RESUMEN
Heterotaxy results from failure to establish normal left-right asymmetry during embryonic development. Most familial cases are thought to be autosomal recessive. We have identified a family in which 4 individuals from 3 generations manifest laterality defects. Twenty-five family members have been examined. Two have complete reversal of normal laterality (situs inversus) while 2 others have asplenia, midline liver, and complex cardiac malformations (situs ambiguus). Two additional obligate gene carriers are anatomically normal (situs solitus). Male-to-male transmission confirms autosomal inheritance. Identification of this family establishes an autosomal dominant form of laterality defect, suggesting that a portion of sporadic cases may be new-mutation dominant or unrecognized familial cases. The finding of all forms of laterality (solitus, ambiguus, and inversus) among obligate disease gene carriers within a single family may be relevant to genetic evaluation and counseling in apparently isolated patients with laterality disturbance.
Asunto(s)
Aberraciones Cromosómicas , Trastornos de los Cromosomas , Genes Dominantes , Situs Inversus/genética , Femenino , Humanos , Masculino , LinajeRESUMEN
The invariant cross section as a function of transverse momentum for antideuterons produced in 158A GeV/c per nucleon Pb+Pb central collisions has been measured by the NA44 experiment at CERN. This measurement, together with a measurement of antiprotons, allows for the determination of the antideuteron coalescence parameter. The extracted coalescence radius is found to agree with the deuteron coalescence radius and radii determined from two particle correlations.
RESUMEN
Iris crystals in three patients with idiopathic iridocyclitis, Fuchs' heterochromic iridocyclitis, and iridocyclitis associated with systemic pseudolymphoma are described. Two patients had iris crystals in one eye, and the other patient had bilateral involvement. The number of iris crystals in each eye ranged from one to multiple crystals. Iris crystals were minute and refractile and glistened with light; they have previously been reported to be Russell bodies and to be associated with hypergammaglobulinaemia. However, two of the patients, who underwent serum protein electrophoresis, did not demonstrate hypergammaglobulinaemia.
Asunto(s)
Iridociclitis/patología , Iris/patología , Adulto , Niño , Enfermedad Crónica , Cristalización , Femenino , Humanos , MasculinoRESUMEN
A method is described for calculating the absorbed dose rate in tissue around encapsulated linear radium- or 137Cs-sources. A variable factor is derived relating this quantity to the absorbed dose rate from the unshielded source in air. This factor depends on a set of geometrical parameters including some data concerning the shape of the source ends.
Asunto(s)
Braquiterapia , Radioisótopos de Cesio , Radio (Elemento) , Matemática , Platino (Metal) , Dosificación RadioterapéuticaRESUMEN
Two-particle interferometry of positive kaons is studied in Pb+Pb collisions at mean transverse momenta
approximately 0.25 and 0.91 GeV/c. A three-dimensional analysis was applied to the lower p(T) data, while a two-dimensional analysis was used for the higher p(T) data. We find that the source-size parameters are consistent with the m(T) scaling curve observed in pion-correlation measurements in the same collisions, and that the duration time of kaon emission is consistent with zero within the experimental sensitivity.