Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.

Familial hypercholesterolaemia (FH) is a common single gene disorder, pre-disposing to cardiovascular disease, which is most commonly caused by mutations in the LDL-receptor (LDLR) gene. About 5% of patients carry the p.R3527Q (previously R3500Q) mutation in the apolipoprotein B (APOB) gene and 2% carry the p.D374Y mutation in the PCSK9 gene, but the lack of high-throughput methods make routine genetic diagnosis difficult. In this study, we developed an iPLEX MassARRAY Spectrometry mutation test to identify 56 mutations (54 in the LDLR gene, 1 in the APOB gene and 1 in the PCSK9 gene). The iPLEX test was verified by analysing 150 DNA samples from FH patients with a previously characterized mutation and 96 no-mutation control samples. Mutations were identified in all 150 FH mutation-positive samples using the iPLEX assay, with 96% directly called by the software. The false-positive rate in no-mutation control samples was 0.015%. The overall specific mutation assay failure rate was 2.1%. In the UK, this gives an average detection rate of 75%.The FH iPLEX test is not only designed for large-scale targeted population screening for FH mutations, such as lipid clinic patients, but can also be used for population screening. The assay can easily be developed further to include additional FH-causing mutations, thus increasing the sensitivity of the diagnostic assay.

Care of the elective intracoronary stent patient.

Recently, the Palmaz-Schatz coronary stent was approved by the FDA as an alternative to coronary angioplasty in the treatment of de novo native coronary stenosis. Developed by Dr. Julio Palmaz and Dr. Richard Schatz, the Palmaz-Schatz intracoronary stent design was implanted in 1987 at Brooke Army Medical Center. During the past 7 years, The University of Texas Health Science Center-San Antonio (clinical sites include University Hospital, Brooke Army Medical Center, and Audie Murphy Veterans Administration Hospital) has used this intracoronary stent to treat more than 300 patients. Nursing care for this patient population is both distinct and challenging. Successful patient outcomes require a knowledgeable staff and a team approach. This article will emphasize the nursing care and patient education required both before and after the stent procedure, as well as considerations for long-term follow-up.