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Background: In areas where cattle graze outdoors, the environmental availability of trace elements is of utmost importance for an adequate intake. Cattle hair trace elements can be used as exposure biomarkers to assess animal intake and help ensure good nutrition and animal welfare. The aim of this study was to evaluate the environmental exposure to trace elements in cattle grazing outdoors in a volcanic region (São Miguel Island, Azores) and assess the corresponding bioaccumulation factors., Methods: Twenty-nine samples of pasture topsoil were collected in two areas of São Miguel with different geological characteristics: Picos fissure system (basaltic area) and Povoação volcano (trachytic area). Hair from fifty-four animals (calves and dairy cows) was collected in two grazing sites: Ponta Delgada (Picos fissure system) and Povoação (Povoação volcano). All samples were analysed by inductively coupled plasma mass spectrometry (ICP-MS) after digestion in aqua regia., Results: Basaltic soils of the Picos fissure system had significantly higher concentrations of most trace elements, except Mo, when compared with the trachytic soils of Povoação volcano. Hair of calves from Povoação showed higher concentrations of most essential trace elements, except Mg, Cu, and Zn, than hair from calves of Ponta Delgada (considered in this study as a control group since they are raised in a barn). On the other hand, hair from dairy cows grazing in Ponta Delgada showed higher concentrations of most essential trace elements, except Mg, As, and Mo, when compared with hair of cows grazing in Povoação., Conclusions: Cattle hair trace elements are suitable biomarkers for the assessment of the environmental exposure to trace elements in volcanic soils. The results from dairy cows support the uneven distribution of essential trace elements (and their bioavailability) in the different soils of São Miguel, reinforcing the need to graze animals outdoors from an early age. Such practice (grazing cattle outdoors) provides another means of accessing essential trace elements that complemented with feed can reduce the natural depletion of these essential elements in the body due to reproductive phenomena and milk production., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier GmbH. All rights reserved.)

Context: Androgen insensitivity syndrome (AIS) is the most common cause of disorders of sex development in 46,XY individuals. It is an X-linked condition usually caused by pathogenic allelic variants in the androgen receptor (AR) gene. The phenotype depends on the AR variant, ranging from severe undervirilization (complete AIS) to several degrees of external genitalia undervirilization. Although 90% of those with complete AIS will have AR mutations, this will only be true for 40% of those with partial AIS (PAIS)., Objective: To identify the genetic etiology of AIS in a large multigenerational family with the PAIS phenotype., Participants: Nine affected individuals with clinical and laboratory findings consistent with PAIS and a normal exonic AR sequencing., Settings: Endocrine clinic and genetic institute from two academic referral centers., Design: Analysis of whole exons of the AR gene, including splicing regions, was performed, followed by sequencing of the 5'untranslated region (UTR) of the AR gene. Detailed phenotyping was performed at the initial diagnosis and long-term follow-up, and circulating levels of steroid gonadal hormones were measured in all affected individuals. AR expression was measured using RT-PCR and cultured fibroblasts., Results: All 46,XY family members with PAIS had inherited, in hemizygosity, a complex defect (∼1100 bp) in the 5'UTR region of the AR surrounded by a duplicated 18-bp sequence (target site duplication). This sequence is 99.7% similar to an active, long, interspersed element present on the X chromosome (AC002980; Xq22.2), which was inserted in the 5'UTR of the AR gene, severely reducing AR expression and leading to PAIS., Conclusion: The molecular diagnosis of PAIS remains challenging. The genomic effect of retrotransposon mobilization should be considered a possible molecular cause of AIS and other AR diseases., (Copyright © 2019 Endocrine Society.)

Fluoride is often found in elevated concentrations in volcanic areas due to the release of magmatic fluorine as hydrogen fluorine through volcanic degassing. The exposure to high levels of fluoride can affect the processes of bone formation and resorption causing skeletal fluorosis, a pathology that can easily be mistaken for other skeletal diseases. In this study, we aimed to determine if fluoride concentration in the femoral bone of wild populations of the house mouse (Mus musculus) is a good biomarker of exposure to active volcanic environments naturally enriched in fluoride, allowing their use in biomonitoring programs. The fluoride concentration of the whole femoral bone of 9 mice from Furnas (5 males and 4 females) and 33 mice from Rabo de Peixe (16 males and 17 females) was measured by the potentiometric method with a fluoride ion selective electrode. Fluoride in bones was significantly higher in the mice from Furnas when compared with the mice from Rabo de Peixe (616.5 ± 129.3 μg F/g vs. 253.8 ± 10.5 μg F/g). Accumulation rates were also significantly higher in the mice collected in Furnas when compared with Rabo de Peixe individuals (3.84 ± 0.52 μg F/day vs. 1.22 ± 0.06 μg F/day). The results demonstrate a significant association between exposure to fluoride in the active volcanic environment and fluoride content in bone, revealing that bone fluoride concentration is a suitable biomarker of chronic environmental exposure to fluoride., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Androgen insensitivity syndrome (AIS) is the most common cause of 46,XY disorders of sex development (46,XY DSD). This syndrome is an X-linked inheritance disease and it is caused by mutations in the human androgen receptor (AR) gene. Non-synonymous point AR mutations are frequently described in this disease, including in the complete phenotype. We present a novel synonymous mutation in the human AR gene (c.1530C > T) in four 46,XY patients from two unrelated families associated with complete androgen insensitivity syndrome (CAIS). The analysis of mRNA from testis showed that synonymous AR mutation changed the natural exon 1 donor splice site, with deletion of the last 92 nucleotides of the AR exon 1 leading to a premature stop codon 12 positions ahead resulting in a truncate AR protein. Linkage analyses suggested a probable founder effect for this mutation. In conclusion, we described the first synonymous AR mutation associated with CAIS phenotype, reinforcing the disease-causing role of synonymous mutations., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

Heavy metals are a hazard to marine fauna and human health. In this study we assess stable isotopes and metal content in Prionace glauca and Isurus oxyrinchus and analyse these results within and among other species and across regions and geographical areas. Also, we evaluate their suitability, together with Raja clavata and Galeorhinus galeus, as Mid-Atlantic bioindicators. Prionace glauca and I. oxyrinchus shared the same trophic level in a pelagic food web and did not present significant differences between genders or metals, except for As. Arsenic and Hg accumulated while Cd and Pb were not detected. One I. oxyrinchus presented Hg values above regulatory limits. A high Hg exposure was associated with I. oxyrinchus since its maximum weekly intake was exceeded. Elasmobranchs can be used as metal sentinels, each presenting different key features which defines a good marine bioindicator, allowing long-term monitoring at different temporal and spatial scales., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

The goal of this study was to assess stable isotopes profiles, metals concentration and PCBs in Raja clavata muscle and liver, according to sex and size, and to elucidate its suitability as a Mid-Atlantic biomonitor. The results reflected bioaccumulation and suggested biomagnification processes for As and Hg in muscle tissue. Cd, Cu and Zn were detected in high amounts in liver, Cr, Mn and Rb were relatively stable and low, Pb was not detected and Sr was present in muscle at high levels, decreasing with length. Hg and Se were strongly correlated, suggesting a mitigation role. Both tissues presented low concentrations of PCBs, especially the dioxin-like congeners, although always higher in liver and not correlated with size. None of these contaminants exceed EU legislated limits. However, they need to be monitored given study area's location, volcanic nature and the expected increase of anthropogenic activity related to future prospective mining activities and the establishment of the Transatlantic Trade and Investment Partnership (TTIP) between Europe and the USA., (Copyright © 2016 Elsevier B.V. All rights reserved.)

The natural enrichment of water with fluoride is related to natural sources such as volcanic activity, with it being documented that fluorosis, an endemic and widespread disease in volcanic areas, is associated to the ingestion of high levels of fluoride through water. Thus, in this study, we aimed to define the fluoride concentration in drinking waters of volcanic origin and compare the sensitivity of urine and nail clippings as biomarkers for fluoride exposure in adults and children. Samples of drinking water from four villages in São Miguel Island (Azores) were used and the fluoride concentration was determined, as well the fluoride content in urine and toenails clippings from 66 children and 63 adults from these villages. A validated diet questionnaire, assessing sources of fluoride, was recorded for each participant. The fluoride determination in urine and nail clipping samples was made using a fluoride-specific electrode. A positive correlation was found between the fluoride daily intake and fluoride content in children urine (rs = 0.475; p < 0.001) and in their nail clippings (rs = 0.475; p < 0.001), while in adult women, the fluoride daily intake correlated positively with fluoride content nail clippings (rs = 0.495, p < 0.001). This reveals that nail clippings are more reliable as biomarkers of chronic exposure to fluoride than urine for populations of different ages (children vs. adults). Furthermore, nail clippings are more suitable than urine fluoride levels to assess long term exposure to fluoride in areas where the exposure to fluoride in drinking water is considered within, or slightly above, the recommended legal values., (Copyright © 2016 Elsevier Ltd. All rights reserved.)