parkinson's disease (PD).

Objectives: To identify the most bothersome symptoms experienced by people with early PD, leveraging data from the Parkinson's Disease Patient Report of Problems (PD-PROP) questionnaire within the Fox Insight Study.

Methods: Individuals with a self-reported diagnosis of PD completed the PD-PROP questionnaire, reporting up to five most bothersome symptoms.

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Oculomotor behaviour changes in patients with Parkinson's disease (PD) are a promising source of prodromal disease markers. Capitalizing on this phenomenon to facilitate early diagnosis requires oculomotor assessment in prodromal cohorts. We examined oculomotor behaviour in non-manifesting LRRK2 G2019S mutation carriers (LRRK2-NM), who have heightened PD risk.

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Background: Switching to biosimilars is an effective and safe practice in treating inflammatory diseases; however, a nocebo effect may arise as a result of the way in which the switch is communicated to a given patient.

Objective: We aimed to design a gaming-based digital educational tool (including a discussion algorithm) to support the training of health care professionals in efficiently communicating the switch to biosimilars, minimizing the generation of a nocebo effect and thus serving as an implementation strategy for the recommended switch.

Methods: The tool was developed based on interviews and focus group discussions with key stakeholders, both patients and health care professionals.

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