The response of Lemna trisulca L. to cadmium

Lemna trisulca was grown, using aseptic culture techniques in a filter-sterilized medium, a portion of which was replaced regularly during experiments. L. trisulca responded to the addition of 0.64 microM Cd with a reduction in multiplication rate (MR) 2 +/- 1 days after exposure. The internal Cd content reached 1000 +/- 140 microg Cd/g (dry wt) within 2 days exposure to 0.64 microM Cd. The final yield was reduced by an average of c.8% for each day of exposure to 0.64 microM Cd in a 14 day experiment. This implies that an equilibration period should be used for short-term bioassay tests before the effect of a toxicant is determined. Pretreating L. trisulca with 0.08 or 0.32 microM Cd for 6 weeks had no significant effect on MR or Cd uptake when plants were subsequently exposed to a range of Cd concentrations or grown in a control medium. This suggests that L. trisulca does not become acclimated to elevated Cd concentrations. The MR of L. trisulca fluctuated over a period of almost 600 days and the doubling time ranged from 1.6 to 2.4 days. This produced more than a fivefold difference in final yield in experiments of 14 days duration. The reduction in MR in response to 0.32 microM Cd during this same 600 days period averaged 24% with a coefficient of variation of 38%, and varied with the MR of control cultures. Fluctuations in the intrinsic growth rate and the effect of a toxicant on L. trisulca could potentially confound the assessment of toxicity and must be carefully considered when designing test protocols for aquatic plants.     

Prenatal diagnosis of acute bladder distension associated with fetal sacrococcygeal teratoma—a case report

A case report of sacrococcygeal teratoma prenatally diagnosed at 23 weeks of amenorrhea, subsequently causing dilatation of both lower and upper urinary tracts is presented. The importance of repeated ultrasonographic evaluation of fetuses with sacrococcygeal teratoma is discussed.     

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

Background

Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity categories (mild, moderate, severe, and profound) to 176 genes screened by ECS. Disease traits defining severity categories in the algorithm were then mapped to four severity-related ECS panel design criteria cited by the American College of Obstetricians and Gynecologists (ACOG).

Methods

Eight genetic counselors (GCs) and four medical geneticists (MDs) applied the severity algorithm to subsets of 176 genes. MDs and GCs then determined by group consensus how each of these disease traits mapped to ACOG severity criteria, enabling determination of the number of ACOG severity criteria met by each gene.

Results

Upon consensus GC and MD application of the severity algorithm, 68 (39%) genes were classified as profound, 71 (40%) as severe, 36 (20%) as moderate, and one (1%) as mild. After mapping of disease traits to ACOG severity criteria, 170 out of 176 genes (96.6%) were found to meet at least one of the four criteria, 129 genes (73.3%) met at least two, 73 genes (41.5%) met at least three, and 17 genes (9.7%) met all four.

Conclusion

This study classified the severity of a large set of Mendelian genes by collaborative clinical expert application of a trait-based algorithm. Further, it operationalized difficult to interpret ACOG severity criteria via mapping of disease traits, thereby promoting consistency of ACOG criteria interpretation.