Guiding signs in metabolic disease diagnosis

Los errores innatos del metabolismo son un grupo de enfermedades genéticas con sintomatología muy inespecífica y por tanto difícil diagnóstico si no existe una sospecha clínica elevada. Sin embargo existen algunos datos de la exploración física y de las pruebas complementarias que pueden enfocar el proceso diagnóstico hacia la solicitud de pruebas específicas que lo confirmen. El caso que presentamos trata de destacar algunos de estos datos que pueden hacer sospechar la existencia de un defecto congénito de la glucosilación de proteínas, trastorno infrecuente pero con algunas formas tratables, por lo que su sospecha y diagnóstico precoz es de vital importanciaInborn errors of metabolism are a group of genetic diseases with non specific symptoms and therefore difficult to diagnose without high clinical suspicion. However there are some physical examination data and laboratory tests that can focus the diagnostic process to the implementation of specific tests to confirm them. The case exposed highlights some of these data that can make us suspect the existence of a congenital defect of glycosylation of proteins, rare disorder but with some treatable variations, that make their suspicion and early diagnosis of great importanc

The Atapuerca sites and the Ibeas hominids

The Atapuerca railway Trench and Ibeas sites near Burgos, Spain, are cave fillings that include a series of deposits ranging from below the Matuyama/Bruhnes reversal up to the end of Middle Pleistocene. The lowest fossil-bearing bed in the Trench contains an assemblage of large and small Mammals including Mimomys savini, Pitymys gregaloides, Pliomys episcopalis, Crocuta crocuta, Dama sp. and Megacerini; the uppermost assemblage includes Canis lupus, Lynx spelaea, Panthera (Leo) fossilis, Felis sylvestris, Equus caballus steinheimensis, E.c. germanicus, Pitymys subtenaneus, Microtus arvalis agrestis, Pliomys lenki, and also Panthera toscana, Dicerorhinus bemitoechus, Bison schoetensacki, which are equally present in the lowest level. The biostratigraphic correlation and dates of the sites are briefly discussed, as are the paleoclimatic interpretation of the Trench sequences. Stone artifacts are found in several layers; the earliest occurrences correspond to the upper beds containing Mimomys savini. A set of preserved human occupation floors has been excavated in the top fossil-bearing beds. The stone-tool assemblages of the upper levels are of upper-medial Acheulean to Charentian tradition. The rich bone breccia SH, in the Cueva Mayor-Cueva del Silo, Ibeas de Juarros, is a derived deposit, due to a mud flow that dispersed and carried the skeletons of many carnivores and humans. The taxa represented are: Vrsus deningeri (largely dominant), Panthera (Leo) fossilis, Vulpes vulpes, Homo sapiens var. Several traits of both mandibular and cranial remains are summarized. Preliminary attempts at dating suggest that the Ibeas fossil man is older than the Last Interglacial, or oxygen-isotope stage 5

Survival and long-term maintenance of tertiary trees in the Iberian Peninsula during the Pleistocene. First record of Aesculus L.

The Italian and Balkan peninsulas have been places traditionally highlighted as Pleistocene glacial refuges. The Iberian Peninsula, however, has been a focus of controversy between geobotanists and palaeobotanists as a result of its exclusion from this category on different occasions. In the current paper, we synthesise geological, molecular, palaeobotanical and geobotanical data that show the importance of the Iberian Peninsula in the Western Mediterranean as a refugium area. The presence of Aesculus aff. hippocastanum L. at the Iberian site at Cal Guardiola (Tarrasa, Barcelona, NE Spain) in the Lower– Middle Pleistocene transition helps to consolidate the remarkable role of the Iberian Peninsula in the survival of tertiary species during the Pleistocene. The palaeodistribution of the genus in Europe highlights a model of area abandonment for a widely-distributed species in the Miocene and Pliocene, leading to a diminished and fragmentary presence in the Pleistocene and Holocene on the southern Mediterranean peninsulas. Aesculus fossils are not uncommon within the series of Tertiary taxa. Many appear in the Pliocene and suffer a radical impoverishment in the Lower–Middle Pleistocene transition. Nonetheless some of these tertiary taxa persisted throughout the Pleistocene and Holocene up to the present in the Iberian Peninsula. Locating these refuge areas on the Peninsula is not an easy task, although areas characterised by a sustained level of humidity must have played an predominant role

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Sap flow, leaf-level gas exchange and spectral responses to drought in Pinus sylvestris, Pinus pinea and Pinus halepensis

In a climate change scenario, Mediterranean forest species such as pines may be endangered by rising temperatures and reduced precipitation, thus calling for studies on the transpiration and water balance in pines. In this paper, the response of young plants of Pinus sylvestris L., Pinus pinea L. and Pinus halepensis Mill. to different irrigation treatments has been studied. Significant differences were found in water potential, sap flow, leaf-level gas exchange and spectral variables. P. sylvestris had higher pre-dawn and midday water potentials, sap flow rates and leaf-level gas exchange rates compared to the other two species in well-watered conditions. Vapor pressure gradient correlated with stomatal conductance, net assimilation and transpiration, but the association between stomatal conductance and sap flow was weak. The environmental variables more strongly associated with sap flow were solar radiation and reference evapo-transpiration, especially in the well-watered plants, but those associations were weaker in the stressed plants. All three pine species showed the isohydric, drought-avoiding strategy common in the genus Pinus, maintaining relatively high water potentials in dry conditions. Nevertheless, P. halepensis showed a water-saving strategy, with a stomatal closure behavior under drought. Stomatal regulation was less strict in P. sylvestris, closer to a water-spending pattern, while P. pinea showed an intermediate behavior. Significant differences were recorded among species in spectral reflectance in the visible and infra-red regions. Photochemical Reflectance Index, Normalized Difference Vegetation Index and combinations of other ratios permitted the discrimination among the three pine species. These spectral variables showed association with sap flow rate, water potential and leaf-level gas exchange variables. Both cluster analysis and k-means classification discriminated Scots pine and Aleppo pine in two different groups. On the other hand, Stone pine showed differences in spectral behavior depending on the hydric status of the plants. Well-watered Stone pine plants had the same spectral behavior as Scots pine, while the plants subjected to drought stress were closer to Aleppo pine plants in spectral response. These findings may help to quantify the impacts of early and mid-summer water deficit on Mediterranean pines in future climate regimes

Los terremotos antiguos del conjunto arqueológico romano de Baelo Claudia (Cádiz, Sur de España): Quince años de investigación arqueosismológica

This work illustrates the state of the art on archaeoseismology of the ancient Roman city of <em>Baelo Claudia</em> (Tarifa, Cádiz) after nearly fifteen years of research. This ancient Roman site was affected by two earthquakes in the years AD 40–60 and AD 260–290 which promoted important urban and architectural changes and eventually the destruction and further abandonment of the city in AD 365–390. Earthquake Archaeoseismological Effects (EAEs) are catalogued, described and mapped in the entire monumental sector of the city mainly witnessing the last earthquake which occurred in AD 260–290. Mapping of oriented EAEs illustrate damage distribution all over the lower sector of the city, as well as the occurrence of suspect coseismic landslide and tsunami events. The structural analysis of oriented EAEs throughout the entire mapped sector suggests that the intervening ground motion was preferentially oriented in a SW to NE direction. The geoarchaeological analysis and some relevant archaeological anomalies, strongly suggest the occurrence of coeval tsunami events during both ancient earthquakes, pointing to the occurrence of an offshore seismic source SSW of the city. Several N-S normal faults have been identified around the Bolonia Bay area and some of them continue offshore SSW of <em>Baelo Claudia</em>. These faults with clear Quaternary activity can be considered as the more probable seismic sources for the events affecting the ancient Roman site and they are consistent with the mapped damage orientation displayed by the structural analysis of EAEs within the old Roman city.<br><br>El presente trabajo ilustra el estado del conocimiento sobre arqueosismología en la antigua ciudad romana de <em>Baelo Claudia</em> (Tarifa, Cádiz) tras casi quince años de investigaciones. Esta antigua ciudad romana se vio afectada por dos importantes terremotos en los años 40–60 AD y 260–290 AD. El primero de ellos afectó en mayor grado a la parte baja (costera) de la ciudad provocando importantes cambios urbanísticos y arquitectónicos (monumentalización) en respuesta a las labores de reconstrucción. El segundo de ellos provocó una mayor destrucción, cuya ruina progresiva desembocó en el abandono definitivo de la ciudad en el 365–390 AD. Se catalogan, cartografían y describen la mayor parte de los Efectos Arqueológicos de los Terremotos (EAEs) del sector monumental de la ciudad, que testifican los efectos producidos por el terremoto ocurrido en el 260–90 AD. La cartografía de daños (EAEs) muestra la distribución y orientación de los daños en la zona baja de la ciudad, así como la ocurrencia de otros procesos cosísmicos, como deslizamientos y pequeños tsunamis. El análisis estructural del conjunto de daños orientados indica que la dirección de movimiento del terreno se produjo en una dirección dominante del SO al NE. Los análisis geoarqueológicos, así como importantes anomalías constructivas y funerarias, sugieren la intervención de tsunamis de escaso poder de penetración durante los dos terremotos, apuntando a la existencia de una fuente sísmica submarina común al SSO de la ciudad. Se han identificado diferentes fallas normales de dirección N-S en la zona de la Bahía de Bolonia, algunas de las cuales se prolongan hacia el interior del mar en la zona SSO de <em>Baelo Claudia</em>. Estas fallas presentan claras evidencias de actividad Cuaternaria y podrían considerarse como las fuentes sísmicas más probables para los dos antiguos terremotos que afectaron a la ciudad en época romana