Exploring the Content Validity of the Unified Wilson Disease Rating Scale: Insights from Qualitative Research.

Introduction: Wilson disease (WD) is a rare metabolic disorder of impaired copper transport manifesting in hepatic, neurological, and psychiatric symptoms. To evaluate the clinical symptoms of WD in clinical trials, a group of clinicians created the Unified Wilson Disease Rating Scale (UWDRS). Content validity of this scale has not been established.

The patient experience of Wilson disease: a conceptual model based on qualitative research.

Background: Wilson disease (WD) is a rare disease wherein copper accumulates in tissues, leading to hepatic degeneration, neurological impairments, and psychiatric symptoms. This study aimed to characterize the patient experience of WD and develop a conceptual model containing key symptoms and impacts of the disease.

Results: A targeted literature review was conducted to develop a preliminary conceptual model of WD that was subsequently refined through one-on-one interviews with 3 WD clinicians and finalized following concept elicitation interviews with 11 patients and 1 caregiver.

Influence of titration of antiseizure medications on treatment selection: Results of an online survey with clinicians in the United States.

Introduction: Most antiseizure medications (ASM) need to be titrated before the optimal dose is achieved. Titration can last several weeks to months. We assessed the impact titration schedules have on ASM treatment-related decisions in the United States (US).

Identification of multiple transcripts for antioxidant protein 2 (Aop2): differential regulation by oxidative stress and growth factors.

Antioxidant protein 2 is a unique member of the thiol-specific antioxidant family of proteins known to reduce reactive oxygen species in the presence of thiol-containing electron donors. It is also a candidate atherosclerosis susceptibility gene in mice. In the present study, we sought to characterize the transcripts of this gene, and determine which, if any, are regulated by conditions associated with oxidative stress.