Caring for the cardiac transplant patient.

The care of a child after cardiac transplantation is similar to the care of any child after cardiac surgery. In this article, the program at The Children's Hospital in Boston and the nursing management have been discussed. The focal points of nursing care are: (1) to continually monitor and assess the child's cardiovascular stability; (2) to prepare the child and family for the first endomyocardial biopsy and subsequent care; (3) to begin teaching about denervation and heart function, dietary modification, medications, infection, and rejection; and (4) to prepare the child and family for transfer from the CICU. The nursing care of a child who had a cardiac transplant is an exciting challenge for critical care nurses. As advances in the various aspects of transplantation are made, critical care nurses will assume more responsibility and actively participate in these advances. It is the art and science of critical care nursing that will contribute to the family integrity and the healthy lifestyle of the child.

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.

Hyperekplexia is a rare condition characterised by the presence of neonatal hypertonia and an exaggerated startle response. Mutations have been described in GLRA1, the gene encoding the alpha 1 subunit of the glycine receptor, in dominant families with hyperekplexia and in a single sporadic case, thought to represent an autosomal recessive form of the disease. In this study the coding region of the GLRA1 was analysed in eight probands with hyperekplexia by restriction digest and sequencing. Two familial cases were found to possess the previously described G1192A (R271Q) mutation in exon 6. In an additional family in which hyperekplexia cosegregates with spastic paraparesis, a novel A to G transversion at nucleotide 1206 in exon 6 was detected that changes a lysine at amino acid 276 to a glutamate (K276E). In four sporadic cases no mutations were found. In addition, one familial case did not have a mutation in the coding region of the gene.