Publications by authors named "Ashton C"

Purpose: To describe and report the outcomes of allogeneic eccentric superficial anterior lamellar keratoplasty (SALK), a novel surgical technique, in the management of total bilateral limbal stem cell deficiency (LSCD).

Methods: Data were collected retrospectively on all patients with total bilateral LSCD who underwent SALK. Previous surgery, preexisting glaucoma, conjunctivalization, vascularization, lens status, and preoperative best-corrected visual acuity (BCVA) were collected from medical notes.

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Introduction: Stroke is a leading cause of mortality and morbidity, demanding prompt and accurate identification. However, prehospital diagnosis is challenging, with up to 50% of suspected strokes having other diagnoses. A prehospital video triage (PHVT) system was piloted in Greater Manchester to improve prehospital diagnostic accuracy and appropriate conveyance decisions.

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Considerable proportions of college students in White, educated, industrialized, rich, and democratic countries, such as the United States, suffer from eating disorders and other problematic eating behaviors. The prevalence of eating disorders in Western Asia has been historically low but is rapidly increasing. One of the most dramatic increases is occurring in the United Arab Emirates.

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The COVID-19 pandemic led to significant challenges for healthcare providers working with pregnant and parenting youth. However, the impacts of the pandemic on this population and healthcare services from the perspective of healthcare providers are not well documented in Canada. We examined the narratives and experiences of healthcare providers regarding these impacts and explored the challenges to service provision.

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Rubisco is the key enzyme in photosynthesis, catalyzing fixation of carbon dioxide from the atmosphere into energy storage molecules. Several inefficiencies in Rubisco limit the rate of photosynthesis, and, therefore, the growth of the plant. Rubisco is sensitive to light, making deactivation of the enzyme upon sampling likely.

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Background: Pregnant and parenting youth in Canada face multiple challenges in fulfilling their parenting responsibilities while meeting their own unique needs. The COVID-19 pandemic and its associated public health restrictions exacerbated their challenges by reducing access to support networks, limiting opportunities to promote growth and well-being, and destabilizing their financial and economic standing. The impacts of the pandemic on the mental, physical, and emotional health of individuals are well-documented in the literature.

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Article Synopsis
  • Spinocerebellar ataxia 27B (SCA27B) is a disease that affects balance and coordination, caused by a genetic change in a specific part of a gene called FGF14.
  • Research shows that most brain damage from this disease happens mainly in the cerebellum, which controls movement.
  • In a study of blood samples and brain tissue, scientists found that the genetic change was mostly stable over time, but it exhibited more growth in the cerebellum than in other brain areas, helping to explain why SCA27B mainly affects that part of the brain.
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Background: Neonatal resuscitation airway training can be difficult as there is no feedback on the face mask technique. "JUNO" is a training respiratory function monitor that provides feedback on mask leak, ventilatory rate, and tidal volume.

Objective: To evaluate whether the use of the JUNO improves face mask ventilation techniques in manikin models.

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  • Spinocerebellar ataxia 27B (SCA27B) is an autosomal dominant disorder characterized by GAA•TTC repeat expansions that mainly cause neuronal loss in the cerebellum.
  • A study analyzing blood samples, skin cells, and brain tissues found that the repeat expansions are stable in most peripheral tissues, but significantly more unstable in specific regions of the cerebellum.
  • The cerebellar-specific expansion bias observed could help explain the disease's focused and late-onset impact on cerebellar function in affected individuals.
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  • The study investigates the factors affecting the expansion of tandem repeats, focusing on the FGF14 (GAA)·(TTC) repeat locus in a large sample of 2,530 individuals through advanced sequencing techniques.
  • Researchers discovered a prevalent 5'-flanking variant present in over 70% of alleles, which is linked to nonpathogenic alleles and the ancestral lineage of this genetic marker.
  • This common variant is associated with greater stability of the tandem repeat during inheritance and improved accessibility of chromatin, suggesting a role in preventing pathological expansion.
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Background: Intravenous (IV) antibiotic use in secondary care in England is widespread. Timely appropriate intravenous to oral switch (IVOS) has the potential to deliver significant clinical and operational benefits. To date, antimicrobial stewardship (AMS) efforts around IVOS have not focused on the nursing staff who administer antibiotics, which represents a significant gap in AMS programmes.

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Individuals with autism spectrum disorder (ASD) often exhibit motor deficits that increase their risk of falls. There is a lack of understanding regarding gait biomechanics demonstrated by older children with ASD. The purpose of the study was to determine differences in gait patterns between older children with ASD and typically developing children.

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While biallelic POLR3A loss-of-function variants are traditionally linked to hypomyelinating leukodystrophy, patients with a specific splice variant c.1909+22G>A manifest as adolescent-onset spastic ataxia without overt leukodystrophy. In this study, we reported eight new cases, POLR3A-related disorder with c.

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Background: GAA-FGF14 disease/spinocerebellar ataxia 27B is a recently described neurodegenerative disease caused by (GAA) expansions in the fibroblast growth factor 14 (FGF14) gene, but its phenotypic spectrum, pathogenic threshold, and evidence-based treatability remain to be established. We report on the frequency of FGF14 (GAA) and (GAA) expansions in a large cohort of patients with idiopathic downbeat nystagmus (DBN) and their response to 4-aminopyridine.

Methods: Retrospective cohort study of 170 patients with idiopathic DBN, comprising in-depth phenotyping and assessment of 4-aminopyridine treatment response, including re-analysis of placebo-controlled video-oculography treatment response data from a previous randomised double-blind 4-aminopyridine trial.

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Background: GAA- ataxia (SCA27B) is a recently reported late-onset ataxia caused by a GAA repeat expansion in intron 1 of the gene. Initial studies revealed cerebellar atrophy in 74-97% of patients. A more detailed brain imaging characterization of GAA- ataxia is now needed to provide supportive diagnostic features and earlier disease recognition.

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Article Synopsis
  • - A study involving 34 patients from Canada, France, Austria, and Australia focused on spinocerebellar ataxia 27B, highlighting the shared symptom of episodic ataxia among these individuals.
  • - The report details various episodic features experienced by the patients, indicating that the condition is not just limited to ataxia but includes other episodic symptoms as well.
  • - It was found that acetazolamide, a medication often used for ataxia, proved ineffective in treating these patients, suggesting a need for alternative therapies.
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  • About 30% of people with downbeat nystagmus (DBN) don't know why they have it, and researchers think that a genetic issue called GAA repeat expansions might be a common cause for this.
  • In a study with 170 patients, they found that 48% had these GAA repeat expansions and that patients with this genetic change had more eye and movement issues related to the brain's balance control.
  • The patients with GAA repeat expansions responded better to a treatment called 4-aminopyridine (4-AP) compared to those without, showing that this genetic cause can help doctors decide how to treat DBN.
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  • Researchers studied the SCA27B (GAA)•(TTC) repeat locus in over 2,500 individuals to understand factors leading to the expansion of tandem repeats.
  • They found a common 17-bp deletion-insertion variation that was present in about 70% of the alleles analyzed.
  • This variation was mostly found on alleles with fewer than 30 GAA repeats and contributed to increased stability during meiosis.
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Distraction disrupts Working Memory (WM) performance, but how the brain filters distraction is not known. One possibility is that neural activity associated with distractions is suppressed relative to a baseline/passive task (biased competition). Alternatively, distraction may be denied access to WM, with no suppression.

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Objectives: To report a novel likely pathogenic variant in the gene associated with early adult-onset parkinsonism and progressive dystonia.

Methods: Clinical, biochemical, and imaging assessments were performed on 2 affected adult brothers with a genetically unsolved progressive neurologic disorder followed by whole-genome sequencing.

Results: A homozygous likely pathogenic variant in the gene (c.

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Purpose: The purpose of this study was to evaluate the effectiveness of insulin eye drops for treating refractory persistent epithelial defects (PEDs).

Methods: A prospective, single-center, case series was performed from March 2020 to September 2021. All patients were prescribed insulin eye drops for refractory PEDs that failed on maximum standard medical treatment (including serum eye drops).

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Article Synopsis
  • Researchers identified a pathogenic GAA repeat expansion in the first intron of the gene that encodes fibroblast growth factor 14, linked to late-onset cerebellar ataxia (LOCA) in six French Canadian patients.
  • The expansion was significantly associated with LOCA in both French Canadian and German populations, indicating a strong genetic link with high odds ratios.
  • Analysis revealed that the expansion occurred in various percentages of patients from different backgrounds, and affected individuals showed reduced RNA and protein expression related to the condition.
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