Pilot study for the neonatal screening of fragile X syndrome

An Erratum has been published for this article in Prenatal Diagnosis 23 (9), 2003, 771. Fragile X syndrome (SFX) is the commonest form of inherited mental retardation. Due to the highly variable phenotype clinical diagnosis is complicated. In nearly all cases, the disorder is caused by expansion of a CGG-repeat in the 5′-untranslated region of the FMR1 (fragile X mental retardation-1) gene. We have evaluated the feasibility, efficiency and costs of two methodologies in order to develop a simple test to screen large populations: PCR and fragile X mental retardation-1 protein (FMRP) immunodetection. We studied 100 newborn males using PCR and immunodetection (26.91 Euro). All but one amplified the CGG repeat of the FMR1 gene within the normal size range. The sample that failed to amplify showed only 28% of FMRP expression by immunodetection study; both results indicated an affected male. A further 100 males were studied only by polymerase chain reaction (PCR) (7.8 Euro); all of them amplified within the normal size range. Both methodologies, PCR and immunodetection, are feasible for screening large populations, PCR being the most suitable, economical and less time-consuming. However, it is advisable to keep slides for immunodetection when PCR fails or the external control shows no amplification. Early detection of SFX-affected individuals would represent a great benefit for their maximum social integration, due to appropriate treatment and early stimulation and would permit a cascade screening in their pedigree. Copyright © 2002 John Wiley & Sons, Ltd.     

Agonistic relationships between female mountain gorillas (Gorilla gorilla beringei)

Females in some mountain gorilla groups can be ranked on the basis of decided, non-aggressive approach-retreat interactions. However, data on four gorilla groups show that females do not form clear agonistic dominance hierarchies. Most aggressive interactions between females were undecided, and most dyads had undecided dominance relationships (Fig. 2). Females ignored aggression or responded to it aggressively more often than they responded submissively (Fig. 3). Moreover, directional inconsistency in aggression (including escalated contests) was high, and in some groups females showed significant bidirectionality in initiation of aggression (i.e., the more often they received aggression from partners, the more often they directed aggression at those partners; Fig. 4). Assigning ranks on the basis of aggressive interactions has limited power to explain variation in rates of initiating aggression and in responses and outcomes to aggression. Aggression was most common during feeding, but usually did not interrupt feeding bouts. It was proportionately more common in contexts that seem to involve competition for access to males (Figs 5, 6). This is consistent with the argument that females depend crucially on male services. As predicted by current models of female primate social relationships, agonistic relationships between gorilla females are unlike those typical in cercopithecine primates. They resemble those of some other primates and some equids in which contest competition for food is relatively unimportant and ecological costs of female transfer are low.     

Dilated coronary sinus in prenatal echocardiography; identification,associations and outcome

The dilated coronary sinus (DCS) has only recently been clearly visualised in the fetus due to progress in prenatal echography. This is a retrospective study of 22 fetuses presenting with DCS revealed by prenatal echography. We report the circumstances leading to the detection of a DCS and the neonatal outcome of these fetuses. The coronary sinus was defined as dilated depending on its visualisation in cross-section from the ‘4 chamber’ view, as well as a pseudo inter-atrial septal defect from a more posterior view. In each case the gestational age, circumstances of detection, associated anomalies and postnatal outcome are reported. The circumstances were: evaluation of a clearly identified DCS in four cases and during detailed fetal echocardiography because of suspected congenital heart disease in 18 cases. Five cases were associated with a cardiac anomaly, three with an extracardiac anomaly, six with both cardiac and extracardiac anomaly and eight were isolated. Postnatal outcome was related to the associated anomaly. In conclusion, it is important that the echography image be correctly interpreted, as a DCS often implies possible associated defects and therefore affects prognosis. When not associated with other anomalies this condition is not considered serious. Copyright © 2002 John Wiley & Sons, Ltd.     

The potential inhalation hazard posed by dioxin-contaminated soil

Conservative models were used to estimate the airborne concentrations of 2,3,7,8 tetrachlorodibenzo-p-dioxin (TCDD) vapor and particulates originating from soil containing 100 ppb TCDD. The upper-bound estimates were 3.25 pg/m³ of airborne TCDD vapor on-site and 0.51 pg/m³ for TCDD vapor 100 meters downwind. The TCDD air concentration on-site due to suspended particulate is estimated to be 1.4 pg/m³, based on a TSP level of 0.07 mg/m³. Assuming 70 years of continuous exposure to these concentrations, the upper-bound cancer risks determined from the Jury model were estimated to be 9.4 × 10⁻⁶ to 1.1 × 10⁻⁴ and 1.5 × 10⁻⁶ to 1.7 × 10⁻⁵ for inhalation of on- and off-site vapor, respectively, and 4.1 × 10⁻⁶ to 4.6 × 10⁻⁵ for dust inhalation. Since few sites have average soil concentrations as high as 100 ppb TCDD, this worst-case analysis indicates that inhalation will rarely, if ever, be a significant route of exposure to TCDD-contaminated soil. Experimental results support this claim and point to much lower risk estimates (8.4 × 10⁻⁹ to 9.9 × 10⁻⁸), suggesting that the parameters used in the Jury model are likely to overestimate the actual airborne levels of TCDD at contaminated sites.     

HYDROCLIMATIC VARIABILITY IN THE ROCKY MOUNTAINS1

ABSTRACT: The spatial and temporal variability of hydroclimatic elements were investigated in the central and northern Rocky Mountains (Colorado, Idaho, Montana, Utah, and Wyoming) during the 1951–1985 period. The three hydroclimatic elements studied were total water-year (October 1-September 30) streamflow (ST), winter (October 1-March 31) accumulated precipitation (PR), and April 1 snowpack (SN). An analysis of 14 virgin watersheds showed wide spatial djfferences in the temporal variability of SN, PR, and ST, and these were found to be caused largely by basin exposure to moist air flows. The more stable (low variability) basins were those exposed to prevailing northerly to westerly flow, while unstable (high variability) basins were exposed to occasional southwesterly to southeasterly moist flow. Snowpack was the better indicator of ST in 11 of the 14 watersheds, explaining 37 to 87 percent of the ST variance. Analysis of the spatial variability, based on all SN and PR data from across the study area, revealed 11 discrete climatic regions. Both SN and PR exhibited coherent regions of stable and unstable temporal variability. The average variability between stable and unstable regions differed by a factor of two, and the differences were best explained by the exposure of the mountain barrier to moist air flows.     

History and Importance of Land Use and Protection in the North Quabbin Region of Massachusetts (USA)

Evaluating the consequences and future of land protection requires broad temporal and spatial perspectives of ecological and cultural factors. We assessed the development of a system of protected areas comprising 37% of central Massachusetts in terms of changing rates and means of land protection. We compared protected areas to the surrounding matrix in terms of physical, biological, and historical features and used these results to raise issues concerning future planning. The rate, purpose, and means of land protection in the North Quabbin Region (168,312 ha) have been dynamic as a result of changes in cultural values and transformation of the landscape from predominantly agriculture to forest. Protected lands are managed by 25 federal and state agencies, private groups, and municipal departments and commissions and are physically and biologically typical of the regional landscape which results from (1) participation of diverse organizations with varied agendas; (2) predominance of large government acquisitions driven by landscape-scale criteria; and (3) absence of coordination among groups. The large area, relative homogeneity and largely undeveloped status of the North Quabbin Region suggest conservation goals distinct from those in the fragmented and extensively developed neighboring areas of the Connecticut River Valley and Cape Cod and Islands Region. Large tracts of forests, wetlands, and lakes in the North Quabbin Region provide (1) habitat for species requiring extensive, intact areas; (2) the opportunity to maintain broad-scale ecological processes; (3) connections to regional conservation areas; and (4) recreation. To realize the area's potential, a comprehensive plan must be based on a broad-scale perspective and historical understanding of the landscape.