30 research outputs found
Lambda production in central Pb+Pb collisions at CERN-SPS energies
In this paper we present recent results from the NA49 experiment for
and hyperons produced in central Pb+Pb collisions at
40, 80 and 158 AGeV. Transverse mass spectra and rapidity distributions
for are shown for all three energies. The shape of the rapidity
distribution becomes flatter with increasing beam energy. The multiplicities at
mid-rapidity as well as the total yields are studied as a function of collision
energy including AGS measurements. The ratio at mid-rapidity and
in 4 has a maximum around 40 AGeV. In addition,
rapidity distributions have been measured at 40 and 80 AGeV, which
allows to study the / ratio.Comment: SQM proceedings. J. Phys. G: Nucl. Part. Phys.: submitte
A novel missense mutation in Dax-1 with an unusual presentation of X-linked adrenal hypoplasia congenita
A male presented at age 2.2 years with a 6-week history of intermittent vomiting and hyperpigmentation. Investigations showed salt wasting with hyperkalaemia, a grossly impaired cortisol response to ACTH stimulation, elevated renin and ACTH. Family history revealed that two maternal uncles had died soon after birth. A third uncle failed to thrive during infancy but improved with a course of cortisone, then being untreated until further investigation revealed adrenal insufficiency. A fourth uncle died aged 10 days, with urinary salt loss and hypoplastic adrenal glands at postmortem. Molecular studies on the proband, his mother, maternal grandmother, and surviving uncle showed a novel C to G substitution at nucleotide position 794 (missense mutation T265R) in the DAX1 (NR0B1) gene. The proband has responded well to steroid replacement but has proved sensitive to 9α-fludrocortisone treatment, developing hypertension on a dose of 133 μg/m2/day. At 8.8 years he was noted to have testicular volumes of 4 ml, despite no other evidence of secondary sexual development and prepubertal gonadotrophin levels. Novel features of this family include a novel DAX1 mutation, marked variability in age of presentation, hypertension on ‘standard’ doses of 9α-fludrocortisone and mild testicular enla