Publications by authors named "Vanessa M Hill"

Targeting tumor-specific molecular alterations has shown significant clinical benefit. Molecular tumor boards (MTBs) connect cancer patients with personalized treatments and clinical trials. However, rural cancer centers often have limited access to MTB expertise.

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Background: Bedtime procrastination, the volitional delay of going to bed without any external circumstances causing the delay, is linked to multiple indicators of inadequate sleep. Intervening to reduce bedtime procrastination may be an important avenue to improve sleep outcomes, yet the phenomenon remains poorly understood in populations at risk for bedtime procrastination. New career starters, those who have graduated from tertiary education and started a new full-time job within the past 12 months, may be susceptible to problematic bedtime procrastination and are at an opportune time for a 'fresh start' to change behaviour.

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Bedtime procrastination is defined as the volitional delay of going to bed, without any external circumstances causing the delay, and is associated with inadequate sleep. Alleviating bedtime procrastination is an important target for interventions promoting adequate sleep, yet the correlates of bedtime procrastination are poorly understood. This study examined (1) correlates of bedtime procrastination, and (2) strength and direction of the association between bedtime procrastination and sleep outcomes.

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A key feature of circadian rhythms is the sleep/wake cycle. Sleep causes reduced responsiveness to the environment, which puts animals in a particularly vulnerable state; yet sleep has been conserved throughout evolution, indicating that it fulfils a vital purpose. A core function of sleep across species has not been identified, but substantial advances in sleep research have been made in recent years using the genetically tractable model organism, Drosophila melanogaster.

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Although sleep appears to be broadly conserved in animals, the physiological functions of sleep remain unclear. In this study, we sought to identify a physiological defect common to a diverse group of short-sleeping Drosophila mutants, which might provide insight into the function and regulation of sleep. We found that these short-sleeping mutants share a common phenotype of sensitivity to acute oxidative stress, exhibiting shorter survival times than controls.

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Article Synopsis
  • Fragile X syndrome is the leading known genetic cause of autism and is linked to the loss of the FMR1 protein, which is crucial for RNA binding.
  • Research indicates that individuals with Fragile X syndrome have immune system defects, showing increased susceptibility to infections and reduced ability to clear bacteria by immune cells.
  • The study reveals that FMR1 is important for the functioning of immune cells in both body and brain, impacting processes like neuronal clearance after injury and brain development essential for learning and memory.
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Most metazoans undergo dynamic, circadian-regulated changes in behavior and physiology. Currently, it is unknown how circadian-regulated behavior impacts immunity against infection. Two broad categories of defense against bacterial infection are resistance, control of microbial growth, and tolerance, control of the pathogenic effects of infection.

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  • A study was conducted on four family members across three generations to explore X-linked infantile periodic alternating nystagmus (XIPAN).
  • The clinical evaluations revealed that affected males exhibited nystagmus, strabismus, and significant refractive errors, while the female had only myopic astigmatism and a "silent" form of nystagmus.
  • Electrophysiological tests showed abnormalities in eye movements for all family members, supporting the diagnosis of periodic alternating nystagmus without other congenital visual issues.
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Purpose: We report a new method of measuring visual function in patients with INS by demonstrating the effects of eccentric gaze and forced time restriction on optotype recognition.

Design: Cross-sectional, comparative case-series.

Methods: No-time-restricted acuity (NTRA) and time-restricted acuity (TRA) for 19 patients and 18 controls were measured at multiple horizontal gaze angles.

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Purpose: The purpose of this report is to characterize the clinical and electrophysiological effects of extraocular muscle surgery in 15 patients with oculo-cutaneous albinism (OCA) and infantile nystagmus syndrome (INS). Our hypothesis is that surgery on the extraocular muscles of patients with OCA and INS changes their nystagmus and their visual function.

Design: Interventional, prospective, cohort, noncomparative case series.

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