Publications by authors named "C P Kamm"
Background: Neurostatus-Expanded Disability Status Scale (EDSS) is the standard measure used to assess impairment and disability in multiple sclerosis (MS) trials but requires trained expert neurologists.
Objectives: This study aims to evaluate the concordance of Neurostatus-EDSS assessments from specially trained health care professionals (HCPs) and standardized trained neurologists.
Methods: A Swiss multicenter, randomized, cross-over study with 100 people with MS.
Article Synopsis
- Dystonia is a common movement disorder with a complex genetic background, showing significant variability in its clinical presentation and genetics.
- The study involved exome sequencing of nearly 1,924 patients, mainly from two major registries, focusing on those with genetic prescreening negative results and early age at onset.
- Researchers discovered 137 likely pathogenic variants in 51 genes among the patients, with many being novel, highlighting the challenges in diagnosing and understanding the disorder's genetic links.
Base editors create precise genomic edits by directing nucleobase deamination or removal without inducing double-stranded DNA breaks. However, a vast chemical space of other DNA modifications remains to be explored for genome editing. Here, we harness the bacterial anti-phage toxin DarT2 to append ADP-ribosyl moieties to DNA, unlocking distinct editing outcomes in bacteria versus eukaryotes.
View Article and Find Full Text PDFArticle Synopsis
- Understanding the impact of Multiple Sclerosis (MS) on health-related quality of life (HRQoL) is crucial, as it tends to decline with age and longer disease duration.
- The study analyzed data from the Swiss MS Registry to explore relationships between various MS disease characteristics, symptom burdens, and low HRQoL among 1,697 individuals, identifying specific factors that contribute to diminished quality of life.
- Results indicated that low HRQoL is linked to factors such as receiving invalidity insurance, experiencing depression, muscle weakness, memory issues, pain, and severe gait impairment, highlighting the need for targeted symptom management strategies.
Introduction: Understanding the prevalence of multiple sclerosis (MS) provides information for healthcare planning and helps identify trends and patterns of disease occurrence. For Switzerland, the number of persons with MS (pwMS) was last estimated at approximately 15,000 in 2016. The study's objectives were to update estimates of MS prevalence and characterise the change in MS prevalence in Switzerland between 2016 and 2021, the last year with complete administrative data.
View Article and Find Full Text PDF