Connectivity, neutral theories and the assessment of species vulnerability to global change in temperate estuaries

One of the main adaptation strategies to global change scenarios, aiming to preserve ecosystem functioning and biodiversity, is to maximise ecosystem resilience. The resilience of a species metapopulation can be improved by facilitating connectivity between local populations, which will prevent demographic stochasticity and inbreeding. The objective of this investigation is to estimate the degree of connectivity among estuarine species along the north-eastern Iberian coast, in order to assess community vulnerability to global change scenarios. To address this objective, two connectivity proxy types have been used based upon genetic and ecological drift processes: 1) DNA markers for the bivalve cockle (Cerastoderma edule) and seagrass Zostera noltei, and 2) the decrease in the number of species shared between two sites with geographic distance; neutral biodiversity theory predicts that dispersal limitation modulates this decrease, and this has been explored in estuarine plants and macroinvertebrates. Results indicate dispersal limitation for both saltmarsh plants and seagrass beds community and Z. noltei populations; this suggests they are especially vulnerable to expected climate changes on their habitats. In contrast, unstructured spatial pattern found in macroinvertebrate communities and in C. edule genetic populations in the area suggests that estuarine soft-bottom macroinvertebrates with planktonic larval dispersal strategies may have a high resilience capacity to moderate changes within their habitats. Our findings can help environmental managers to prioritise the most vulnerable species and habitats to be restored

Characterization of complex groundwater flows in the environment of singular buildings by combining hydrogeological and non-destructive geophysical (ground-penetrating radar) techniques: Punta Begona Galleries (Getxo, Spain)

[EN] Locating and quantifying groundwater flow in many built-up areas are a priority with regard to its complete restoration. In this work, a hydrogeological survey of the surroundings of the Punta Begona Galleries (Getxo, Bizkaia), built on a coastal cliff, was completed by using ground penetrating radar (GPR) testing. Thus, the preliminary characterization of soils and rocks in accessible areas of the cliff was first improved by hydrogeological information gathered from a single survey borehole, including permeability measurements by low pressure injection tests (LPTs) and continuous water level monitoring. As a complementary method, the non-destructive GPR technique was performed during both dry and wet hydrological periods and in tandem with the injection tests, providing more complete spatial and temporal images of water flows. Specifically, GPR allows mapping of flow paths in soils and assessing the continuity of fractures in rock masses. Altogether, this complementary approach provides greater knowledge of complex underground flow dynamics in built environments, thus making it easier to make decisions for their managementCity Council of Getxo, Grant/Award Number: OTRI2016-0738; University of the Basque CountryUriarte, JA.; Damas Molla, L.; Sagarna, M.; Aranburu, A.; García García, F.; Antiguedad, I.; Morales, T. (2020). Characterization of complex groundwater flows in the environment of singular buildings by combining hydrogeological and non-destructive geophysical (ground-penetrating radar) techniques: Punta Begona Galleries (Getxo, Spain). Hydrological Processes. 34(4):1004-1015. https://doi.org/10.1002/hyp.13635S1004101534

Exploring genetic factors involved in huntington disease age of onset. E2F2 as a new potential modifier gene

Age of onset (AO) of Huntington disease (HD) is mainly determined by the length of the CAG repeat expansion (CAGexp) in exon 1 of the HTT gene. Additional genetic variation has been suggested to contribute to AO, although the mechanism by which it could affect AO is presently unknown. The aim of this study is to explore the contribution of candidate genetic factors to HD AO in order to gain insight into the pathogenic mechanisms underlying this disorder. For that purpose, two AO definitions were used: the earliest age with unequivocal signs of HD (earliest AO or eAO), and the first motor symptoms age (motor AO or mAO). Multiple linear regression analyses were performed between genetic variation within 20 candidate genes and eAO or mAO, using DNA and clinical information of 253 HD patients from REGISTRY project. Gene expression analyses were carried out by RT-qPCR with an independent sample of 35 HD patients from Basque Country Hospitals. We found suggestive association signals between HD eAO and/or mAO and genetic variation within the E2F2, ATF7IP, GRIN2A, GRIN2B, LINC01559, HIP1 and GRIK2 genes. Among them, the most significant was the association between eAO and rs2742976, mapping to the promoter region of E2F2 transcription factor. Furthermore, rs2742976 T allele patient carriers exhibited significantly lower lymphocyte E2F2 gene expression, suggesting a possible implication of E2F2-dependent transcriptional activity in HD pathogenesis. Thus, E2F2 emerges as a new potential HD AO modifier factor

First data of Cretaceous hydrothermalism in the eastern margin of the Basque-Cantabrian basin

In the Eastern margin of the Basque-Cantabrian Basin, fissures filled with sediments crop out in a red Albian-Cenomanian limestone, near the Txoritokieta mount (Errenteria, Gipuzkoa). In this work we study the sedimentology, petrology and tectosedimentary character of fissures and their fills, in order to establish the evolutive sequence of the formation of fractures and the infill of them. It has been inferred the tectonic origin of the fissures, linked to the synsedimentary folding of the host limestone. Moreover, most of the studied sedimentary fissure fills are mineralized, suggesting that fracturing and fluid flow occurred during the deposition of the fissure fillsEn el margen oriental de la Cuenca Vasco-Cantábrica afloran fisuras rellenas de sedimento encajadas en calizas rojas Albiense-Cenomaniense, en las inmediaciones del monte Txoritokieta (Errenteria, Gipuzkoa). El objetivo de este estudio ha sido estudiar las fracturas y sus rellenos desde el punto de vista sedimentológico, petrológico y tectosedimentario, para establecer la secuencia evolutiva de la formación de las fisuras rellenas. Así, se ha inferido el origen tectónico de las fracturas, ligado al plegamiento sinsedimentario de la propia formación que engloba las calizas encajantes. Asimismo, los rellenos de las fracturas, que se encuentran mineralizados en su gran mayoría, sugieren que su formación (fracturación) se localizó cerca de la superficie de sedimentación y la circulación de fluidos mineralizantes ocurrió en momentos próximos al depósito de los relleno

Evidence of paleoecological changes and Mousterian occupations at the Galeria de las Estatuas site, Sierra de Atapuerca, northern Iberian plateau, Spain

Here we present a new site in the Sierra de Atapuerca (Burgos, Spain): Galeria de las Estatuas (GE), which provides new information about Mousterian occupations in the Iberian Plateau. The GE was an ancient entrance to the cave system, which is currently closed and sealed by a stalagmitic crust, below which a detritic sedimentary sequence of more than 2 m is found. This has been divided into five litostratigraphic units with a rich assemblage of faunal and lithic remains of clear Mousterian affinity. Radiocarbon dates provide minimum ages and suggest occupations older than 45 C-14 ka BP. The palynological analysis detected a landscape change to increased tree coverage, which suggests that the sequence recorded a warming episode. The macromammal assemblage is composed of both ungulates (mainly red deer and equids) and carnivores. Taphonomic analysis reveals both anthropic, and to a lesser extent, carnivore activities. The GE was occupied by Neanderthals and also sporadically by carnivores. This new site broadens the information available regarding different human occupations at the Sierra de Atapuerca, which emphasizes the importance of this site-complex for understanding human evolution in Western Europe

Postcranial morphology of the middle Pleistocene humans from Sima de los Huesos, Spain

Current knowledge of the evolution of the postcranial skeleton in the genus Homo is hampered by a geographically and chronologically scattered fossil record. Here we present a complete characterization of the postcranium of the middle Pleistocene paleodeme from the Sima de los Huesos (SH) and its paleobiological implications. The SH hominins show the following: (i) wide bodies, a plesiomorphic char- acter in the genus Homo inherited from their early hominin ancestors; (ii) statures that can be found in modern human middle-latitude pop- ulations that first appeared 1.6–1.5 Mya; and (iii) large femoral heads in some individuals, a trait that first appeared during the middle Pleistocene in Africa and Europe. The intrapopulational size variation in SH shows that the level of dimorphism was similar to modern humans (MH), but the SH hominins were less encephalized than Ne- andertals. SH shares many postcranial anatomical features with Ne- andertals. Although most of these features appear to be either plesiomorphic retentions or are of uncertain phylogenetic polarity, a few represent Neandertal apomorphies. Nevertheless, the full suite of Neandertal-derived features is not yet present in the SH popula- tion. The postcranial evidence is consistent with the hypothesis based on the cranial morphology that the SH hominins are a sister group to the later Neandertals. Comparison of the SH postcranial skeleton to other hominins suggests that the evolution of the postcranium oc- curred in a mosaic mode, both at a general and at a detailed level

Does Arterial Hypertension Influence the Onset of Huntington's Disease?

Huntington's disease (HD) age of onset (AO) is mainly determined by the length of the CAG repeat expansion in the huntingtin gene. The remaining AO variability has been attributed to other little-known factors. A factor that has been associated with other neurodegenerative diseases is arterial hypertension (AHT). The aim of this study is to evaluate the contribution of AHT to the AO of HD. We used data from a cohort of 630 European HD patients with adult onset collected by the REGISTRY project of the European Huntington's Disease Network. Multiple linear regression and ANOVA, controlling for the CAG repeat number of the expanded allele (CAGexp) of each patient, were performed to assess the association between the AHT condition and the AO of the motor symptoms (mAO). The results showed a significant association between AHT and mAO, especially when we only considered the patients diagnosed with AHT prior to manifesting any HD signs (pre-HD AHT). Remarkably, despite the low number of cases, those patients developed motor symptoms 5-8 years later than normotensive patients in the most frequent CAGexp range (40-44). AHT is an age related condition and consequently, the age of the patient at the time of data collection could be a confounder variable. However, given that most pre-HD AHT patients included in our study had started treatment with antihypertensive drugs prior to the onset of HD, and that antihypertensive drugs have been suggested to confer a neuroprotective effect in other neurodegenerative diseases, raises the interest in elucidating the impact of AHT and/or AHT treatment in HD age of onset in further studies. A confirmation of our results in a larger sample set would open the possibility to significantly improve HD management.This study was funded by Basque Government Department of Industry grants (Saiotek PE08UN78 and University-Company Program 09+ UEGV096/C01), by the Basque Government Department of Education (IT634-13) and by the University of the Basque Country UPV/EHU (UFI11/20). No funding bodies had any role in study design, data collection and analysis, decision to publish, or preparation of the manuscript

Does Arterial Hypertension Influence the Onset of Huntington's Disease?

Huntington's disease (HD) age of onset (AO) is mainly determined by the length of the CAG repeat expansion in the huntingtin gene. The remaining AO variability has been attributed to other little-known factors. A factor that has been associated with other neurodegenerative diseases is arterial hypertension (AHT). The aim of this study is to evaluate the contribution of AHT to the AO of HD. We used data from a cohort of 630 European HD patients with adult onset collected by the REGISTRY project of the European Huntington's Disease Network. Multiple linear regression and ANOVA, controlling for the CAG repeat number of the expanded allele (CAGexp) of each patient, were performed to assess the association between the AHT condition and the AO of the motor symptoms (mAO). The results showed a significant association between AHT and mAO, especially when we only considered the patients diagnosed with AHT prior to manifesting any HD signs (pre-HD AHT). Remarkably, despite the low number of cases, those patients developed motor symptoms 5-8 years later than normotensive patients in the most frequent CAGexp range (40-44). AHT is an age related condition and consequently, the age of the patient at the time of data collection could be a confounder variable. However, given that most pre-HD AHT patients included in our study had started treatment with antihypertensive drugs prior to the onset of HD, and that antihypertensive drugs have been suggested to confer a neuroprotective effect in other neurodegenerative diseases, raises the interest in elucidating the impact of AHT and/or AHT treatment in HD age of onset in further studies. A confirmation of our results in a larger sample set would open the possibility to significantly improve HD management.This study was funded by Basque Government Department of Industry grants (Saiotek PE08UN78 and University-Company Program 09+ UEGV096/C01), by the Basque Government Department of Education (IT634-13) and by the University of the Basque Country UPV/EHU (UFI11/20). No funding bodies had any role in study design, data collection and analysis, decision to publish, or preparation of the manuscript

The dynamic use of EGFR mutation analysis in cell-free DNA as a follow-up biomarker during different treatment lines in non-small-cell lung cancer patients

Epidermal growth factor receptor (EGFR) mutational testing in advanced non-small-cell lung cancer (NSCLC) is usually performed in tumor tissue, although cfDNA (cell-free DNA) could be an alternative. We evaluated EGFR mutations in cfDNA as a complementary tool in patients, who had already known EGFR mutations in tumor tissue and were treated with either EGFR-tyrosine kinase inhibitors (TKIs) or chemotherapy. We obtained plasma samples from 21 advanced NSCLC patients with known EGFR tumor mutations, before and during therapy with EGFR-TKIs and/or chemotherapy. cfDNA was isolated and EGFR mutations were analyzed with the multiple targeted cobas EGFR Mutation Test v2. EGFR mutations were detected at baseline in cfDNA from 57% of patients. The semiquantitative index (SQI) significantly decreased from the baseline (median = 11, IQR = 9 5-13) to the best response (median = 0, IQR = 0-0, p < 0 01), followed by a significant increase at progression (median = 11, IQR = 11-15, p < 0 01) in patients treated with either EGFR-TKIs or chemotherapy. The SQI obtained with the cobas EGFR Mutation Test v2 did not correlate with the concentration in copies/mL determined by droplet digital PCR. Resistance mutation p.T790M was observed at progression in patients with either type of treatment. In conclusion, cfDNA multiple targeted EGFR mutation analysis is useful for treatment monitoring in tissue of EGFR-positive NSCLC patients independently of the drug received