Cytogenetic study in therapy-related myelodysplastic syndromes (t-MDS) and acute non-lymphocytic leukaemia (t-ANLL).

A cytogenetic study was performed in 27 patients suspected of t-MDS or t-ANLL. In 12 patients the diagnosis of t-MDS or t-ANLL was confirmed by morphological, cytochemical and immunophenotypical analysis. The cases were classified as RA (one), RAEB (four), CMML (two), ANLL (five). They had received chemotherapy and/or RT for Hodgkin's disease (eight cases), solid tumours (three cases) and multiple myeloma (one case). Clonal chromosome abnormalities were found in bone marrow or peripheral blood cells in all the 12 cases. Five patients had a clonal abnormality of chromosome no. 5 (monosomy, deletions, translocation and inversion of 5q). The critical region on chromosome no. 5 comprised bands q12-q34. Monosomy and deletion of chromosome 7q was observed in the other two patients. In the six remaining patients various karyotypic patterns were observed including a t(4;11) (q21;q23) in one case, monosomies (four cases) and trisomies (one case) of different chromosomes. In the other 15 cases, the presence of a normal karyotype together with the morphological and immunophenotypical characterisation was consistent with a diagnosis of non-neoplastic specimens

A case study of the application of hand-held mobile laser scanning in the planning of an Italian forest (Alpe Di Catenaia, Tuscany)

Precision forestry is becoming a key sector for forest planning because it allows complex analyses of forest data to be carried out simply and economically. It contributes to the integration between technicians and operators in the sector by guaranteeing the transparency of the forest management operations (Corona et al., 2017). In the context of the progressive development of technology, we investigated the feasibility of using the hand-held mobile laser scanner (HMLS) system in different types of forest sites and comparison of the characteristics of individual trees (tree height, diameters at breast height) with traditional surveys, applied with the aim to validate the performance of the system for a future alternative methodology for forest planning thanks to the collaboration with the forestry company “Dimensione Ricerca Ecologia Ambiente Italia” (D.R.E.Am. Italia). GEOSLAM ZEB HORIZON ™ laser scanner is a hand-held mobile laser scanner containing SLAM technology that can be solved the problem of no GNSS signal or poor signal under the forest canopy making it more practical for forest investigations (Gollob et al., 2020). 15 forest sample plots are selected to reflect different stand conditions in Mediterranean forests taking into count the development stage and density of the sub-canopy vegetation, as well as the species composition in the forest stands. The aim of this study is to show the possible extrinsic circumstances that make the method fail by varying the ecological status of forest plots

Genetic polymorphisms and sepsis in premature neonates

Identifying single nucleotide polymorphisms (SNPs) in the genes involved in sepsis may help to clarify the pathophysiology of neonatal sepsis. The aim of this study was to evaluate the relationships between sepsis in pre-term neonates and genes potentially involved in the response to invasion by infectious agents. The study involved 101 pre-term neonates born between June 2008 and May 2012 with a diagnosis of microbiologically confirmed sepsis, 98 pre-term neonates with clinical sepsis and 100 randomly selected, otherwise healthy pre-term neonates born during the study period. During the study, 47 SNPs in 18 candidate genes were genotyped on Guthrie cards using an ABI PRISM 7900 HT Fast real-time and MAssARRAY for nucleic acids instruments. Genotypes CT and TT of rs1143643 (the IL1\u3b2 gene) and genotype GG of rs2664349GG (the MMP-16 gene) were associated with a significantly increased overall risk of developing sepsis (p = 0.03, p = 0.05 and p = 0.03), whereas genotypes AG of rs4358188 (the BPI gene) and CT of rs1799946 (the DEF\u3b21 gene) were associated with a significantly reduced risk of developing sepsis (p = 0.05 for both). Among the patients with bacteriologically confirmed sepsis, only genotype GG of rs2664349 (the MMP-16 gene) showed a significant association with an increased risk (p = 0.02). Genotypes GG of rs2569190 (the CD14 gene) and AT of rs4073 (the IL8 gene) were associated with a significantly increased risk of developing severe sepsis (p = 0.05 and p = 0.01). Genotype AG of rs1800629 (the LTA gene) and genotypes CC and CT of rs1341023 (the BPI gene) were associated with a significantly increased risk of developing Gram-negative sepsis (p = 0.04, p = 0.04 and p = 0.03). These results show that genetic variability seems to play a role in sepsis in pre-term neonates by influencing susceptibility to and the severity of the disease, as well as the risk of having disease due to specific pathogens. \ua9 2014 Esposito et al

Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients

Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are imprinting-related disorders associated with genetic/epigenetic alterations of the 11p15.5 region, which harbours two clusters of imprinted genes (IGs). 11p15.5 IGs are regulated by the methylation status of imprinting control regions ICR1 and ICR2. 3D chromatin structure is thought to play a pivotal role in gene expression control; however, chromatin architecture models are still poorly defined in most cases, particularly for IGs. Our study aimed at elucidating 11p15.5 3D structure, via 3C and 3D FISH analyses of cell lines derived from healthy, BWS or SRS children. We found that, in healthy cells, IGF2/H19 and CDKN1C/KCNQ1OT1 domains fold in complex chromatin conformations, that facilitate the control of IGs mediated by distant enhancers. In patient-derived cell lines, we observed a profound impairment of such a chromatin architecture. Specifically, we identified a cross-talk between IGF2/H19 and CDKN1C/KCNQ1OT1 domains, consisting in in cis, monoallelic interactions, that are present in healthy cells but lost in patient cell lines: an inter-domain association that sees ICR2 move close to IGF2 on one allele, and to H19 on the other. Moreover, an intra-domain association within the CDKN1C/KCNQ1OT1 locus seems to be crucial for maintaining the 3D organization of the region

Gender congruency goes Europe: A cross-linguistic study of the gender congruency effect in Romance and Germanic languages.

Theoretical and Experimental Linguistic

Contested resources: unions, employers, and the adoption of new work practices in US and UK telecommunications

The pattern of adoption of high-performance work practices has been explained in terms of strategic contingency and in terms of union presence. We compare the post-deregulation/privatization changes in work practice at AT&T, Bell Atlantic and British Telecom. On the basis of these cases, we argue that the choice of new work practices should be understood as a consequence not only of the company's resources or changes in its environment, nor of a simple union presence, but also as a consequence of the practices' effects on union power, the nature of the union's engagement, and the union's strategic choices

Trends in the magnitude of chronic conditions in patients hospitalized with a first acute myocardial infarction

Background: Among adults with heart disease, there is a high prevalence of concomitant chronic medical conditions. We studied patients with a first acute myocardial infarction to describe: sample population characteristics; trends of the most prevalent pairs of chronic conditions; and differences in hospital management according to burden of these morbidities. Methods and Results: Patients (n = 1,564) hospitalized with an incident AMI at the 3 major medical centers in central Massachusetts during 2005, 2011, and 2015 comprised the study population. Hospital medical records were reviewed to identify 11 more prevalent chronic conditions. The median age of this population was 68 years and 56% were men. The median number of previously diagnosed chronic conditions was 2. Patients hospitalized during 2015 were more likely to be younger than those hospitalized in the earliest study cohorts. The most common pairs of chronic conditions for those hospitalized in 2005 were: anemia-chronic kidney disease (31%), chronic kidney disease-heart failure (30%), and stroke-atrial fibrillation (27%). Among patients hospitalized during 2011, chronic kidney disease-heart failure (29%), hypertension-hyperlipidemia (27%), and hypertension-diabetes (27%) were the most common pairs whereas hypertension-hyperlipidemia (43%), diabetes-heart failure (30%), and chronic kidney disease-diabetes (23%) were the most frequent pairs recorded in 2015. There was a significant decrease in the odds of undergoing cardiac catheterization and a percutaneous coronary intervention in those with higher chronic disease burden in the most recent as compared to earliest study years. Conclusions: Our findings highlight the magnitude of chronic conditions in patients with AMI and the challenges of caring for this vulnerable population

(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome

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