Results 51 to 60 of about 397,632 (265)
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Patient Experience Journal, 2014 In 2010, UCLPartners, a partnership of health care providers and universities in North Central London, began a collaboration with local commissioners that aimed to think about cancer care and diagnosis differently.
Fiona McKenzie +3 more
doaj
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng +4 more
wiley +1 more source
New Genetics and Society, 2017 This study examines direct-to-consumer genetic testing (DTCGT) in the UK using the Social Construction of Technology framework to draw conclusions about how commercial genotyping is being shaped by principal groups involved with the technology. Different
Teresa Finlay
doaj +1 more source
Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro +6 more
wiley +1 more source
The Multiple Sclerosis Severity Allele rs10191329A and Cognitive Function: A UK Biobank Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The genome‐wide association study of Multiple Sclerosis severity linked the genetic variant rs10191329A to long‐term disability and implicated brain resilience as a determinant of outcome. We hypothesised that rs10191329A might influence cognition in other neurological diseases and healthy controls.
Ioanna Zimianiti +5 more
wiley +1 more source
Associations of Sleep and Shift Work With Osteoarthritis Risk
Arthritis Care &Research, EarlyView.Objective Daily rhythms may be critical for maintaining homeostasis of joint tissues. We aimed to investigate the relationships among circadian clock disruption, sleep, and osteoarthritis (OA) risk in humans. Methods In the UK Biobank, a prospective 500,000–person cohort, we evaluated associations among sleep duration, sleeplessness/insomnia, and shift
Elizabeth L. Yanik +5 more
wiley +1 more source
Health Technology Assessment, 2018 Background: Periodontal disease is preventable but remains the most common oral disease worldwide, with major health and economic implications. Stakeholders lack reliable evidence of the relative clinical effectiveness and cost-effectiveness of different
Craig R Ramsay +24 more
doaj +1 more source
Arthritis Care &Research, EarlyView.Objective Somatic items used in depression assessments can potentially overlap with symptoms related to physical illness, including systemic sclerosis (SSc). No studies have looked at whether somatic depression items may be influenced by diffuse versus limited SSc disease subtypes, which are associated with varying degrees of symptom presentation.
Sophie Hu +110 more
wiley +1 more source
Health Services and Delivery Research, 2015 Background: Over the life of the NHS, hospital services have been subject to continued reconfiguration. Yet it is rare for the reconfiguration of clinical services to be evaluated, leaving a deficit in the evidence to guide local reconfiguration of ...
Candace Imison +4 more
doaj +1 more source