Publications by authors named "S S O’Sullivan"
We describe the phenotypic and genotypic spectrum of patients with vascular anomaly (VA) in a paediatric multi-disciplinary VA clinic. We measured the clinical utility of genotyping by comparing pre and posttest diagnosis and management. A 46-month retrospective analysis occurred for 250 patients offered genetic testing in the VA clinic.
View Article and Find Full Text PDFIn a 2015 study of mutation carriers who had initial negative bone scintigraphy, we found that the rate of development of Paget's disease of bone (PDB) over 5 yr was low. We report here an additional 8-yr follow-up of this cohort, exploring the hypothesis that the rate of development of PDB would increase as the cohort aged. In the current study, 21 of 24 subjects from 2015 who had a negative bone scintiscan at baseline and at first follow-up, had a repeat scintiscan and measurement of total serum alkaline phosphatase activity.
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- Medication adjustments for Parkinson's disease are based on patient feedback and clinicians' assessments of motor symptoms like bradykinesia and tremor.
- This study evaluates how consistently different clinicians assess upper limb motor function in Parkinson's patients during video recordings of standardized hand movements.
- Results show that initial agreement among clinicians was poor, especially for certain movements, but training improved their consistency in ratings significantly.
Article Synopsis
- * In a study with 55 pregnant smokers, vitamin C improved umbilical blood flow compared to a placebo, bringing levels closer to those of nonsmokers.
- * RNA-sequencing results indicated that vitamin C altered gene expression related to vascular and cardiac development, hinting at its potential benefits for baby health in situations of prenatal nicotine exposure.
Article Synopsis
- Severe coronary artery disease (CAD) is linked to serious complications like heart attacks and angina, and this study focuses on understanding the genetic factors associated with severe and multi-vessel CAD.
- Researchers analyzed data from 1,900 patients with severe CAD and 1,056 healthy controls, identifying 14 genetic variants related to severe disease and finding specific associations based on age.
- Notably, the PHACTR1 gene variant increases the risk for younger individuals, while another variant in APOC1/APOE decreases risk for older adults, highlighting how genetic differences can influence CAD severity and potentially inform personalized treatment strategies.