Validation of a French Version of the Visual Function and Corneal Health Status Instrument and Correlation With Vision and Glare Measurements in Fuchs Endothelial Corneal Dystrophy.

Purpose: To validate a French version of the Visual Function and Corneal Health Status (V-FUCHS) instrument in Fuchs endothelial corneal dystrophy (FECD) and to correlate questionnaire scores with objective measurements of best-corrected visual acuity (BCVA) and intraocular straylight.

Methods: The original V-FUCHS 15-item instrument was designed to assess VA and glare in patients with FECD. It was translated from English to French and back translated to English by independent translators.

Intracameral Fibrinous Reaction During Descemet's Membrane Endothelial Keratoplasty.

Purpose: To determine the outcomes and predisposing factors of Descemet's membrane endothelial keratoplasty () complicated by intraoperative fibrinous reaction.

Methods: Retrospective cohort study of 346 DMEKs. Medical charts were reviewed for recipient demographics, surgical indications, donor characteristics, and potential predisposing ocular and systemic factors.

Typing myalgic encephalomyelitis by infection at onset: A DecodeME study.

Background: People with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) experience core symptoms of post-exertional malaise, unrefreshing sleep, and cognitive impairment. Despite numbering 0.2-0.

Colocalization of corneal resistance factor GWAS loci with GTEx e/sQTLs highlights plausible candidate causal genes for keratoconus postnatal corneal stroma weakening.

Genome-wide association studies (GWAS) for corneal resistance factor (CRF) have identified 100s of loci and proved useful to uncover genetic determinants for keratoconus, a corneal ectasia of early-adulthood onset and common indication of corneal transplantation. In the current absence of studies to probe the impact of candidate causal variants in the cornea, we aimed to fill some of this knowledge gap by leveraging tissue-shared genetic effects. 181 CRF signals were examined for evidence of colocalization with genetic signals affecting steady-state gene transcription and splicing in adult, non-eye, tissues of the Genotype-Tissue Expression (GTEx) project.

Genome-Wide Association Analysis and Genomic Prediction of Thyroglobulin Plasma Levels.

Thyroglobulin (Tg) is an iodoglycoprotein produced by thyroid follicular cells which acts as an essential substrate for thyroid hormone synthesis. To date, only one genome-wide association study (GWAS) of plasma Tg levels has been performed by our research group. Utilizing recent advancements in computation and modeling, we apply a Bayesian approach to the probabilistic inference of the genetic architecture of Tg.

SNP and Haplotype Regional Heritability Mapping (SNHap-RHM): Joint Mapping of Common and Rare Variation Affecting Complex Traits.

We describe a genome-wide analytical approach, SNP and Haplotype Regional Heritability Mapping (SNHap-RHM), that provides regional estimates of the heritability across locally defined regions in the genome. This approach utilises relationship matrices that are based on sharing of SNP and haplotype alleles at local haplotype blocks delimited by recombination boundaries in the genome. We implemented the approach on simulated data and show that the haplotype-based regional GRMs capture variation that is complementary to that captured by SNP-based regional GRMs, and thus justifying the fitting of the two GRMs jointly in a single analysis (SNHap-RHM).

BNT162b2 vaccine-induced humoral and cellular responses against SARS-CoV-2 variants in systemic lupus erythematosus.

Objectives: Our aim was to evaluate systemic lupus erythematosus (SLE) disease activity and SARS-CoV-2-specific immune responses after BNT162b2 vaccination.

Methods: In this prospective study, disease activity and clinical assessments were recorded from the first dose of vaccine until day 15 after the second dose in 126 patients with SLE. SARS-CoV-2 antibody responses were measured against wild-type spike antigen, while serum-neutralising activity was assessed against the SARS-CoV-2 historical strain and variants of concerns (VOCs).

Variants associated with expression have sex-differential effects on lung function.

Lung function is highly heritable and differs between the sexes throughout life. However, little is known about sex-differential genetic effects on lung function. We aimed to conduct the first genome-wide genotype-by-sex interaction study on lung function to identify genetic effects that differ between males and females.

Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants.

Corneal resistance factor (CRF) is altered during corneal diseases progression. Genome-wide-association studies (GWAS) indicated potential CRF and disease genetics overlap. Here, we characterise 135 CRF loci following GWAS in 76029 UK Biobank participants.

Characterisation of an inflammation-related epigenetic score and its association with cognitive ability.

Background: Chronic systemic inflammation has been associated with incident dementia, but its association with age-related cognitive decline is less clear. The acute responses of many inflammatory biomarkers mean they may provide an unreliable picture of the chronicity of inflammation. Recently, a large-scale epigenome-wide association study identified DNA methylation correlates of C-reactive protein (CRP)-a widely used acute-phase inflammatory biomarker.

Linking protein to phenotype with Mendelian Randomization detects 38 proteins with causal roles in human diseases and traits.

To efficiently transform genetic associations into drug targets requires evidence that a particular gene, and its encoded protein, contribute causally to a disease. To achieve this, we employ a three-step proteome-by-phenome Mendelian Randomization (MR) approach. In step one, 154 protein quantitative trait loci (pQTLs) were identified and independently replicated.

Descemet membrane endothelial keratoplasty in patients with prior glaucoma surgery.

Objective: To present outcomes of Descemet membrane endothelial keratoplasty (DMEK) in eyes with prior trabeculectomy or a glaucoma drainage device (GDD).

Methods: A retrospective case series, including patients that had previously undergone trabeculectomy and/or GDD implantation, who later underwent DMEK between 2013 and 2016 at Toronto Western Hospital and the Kensington Eye Institute. Outcome measures: best spectacle-corrected visual acuity (BSCVA), endothelial cell (EC) density, intraoperative and postoperative complications.

Four-Year Survival of Descemet Membrane Endothelial Keratoplasty in Patients With Previous Glaucoma Surgery.

Purpose: To evaluate 4-year outcomes of Descemet membrane endothelial keratoplasty (DMEK) in eyes with previous glaucoma surgery.

Design: Retrospective, comparative case series.

Methods: Patients with previous trabeculectomy or glaucoma drainage device (GDD) implantation who later underwent DMEK (study group) were matched for follow-up duration with Fuchs dystrophy DMEK patients (control group).

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.

The electrocardiographic PR interval reflects atrioventricular conduction, and is associated with conduction abnormalities, pacemaker implantation, atrial fibrillation (AF), and cardiovascular mortality. Here we report a multi-ancestry (N = 293,051) genome-wide association meta-analysis for the PR interval, discovering 202 loci of which 141 have not previously been reported. Variants at identified loci increase the percentage of heritability explained, from 33.

An epigenome-wide association study of sex-specific chronological ageing.

Background: Advanced age is associated with cognitive and physical decline and is a major risk factor for a multitude of disorders. There is also a gap in life expectancy between males and females. DNA methylation differences have been shown to be associated with both age and sex.

Withdrawal of low-dose prednisone in SLE patients with a clinically quiescent disease for more than 1 year: a randomised clinical trial.

Objectives: To compare the efficacy to prevent flares of maintenance versus withdrawal of 5 mg/day prednisone in systemic lupus erythematosus (SLE) patients with clinically quiescent disease.

Methods: A monocentric, 12-month, superiority, open-label, randomised (1:1) controlled trial was conducted with 61 patients continuing 5 mg/day prednisone and 63 stopping it. Eligibility criteria were SLE patients who, during the year preceding the inclusion, had a clinically inactive disease and a stable SLE treatment including 5 mg/day prednisone.