Publications by authors named "S D Bellows"
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.
Article Synopsis
- Cervical dystonia (CD) is a common neurological condition, with about one-third of patients also experiencing tremors in their head and hands, complicating diagnosis and treatment.
- Researchers analyzed data from over 3,100 CD patients across various continents using machine learning to identify clinical features predicting the presence and nature of neck tremor.
- Key findings revealed that increased severity of CD, longer disease duration, and older age were strong predictors of neck tremor, with notable differences in tremor characteristics based on gender and the involvement of other body parts.
Article Synopsis
- A large-scale genome-wide association study (GWAS) was conducted with over 6000 participants to investigate genetic risk factors for isolated dystonia, aiming to improve upon earlier studies that found no significant genetic links.
- The study included 4303 dystonia patients and 2362 healthy controls, analyzing various factors like age of onset and affected body areas, but ultimately failed to identify any common genetic variants associated with dystonia.
- The findings suggest that isolated dystonia may not be influenced by common genetic variations, highlighting the need for more extensive studies like whole-genome sequencing to uncover potential genetic contributions.
The auxin signaling molecule controls a variety of growth and developmental processes in land plants. Auxin regulates gene expression through a nuclear auxin signaling pathway (NAP) consisting of the ubiquitin ligase auxin receptor TIR1/AFB, its Aux/IAA degradation substrate, and DNA-binding ARF transcription factors. Although extensive qualitative understanding of the pathway and its interactions has been obtained, mostly by studying the flowering plant Arabidopsis thaliana, it remains unknown how these translate to quantitative system behavior in vivo, a problem that is confounded by the large NAP gene families in most species.
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- * The study involved a randomized controlled trial with 245 participants, comparing the intervention group (123 kids) to a usual treatment group (122 kids), assessing costs and quality-adjusted life-years (QALYs) over 6 months.
- * Results showed that while the intervention had higher costs (mean difference of A$745 and A$1310 from two perspectives), it also led to better sleep outcomes (mean QALY difference of 0.038), indicating a 93.8% chance of being cost-effective