Acetyl transferase EP300 deficiency leads to chronic replication stress mediated by defective fork protection at stalled replication forks.

Mutations in the epigenetic regulator and global transcriptional activator, E1A binding protein (EP300), is being increasingly reported in aggressive hematological malignancies including adult T-cell leukemia/lymphoma (ATLL). However, the mechanistic contribution of EP300 dysregulation to cancer initiation and progression are currently unknown. Independent inhibition of EP300 in human cells results in the differential expression of genes involved in regulating the cell cycle, DNA replication and DNA damage response.

Systemic corticosteroid use in UK Uveitis practice: results from the ocular inflammation steroid toxicity risk (OSTRICH) study.

Objectives: To ascertain adherence to an international consensus target of ≤7.5 mg/day of prednisolone for maintenance systemic corticosteroid (CS) prescribing in uveitis and report the frequency of courses of high-dose systemic CS in the UK.

Methods: We conducted a national, multicentre audit of systemic CS prescribing for uveitis at 11 UK sites between November 2018 and March 2019.

Certification of Vision Impairment in Patients with Uveitis Attending a Specialist Clinic.

: To identify the causes of severe visual loss in a UK uveitis clinic, to suggest means of reducing incidence, and to propose improvement in data collection of vision impairment. : Retrospective case series. : Over 128 months, 76 (3.

Uveitis and Juvenile Psoriatic Arthritis or Psoriasis.

Purpose: To describe the phenotype of the uveitis that accompanies juvenile psoriatic arthritis or psoriasis.

Design: Observational case series.

Methods: Setting: Two university-based referral clinics: 1 in England, 1 in the United States.

An educational intervention to improve adherence to high-dosage patching regimen for amblyopia: a randomised controlled trial.

Background: Previous reports suggest that adherence to patching is a major issue in amblyopia treatment. We tested with an unmasked randomised controlled clinical trial whether an intense educational/motivational intervention improves adherence when a high-dose regime is prescribed.

Methods: 62 children with newly diagnosed amblyopia were randomly allocated into two treatment arms with and without educational/motivational intervention material.

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.

Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM 193003). PAX6 (11p13, OMIM 607108) mutations can also cause autosomal-dominant nystagmus, typically in association with aniridia or iris hypoplasia.