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Webster D.,Bristol Royal Hospital for Children
Cochrane database of systematic reviews (Online) | Year: 2010

BACKGROUND: Phenylketonuria is an inherited disease for which the main treatment is the dietary restriction of the amino acid phenylalanine. The diet has to be initiated in the neonatal period to prevent or reduce mental handicap. However, the diet is very restrictive and unpalatable and can be difficult to follow. A deficiency of the amino acid tyrosine has been suggested as a cause of some of the neuropsychological problems exhibited in phenylketonuria. Therefore, this review aims to assess the efficacy of tyrosine supplementation for phenylketonuria. OBJECTIVES: To assess the effects of tyrosine supplementation alongside or instead of a phenylalanine-restricted diet for people with phenylketonuria, who commenced on diet at diagnosis and either continued on the diet or relaxed the diet later in life. To assess the evidence that tyrosine supplementation alongside, or instead of a phenylalanine-restricted diet improves intelligence, neuropsychological performance, growth and nutritional status, mortality rate and quality of life. SEARCH STRATEGY: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Register which is comprised of references identified from comprehensive electronic database searches, handsearches of relevant journals and abstract books of conference proceedings. Additional studies were identified from handsearches of the Journal of Inherited Metabolic Disease (from inception in 1978 to 1998). The manufacturers of prescribable dietary products used in the treatment of phenylketonuria were also contacted for further references.Date of the most recent search of the Group's Inborn Errors of Metabolism Trials Register: 09 June 2010. SELECTION CRITERIA: All randomised or quasi-randomised trials investigating the use of tyrosine supplementation versus placebo in people with phenylketonuria in addition to, or instead of, a phenylalanine-restricted diet. People treated for maternal phenylketonuria were excluded. DATA COLLECTION AND ANALYSIS: Two authors independently assessed the trial eligibility, methodological quality and extracted the data. MAIN RESULTS: Six trials were found, of which three trials reporting the results of a total of 56 participants, were suitable for inclusion in the review. The blood tyrosine concentrations were significantly higher in the participants receiving tyrosine supplements than those in the placebo group, mean difference 23.46 (95% confidence interval 12.87 to 34.05). No significant differences were found between any of the other outcomes measured. AUTHORS' CONCLUSIONS: From the available evidence no recommendations can be made about whether tyrosine supplementation should be introduced into routine clinical practice. Further randomised controlled studies are required to provide more evidence. Source

Fraser J.,Bristol Royal Hospital for Children | Sidebotham P.,University of Warwick | Frederick J.,Monash University | Covington T.,Review Centre | Mitchell E.A.,University of Auckland
The Lancet | Year: 2014

Despite pronounced reductions in child mortality in industrialised countries, variations exist within and between countries. Many child deaths are preventable, and much could be done to further reduce mortality. For the family, their community, and professionals caring for them, every child's death is a tragedy. Systematic review of all child deaths is grounded in respect for the rights of children and their families, and aimed towards the prevention of future child deaths. In a Series of three papers, we discuss child death in high-income countries in the context of evolving child death review processes. This paper outlines the background to and development of child death review in the USA, England, Australia, and New Zealand. We consider the purpose, process, and outputs of child death review, and discuss how these factors can contribute to a greater understanding of children's deaths and to knowledge for the prevention of future child deaths. Source

King P.,Bristol Royal Hospital for Children
International journal of clinical practice. Supplement | Year: 2011

Down syndrome (DS) is strongly associated with pulmonary hypertension, but there are many causes requiring a multi-disciplinary approach to the problem. Nearly half of children with DS have upper airway obstruction and the same proportion have congenital heart disease, both of which may cause pulmonary hypertension. Additional problems include pulmonary hypoplasia, structural lung disease and gastro-oesophageal reflux. It is no longer acceptable to ignore these symptoms as early treatment may be preventative. © 2011 Blackwell Publishing Ltd. Source

Sale S.M.,Bristol Royal Hospital for Children
Best Practice and Research: Clinical Anaesthesiology | Year: 2010

Premature infants have immature respiratory control that predisposes them to apnoea, haemoglobin oxygen desaturation and bradycardia. Apnoeas are loosely classified, according to the presence or absence of respiratory effort, into central, obstructive or mixed. There are a variety of conditions, in the perioperative period, that predispose an infant to apnoea, including: central nervous system (CNS) lesions, infections and sepsis, ambient temperature fluctuations, cardiac abnormalities, metabolic derangements, anaemia, upper airway structural abnormalities, necrotising enterocolitis, drug administration (including opiates and general anaesthetics) and possibly gastro-oesophageal reflux. Various monitoring techniques are discussed; the mainstay are pulse oximetry and abdominal-pressure transduction. There is some evidence of both short- and long-term complications of repeated apnoeas in the neonatal period, but the causal relationship is difficult to establish. Continuous positive airway pressure and caffeine therapy (up to 10 mg kg -1) are the most common treatments of neonatal apnoea. The less soluble volatile agents and regional anaesthetic techniques (without concurrent sedation) are associated with a lower incident of postoperative apnoea. © 2010 Elsevier Ltd. All rights reserved. Source

White M.C.,Bristol Royal Hospital for Children
Paediatric Anaesthesia | Year: 2011

Congenital heart disease is the commonest birth defect, and advances in modern medicine mean 90% of these children now survive to adulthood. Therefore, many children present to their local hospital requiring general anesthesia for common childhood conditions. They pose a challenge for anesthesia because perioperative morbidity and mortality is greater compared with other children. It is impossible to prescribe a formula for anesthetizing children with heart disease because of the complexity of heart defects and the variety of noncardiac surgery. There is also a lack of high-quality data of efficacy of one anesthetic technique over another. Much data come from case series or isolated case reports. In a rapidly advancing field such as cardiac surgery, studies of long-term complications may be out of date by the time they are published, limiting applicability of the results. Because of these factors, claims of efficacy and safety of various approaches to managing children with heart disease for noncardiac surgery must be interpreted cautiously. This narrative review aims to present the evidence concerning a range of anesthetic techniques, the long-term complications of congenital heart disease and suggest a physiological and evidence-based approach to managing these children. © 2010 Blackwell Publishing Ltd. Source

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