Ocular motor dysfunction in Lesch-Nyhan disease.

Eye movements were assessed in 22 patients with varying degrees of hypoxanthine-guanine phosphoribosyltransferase deficiency. Ocular motility was clinically normal in seven patients with moderate enzyme deficiency but grossly abnormal in 15 patients with severe enzyme deficiency. In patients with severe deficiency, fixation was interrupted by frequent unwanted saccades toward minor visual distractions. Voluntary saccades were associated with an initial head movement and/or eyeblink in all of these patients. When head motion was prevented, voluntary saccades were often delayed and sometimes absent. In contrast, saccade speed, reflexive saccades, and other reflexive eye movements appeared clinically normal. Four patients with severe enzyme deficiency also experienced mild blepharospasm, and two had ocular tics. These disturbances of ocular motility are consistent with dysfunction of the basal ganglia or its connections with ocular motor centers in the prefrontal cortex or midbrain.

The effect of smoking during pregnancy on cord blood and maternal serum immunoglobulin levels.

The effect of smoking on the fetal and maternal humoral immune parameters was evaluated in cord and maternal blood, collected at delivery from 163 mothers who smoked and 130 mothers who did not smoke, and their offspring. There was no difference in time of gestation between the two groups, but the mean birth weight of the offspring of mothers who smoked was decreased, as previously observed. There were higher levels of IgA (p less than 0.01), IgM (p less than 0.001), and IgG (p less than 0.001) in cord sera of children of mothers who smoked than in the offspring of mothers who did not smoke. Mothers themselves who smoked had higher levels of IgM (p less than 0.001) and IgG (p less than 0.001), but not IgA, as compared to control mothers who did not smoke. Since cord IgA and IgM are produced by the fetus, these results could be interpreted as being due to either a higher incidence of infection in utero or metabolic differences in the children of mothers who smoke. Either of these possibilities may explain the increased frequency of postpartum endometritis, increased incidence of fetal distress, and the characteristic of meconium-stained amniotic fluid in mothers who smoke.

PIP: The effect of smoking on the fetal and maternal humoral immune parameters was evaluated in cord and maternal blood, collected at delivery from 163 mothers who smoked and 130 who did not and their offspring. There was no difference in time of gestation between the 2 groups, but the mean birthweight of the offspring of mothers who smoked was decreased, as previously observed. There were higher levels of IgA (p0.01), IgM (p0.001), and IgG (p0.001) in cord sera of children whose mothers smoked than in the offspring of mothers who did not. Mothers themselves who smoked had higher levels of IgM (p0.001) and IgG (p0.001), but not IgA, as compared to control mothers who did not smoke. Since cord IgA and IgM are produced by the fetus, these results could be interpreted as being due to either a higher incidence of infection in utero or metabolic differences in the children of mothers who smoke. Either of these possibilities may explain the increased frequency of postpartum endometritis, increased incidence of fetal distress, and the characteristic of meconium stained amniotic fluid in mothers who smoke.

The effect of maternal responder status on the genetic control of the antibody response.

Various genetic models were examined with regard to the control of the antibody response in rats. Distributions of the response to poly(Glu52Lys33Tyr15) were determined in the inbred ACI (high responder) and F344 (low responder) strains and in the F1, F2 and backcross generations. Falconer's test for the effective number of genes showed that there was a larger number of genes involved if the maternal parent were the high responder strain. Studies in mating combinations involving high and moderate responders showed that the effective number of genes influencing the antibody response was much lower than in the mating between the high and low responders. Theoretical distributions of antibody response levels were generated using Monte Carlo techniques. The Kolmogorov-Smirnov goodness-of-fit test indicated that a three-gene model best fitted the matings involving the ACI female and that a two-gene model best fitted the matings involving the F344 female. These calculations indicate that the antibody response is a complex, multifactorial trait whose expression is significantly affected by the responder status of the maternal strain.

Immune responses to some proteins and synthetic polypeptides in inbred strains of rats.

The antibody responses to DNP-bovine gamma globulin, bovine gamma globulin, human serum albumin, ovalbumin, pepsin and five synthetic polypeptides were examined in strains of inbred rats representative of eight common major histocompatibility complex (RTI) haplotypes. With each antigen the antibody response varied considerably among strains, and the data provide many potential strain and antigen combinations with which to study the genetic control of the immune response.