In-Home Intravenous Dexmedetomidine Infusion for Treatment of Dystonia: A Pediatric Case Report.

The off-label use of an intravenous dexmedetomidine infusion is an option for refractory symptoms in pediatric palliative care with a few published cases of in-home use, most limited to end-of-life care. After an intrathecal baclofen pump malfunction with meningitis and medication withdrawal, a 17-year-old adolescent with quadriparetic cerebral palsy and paroxysmal autonomic instability experienced relief of refractory pain and dystonia with an in-home intravenous dexmedetomidine infusion. His interdisciplinary care team collaborated to establish safety measures and adjust his home medication regimen to further improve quality of life well before his end of life.

SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.

Objectives: The aim of this study was to discern the role of the cardiac voltage-gated sodium ion channel SCN5A in the etiology of dilated cardiomyopathy (DCM).

Background: Dilated cardiomyopathy associates with mutations in the SCN5A gene, but the frequency, phenotype, and causative nature of these associations remain the focus of ongoing investigation.

Methods: Since 1991, DCM probands and family members have been enrolled in the Familial Cardiomyopathy Registry and extensively evaluated by clinical phenotype.

A vision of mentorship in practice.

This article explores the emotional and reflective journey of registered nurse Wendy McNair in her role as a mentor. This personal account illuminates her awareness of what makes a good mentor and how the role influences the student's perioperative experience. The information shared in this article has been extracted from her reflective portfolio created during a recent mentorship course at Edge Hill University (Manchester).

SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.

Background: We studied a large family affected by an autosomal dominant cardiac conduction disorder associated with sinus node dysfunction, arrhythmia, and right and occasionally left ventricular dilatation and dysfunction. Previous linkage analysis mapped the disease phenotype to a 30-cM region on chromosome 3p22-p25 (CMD1E). This region also contains a locus for right ventricular cardiomyopathy (ARVD5) and the cardiac sodium channel gene (SCN5A), mutations that cause isolated progressive cardiac conduction defect (Lenegre syndrome), long-QT syndrome (LQT3), and Brugada syndrome.

Thallium scintigraphy in patients with angina at rest.

Sixty six patients with angina at rest were investigated by exercise electrocardiography, thallium scintigraphy, and coronary arteriography. A positive exercise electrocardiogram was highly predictive (93%) but poorly sensitive (52%) of coronary artery disease (greater than or equal to 50% stenosis). Thallium scintigraphy was as predictive of the presence of coronary artery disease (91%) but was also highly sensitive (91%).