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In the past year, ten infants have been admitted to hospital with a new or previously unrecognised disorder, characterised by an acute onset of encephalopathy, fever, shock, watery diarrhoea, severe disseminated intravascular coagulation, and renal and hepatic dysfunction. Seven of the infants died. No specific causative agent has been identified, but(More)
To further define the clinical, pathologic, and biochemical features of hemorrhagic shock and encephalopathy syndrome, we studied 25 affected children (aged 3 months to 14 years) admitted to a single center between 1982 and 1985. A prodromal illness comprising vomiting, diarrhea, listlessness, and fever was present in 84% of the cases. Acute onset of shock,(More)
Inherited mutations in the tumor susceptibility genes BRCA1 and BRCA2 account for about 70%–90% of familial breast cancer in most Caucasian populations while BRCA1 mutations alone contribute to about half of the cases (1– 3). Epidemiologic data from Caucasians show that BRCA1 mutations occur in the general population at a frequency between 0.05% and 0.2%.(More)
1. Endogenous nitric oxide plays an important physiological role and is synthesized by several isoforms of nitric oxide synthase from the semiessential amino acid L-arginine. Nitric oxide is detectable in the exhaled air of normal individuals and may be used to monitor the formation of nitric oxide in the respiratory tract. 2. We have investigated the(More)
P. T. CLAYTON 1, B. D. LAKE 1, M. HJELM 1, J. B. P. STEPHENSON 2, G. T. N. BESEEM 3, R. J. A. WANDERS 4, A. W. SCHRAM 4, J. M. TAGER 4, R. B. H. SCHVTCENS 4 and A. M. LAWSON s ~Institute of Child Health, London WC1, UK; 2Royal Hospital for Sick Children, Yorkhitl, Glasgow, UK; 3Royal Hospital for Sick Children, Edinburgh, UK; 4University of Amsterdam,(More)
DNA was analysed from 20 patients with congenital adrenal hyperplasia due to cytochrome P-450 steroid 21-hydroxylase deficiency. Using probes recognising sequences in both the 21-hydroxylase gene and the adjacent fourth component of complement (C4), one patient was found to have a homozygous deletion of DNA which encompassed the C4B and 21-hydroxylase B(More)