Rett syndrome: clinical update and review of recent genetic advances.

Rett syndrome, a severe neurodevelopmental disorder occurring almost exclusively in females, is thought to be the second most common cause of profound mental retardation in females after Down syndrome. Recent genetic advances suggest the gene for Rett syndrome to be located on the distal arm of the X chromosome, Xq28. This manuscript reviews the clinical phenotype, natural history and current genetic understanding of the disorder.

Strategies used by burns nurses to cope with the infliction of pain on patients.

The infliction of pain on patients is part of the daily routine for many nurses, particularly those who work in burns units, but there has been little help available for nurses to develop useful ways of coping with such circumstances. Few researchers have considered how the ways that nurses manage their feelings about pain may provide insights into the reasons why available pain control methods have not been fully practiced. The aim of this study was to identify the range of coping strategies used by nurses when conducting painful procedures.

Prolonged QT interval in Rett syndrome.

Rett syndrome is a severe neurodevelopmental disorder of unknown aetiology. A prolonged QT interval has been described previously in patients with Rett syndrome. To investigate QT prolongation and the presence of cardiac tachyarrhythmias in Rett syndrome electrocardiography and 24 hour Holter monitoring were performed prospectively in a cohort of 34 girls with Rett syndrome.

Rett syndrome: randomized controlled trial of L-carnitine.

Rett syndrome is a severe neurodevelopmental disorder of unknown etiology, occurring almost exclusively in female patients. The etiology and functional significance of plasma carnitine deficiency seen in some patients with Rett syndrome is unknown. To investigate whether L-carnitine might be of benefit in Rett syndrome, a randomized, placebo-controlled, double-blind crossover trial of L-carnitine has been completed in 35 subjects.

Crystalloids, colloids and kids: a review of paediatric burns in intensive care.

This is a retrospective review of all burns patients admitted to a paediatric intensive care unit (PICU) over a 7 year period. Resuscitation fluid therapy and clinical course are presented. Ninety-eight new burns victims were admitted with a mortality rate of 10.

A comparison of IL-2 levels in nasopharyngeal and endotracheal aspirates of babies with respiratory syncytial viral bronchiolitis.

Background: Cytokines such as IL-2 are thought to be important in the pathogenesis of respiratory tract inflammation. Cytokine levels in nasopharyngeal aspirates (NPAs) have been used as a measure of respiratory inflammation in children with viral infections, but it is unclear whether they reflect levels in the lower respiratory tract.

Objective: We sought to assess the correlation between IL-2 levels in the nasopharyngeal and endotracheal secretions of children intubated with respiratory syncytial virus (RSV)-positive bronchiolitis.

Macroangiopathy--does it play a role in young people?

Using a novel ultrasound method, brachial artery endothelial and smooth muscle physiology were studied in 20 adolescents with IDDM and in 20 nondiabetic subjects matched for age (13-22 years), gender and vessel size. Endothelium-dependent dilatation (EDD) was assessed in response to flow (EDD) and endothelium-independent vasodilatation after sublingual glyceryl trinitrate (GTN). Both EDD and GTN were reduced in those with IDDM compared with controls: 5 vs.

A comparison of the effects of patients' pain on nurses working in burns and neonatal intensive care units.

Nurses are more likely than other health professionals to be exposed to individuals who suffer severe pain for extended periods of time. Such exposure is likely to arouse emotional distress which not only has implications for their occupational health but may interfere with their ability to manage pain effectively. This study compared the emotional reactions to their patients' pain, of nurses who were exposed to patients with severe and obvious pain (nurses working in burns units) and nurses whose patients' pain is uncertain because they are unable to communicate (nurses working in neonatal intensive care units).

A review of open biopsy for mediastinal masses.

Objective: To review the recent experience with biopsied mediastinal lesions in children and to assess the impact of recent advances in imaging and surgical techniques on diagnosis.

Methodology: The clinical and radiological features of 55 patients who had mediastinal biopsies at The Royal Alexandra Hospital For Children (RAHC) over 15 years were reviewed.

Results: Fifty-five patients presented to RAHC between 1978 and 1993 with lesions of the mediastinum requiring biopsy of that site.

Beware of Cloudy Serum.

An 11 1/2-year-old African-American male presented with a 3-day history of abdominal pain that was constant, dull, and localized to the right lower quadrant. It was associated with anorexia, bile-stained vomiting, and enema-relieved constipation. His white blood cell count was elevated and the serum was lipemic.

Prenatal diagnosis of hypoplastic left heart syndrome.

Over a 21-month period 200 fetal echocardiographic studies were performed on pregnancies at high risk for congenital heart disease referred to the NSW Fetal Echocardiography Service. Four cases of hypoplastic left heart syndrome were diagnosed in-utero during this period. These cases demonstrated the heterogeneity of this lesion, its known association with other defects and chromosomal anomalies, and evidence of in-utero evolution.