RÉSUMÉ
The MiniBooNE Collaboration reports a search for nu_{micro} and nu[over]_{micro} disappearance in the Deltam;{2} region of 0.5-40 eV;{2}. These measurements are important for constraining models with extra types of neutrinos, extra dimensions, and CPT violation. Fits to the shape of the nu_{micro} and nu[over]_{micro} energy spectra reveal no evidence for disappearance at the 90% confidence level (C.L.) in either mode. The test of nu[over]_{micro} disappearance probes a region below Deltam;{2} = 40 eV;{2} never explored before.
RÉSUMÉ
Tyrosinemia type II (Richner-Hanhart syndrome), which is caused by a deficiency of hepatic tyrosine aminotransferase, results in elevated plasma and urinary tyrosine concentrations. We describe a young boy who was seen at 6 months of age with red eyes, photophobia, and eye pain that were not suspected to be caused by tyrosinemia II until painful plantar keratoderma developed at 2 1/2 years of age. Treatment with a diet low in tyrosine and phenylalanine reversed the manifestations of the disease.
Sujet(s)
Aminoacidopathies congénitales/diagnostic , Kératose palmoplantaire/diagnostic , Lumière/effets indésirables , Tyrosine/sang , Aminoacidopathies congénitales/complications , Aminoacidopathies congénitales/diétothérapie , Enfant d'âge préscolaire , Humains , Kératose palmoplantaire/diétothérapie , Kératose palmoplantaire/étiologie , MâleRÉSUMÉ
Three of four siblings born to nonconsanguineous parents of Italian origin were affected with severe congenital hemolytic anemia of unknown cause, and early-onset pulmonary emphysema. Two of the three affected siblings died of septic shock after splenectomy, at the ages of 7 and 3 1/2 years, respectively. The remaining affected sibling was shown to have cutis laxa and severe pulmonary emphysema at 15 years of age. Assay of serum components indicated that alpha 1-antitrypsin and alpha 2-macroglobulin levels were normal or slightly elevated. However, there was markedly elevated activity of an elastase-like serum enzyme. The relation of the hemolytic anemia to the pulmonary findings in this family is not clear; pedigree analysis suggests a recessively inherited defect.