Analysis of per- and polyfluoroalkyl substances in Houston Ship Channel and Galveston Bay following a large-scale industrial fire using ion-mobility-spectrometry-mass spectrometry

Per- and polyfluoroalkyl substances (PFAS) are persistent organic pollutants of concern because of their ubiquitous presence in surface and ground water; analytical methods that can be used for rapid comprehensive exposure assessment and fingerprinting of PFAS are needed. Following the fires at the Intercontinental Terminals Company (ITC) in Deer Park, TX in 2019, large quantities of PFAS-containing firefighting foams were deployed. The release of these substances into the Houston Ship Channel/Galveston Bay (HSC/GB) prompted concerns over the extent and level of PFAS contamination. A targeted liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based study of temporal and spatial patterns of PFAS associated with this incident revealed presence of 7 species; their levels gradually decreased over a 6-month period. Because the targeted LC-MS/MS analysis was focused on about 30 PFAS molecules, it may have missed other PFAS compounds present in firefighting foams. Therefore, we utilized untargeted LC-ion mobility spectrometry-mass spectrometry (LC-IMS-MS)-based analytical approach for a more comprehensive characterization of PFAS in these water samples. We analyzed 31 samples from 9 sites in the HSC/GB that were collected over 5 months after the incident. Our data showed that additional 19 PFAS were detected in surface water of HSC/GB, most of them decreased gradually after the incident. PFAS features detected by LC-MS/MS correlated well in abundance with LC-IMS-MS data; however, LC-IMS-MS identified a number of additional PFAS, many known to be components of firefighting foams. These findings therefore illustrate that untargeted LC-IMS-MS improved our understanding of PFAS presence in complex environmental samples.     

First-trimester diagnosis of osteogenesis imperfecta associated with encephalocele by conventional and three-dimensional ultrasound

To illustrate the three-dimensional sonographic features of a rare genetic disorder, we report on prenatal diagnosis of osteogenesis imperfecta congenita associated with encephalocele at 13 weeks of gestation, using conventional and three-dimensional ultrasound. Because the parents were first-degree cousins and on the basis of the family history, a recessive autosomal inheritance was suspected. Of seven previous pregnancies, five were unaffected and two had been terminated in the second trimester owing to a similar abnormality (one affected boy and one affected girl). In the case we present, the diagnosis was made on the basis of two-dimensional ultrasound performed by physicians aware of the history; the quality of three-dimensional ultrasound imaging suggests that this technique might have contributed toward establishing a precise diagnosis in the absence of a positive family history. Besides, the global view provided by three-dimensional surface-rendering images made the parents more confident of the accuracy of the diagnosis. Although osteogenesis imperfecta congenita is generally considered as autosomal dominant, the case we report suggests that it may be inherited in a recessive autosomal fashion at least when associated with encephalocele. Three-dimensional ultrasound confirmed the conventional two-dimensional examination and was helpful in convincing the parents of the accuracy of the diagnosis. Copyright © 2003 John Wiley & Sons, Ltd.     

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owing to the large number of nuclear genes involved in the respiratory chain assembly, maintenance and functioning, the identification of the disease causing gene in a given family remains challenging. Here, we report on PD of RCD by direct screening of NDUFV1, SDH-Fp, SCO1 and SURF1 mutations in five unrelated families with complex I, II and IV deficiency, respectively. The identification of the disease-causing gene in a given family with RCD is a major issue to provide both adequate genetic counselling and early, reliable PD. Copyright © 2001 John Wiley & Sons, Ltd.     

Probabilistic modeling of young children's overall lead exposure in France: integrated approach for various exposure media

OBJECTIVES: Emissions of lead into the environment (and thus its environmental concentrations) have decreased in recent years. We sought to estimate the overall lead exposure of children aged 6 months to 6 years (the population group most exposed and most sensitive to lead) in France through the various media (air, food, water, soils, and dust) and the respective contributions of each medium to the total dose. We have focused on the general population, leaving aside specific risk factors such as deteriorated lead paints. METHODS: We used the most recent French intake data for food and water, and a daily ingested quantity selected from the literature for soils and dust. Contamination data came from the first total diet study of contaminant levels in France (2000-2001), from regulatory testing of tap water (2004), a literature review of lead in urban soils, and a pilot study (2005) of lead in dust. Air quality monitoring measurements showed that the contribution of air could now be safely ignored. Weekly exposure doses were estimated with Monte Carlo simulations. RESULTS: Median weekly exposure dose was 7.5 microg/kg bw.week for children aged 6 months to 3 years and 4.7 for those aged from 3-6 years. 95th percentiles were 13.5 and 8.7 microg/kg bw.week. Exposure came mainly from food. The principal uncertainties are associated with quantification limits in food and water, representativeness and traceability of tap water samples, and absence of recent data about urban soil contamination. CONCLUSIONS: These results differ quite notably from earlier estimates and highlight the need, especially for policy-making purposes, to update exposure measurements for this metal.     

Hydrogeochemistry and statistical analysis applied to understand fluoride provenance in the Guarani Aquifer System, Southern Brazil

High fluoride concentrations (up to 11 mg/L) have been reported in the groundwater of the Guarani Aquifer System (Santa Maria Formation) in the central region of the state of Rio Grande do Sul, Southern Brazil. In this area, dental fluorosis is an endemic disease. This paper presents the geochemical data and the combination of statistical analysis (Principal components and cluster analyses) and geochemical modeling to achieve the hydrogeochemistry of the groundwater and discusses the possible fluoride origin. The groundwater from the Santa Maria Formation is comprised of four different geochemical groups. The first group corresponds to a sodium chloride groundwater which evolves to sodium bicarbonate, the second one, both containing fluoride anomalies. The third group is represented by calcium bicarbonate groundwater, and in the fourth, magnesium is the distinctive parameter. The statistical and geochemical analyses supported by isotopic measurements indicated that groundwater may have originated from mixtures of deeper aquifers and the fluoride concentrations could be derived from rock/water interactions (e.g., desorption from clay minerals).