Dawn E. Saunders
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Characterisation of paediatric brain tumours by their MRS metabolite profiles Open
1 H‐magnetic resonance spectroscopy (MRS) has the potential to improve the noninvasive diagnostic accuracy for paediatric brain tumours. However, studies analysing large, comprehensive, multicentre datasets are lacking, hindering translati…
View article: Brain volume in Tanzanian children with sickle cell anaemia: A neuroimaging study
Brain volume in Tanzanian children with sickle cell anaemia: A neuroimaging study Open
Summary Brain injury is a common complication of sickle cell anaemia (SCA). White matter (WM) and cortical and subcortical grey matter (GM), structures may have reduced volume in patients with SCA. This study focuses on whether silent cere…
View article: Quantitative susceptibility mapping (QSM) and R2* of silent cerebral infarcts in sickle cell anemia
Quantitative susceptibility mapping (QSM) and R2* of silent cerebral infarcts in sickle cell anemia Open
Silent cerebral infarction (SCI) is the most commonly reported radiological abnormality in patients with sickle cell anemia (SCA) and is associated with future clinical stroke risk. To date, there have been few histological and quantitativ…
Structural connectivity mediates the relationship between blood oxygenation and cognitive function in sickle cell anemia Open
In sickle cell disease, the relative importance of reduced hemoglobin (Hb) and peripheral oxygen saturation on brain structure remains uncertain. We applied graph-theoretical analysis to diffusion magnetic resonance imaging data to investi…
View article: Quantification of Silent Cerebral Infarction on High-Resolution FLAIR and Cognition in Sickle Cell Anemia
Quantification of Silent Cerebral Infarction on High-Resolution FLAIR and Cognition in Sickle Cell Anemia Open
Research in sickle cell anemia (SCA) has used, with limited race-matched control data, binary categorization of patients according to the presence or absence of silent cerebral infarction (SCI). SCI have primarily been identified using low…
View article: Individual Watershed Areas in Sickle Cell Anemia: An Arterial Spin Labeling Study
Individual Watershed Areas in Sickle Cell Anemia: An Arterial Spin Labeling Study Open
Previous studies have pointed to a role for regional cerebral hemodynamic stress in neurological complications in patients with sickle cell anemia (SCA), with watershed regions identified as particularly at risk of ischemic tissue injury. …
View article: Venous cerebral blood flow quantification and cognition in patients with sickle cell anemia
Venous cerebral blood flow quantification and cognition in patients with sickle cell anemia Open
Prior studies have described high venous signal qualitatively using arterial spin labelling (ASL) in patients with sickle cell anemia (SCA), consistent with arteriovenous shunting. We aimed to quantify the effect and explored cross-section…
MRI detection of brain abnormality in sickle cell disease Open
Introduction: Over the past decades, neuroimaging studies have clarified that a significant proportion of patients with sickle cell disease (SCD) have functionally significant brain abnormalities. Clinically, structural magnetic resonance …
Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene Open
We provide a possible mechanism for the arteriopathy associated with heterozygous CBL variants. Identification of the key role for the RAS-MAPK pathway in CBL-mediated cerebral arteriopathy could facilitate identification of novel or repur…
White Matter Integrity in Tanzanian Children With Sickle Cell Anemia Open
Background and Purpose— Widespread reductions in white matter integrity are associated with cognitive dysfunction in sickle cell anemia. Silent cerebral infarction (SCI), vasculopathy (VSC), and low hemoglobin concentration (Hb) are implic…
Vascular Instability and Neurological Morbidity in Sickle Cell Disease: An Integrative Framework Open
It is well-established that patients with sickle cell disease (SCD) are at substantial risk of neurological complications, including overt and silent stroke, microstructural injury, and cognitive difficulties. Yet the underlying mechanisms…
Transcranial Doppler and Magnetic Resonance in Tanzanian Children With Sickle Cell Disease Open
Background and Purpose— We determined prevalences of neurological complications, vascular abnormality, and infarction in Tanzanian children with sickle cell disease. Methods— Children with sickle cell disease were consecutively enrolled fo…
Index of Pain Experience in Sickle Cell Anaemia (<span>IPESCA</span>): development from daily pain diaries and initial findings from use with children and adults with sickle cell anaemia Open
Pain burden assessments are essential to evaluate the effectiveness of interventions in sickle cell anaemia (SCA) treatment trials. Number of days in pain or number of hospital admissions are commonly utilised but these measures overlook a…
Neuroimaging in patients with sickle cell anemia: capacity building in Africa Open
### Sickle cell anemia neurologic complications
The collaboration aims at exploring the relationship between the cerebral vasculature and neurologic complications in Tanzanian children with sickle cell anemia (SCA). Cerebral vasculopathy …
Stroke in childhood neurofibromatosis type 2 Open
This commentary is on the case series by Lascelles et al. on pages 1285–1288 of this issue.
White matter integrity and processing speed in sickle cell anemia Open
Our results extend previous reports of impairment that is independent of presence of infarction and may worsen with age. We identify processing speed as a vulnerable domain, with deficits potentially mediating difficulties across other dom…
Overnight auto-adjusting continuous airway pressure + standard care compared with standard care alone in the prevention of morbidity in sickle cell disease phase II (POMS2b): study protocol for a randomised controlled trial Open
ISRCTN46012373 . Registered on 10 July 2015. Protocol Version: 6.0 Date: 24th December 2015 Sponsor: University Hospital Southampton. Sponsor's protocol code: RHMCHIOT53.
Moyamoya-like cerebrovascular disease in a child with a novel mutation in myosin heavy chain 11 Open
Heterozygous mutations in the MYH11 gene affecting the C-terminal coiled-coil region of the smooth muscle myosin heavy chain, a contractile protein of smooth muscle cells (SMC), have been described to cause thoracic aortic aneurysm or aort…
Nocturnal oxyhemoglobin desaturation and arteriopathy in a pediatric sickle cell disease cohort Open
Low nocturnal SpO2 and reticulocytosis are associated with intracranial arteriopathy in children with SCD. Preventative strategies might reduce stroke risk.
Disrupted nitric oxide signaling due to <i><span>GUCY1A3</span></i> mutations increases risk for moyamoya disease, achalasia and hypertension Open
Moyamoya disease ( MMD ) is a progressive vasculopathy characterized by occlusion of the terminal portion of the internal carotid arteries and its branches, and the formation of compensatory moyamoya collateral vessels. Homozygous mutation…