86 research outputs found

    Report of 4 Cases and Review of the Literature

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    We reviewed the clinical, microbiologic, and outcome characteristics of 72 patients with human immunodeficiency virus (HIV)-associated histoplasmosis (4 newly described) reported in Europe over 20 years (1984-2004). Seven cases (9.7%) were acquired in Europe (autochthonous), whereas the majority involved a history of travel or arrival from endemic areas. The diagnosis of progressive disseminated histoplasmosis (PDH) was made during life in 63 patients (87.5%) and was the acquired immunodeficiency syndrome (AIDS)-presenting illness in 44 (61.1%). Disease was widespread in 66 patients (91.7%) and localized in 6 (8.3%), with the skin being the most frequent site of localized infection. Overall skin involvement was reported in 47.2% of the patients regardless of whether histoplasmosis was acquired in Africa or South America. Reticulonodular or diffuse interstial infiltrates occurred in 52.8%. The diagnosis was made during life by histopathology plus culture in 44 patients (69.8%), histopathology alone in 18 (28.5%), and culture alone in 1 (1.5%). During the induction phase amphotericin B and itraconazole (74.6%) were the single most frequently used drugs. Both drugs were also used either in combination (10.2%) or in sequential therapy (11.8%). Cumulative mortality rate during the induction phase of treatment was 15.2%. Overall, 37 patients died (57.8%); death occurred early in the course in 18 (28.1%). Seven of 40 patients (17.5%) who responded to therapy subsequently relapsed. Autopsy data in 13 patients confirmed the widespread disseminated nature of histoplasmosis (85%) among AIDS patients with a median of 4.5 organs involved. The results of the present report highlight the need to consider the diagnosis of PDH among patients with AIDS in Europe presenting with a febrile illness who have traveled to or who originated from an endemic area

    Seafloor integrity down the harbor waterfront: the coralligenous shoals off Vado Ligure (NW Mediterranean)

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    In the last ten years, European Directives stressed the necessity to assess the ecological status of marine habitats by means of ecosystem or landscape indicators, rather than just species or chemical ones. In this paper, the seascape approach to characterise and assess the ecological quality of coralligenous rocky shoals of Vado Ligure (Savona, Italy) is introduced. This approach integrates biological, mesological and geomorphological information collected with a Rapid Visual Assessment technique (RVA). The RVA also optimised underwater operations in deep waters where coralligenous reefs usually develop and provided a sufficient amount of data collected by direct inspection. The seascape approach results are appropriate for the characterisation of the coralligenous shoals studied and for the assessment of their ecological quality. The quality of the assemblages was in general low, mainly due to high sedimentary stress; however, some exceptions showing a high ecological quality indicate that, with proper manage- ment tools, they would still have good potentialities of recovery

    Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes

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    Carriers of single pathogenic variants of the CFTR (cystic fibrosis transmembrane conductance regulator) gene have a higher risk of severe COVID-19 and 14-day death. The machine learning post-Mendelian model pinpointed CFTR as a bidirectional modulator of COVID-19 outcomes. Here, we demonstrate that the rare complex allele [G576V;R668C] is associated with a milder disease via a gain-of-function mechanism. Conversely, CFTR ultra-rare alleles with reduced function are associated with disease severity either alone (dominant disorder) or with another hypomorphic allele in the second chromosome (recessive disorder) with a global residual CFTR activity between 50 to 91%. Furthermore, we characterized novel CFTR complex alleles, including [A238V;F508del], [R74W;D1270N;V201M], [I1027T;F508del], [I506V;D1168G], and simple alleles, including R347C, F1052V, Y625N, I328V, K68E, A309D, A252T, G542*, V562I, R1066H, I506V, I807M, which lead to a reduced CFTR function and thus, to more severe COVID-19. In conclusion, CFTR genetic analysis is an important tool in identifying patients at risk of severe COVID-19

    SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

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    Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component. Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci (eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene), including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types

    A first update on mapping the human genetic architecture of COVID-19

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    A tale of two invaders: divergent spreading kinetics of the alien green algae Caulerpa taxifolia and Caulerpa cylindracea

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    partially_open4The two alien green algae Caulerpa taxifolia and Caulerpa cylindracea (formerly Caulerpa racemosa var. cylindracea) are among the most notorious and threatening invasive species in the Mediterranean Sea. From the beginning of their introduction, C. taxifolia aroused a great concern due to its initial exponential spread and impacts on native ecosystems, whilst C. cylindracea received lower attention. In this paper, the distribution of the two aliens over the last 30 years in the Italian side of the Ligurian Sea (NW Mediterranean Sea) is reviewed and the kinetics of their spreading is compared. We combined available data on habitat occupancy with data on substratum cover obtained during underwater surveys to compute the average annual spreading rates for both aliens. C. taxifolia had an impressive expansion phase from 1984 to 2000 but then, its dispersal rate showed lower than that predicted and the species did not persist in areas formerly colonized. Today, abundance of this species is strongly declined as it disappeared from most of the attained areas. On the contrary, C. cylindracea exhibited an impressive and constant expansion from the beginning of its first appearance in the Ligurian Sea and, today, it is still increasing its range and habitat occupancy. Its abundance results 1.5-times greater than that reached by C. taxifolia during the period of its maximum expansion. The divergent kinetics of spreading of the two aliens prevents any possibility of generalization of the future behaviour of invasive species in the Mediterranean Sea: continuous and periodic surveys are thus mandatory to understand the kinetics of expansion and to define species-specific models.openMontefalcone, M.; Morri, C.; Parravicini, V.; Bianchi, C.N.Montefalcone, Monica; Morri, Carla; Parravicini, Valeriano; Bianchi, Carl

    The changing biogeography of the Mediterranean Sea: from the old frontiers to the new gradients

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    Work partly done in the frame of the project ‘The impacts of biological invasions climate change on the biodiversity of the Mediterranean Sea’ funded by the Italian Ministry of the Environment.Peer Reviewe

    Coastal and marine geomorphology between Albenga and Savona (NW Mediterranean Sea, Italy).

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    In this paper, we present a map describing the main geomorphological features of the coastal and marine area between the towns of Albenga and Savona (Ligurian Sea, NW Mediterranean) corresponding to a coastal stretch of 3c40\u2005km. To produce this map, we collated data from the literature, orthophotos, perspective photos, multibeam and side scan sonar data, and undertook direct surveys to ground truth data obtained using indirect techniques. We divided the information into nine thematic layers, including bathymetry, natural coastal types, geomorphological elements, seafloor coverage (both geological and biological), coastal and nearshore dynamics, human influence on coastal and marine environments, coastal occupation and protected areas
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