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. METHODS: Patients with CHED were screened for mutations in the SLC4A11 gene and underwent audiometric testing. The patients and their parents underwent a clinical examination and specular microscopy. RESULTS: Molecular analyses confirmed SLC4A11 mutations in 4 affected individuals from 3 families. All the patients were found to have varying degrees of sensorineural hearing loss at a higher frequency range. Guttate lesions were seen in 2 of the 4 parents who were available for examination. CONCLUSIONS: Our observations suggest that CHED caused by homozygous SLC4A11 mutations progresses to Harboyan syndrome, but the severity of this may vary considerably. Patients with CHED should therefore be monitored for progressive hearing loss. We could not determine conclusively whether the parents of the patients with CHED were at increased risk of developing late-onset 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. CASE PRESENTATION: Here we present a case of a rapidly expanding abdominal aortic aneurysm in a 68-year-old Caucasian man with a concomitant lower respiratory tract infection and systemic sepsis requiring intensive monitoring and urgent endovascular intervention. Our patient had an uncomplicated post-operative recovery and a follow-up computed tomography scan at one month demonstrated no evidence of an endoleak. CONCLUSION: This case highlights the potential association between pulmonary sepsis and rapid abdominal aortic aneurysm expansion. In such cases, a policy of frequent monitoring should be adopted to identify those patients requiring definitive management.

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. Face-to-face interviews were conducted to document information on departmental facilities available for investigating cases of occupational asthma and utilization of tertiary referral centres. RESULTS: In total, 66% of consultants interviewed had seen a case of occupational asthma in the previous month, and 76% reported having ever referred a patient with suspected occupational asthma to a specialist centre for further investigation (referral distance range 1-111 miles). All the departments were able to perform the investigations previously deemed an absolute necessity in all patients. The availability of in-house facilities that were deemed as must be available varied between 3-100%. CONCLUSIONS: The results of this study demonstrate that while the majority of basic facilities are widely available, many respiratory departments do not have direct access to investigations routinely required to investigate occupational asthma. Access to specialist occupational respiratory centres varies within the UK, and in some parts of the country involves long travelling distances for patients.