Prenatal diagnosis of 46, XX/47, XXY mosaicism: A case report

A case of 46,XX/47,XXY mosaicism was diagnosed at 22 gestational weeks by amniocentesis and fetal blood sampling. After genetic counselling, the couple elected to have the pregnancy terminated. Culture of the fetal skin and both gonads confirmed the prenatal diagnosis. In external appearance, the abortus had no remarkable findings except hypospadia. Histology of both gonads showed testicular tissue without evidence of ovarian components.     

A spatial approach to combatting wildlife crime

Poaching can have devastating impacts on animal and plant numbers, and in many countries has reached crisis levels, with illegal hunters employing increasingly sophisticated techniques. We used data from an 8‐year study in Savé Valley Conservancy, Zimbabwe, to show how geographic profiling—a mathematical technique originally developed in criminology and recently applied to animal foraging and epidemiology—can be adapted for use in investigations of wildlife crime. The data set contained information on over 10,000 incidents of illegal hunting and the deaths of 6,454 wild animals. We used a subset of data for which the illegal hunters’ identities were known. Our model identified the illegal hunters’ home villages based on the spatial locations of the hunting incidences (e.g., snares). Identification of the villages was improved by manipulating the probability surface inside the conservancy to reflect the fact that although the illegal hunters mostly live outside the conservancy, the majority of hunting occurs inside the conservancy (in criminology terms, commuter crime). These results combined with rigorous simulations showed for the first time how geographic profiling can be combined with GIS data and applied to situations with more complex spatial patterns, for example, where landscape heterogeneity means some parts of the study area are less likely to be used (e.g., aquatic areas for terrestrial animals) or where landscape permeability differs (e.g., forest bats tend not to fly over open areas). More broadly, these results show how geographic profiling can be used to target antipoaching interventions more effectively and more efficiently and to develop management strategies and conservation plans in a range of conservation scenarios.     

Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype

We described a new case of mosaic isochromosome 20q revealed by amniocentesis. The propositus presented with craniofacial dysmorphism, clubfeet, and vertebral abnormalities. A 46,XX,i(20)(q10)[14]/46,XX[1] karyotype was confirmed by FISH on cultured cells. The pregnancy was terminated. From review of literature, fetus with mosaic isochromosome 20q identified on amniocentesis are most likely to be phenotypically and cytogenetically normal after birth. So we performed CGH and array-CGH to exclude another possible imbalance. We discuss here the possible relation between this chromosomal abnormality and the abnormal phenotype. Copyright © 2005 John Wiley & Sons, Ltd.     

Effects of Dram Shop,Responsible Beverage Service Training,and State Alcohol Control Laws on Underage Drinking Driver Fatal Crash Ratios

Objectives: In this study, we aimed to determine whether three minimum legal drinking age 21 (MLDA-21) laws—dram shop liability, responsible beverage service (RBS) training, and state control of alcohol sales—have had an impact on underage drinking and driving fatal crashes using annual state-level data, and compared states with strong laws to those with weak laws to examine their effect on beer consumption and fatal crash ratios.

Methods: Using the Fatality Analysis Reporting System, we calculated the ratio of drinking to nondrinking drivers under age 21 involved in fatal crashes as our key outcome measure. We used structural equation modeling to evaluate the three MLDA-21 laws. We controlled for covariates known to impact fatal crashes including: 17 additional MLDA-21 laws; administrative license revocation; blood alcohol concentration limits of.08 and.10 for driving; seat belt laws; sobriety checkpoint frequency; unemployment rates; and vehicle miles traveled. Outcome variables, in addition to the fatal crash ratios of drinking to nondrinking drivers under age 21 included state per capita beer consumption.

Results: Dram shop liability laws were associated with a 2.4% total effect decrease (direct effects: β =.019, p =.018). Similarly, RBS training laws were associated with a 3.6% total effect decrease (direct effect: β =.048, p =.001) in the ratio of drinking to nondrinking drivers under age 21 involved in fatal crashes. There was a significant relationship between dram shop liability law strength and per capita beer consumption, F (4, 1528) = 24.32, p <.001, partial η² =.016, showing states with strong dram shop liability laws (Mean (M) = 1.276) averaging significantly lower per capita beer consumption than states with weak laws (M = 1.340).

Conclusions: Dram shop liability laws and RBS laws were both associated with significantly reduced per capita beer consumption and fatal crash ratios. In practical terms, this means that dram shop liability laws are currently associated with saving an estimated 64 lives in the 45 jurisdictions that currently have the law. If the remaining 6 states adopted the dram shop law, an additional 9 lives could potentially be saved annually. Similarly, RBS training laws are associated with saving an estimated 83 lives in the 37 jurisdictions that currently have the laws. If the remaining 14 states adopted these RBS training laws, we estimate that an additional 28 lives could potentially be saved.