Abstract Background Cervical dystonia is the most common of the adult-onset focal dystonias. Most cases are idiopathic. The current view is that cervical dystonia may be caused by some combination of genetic and environmental factors. Genetic contributions have been studied extensively, but there are few studies of other factors. Objective To conduct an exploratory metabolomics analysis of cervical dystonia to identify potentially abnormal metabolites or altered biological pathways. Methods Plasma samples from 100 cases with idiopathic cervical dystonia and 100 controls were compared using liquid chromatography coupled with mass spectrometry-based metabolomics. Results A total of 7,346 metabolic features remained after quality control, and 289 demonstrated significant differences between cases and controls, depending on statistical criteria chosen. Pathway analysis revealed 9 biological processes to be significantly associated at p<0.05, 5 pathways were related to carbohydrate metabolism, 3 pathways were related to lipid metabolism. Conclusion This is the first large scale metabolomics study for any type of dystonia. The results may provide potential novel insights into the biology of cervical dystonia.
summary For elite judo athletes and recreational judo athletes alike, sport-specific strength and conditioning is essential in the prevention of injuries and for enhancing performance. This article offers suggestions for judo athletes and coaches for the development of strength and conditioning programs specific to the requirements of their sport.
ABSTRACT Background Assessing disease severity can be performed using either clinician‐rated scales (CRS) or patient‐rated outcome (PRO) tools. These two measures frequently demonstrate poor correlations. Objectives To determine if the correlation between a CRS and PRO for motor features of cervical dystonia (CD) improves by accounting for non‐motor features. Methods Subjects with CD (N = 209) were evaluated using a CRS (Toronto Western Spasmodic Torticollis Rating Scale, TWSTRS) and a PRO (Cervical Dystonia Impact Profile, CDIP‐58). Results Linear regression revealed a weak correlation between the two measures, even when considering only the motor subscales of each. The strength of this relationship improved with a regression model that included non‐motor symptoms of pain, depression, and disability. Conclusions These results argue that the results of motor assessments in a PRO for CD cannot be fully appreciated without simultaneous assessment of non‐motor co‐morbidities. This conclusion might apply to other disorders, especially those with frequent non‐motor co‐morbidities.
Treatment recommendations for rare disorders often are limited by a lack of data from objective clinical trials. As a result, recommendations are often based on expert opinion. Because expert opinions sometimes conflict, many patients turn to the Internet for guidance from others who may have tried a treatment. The increasing numbers of patients and families who post opinions regarding outcomes allow for systematic data collection regarding specific treatments from the patient perspective. We used social media research methods to determine the opinions of family members or other caregivers regarding permanent removal of teeth for treatment of self-injurious biting (SIB) in patients with Lesch-Nyhan disease (LND), a particularly difficult treatment decision where expert opinion is divided. A content analysis of social media postings was used to systematically interpret caregiver posts about tooth extraction from families and other caregivers of patients with LND who posted comments regarding physical or emotional well-being after tooth extraction. A scale was used to rate all posted opinions. Scores ranged from 1 to 5, with 1 being completely negative and 5 being completely positive. 170 comments from 46 unique individuals were collected and scored by two raters. Inter-rater reliability, determined using a correlation coefficient across all postings, was 0.85, suggesting a high degree of reliability. The overall average caregiver sentiment score was 4.86, which is an overwhelmingly positive endorsement of tooth extraction as a means for controlling SIB. These methods provide a simple strategy for recommending treatment strategies based on real-world experience when objective clinical trials are unviable.
summary For elite judo athletes and recreational judo athletes alike, sport-specific strength and conditioning is essential in the prevention of injuries and for enhancing performance. This article offers suggestions for judo athletes and coaches for the development of strength and conditioning programs specific to the requirements of their sport.
