Publications by authors named "Sandilands A"

Background: Atrial fibrillation (AF) represents a growing healthcare challenge, mainly driven by acute hospitalisations. Virtual wards could be the way forward to manage acute AF patients through remote monitoring, especially with the rise in global access to digital telecommunication and the growing acceptance of telemedicine post-COVID-19.

Methods: An AF virtual ward was implemented as a proof-of-concept care model.

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Objectives: Endurance athletes are at an increased risk of atrial fibrillation (AF) when compared with the general population. However, the risk of stroke in athletes with AF is unknown.

Design And Setting: We aimed to assess this risk using an international online survey.

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Introduction: Exposure to air pollution is a recognised risk factor for cardiovascular disease and has been associated with supraventricular arrhythmias. The effect of air pollution on ventricular arrhythmias is less clear. This scoping review assessed the effects of particulate and gaseous air pollutants on the incidence of ventricular arrhythmias.

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Purpose: Sites of highest dominant frequency (HDF) are implicated by many proposed mechanisms underlying persistent atrial fibrillation (persAF). We hypothesized that prospectively identifying and ablating dynamic left atrial HDF sites would favorably impact the electrophysiological substrate of persAF. We aim to assess the feasibility of prospectively identifying HDF sites by global simultaneous left atrial mapping.

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Purpose: Electrocardiograms (ECG) are often poorly interpreted by novices and this can delay time-sensitive, critical intervention. This study aimed to assess, improve and validate a stepwise ECG algorithm designed to assist with ECG interpretation by novices by soliciting the opinions of an international cohort of expert cardiologists.

Methods: The Delphi Method was used, and an online questionnaire was sent to an international panel of cardiologists.

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Epidermolysis bullosa is a group of genetic skin conditions characterized by abnormal skin (and mucosal) fragility caused by pathogenic variants in various genes. The disease severity ranges from early childhood mortality in the most severe types to occasional acral blistering in the mildest types. The subtype and severity of EB is linked to the gene involved and the specific variants in that gene, which also determine its mode of inheritance.

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Background And Aims: Palpitations are a common presentation in primary care. Guidelines have been developed to identify patients with palpitations who require further assessment by a cardiologist in secondary care. However, patients that do not meet guideline thresholds for referrals are still referred to secondary care services.

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Background: Activation of beta-1 adrenoreceptor (β1-AR) in the kidney releases renin that plays a major role in the maintenance of blood pressure. Genetic variation in β1-AR could therefore alter the physiological and clinical effects of this hormone. We tested this hypothesis in patients from a primary care cohort being screened for primary hyperaldosteronism (n = 467).

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The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterized by thickening of the epidermis of the palms and soles. No classification system satisfactorily unites clinical presentation, pathology and molecular pathogenesis. There are four patterns of hyperkeratosis - striate, focal, diffuse and punctate.

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Congenital erythroderma is a rare and often life-threatening condition, which has been shown to result from mutations in several genes encoding important components of the epidermal differentiation program. Using whole exome sequencing, we identified in a child with congenital exfoliative erythroderma, hypotrichosis, severe nail dystrophy and failure to thrive, two heterozygous mutations in ABCA12 (c.2956C>T, p.

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We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals referred with a diagnosis of Gillespie syndrome (iris hypoplasia, ataxia and mild to moderate developmental delay). Array-based comparative genomic hybridization identified six whole gene deletions: four encompassing PAX6 and two encompassing FOXC1.

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Objective: To improve prediction of sudden cardiac death (SCD) in patients with ischaemic cardiomyopathy (ICM). Electrical heterogeneity is known to contribute to risk of SCD. We have previously developed Regional Restitution Instability Index (R2I2), an ECG-based biomarker, which quantifies cardiac electrical instability by measuring heterogeneity in electrical restitution, and demonstrated its potential utility for risk stratification in a retrospective analysis of patients with ICM.

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Background: Atopic dermatitis (AD; eczema) is characterized by a widespread abnormality in cutaneous barrier function and propensity to inflammation. Filaggrin is a multifunctional protein and plays a key role in skin barrier formation. Loss-of-function mutations in the gene encoding filaggrin (FLG) are a highly significant risk factor for atopic disease, but the molecular mechanisms leading to dermatitis remain unclear.

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Aims: The current challenge in atrial fibrillation (AF) treatment is to develop effective, efficient, and safe ablation strategies. This randomized controlled trial assesses the medium-term efficacy of duty-cycled radiofrequency ablation via the circular pulmonary vein ablation catheter (PVAC) vs. conventional electro-anatomically guided wide-area circumferential ablation (WACA).

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Introduction: The role of substrates in the maintenance of persistent atrial fibrillation (persAF) remains poorly understood. The use of dominant frequency (DF) mapping to guide catheter ablation has been proposed as a potential strategy, but the characteristics of high DF sites have not been extensively studied. This study aimed to assess the DF spatiotemporal stability using high density noncontact mapping (NCM) in persAF.

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Background: Food-dependent exercise-induced anaphylaxis (FDEIA) is a serious food allergy in which anaphylaxis develops when exercise is performed within several hours after food intake. The precise mechanism underlying allergic sensitization in FDEIA has been an important issue but remains poorly understood.

Objectives: We aimed to elucidate the pathomechanism including the route of allergen sensitization involved in FDEIA.

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Background: Atopic dermatitis (AD) is a major inflammatory condition of the skin caused by inherited skin barrier deficiency, with mutations in the filaggrin gene predisposing to development of AD. Support for barrier deficiency initiating AD came from flaky tail mice, which have a frameshift mutation in Flg and also carry an unknown gene, matted, causing a matted hair phenotype.

Objective: We sought to identify the matted mutant gene in mice and further define whether mutations in the human gene were associated with AD.

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Introduction: Percutaneous catheter radiofrequency ablation (RFA) has been widely used to treat patients with atrial fibrillation (AF). Success rates are, however, variable and optimal levels of power used and duration of power delivery have not been fully established. Different ablation centers continue to use various power protocols.

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Keratin 7 (K7) is a Type II member of the keratin superfamily and despite its widespread expression in different types of simple and transitional epithelia, its functional role in vivo remains elusive, in part due to the lack of any appropriate mouse models or any human diseases that are associated with KRT7 gene mutations. Using conventional gene targeting in mouse embryonic stem cells, we report here the generation and characterisation of the first K7 knockout mouse. Loss of K7 led to increased proliferation of the bladder urothelium although this was not associated with hyperplasia.

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