Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.

Purpose: Homozygous mutations in SLC4A11 cause 2 rare recessive conditions: congenital hereditary endothelial dystrophy (CHED), affecting the cornea alone, and Harboyan syndrome consisting of corneal dystrophy and sensorineural hearing loss. In addition, adult-onset Fuchs endothelial corneal dystrophy (FECD) is associated with dominant mutations in SLC4A11. In this report, we investigate whether patients with CHED go on to develop hearing loss and whether their parents, who are carriers of an SLC4A11 mutation, show signs of having FECD.

Lower respiratory tract infection and rapid expansion of an abdominal aortic aneurysm: a case report.

Introduction: The rate of abdominal aortic aneurysm expansion is related to multiple factors. There is some evidence that inflammation can accelerate aneurysm expansion. However, the association between pulmonary sepsis and rapid abdominal aortic aneurysm expansion is rarely reported.

Facilities for investigating occupational asthma in UK non-specialist respiratory departments.

Background: The facilities which should be available to physicians offering specialist occupational asthma services have recently been agreed upon by a UK panel of experts.

Aims: This study aimed to investigate whether these facilities are available in UK non-specialist secondary care respiratory departments and to document tertiary care referral patterns.

Methods: A random sample of 100 UK respiratory units was selected, and the lead consultant invited to participate.