Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors—in addition to MCAD mutations—involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.     

Prenatal diagnosis of campomelic dysplasia by ultrasonography

Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth. The next pregnancy was monitored frequently by ultrasonography and a healthy male infant was born at term. During a further pregnancy, ultrasonography suggested campomelic dysplasia in the 16th week of gestation. This was confirmed in the 18th week. The pregnancy was terminated and the fetus showed the typical radiological, anatomical and histological findings.     

Arts as a vehicle for community building and post‐disaster development

Use of the arts in international aid is common in an ad hoc form, but it has not been systematically theorised or evaluated. The arts have the potential to be a culturally contextualised and sustainable intervention for adults and children in the aftermath of war or disaster. On the micro level, the arts are a method to enable the retrieval and reprocessing of traumatic memories that are often encoded in images rather than in words. On a macro level, they can help to reconstruct a group narrative of a disaster as well as mobilise people back into control of their lives. This paper researches a long‐term project using arts in Sri Lanka following the civil war and tsunami. A central finding is the need to understand arts within their cultural context, and their usefulness in strengthening the voices and problem‐solving capacities of the victims of the disaster.     

Trauma demography and clinical epidemiology of motorcycle crash–related head injury in a neurosurgery practice in an African developing country

Objective: Though motor vehicle crashes (MVCs) were the main cause of head trauma from road traffic injuries (RTIs), motorcycle crashes (MCCs) are now a major cause of RTI-related head injury (HI) in many developing countries.

Methods: Using a prospective database of HIs from a neurosurgical practice in a sub-Saharan African developing country, a cross-sectional survey was conducted for the trauma demography and clinical epidemiology of this MCC-related HI.

Results: Motorcycle crashes accounted for 57% (473/833) of all RTI-related HIs in this registry. The victims, with a mean age of 33.1 years (SD = 18.3), consisted mainly of males (83.1%), those of low socioeconomic status (>90%), and those aged between 20 and 40 years old (56%). MCCs involved only riders in 114 cases (114/473, 32.1%), of which 69% were motorcycle–motorcycle crashes. The HI was moderate–severe in 50.8%; clinical symptomatology of significant HI included loss of consciousness (92%), anisocoria (35%), Abbreviated Injury Scale head (AIS–head) score > 3 (28%), and CT-Rotterdam score > 3 (30%). Extracranial systemic injury involved the limbs most frequently, with an Injury Severity Score (ISS) >25 in 49%. The fatality rate was 24%.

MCC-related HI among pedestrian victims involved more vulnerable age groups (the young and elderly) but have lower mean ISS compared to motorcycle passengers (mean ISS = 23.5 [11.6] vs. 27.4 [13.0]; 95% confidence interval [CI], 1.27–6.49; P = .004). In addition, compared to a contemporary cohort of MVC-related HIs in our registry, MCC victims were older (mean age 34.8 years [18.0] vs. 30.8 [18.4]; P = .002); had higher proportions of certain extracranial trauma like long bone fractures (71 vs. 29%; P = .02); and suffered fewer surgical brain lesions (25.5 vs. 17.2%; P = .004).

Conclusions: Motorcycle crashes are now a significant threat to the heads, limbs, and lives of vulnerable road users in developing countries.     

The effect of recycling price uncertainty on municipal waste management choices

This paper analyzes the effect of price uncertainty and irreversible investment on the decision of municipalities to switch from landfill waste disposal to recycling by developing a model to predict recycling adoption behavior and applying it to empirical data. It is shown that uncertainty regarding the price of recycled materials may induce a risk neutral municipality to prefer landfill disposal, even when recycling is less expensive. A model is developed to describe the switching process and estimate its parameters using empirical data from 79 municipalities in Israel. The model is then used to predict municipalities' recycling adoption decisions under various assumptions regarding price uncertainty. The results support the hypothesis that price uncertainty is a major obstacle for recycling. Finally, several options for price stabilization are sketched and it is argued that these policies may be effective in establishing viable recycling markets.     

The Steubenville Comprehensive Air Monitoring Program (SCAMP): Overview and Statistical Considerations

Abstract

Average concentrations of particulate matter with an aerodynamic diameter less than or equal to 2.5 μm (PM_2.5) in Steubenville, OH, have decreased by more than 10 μg/m³ since the landmark Harvard Six Cities Study¹ associated the city’s elevated PM_2.5 concentrations with adverse health effects in the 1980s. Given the promulgation of a new National Ambient Air Quality Standard (NAAQS) for PM_2.5 in 1997, a current assessment of PM_2.5 in the Steubenville region is warranted. The Steubenville Comprehensive Air Monitoring Program (SCAMP) was conducted from 2000 through 2002 to provide such an assessment. The program included both an outdoor ambient air monitoring component and an indoor and personal air sampling component. This paper, which is the first in a series of four that will present results from the outdoor portion of SCAMP, provides an overview of the outdoor ambient air monitoring program and addresses statistical issues, most notably autocorrelation, that have been overlooked by many PM_2.5 data analyses. The average PM_2.5 concentration measured in Steubenville during SCAMP (18.4 μg/m³) was 3.4g/m³ above the annual PM_2.5 NAAQS. On average, sulfate and organic material accounted for ～31% and 25%, respectively, of the total PM_2.5 mass. Local sources contributed an estimated 4.6 μg/m³ to Steubenville’s mean PM_2.5 concentration. PM_2.5 and each of its major ionic components were significantly correlated in space across all pairs of monitoring sites in the region, suggesting the influence of meteorology and long-range transport on regional PM_2.5 concentrations. Statistically significant autocorrelation was observed among time series of PM_2.5 and component data collected at daily and 1-in-4-day frequencies during SCAMP. Results of spatial analyses that accounted for autocorrelation were generally consistent with findings from previous studies that did not consider autocorrelation; however, these analyses also indicated that failure to account for autocorrelation can lead to incorrect conclusions about statistical significance.     

Interference with xenobiotic metabolic activity by the commonly used vehicle solvents dimethylsulfoxide and methanol in zebrafish (Danio rerio) larvae but not Daphnia magna

Organic solvents, such as dimethylsulfoxide (DMSO) and methanol are widely used as vehicles to solubilise lipophilic test compounds in toxicity testing. However, the effects of such solvents upon innate detoxification processes in aquatic organisms are poorly understood. This study assessed the effect of solvent exposure upon cytochrome P450 (CYP)-mediated xenobiotic metabolism in Daphnia magna and zebrafish larvae (4 d post fertilisation). Adult D. magna were demonstrated to have a low, but detectable, metabolism of ethoxyresorufin in vivo and this activity was not modulated by pre-exposure to DMSO or methanol (24 h, up to 0.1% and 0.05% v/v, respectively). In contrast, the metabolism of ethoxyresorufin in zebrafish larvae was significantly reduced by both solvents (0.1% and 0.05% v/v, respectively) after 24 h of exposure. In zebrafish, these observed decreases in activity towards ethoxyresorufin were accompanied by decreased expression of a variety of genes coding for drug metabolising enzymes (corresponding to CYP1, CYP2, CYP3 and UDP-glucuronyl transferase [UGT] family enzymes), measured by quantitative PCR. Reduction of gene expression and CYP1 enzyme activities by methanol (0.05% v/v) in zebrafish larvae was partially reversed by co-exposure with Aroclor 1254 (100 μg L⁻¹). Overall this study suggests that relatively low concentrations of organic solvents can impact upon the biotransformation of certain xenobiotics in zebrafish larvae, and that this warrants consideration when assessing compounds for metabolism and toxicity in this species.