Prevalence in the General Population of a CFH Sequence Variant Associated with Atypical Haemolytic Uraemic Syndrome in an Extensive Family from Southwest England.

BACKGROUND/AIMS: Twenty-five members of a family from the county of Devon in England have been affected by atypical haemolytic uraemic syndrome (aHUS) associated with a CFH mutation (c.3643C>G; p.Arg1215Gly). A 65-year-old male was diagnosed with aHUS after losing a renal transplant to a thrombotic microangiopathy. Subsequent mutation screening revealed the same CFH mutation without him being knowingly related to the local kindred. We designed a study to investigate the prevalence of this mutation in the local area. In addition, we examined the diagnoses of pre-existing haemodialysis patients to determine whether other patients might unknowingly be at risk of carrying the same CFH mutation. METHODS: The Exeter Ten Thousand (EXTEND) study aims to recruit 10,000 healthy volunteers over the age of 18 years living within 25 miles of Exeter in Devon. We genotyped DNA from 4,000 EXTEND subjects for CFH c.3643C>G; p.Arg1215Gly. We reviewed the diagnoses of 294 haemodialysis patients in the Devon area and genotyped 7 patients with either end-stage renal disease of unknown aetiology, malignant hypertension or renovascular disease. RESULTS: CFH c.3643C>G; p.Arg1215Gly was not detected in any of the 7 haemodialysis patients or the 4,000 individuals within the EXTEND study. CONCLUSIONS: We conclude that CFH c.3643C>G; p.Arg1215Gly is not endemic in Devon. This reinforces our existing practice of genotyping only patients with kidney disease and evidence of a thrombotic microangiopathy for this mutation. This is the first study looking at the prevalence of CFH mutations in the general population.

[Radiological examinations that have disappeared]. / Verdwenen onderzoeken in de radiologie.

If a radiologist from 1950 could travel in time to 2011, he or she would be baffled to see how few of the radiological examinations he was familiar with, remain. We review the radiological examinations that have disappeared since X-rays were discovered, and include the causes of their disappearance. Barium studies have mainly been replaced by endoscopy, oral cholecystography by ultrasound, and intravenous urography by CT-scan. Angiography by means of a direct puncture of carotid artery and aorta has been replaced by Seldinger angiography. Pneumencephalography and myelography have been replaced by CT and MRI. Bronchography has been replaced by bronchoscopy and CT-scan, arthrography by MRI and arthroscopy. Many other radiological examinations have been replaced by ultrasound, CT or MRI.

Composite tissue transfer in burn patients.

The advent of microsurgery has presented many advantages to the reconstructive surgeon in the treatment of burns and their resultant deformities. The skilled microsurgeon has a vast armamentarium from which to choose. The best method of reconstruction requires a thorough knowledge of flap alternatives and careful patient individualization. Five clinical cases are presented.