Exams tested by Covid-19: An opportunity to rethink standardized senior secondary examinations.

The global Covid-19 pandemic is testing the responsiveness of school systems. Extensive discourse about disruptions to the standardized examinations students take in their final year of secondary school is symbolic of their high-stakes status worldwide. The interruptions provide an opportune moment to question the efficacy of exams as a measurement of achievement. To explore these issues, this article shares some on-the-ground illustrations from Australian teachers about how high-stakes exams shape their enactment of senior secondary history curriculum. The presence of a discourse of exam alignment, which places a disproportionate emphasis on preparing students for exams, has implications for teachers' curricular practices and wider equity issues. These issues resonate in other international settings, especially during the pandemic. The severity of the Covid-19 economic downturn means it is more important than ever to investigate the relationship between curricular practices and socio-economic structures, to ensure examinations do not compound educational disadvantage.

Observational cohort study examining apolipoprotein E status and preoperative neuropsychological performance as predictors of post-operative delirium in an older elective arthroplasty population.

Introduction: delirium following surgery is common and is associated with negative outcomes. Preoperative cognitive impairment has been shown to be a risk factor for post-operative delirium. Often the cognitive tests used are cumbersome. This study tests the hypothesis that the quantification of brain vulnerability, using Apolipoprotein E (ApoE) status and neuropsychological tests, both traditional and more easily administered, can quantify the risk of post-operative delirium following elective primary arthroplasty surgery. Methods: this observational cohort study recruited participants aged 65 years or older admitted prior to elective primary hip or knee arthroplasty. Baseline data was collected and participants underwent neuropsychological testing and had blood taken for ApoE genotyping preoperatively. Post-operatively participants were assessed daily for delirium using the Confusion Assessment Method (CAM) and charts were reviewed where possible for reports of delirium. Univariate and multivariate analyses of preoperative factors were undertaken to identify independent predictors of delirium. Results: between March 2012 and October 2014, 315 participants completed the study with an overall incidence of post-operative delirium of 40/315 (12.7%). Of these 18 fulfilled the CAM criteria for delirium and 22 were deemed delirious by consensus decision based on chart review. ApoE genotype was not associated with post-operative delirium in this cohort. Time taken to complete Colour Trails 2, errors in mini mental state examination and level of pain preoperatively were independent predictors of post-operative delirium. Conclusions: this study challenges the assertion that ApoE4 genotype predicts post-operative delirium. It replicates previous work suggesting cognitive impairment predicts post-operative delirium and shows for the 1st time that simple cognitive tests can be as effective as more detailed tests.

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.

Purpose: Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive (AR) syndromic inherited retinal degenerations (IRDs) representing 50% of deaf-blindness. All subtypes include retinitis pigmentosa, sensorineural hearing loss, and vestibular abnormalities. Thorough phenotyping may facilitate genetic diagnosis and intervention. Here we report the clinical/genetic features of an Irish USH cohort. Methods: USH patients were selected from the Irish IRD registry (Target 5000). Patients were examined clinically (deep-phenotyping) and genetically using a 254 IRD-associated gene target capture sequencing panel, USH2A exon, and whole genome sequencing. Results: The study identified 145 patients (24.1% USH1 [n = 35], 73.8% USH2 [n = 107], 1.4% USH3 [n = 2], and 0.7% USH4 [n = 1]). A genetic diagnosis was reached in 82.1%, the majority (80.7%) being MYO7A or USH2A genotypes. Mean visual acuity and visual field (VF) were 0.47 ± 0.58 LogMAR and 31.3° ± 32.8°, respectively, at a mean age of 43 years. Legal blindness criteria were met in 40.7%. Cataract was present in 77.4%. ADGRV1 genotypes had the most VF loss, whereas USH2A patients had greater myopia and CDH23 had the most astigmatism. Variants absent from gnomAD non-Finnish Europeans and ClinVar represented more than 20% of the variants identified and were detected in ADGRV1, ARSG, CDH23, MYO7A, and USH2A. Conclusions: USH is a genetically diverse group of AR IRDs that have a profound impact on affected individuals and their families. The prevalence and phenotype/genotype characteristics of USH in Ireland have, as yet, gone unreported. Understanding the genotype of Irish USH patients may guide clinical and genetic characterization facilitating access to existing/novel therapeutics.

Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations.

INTRODUCTION: Inherited retinal degenerations (IRD) are rare genetic disorders with > 300 known genetic loci, manifesting variably progressive visual dysfunction. IRDs were historically underserved due to lack of effective interventions. Many novel therapies will require accurate diagnosis (phenotype and genotype), thus an efficient and effective pathway for assessment and management is required. METHODS: Using surveys of existing practice patterns and advice from international experts, an all-Ireland IRD service (Target 5000) was designed. Detailed phenotyping was followed by next generation genetic sequencing in both a research and accredited laboratory. Unresolved pedigrees underwent further studies (whole gene/whole exome/whole genome sequencing). Novel variants were interrogated for pathogenicity (cascade screening, in silico analysis, functional studies). A multidisciplinary team (MDT; ophthalmologists, physicians, geneticists, genetic counsellors) reconciled phenotype with genotype. A bespoke care plan was created for each patient comprising supports, existing interventions, and novel therapies/clinical trials. RESULTS AND DISCUSSION: Prior to Target 5000, a significant cohort of patients were not engaged with healthcare/support services due to lack of effective interventions. Pathogenic or likely pathogenic variants in IRD-associated genes were detected in 62.3%, with 11.6% having variants of unknown significance. The genotyping arm of Target 5000 allowed a 42.73% cost saving over independent testing, plus the value of MDT expertise/processing. Partial funding has transferred from charitable sources to government resources. CONCLUSION: Target 5000 demonstrates efficacious and efficient clinical/genetic diagnosis, while discovering novel IRD-implicated genes/variants and investigating mechanisms of disease and avenues of intervention. This model could be used to develop similar IRD programmes in small/medium-sized nations.

Intraocular pressure (IOP) measurements in keratoconic patients: Do variations in IOP respect variations in corneal thickness and corneal curvature?

PURPOSE: To explore the relationship between intraocular pressure (IOP) measurements and topographical variations in corneal curvature and corneal thickness in a cohort of keratoconic patients presenting to a newly-established regional Keratoconic diagnostic and monitoring clinic in Northern Ireland. METHODS: IOP was recorded, using a hand held ICARE tonometer, at central, nasal and temporal locations on keratoconic corneae of 27 consecutive patients attending clinic. Pachymetry and sagittal keratometry were recorded in matched locations using the Pentacam Topographer. Eyes with history of corneal surgery or anterior surface pathology were excluded. RESULTS: The median (interquartile range) central keratometry, pachymetry (CCT) and IOP measurements for 49 eyes were 44.1D (42.2D-48.1D); 495 µm (460 µm-526 µm); 10 mmHg (8 mmHg-13 mmHg) respectively. Temporal and nasal keratometry, pachymetry, and IOP values, recorded on midline, were temporal 41.9D (40.7D-42.8D); 621 µm (579 µm-650 µm); 14 mmHg (11 mmHg-16 mmHg); nasal 40.8D (39.5D-42.5D); 641 µm (599 µm-698 µm); 13 mmHg (12 mmHg-17 mmHg). A moderate correlation was shown between reduction in CCT and increase in mean central keratometry (Spearman's Coefficient (ρ) -0.72 P = 0.00). A moderate correlation was found between reduction in CCT and reduction in IOP, as recorded centrally (ρ = 0.37 P = 0.01). Mid-peripheral values demonstrated similar trends in the relationship between keratometry and IOP (nasal ρ = -0.47 P = 0.00; temporal ρ = -0.38 P = 0.00) and pachymetry and IOP (nasal ρ = 0.29 P = 0.05; temporal ρ = 0.33 p = 0.02). CONCLUSION: In this pilot study, a positive correlation exists between pachymetry, keratometry and IOP. Topographically variations in intraocular pressure mimic changes in keratometry and pachymetry.