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Abstract: The Morrón de Mateo bentonite deposit is being studied as a natural analogue of the thermal and geochemical effects on a bentonite barrier in a deep geological repository of high level radioactive wastes. This bentonite deposit and its host rocks were intruded by a rhyodacitic volcanic dome that induced a hydrothermal metasomatic process affecting the biocalcarenite beds close to the dome. In this work, the mineralogical and chemical features of the clay minerals of the hydrothermally altered pyroclastic (white tuffs) and epiclastic rocks (mass flow), located in the NE sector of the Morrón de Mateo deposit are described. White tuffs have a high content of phyllosilicates, mainly composed of dioctahedral smectites, while mass flow have a higher proportion of inherited minerals, the neoformed phyllosilicates are dioctahedral smectites and an interlayer chlorite/smectite mineral of corrensite type. The chemical composition of smectites reflects the different nature of the parent rocks, in such a way that smectites from white tuffs have a quite homogeneous chemical composition and their structural formulae correspond to montmorillonite type, while smectites from mass flow show more chemical variability, higher Fe and Mg contents and a mean structural formulae corresponding to Fe–Mg-rich beidellite and/or to an intermediate smectite member between beidellite and saponite. In addition, chemical composition and textural features of corrensite-like clay minerals in relation to Fe–Mg-rich smectites in the samples have also been studied, suggesting that the former seems to be formed from Fe–Mg-rich smectites. The presence of corrensite in the epiclastic rocks suggests that in the Morrón de Mateo area a hydrothermal alteration process occurred after bentonite formation, which transformed Fe–Mg-rich smectites into corrensite. This transformation was probably favoured by the intrusion of the Morrón de Mateo volcanic dome, which produced a temperature increase in the geological media and a supply of Fe–Mg-rich solutions. These physicochemical conditions were also responsible for the metasomatic transformations observed in the biocalcarenite beds located on the top of the bentonite deposit. All these data suggest that the Morrón de Mateo natural system could be a good natural analogue of both thermal and chemical effects on a bentonite barrier related to the radioactive decay of fission products and the interaction between the corrosion products of steel over-packs and the bentonite. These circumstances would favour the transformation of the candidate Al-rich smectites into Fe–Mg-rich smectites and corrensite, as steps prior to formation of chlorite. In this case, all the physicochemical and mechanical properties of Al-rich smectites would disappear and the clayey barrier would fail. [Copyright &y& Elsevier]

Abstract: The thermal effect induced by the Morrón de Mateo volcanic dome (Cabo de Gata volcanic region, Spain) on the adjacent bentonitised tuffaceous beds has been studied as a natural analogue of the thermal behaviour of the bentonite-engineered barrier of a geological radwaste repository. These bentonites consist mainly of Fe-rich smectites and were formed in equilibrium with seawater at temperatures between 75 and 95°C, according to the δ 18O and δD values. In contrast, bentonites from other localities in the region consist mainly of Al-smectites, formed in equilibrium with meteoric water below 25°C. This investigation is focussed on the detection of the chemical differences between smectites from proximal and distal zones to the dome, as well as to test whether the temperatures calculated based on the O and H isotopic values correspond to their formation or transformation. The initial hypothesis was that the chosen smectites could be formed under marine conditions, being later transformed and isotopically re-equilibrated as a result of the intrusion. To check this hypothesis, a detailed mineralogical, chemical, geochemical and isotopic study has been performed on the smectitised tuffaceous materials and the overlaying biocalcarenites outcropping near and far from the dome. The results show that distal smectites are dioctahedral Al-smectites, similar to those from other deposits in the region, while proximal smectites are Fe- and Mg-rich smectites, showing two evolutionary trends on a Fe–Mg–Al ternary diagram. Similar features are observed when their structural formulae are plotted on the muscovite–celadonite–pyrophylite diagram. Thus, they plot in the smectite domain with interlayer charge less than 1, which is mainly due to octahedral substitution for distal smectites, while for proximal ones it is caused by both octahedral and tetrahedral substitutions. In this ternary diagram, the domains of both proximal and distal smectites are partially overlapped. The coexistence of di- and trioctahedral smectites was only detected in one proximal sample. Further, proximal biocalcarenites are enriched in Fe-rich dolomite in relation to the distal ones. The 87Sr/86Sr and δ 13C values in carbonates and δD in smectites indicate equilibrium with seawater. In contrast, δ 18O values of carbonates and smectites indicate that they were transformed and re-equilibrated between 40 and 90°C, and between 55 and 66°C, respectively, independently of their location with respect to the dome. These data suggest that the transformation of calcite into Mg–Fe-carbonates and the occurrence of Fe- and Mg-rich smectites near to the dome resulted from a chemically induced process at similar temperatures. The compositional differences among samples suggests that Fe, Mg and minor Mn were supplied by a contaminant plume originated from the dome, migrating through the sediments and becoming more diluted away from the source. The absence of a well-defined thermal gradient in the system could be due to the small size, semi-closed and shallow character of the basin, as well as to its high underlying volcanic activity. Finally, the results are discussed in terms of analogue processes that can be expected in the bentonite barrier of a radwaste geological repository. [Copyright &y& Elsevier]

The mutational spectrum of many genes and their contribution to the global prevalence of hereditary hearing loss is still widely unknown. In this study, we have performed the mutational screening of EYA4 gene by DHLPC and NGS in a large cohort of 531 unrelated Spanish probands and one Australian family with autosomal dominant non-syndromic hearing loss (ADNSHL). In total, 9 novel EYA4 variants have been identified, 3 in the EYA4 variable region (c.160G > T; p.Glu54*, c.781del; p.Thr261Argfs*34 and c.1078C > A; p.Pro360Thr) and 6 in the EYA-HR domain (c.1107G > T; p.Glu369Asp, c.1122G > T; p.Trp374Cys, c.1281G > A; p.Glu427Glu, c.1282-1G > A, c.1601C > G; p.S534* and an heterozygous copy number loss encompassing exons 15 to 17). The contribution of EYA4 mutations to ADNSHL in Spain is, therefore, very limited (~1.5%, 8/531). The pathophysiology of some of these novel variants has been explored. Transient expression of the c-myc-tagged EYA4 mutants in mammalian COS7 cells revealed absence of expression of the p.S534* mutant, consistent with a model of haploinsufficiency reported for all previously described EYA4 truncating mutations. However, normal expression pattern and translocation to the nucleus were observed for the p.Glu369Asp mutant in presence of SIX1. Complementary in silico analysis suggested that c.1107G > T (p.Glu369Asp), c.1281G > A (p.Glu427Glu) and c.1282-1G > A variants alter normal splicing. Minigene assays in NIH3T3 cells further confirmed that all 3 variants caused exon skipping resulting in frameshifts that lead to premature stop codons. Our study reports the first likely pathogenic synonymous variant linked to DFNA10 and provide further evidence for haploinsufficiency as the common underlying disease-causing mechanism for DFNA10-related hearing loss.

The Almadén area in Spain has a long history of mercury mining with prolonged human-induced activities that are related to mineral extraction and metallurgical processes before the closure of the mines and a more recent post period dominated by projects that reclaim the mine dumps and tailings and recuperating the entire mining area. Furthermore, socio-economic alternatives such as crop cultivation, livestock breeding and tourism are increasing in the area. Up till now, only scattered information on these activities is available from specific studies. However, improved acquisition systems using satellite borne data in the last decades opens up new possibilities to periodically study an area of interest. Therefore, comparing the influence of these activities on the environment and monitoring their impact on the ecosystem vastly improves decision making for the public policy makers to implement appropriate land management measures and control environmental degradation. The objective of this work is to monitor environmental changes affected by human-induced activities within the Almadén area occurring before, during and after the mine closure over a period of nearly three decades. To achieve this, data from numerous sources at different spatial scales and time periods are implemented into a methodology based on advanced remote sensing techniques. This includes field spectroradiometry measurements, laboratory analyses and satellite borne data of different surface covers to detect land cover and use changes throughout the mining area. Finally, monitoring results show that the distribution of areas affected by mercury mining is rapidly diminishing since activities ceased and that rehabilitated mining areas form a new landscape. This refers to mine tailings that have been sealed and revegetated as well as an open pit mine that has been converted to an "artificial" lake surface. Implementing a methodology based on remote sensing techniques that integrate data from several sources at different scales greatly improves the regional characterization and monitoring of an area dominated by mercury mining activities., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Mycobacterium bovis isolates from the Iberian Peninsula are dominated by strains with spoligotype patterns deleted for spacer 21. Whole-genome sequencing of three Spanish strains with spacer 21 missing in their spoligotype pattern revealed a series of SNPs and subsequent screening of a selection of these SNPs identified one in gene guaA that is specific to these strains. This group of strains from the Iberian Peninsula missing spoligotype spacer 21 represents a new clonal complex of M. bovis, defined by the SNP profile with a distinct spoligotype signature. We have named this clonal complex European 2 (Eu2) and found that it was present at low frequency in both France and Italy and absent from the British Isles., (Copyright © 2011 Elsevier B.V. All rights reserved.)

Mutations in the 12S rRNA gene of the mitochondrial genome are responsible for maternally inherited non-syndromic hearing loss (NSHL), and for increased susceptibility to the ototoxicity of aminoglycoside antibiotics. Among these mutations, 1555A-->G is the most prevalent in all populations tested so far. Recently, the 1494C-->T mutation was reported in two large Chinese pedigrees with maternally inherited NSHL. In this study, sequencing of the 12S rRNA gene in a Spanish family with maternally inherited NSHL showed the presence of the 1494C-->T mutation. An additional screening of 1339 unrelated Spanish patients with NSHL allowed the authors to find two other families with the mutation. Audiological data were obtained from 17 confirmed 1494C-->T carriers, which showed that the hearing loss was sensorineural, bilateral and symmetrical, with a remarkable variability in age of onset and severity. Three carriers were asymptomatic. Three affected carriers had a history of treatment with aminoglycoside antibiotics. The mitochondrial genome of one affected person from each of these three families was entirely sequenced, and it was established that they belong to different mitochondrial haplogroups (H, U5b, U6a). The study results further support the pathogenic role of 1494C-->T on hearing, and show that this mutation can be found in different Caucasian mitochondrial DNA backgrounds.

Objective: To determine the frequency of the A1555G mutation in the mitochondrial genome among Spanish patients with aminoglycoside-induced ototoxicity., Patients and Methods: We screened 25 unrelated cases, totalling 39 individuals with cochlear or vestibular damage due to aminoglycoside-induced ototoxicity. This group was made up of 18 subjects from 4 unrelated families with a history of aminoglycoside ototoxicity in more than one relative, 8 subjects from 8 families that also had other relatives with hearing loss in absence of aminoglycoside exposure, and 13 sporadic cases. Among the 13 sporadic cases, there were 3 patients with vestibular involvement. Detection of the A1555G mutation was seen by mean of techniques for molecular diagnosis., Results: The A1555G mutation was identified in all of the individuals from 4 families with aminoglycoside-induced cochlear damage and in 6 of 8 individuals with familial hearing loss. None of the sporadic cases carried the mutation., Conclusions: A high proportion of patients with cochlear damage due to aminoglycoside ototoxicity and having a familial history of hearing loss, related or not to aminoglycoside exposure, harbor the A1555G mutation.

Introduction: Sensorineural deafness is a very common disorder in humans, which affects approximately 10% of the population. Genetic causes are suggested to be responsible for more than half of the cases. The A1555G mutation in the mitochondrial 12S rRNA gene and the 35delG mutation in the GJB2 gene are the most common mutations for sensorineural deafness in the Spanish population., Methods: A genetic study was carried out in order to determine the frequency of the mutations A1555G in the mitochondrial DNA and 35delG in the connexin-26 gene in 21 patients from 21 non-consanguineous unrelated families affected by late-onset bilateral non-syndromic sensorineural hearing loss from Cantabria., Results: The A1555G mutation was found in 6 patients. Five of these 6 patients had been treated with aminoglycosides. In all of them the auditory impairment affected mainly the high frequencies. The 35delG mutation was not found in any of the patients., Conclusions: The A1555G mutation in the mitochondrial DNA has been found to be the most common amongst the Cantabrian population. The A1555G mutation should be suspected in those members of families affected by sensorineural hearing impairment with a maternal inheritance pattern and ototoxicity from treatment with aminoglycoside antibiotics. The 35delG mutation in the GJB2 gene does not seem to be a major cause of deafness in families with late-onset non-syndromic sensorineural hearing loss in our area.

In order to study the recent rock-water interaction processes in the E1 Berrocal site, a sequential leaching method has been applied to granitic fracture fillings to obtain the U isotopic distribution in the mineral phases of these samples. Based on the mineralogical composition of these materials, six dissolution steps have been chosen to extract U as exchangeable cation, from carbonates, amorphous Fe-oxyhydroxides, labile resistates and highly insoluble resistates. In this way, the processes involved in the rock-water interaction phenomena, mainly dissolution, precipitation, coprecipitation and adsorption can be distinguished and even approximately dated.

The bronchopulmonary helminths of 66 chamois (49 males and 17 females), captured in various parts of the Cantabrian mountain range (N. W. Spain) in the autumn of 1983, and in the summer and the autumn of 1984, were studied. The animals were adult and aged between 2 and 16 years. The lungs, trachea and faeces from the last section of the intestine were taken from each animal individually. The trachea and pulmonary larval nodules were dissected. First stage larvae (L-I) were obtained from finely cut up pulmonary tissue and from faeces by migration. The number of larvae I per gram varied between 0.08 and 2,662 (mean = 151.5 +/- 59.5 s. e.) in the faecal samples, and between 0.03 and 1,733 (mean = 65.2 +/- 32.4 s. e.) in the pulmonary ones. There was a low correlation between the two sets of data. When taking into account age and sex, no statistically significant differences were observed in relation to the number of larvae/gram found either in faeces or in pulmonary tissue, while there were statistically significant differences when considering the periods of sampling and reserve of origin, in relation to the larvae found in faeces and lungs, respectively. Infections by three nematodes (Neostrongylus, Muellerius and Protostrongylus) were more common than those produced by two or one, in the lungs as well as in the faeces. The most common genus was Neostrongylus, followed by Muellerius, and no Cystocaulus or Dictyocaulus larvae were found.