Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR

A prenatal diagnosis of Pelizaeus-Merzbacher disease (PMD) resulting from proteolipid protein gene (PLP) duplication was performed by a quantitative fluorescent multiplex PCR method. PLP gene copy number was determined in the proband, the pregnant mother, the male fetus and two aunts. Small amounts of genomic DNA extracted from peripheral blood and from chorionic villi were used. The fetus, in common with the proband, was identified as PMD-affected being a carrier of the PLP gene duplication, inherited from the mother, while the two aunts were non-carriers. The data obtained were confirmed by segregation analysis of a PLP-associated dinucleotide-repeat polymorphism amplified by the same multiplex PCR. Copyright © 2001 John Wiley & Sons, Ltd.     

Primary and secondary organic winter aerosols in Mediterranean cities under different mixing layer conditions (Barcelona and Granada)

Environmental Science and Pollution Research - PM10 was collected during an EMEP winter campaign of 2017–2018 in two urban background sites in Barcelona (BCN) and Granada (GRA), two...     

A novel survey of raptor collections in Europe and their potential to provide samples for pan-European contaminant monitoring

Environmental Science and Pollution Research - This paper provides a novel survey of current collections of frozen raptor carcasses and tissue samples in natural history museums (NHMs),...     

Fine-scale distribution of juvenile Atlantic and Mediterranean loggerhead turtles (Caretta caretta) in the Mediterranean Sea

Loggerhead turtles nesting in the Mediterranean Sea exhibit remarkable genetic structuring. This paper tests the hypothesis that young loggerhead turtles from different rookeries do not distribute homogeneously among the major Mediterranean foraging grounds, due to a complex pattern of surface currents. We extracted long fragments of mitochondrial DNA from 275 stranded or bycaught juvenile turtles from six foraging grounds (Catalano-Balearic Sea, Algerian basin, Tyrrhenian Sea, Adriatic Sea, northern Ionian Sea and southern Levantine Sea). We used a Bayesian mixed-stock analysis to estimate the contributions from rookeries in the Mediterranean, the North-west Atlantic and Cape Verde to the studied foraging grounds. Differences were found in the relative contribution of juvenile turtles of Atlantic and Mediterranean origin to each foraging ground. A decreasing proportion of Atlantic juveniles was detected along the main surface current entering the Mediterranean, with a high prevalence of turtles from eastern Florida in the Algerian basin and lower numbers elsewhere. In regard to the turtles of Mediterranean origin, juveniles from Libya prevailed in central and western Mediterranean foraging grounds other than the Algerian basin. Conversely, the Adriatic Sea was characterised by a large presence of individuals from western Greece, while the southern Levantine Sea was inhabited by a heterogeneous mix of turtles from the eastern Mediterranean rookeries (Turkey, Lebanon and Israel). Overall, the distribution of juveniles may be related to surface circulation patterns in the Mediterranean and suggests that fisheries might have differential effects on each population depending on the overlap degree between foraging and fishing grounds.     

Prenatal diagnosis of 49,XXXYY

The first prenatally diagnosed case of 49,XXXYY is reported. The pathological findings of the fetus included bilateral clinodactyly, decreased carrying angles (OO), and hypertelorism, slightly low set ears and mildly prominent forehead. A minimum of two independent non- disjunctional events are postulated for this polysomy to arise.     

Work environment and the well-being of clerical and VDT workers

This paper explores the relationships between extent of video display terminal usage, perceptions of the physical work environment, task characteristics, and workers' health and well-being among a group of 1032 female office clerical workers. Data are drawn from responses to a 30-minute questionnaire administered at four employment sites during 1981 and 1982. All-day terminal users reported significantly higher levels of job and physical environment stressors than part-day VDT users, typists and non machine-interactive clerical workers. Reports of musculo-skeletal strain and dissatisfaction were also highest among all day terminal users. Part-day VDT users, typists and clerks all reported relatively similar levels of job and physical working conditions, health symptoms and job satisfaction. No significant differences between any of the groups were observed for gastrointestinal, respiratory, psychological and other non-specific health complaints. Typists and clerical workers who also held supervisory positions reported fewer stressors and greater job satisfaction than workers with no supervisory tasks; however there were no such differences between supervisors and non-supervisors engaged in all-day VDT work. Implications of these findings for further research and for job redesign strategies to alleviate the potentially stressful aspects of office automation are discussed.     

Socio-environmental conflict in the construction of a power plant in Spain's Basque Country: strategies,expertise and certifications

Social and anthropological studies show a growing number of conflicts surrounding energy projects, as governments and companies insist on their implementation despite the concerns of local actors about their perceived socio-environmental risks. In this context, the purpose of this paper is to analyse the politicisation of expertise and certifications in a conflict over the construction of a combined cycle power plant by linking strategic assumptions from two particular sociological approaches. The first approach is based on the study of frame alignment in social movement organisations and the second on the translating interests in actor–network theory. These linked premises are examined in the conflict arising from the construction of a combined cycle natural gas plant in Boroa, in the Basque Country of Spain. This case study brings to light interesting findings on the strategies of the different agencies, certifications, politicisation of expertise and the increasing hostility in local conflicts.     

Molecular phylogeography of two Italian sibling species of Calobius (Coleoptera, Hydraenidae, Ochthebiinae) inhabiting Mediterranean marine rock-pools

Marine rock-pools, commonly found along the Mediterranean coasts, are isolated patches of habitat characterised by large spatial and temporal variations. The phylogeography of Calobius quadricollis and C. urbanelliae, two sibling species of moss beetles (Coleoptera, Hydraenidae) inhabiting Italian temporary marine rock-pool ecosystems, were studied using mitochondrial cytochrome c oxidase subunit I (COI). Our data suggest a strong association between the scored genetic variability and the geographical distribution of populations sampled for both species. These analyses provided evidences of episodic species range expansion and fragmentation, recurrent “flush and crash” and bottleneck episodes probably occurring during the Glacial Cycles. The observed phylogeographical pattern is probably related to the historical and biogeographical processes of Mediterranean areas, as well as both to the ephemeral habitat tipology and limited dispersal ability of these beetles.     

Occurrence of Norovirus,Rotavirus, Hepatitis a Virus,and Enterovirus in Berries in Argentina

Food and Environmental Virology - Berries have been implicated as the probable vehicle of infection in multiple outbreaks of norovirus and hepatitis A virus (HAV). These foods often receive minimal...