Linee guida per la valutazione della resilienza delle foreste Mediterranee ai cambiamenti climatici [Guidelines for assessing the resilience of Mediterranean forests to climate change]

We have defined optimal management models for improving or strengthening the resilience of forest environments: in particular, five best management practices aiming at improving the Mediterranean forests resilience with reference to the desertification risk. The 5 Best ManagementPractices are: BMP1 - Actions favoring mixing of species and hydrogeological stability of forests; BMP2 - Renaturalization of forest plantations; BMP3 - Remedial measures and restoration of degraded forests; BMP4 - Actions aimed at enhancing complex structural forests; BMP5 - Actions favoring connectivity in agro-forestry systems. The best management practices have been then applied adapting them to 16 different intervention types and they have been tested on 10 regional forest categories on an overall surface of 120 hectares. The intervention areas make up a set of testing areas according to the different intervention types carried out. Finally, we have defined the forest resilience Assessment Chart. The Chart has been worked out to improve the sylviculturist\u2019s intervention assessment in order to grant a proper application of the forest resilience intervention practices. This chart includes 10 questions on parameters having an influence on the resilience and on the forest adaptation capacity to climate changes. The parameters are: current and dynamic Forest Category; Specific tree Composition; Vegetation Layers covering; Forest vertical structure; Forest horizontal structure; Dendrometric parameters; Species indicating disturbance; Ground cover; Regeneration; Internal and external steadiness

Analysis of BRCA1 and RAD51C promoter methylation in italian families at high-risk of breast and ovarian cancer

Previous studies on breast and ovarian carcinoma (BC and OC) revealed constitutional BRCA1 and RAD51C promoter hypermethylation as epigenetic alterations leading to tumor predisposition. Nevertheless, the impact of epimutations at these genes is still debated. One hundred and eight women affected by BC, OC, or both and considered at very high risk of carrying BRCA1 germline mutations were studied. All samples were negative for pathogenic variants or variants of uncertain significance at BRCA testing. Quantitative BRCA1 and RAD51C promoter methylation analyses were performed by Epityper mass spectrometry on peripheral blood samples and results were compared with those in controls. All the 108 analyzed cases showed methylation levels at the BRCA1/RAD51C promoter comparable with controls. Mean methylation levels (\ub1 stdev) at the BRCA1 promoter were 4.3% (\ub1 1.4%) and 4.4% (\ub1 1.4%) in controls and patients, respectively (p > 0.05; t-test); mean methylation levels (\ub1 stdev) at the RAD51C promoter were 4.3% (\ub1 0.9%) and 3.7% (\ub1 0.9%) in controls and patients, respectively (p > 0.05; t-test). Based on these observations; the analysis of constitutional methylation at promoters of these genes does not seem to substantially improve the definition of cancer risks in patients. These data support the idea that epimutations represent a very rare event in high-risk BC/OC populations

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

Beckwith–Wiedemann and IMAGe syndromes : two very different diseases caused by mutations on the same gene

Genomic imprinting is an epigenetically regulated mechanism leading to parental-origin allele-specific expression. Beckwith\u2013Wiedemann syndrome (BWS) is an imprinting disease related to 11p15.5 genetic and epigenetic alterations, among them loss-of-function CDKN1C mutations. Intriguing is that CDKN1C gain-of-function variations were recently found in patients with IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies). BWS and IMAGe share an imprinted mode of inheritance; familial analysis demonstrated the presence of the phenotype exclusively when the mutant CDKN1C allele is inherited from the mother. Interestingly, both IMAGe and BWS are characterized by growth disturbances, although with opposite clinical phenotypes; IMAGe patients display growth restriction whereas BWS patients display overgrowth. CDKN1C codifies for CDKN1C/KIP2, a nuclear protein and potent tight-binding inhibitor of several cyclin/Cdk complexes, playing a role in maintenance of the nonproliferative state of cells. The mirror phenotype of BWS and IMAGe can be, at least in part, explained by the effect of mutations on protein functions. All the IMAGe-associated mutations are clustered in the proliferating cell nuclear antigen-binding domain of CDKN1C and cause a dramatic increase in the stability of the protein, which probably results in a functional gain of growth inhibition properties. In contrast, BWS mutations are not clustered within a single domain, are loss-of-function, and promote cell proliferation. CDKN1C is an example of allelic heterogeneity associated with opposite syndromes

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

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

PROGETTO LIFE11 ENV IT 215 RESILFORMED - RESILIENZA AL CAMBIAMENTO CLIMATICO NELLE FORESTE MEDITERRANEE

Le condizioni climatiche delle regioni mediterranee, caratterizzate da frequenti annate siccitose, contribuiscono all’indebolimento degli ecosistemi forestali. Come risultato le foreste riducono le loro capacità produttive e sono più soggette a fenomeni di degrado secondario. Inoltre i contesti economico-sociali possono acuire il degrado con la diffusione di uno scorretto uso della risorsa (tagli boschivi, pascolamento) e con la diffusione degli incendi boschivi. L’obiettivo generale del progetto è preservare i sistemi forestali in ambiente mediterraneo dai rischi derivanti dai cambiamenti climatici, tramite processi di naturalizzazione, aumento di biodiversità e migliorata reattività, nei processi di recupero, in seguito ad eventi destabilizzanti. Obiettivo specifico è implementare una politica forestale regionale in grado di aumentare la capacità di resilienza delle foreste siciliane, migliorandone l’efficienza ecosistemica e favorendo la salvaguardia della biodiversità. Tra le azioni principali previste dal progetto, che si concluderà alla fine del 2015, si possono citare la classificazione delle categorie forestali siciliane in funzione della sensibilità alla desertificazione, l’indagine diacronica sull’uso e copertura del suolo dei principali paesaggi forestali siciliani, la definizione di prassi selvicolturali specifiche; la realizzazione di 120 ettari di interventi dimostrativi in 6 aree della Sicilia; la realizzazione di 6 piani di indirizzo forestali attraverso processi partecipativi con le popolazioni locali. Nella fase finale del progetto è prevista l’implementazione delle linee strategiche sperimentate con ResilForMed nel Piano Forestale Regionale della Sicilia

Fragile X syndrome : A review of clinical and molecular diagnoses

Background: Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000\u20137000 men and 1:4000\u20136000 women. It is caused by an alteration of the FMR1 gene, which maps at the Xq27.3 band: more than 99% of individuals have a CGG expansion (>200 triplets) in the 5\u2032 UTR of the gene, and FMR1 mutations and duplication/deletion are responsible for the remaining (<1%) molecular diagnoses of FXS. The aim of this review was to gather the current clinical and molecular knowledge about FXS to provide clinicians with a tool to guide the initial assessment and follow-up of FXS and to offer to laboratory workers and researchers an update about the current diagnostic procedures. Discussion: FXS is a well-known condition; however, most of the studies thus far have focused on neuropsychiatric features. Unfortunately, some of the available studies have limitations, such as the paucity of patients enrolled or bias due to the collection of the data in a single-country population, which may be not representative of the average global FXS population. In recent years, insight into the adult presentation of the disease has progressively increased. Pharmacological treatment of FXS is essentially symptom based, but the growing understanding of the molecular and biological mechanisms of the disease are paving the way to targeted therapy, which may reverse the effects of FMRP deficiency and be a real cure for the disease itself, not just its symptoms. Conclusions: The clinical spectrum of FXS is wide, presenting not only as an isolated intellectual disability but as a multi-systemic condition, involving predominantly the central nervous system but potentially affecting any apparatus. Given the relative high frequency of the condition and its complex clinical management, FXS appears to have an important economic and social burden