Factors de fracàs de la ventilació mecànica no invasiva en malalts crítics amb insuficiència respiratòria aguda hipoxèmica de novo

Resum: Introducció: En la hipoxemia de novo la indicació de la VNI és controvertida. Sembla que el fracàs de la VNI s’associa a major mortalitat en aquests malalts. Objectiu: Identificar possibles factors predictors de fracàs de la VNI. Pacients i mètodes: Estudi observacional retrospectiu de 35 malalts ingressats per hipoxemia de novo i que van rebre tractament de suport amb ventilació no invasiva. Resultats: En aquests malalts la VNi va fracasar més del 50%, sobretot en malalts amb SDRA i en els més hipoxèmics. Els malalts que van fracassar van tenir major mortalitat, més infeccions nosocomials respiratòries i més dies d’ingrés a UCI.

Identifying the parent-of-origin of de novo SNVs in schizophrenia

Several studies over the last few years have shown that newly arising (de novo) mutations contribute to the genetics of schizophrenia (SZ), autism (ASD) and other developmental disorders. The strongest evidence comes from studies of de novo Copy Number Variation (CNV), where the rate of new mutations is shown to be increased in cases when compared to controls [23, 24]. Research on de novo point mutations and small insertion-deletions (indels) has been more limited, but with the development of next-generation sequencing (NGS) technology, such studies are beginning to provide preliminary evidence that de novo single-nucleotide mutations (SNVs) might also increase risk of SZ and ASD [25, 26] Advanced paternal age is a major source of new mutations in human beings [27] and could thus be associated with increased risk for developing SZ, ASD or other developmental disorders. Indeed, advanced paternal age is found to be a risk factor for developing SZ and ASD in the offspring [28, 29] and new mutations related to advanced paternal age have been implicated as a cause of sporadic cases in several autosomal dominant diseases, some neurodevelopmental diseases, including SZ and ASD, and social functioning. New single-base substitutions occur at higher rates at males compared to females and this difference increases with paternal age. This is due to the fact that sperm cells go through a much higher number of cell divisions (~840 by the age of 50), which increases the risk for DNA copy errors in the male germ line [30] . By contrast, the female eggs (oocytes) undergo only 24 cell divisions and all but the last occur during foetal life. The aim of my project is to determine the parent-of-origin of de novo SNVs, using large samples of parent-offspring trios affected with schizophrenia (SZ). From whole exome sequencing of 618 Bulgarian proband-offspring trios affected, nearly 1000 de novo (SNVs or small indels) have been identified and from these, the parent-of-origin of at least 60% of the mutations (N=600) can be established. This project is contained in a main one that consists on the determination of the parental origin of different types of de novo mutations (SNVs, small indels and large CNVs).

Marmora at the Tarraco of the Antonines: the assemblage of Sant Pau and Santa Tecla Hospital (Tarragona, Spain)

This paper presents an assemblage of marmora found during the archaeological excavation undertaken in 1992, a small part of the site where the Hospital of Sant Pau and Santa Tecla stands today, at Rambla Vella of Tarragona (Spain). Most of them are coloured marmora from a wide range of quarries: not only local (Santa Tecla stone, Alcover stone) and regional (broccatello) but also imported, such as giallo antico, pavonnazzetto, africano, portasanta, porfido rosso, serpentino, breccia di Settebasi. Even though some fine-grained, white marble fragments were also found, they are not being discussed here. Despite the small number of fragments recovered, this set is highly interesting as they were found in a clear, well-dated stratigraphical context: a soil from 125-150 AD that filled up some sort of building from Augustan times. The location of the site, on the limits of the upper part of the town, which was devoted to public areas (mainly related to the imperial worship, the provincial government and public), and the lower part of Tarraco, where the other activities (residential, colonial govern, etc) took place, is also significant. Therefore, both its location and its date are significant, as during this period the upper part of Roman Tarraco underwent major urban modifications which gave it the magnificence worthy of the capital of the largest province of the western part of Roman Empire.