Publications by authors named "E J Wild"
Shifting care from the resource-intensive inpatient setting to the more economically efficient outpatient sector is being promoted internationally by policymakers. Financial incentives are a major focus of such efforts because low levels of hospital outpatient care are attributed to differences in payment for inpatient and outpatient services. In Germany, however, there is significant variation in the extent to which hospitals provide outpatient care despite a uniform payment system.
View Article and Find Full Text PDFBackground: Genetic testing for Huntington's disease (HD) was initially usually positive but more recently the negative rate has increased: patients with negative HD tests are described as having HD phenocopy syndromes (HDPC). This study examines their clinical characteristics and investigates the genetic causes of HDPC.
Methods: Clinical data from neurogenetics clinics and HDPC gene-panel data were analysed.
Article Synopsis
- Therapeutic strategies to lower mutant huntingtin (mHTT) levels show promise in reversing Huntington's disease (HD) symptoms in animal models, highlighting the need for effective biomarkers to evaluate these therapies.
- Neurofilament light chain (NfL) is a neurodegeneration biomarker that increases in the cerebrospinal fluid (CSF) and blood as HD progresses, but its role in assessing treatment efficacy remains unclear.
- In studies with YAC128 mice, NfL levels were elevated compared to control mice, and while lowering mHTT before disease symptoms had minimal impact on plasma NfL, it led to a significant reduction in CSF NfL, especially when treatment was started after disease onset.
Poly ADP-ribose signaling is dysregulated in Huntington disease.
Proc Natl Acad Sci U S A
October 2024
Article Synopsis
- Research indicates that DNA repair and mitochondrial health pathways are linked to HD, with study findings showing elevated DNA damage even before the disease manifests.
- Findings reveal that mutation carriers have lower levels of poly ADP-ribose (PAR) in their cerebrospinal fluid, and while wild-type HTT boosts PARP1 activity, the mutant form does not, highlighting potential pathways for developing early preventive treatments for HD.
Aim: The purpose of this secondary analysis was to describe issues related to internet connections during a virtual randomized clinical trial (v-RCT) that included family caregiver participants living in rural areas.
Background: Success of v-RCTs depends on reliable, high-quality internet access, which can be problematic in rural areas.
Methods: Interventionists documented connectivity issues and corrections made to address connectivity in a narrative note after each virtual visit with family caregivers enrolled in a v-RCT.