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Clinicians’ Perspectives and Methodological Application of Fluorescence in Situ Hybridization (FISH) to Define Cytogenetic Risk in Multiple Myeloma: An Italian, Real-World, Survey-Based Report from the European Myeloma Network (EMN) Italy
No full textFluorescence in situ hybridization (FISH) is the standard technique for the prognostic detection
of cytogenetic abnormalities (CA) in multiple myeloma (MM). In Italy, the application of
practical guidelines for FISH testing in clinical studies and the degree of standardization of
laboratory techniques are largely unknown. We conducted a survey from April to July 2023
among 70 MM-treating centers associated with the European Myeloma Network Italy and
geographically well distributed across Italy. We aimed to record laboratory and clinicians’
perspectives about FISH application in Italy, with a focus on 1q alterations. FISH was widely
accessible across the country, with 71% of centers performing it locally, while the remaining
centers (predominantly those with <30 newly diagnosed MM cases/year) sent samples to
external laboratories. Variability in laboratory techniques, such as CD138+ cell purification and
CA detection thresholds, was observed among centers. The centers analyzed del(17p) (100%),
t(4;14) (100%), t(14;16) (98%), 1q+ (96%, with 70% distinguishing between gain and
amplification), t(11;14) (90%), del(1p32) (88%), del(13q) (68%), and hyperdiploidy (52%).
FISH emerged as a crucial prognostic technique, since 94% of centers used the Revised
International Staging System (R-ISS) at diagnosis, and 69% implemented the recent R2-ISS.
Most centers performed FISH at diagnosis in all patients, while others did not routinely perform
FISH in some categories of patients (e.g., aged >80 years). At relapse, 53% of centers routinely
repeated FISH testing, 9% did not, while others repeated it selectively. This overview of FISH
use in Italy provides a basis for future standardization effort
Toward a green strategy of sponge mariculture and bioactive compounds recovery
Get PDFSponges are benthic filter-feeder invertebrates capable to produce a variety of high value bioactive compounds. Nevertheless, exploitation of sponges as bio-factories requires scalable and sustainable strategies to supply sponge biomass without threatening wild natural populations and to minimize the consumption of toxic organic solvents in metabolites extraction and purification procedures. Sponges farming in integrated facilities nearby fish mariculture cages represents a highly efficient strategy combining the production of sponge biomass with bioremediation. Here we report the results of the in situ rearing of the keratose sponge Sarcotragus spinosulus developed within three years in an innovative Integrated Multi-Trophic Aquaculture system in the Gulf of Taranto (Southern Italy, Mediterranean Sea), capable to supply large-scale sponge biomass with a minimal impact on wild populations. Moreover, we demonstrate the proof of concept that it is possible to produce polyprenyl hydroquinones, selected as well-known bioactive model metabolites, in good yields, high purity degree and low organic solvent consumption, by means of an innovative protocol based on the combination of supercritical carbon dioxide fluid extraction and gel permeation chromatography. Such a combination of eco-friendly techniques paves the way to eco-sustainable supply of bioactive compounds from marine organisms highly profitable in terms of working times, costs, solvents, and energy saving
Introduzione. Il Mediterraneo nella storia
No full textIl Mediterraneo ha costituito, da sempre, il teatro in cui sono andate in scena le epopee di grandi civiltà, imperi e culture. Ciò vale, a maggior ragione, per quel frangente storico che siamo soliti chiamare Medioevo, la cui storia è, per sua natura, una storia mediterranea. Seguendo una precisa scansione diacronica, ed entro una cornice coerente il manuale ricostruisce le molte storie medievali del Mediterraneo, mettendo in luce i tempi del loro sviluppo, gli spazi abitati e navigati – che ne hanno segnato i principali tornanti dal punto di vista politico, economico, sociale e culturale – e le interazioni tra le sue sponde. Una trama che si sviluppa a oriente e a occidente, a settentrione e a meridione di un mare che ha connesso per secoli tre continenti
Non-commutative skew-product extension dynamical systems
No full textStarting from a uniquely ergodic action of a locally compact group G on
a compact space X0, we consider non-commutative skew-product extensions of the
dynamics, on the crossed product C(X0) α Z, through a 1-cocycle of G in T, with
α commuting with the given dynamics. We first prove that any two such skew-product
extensions are conjugate if and only if the corresponding cocycles are cohomologous.
We then study unique ergodicity and unique ergodicity with respect to the fixed-point
subalgebra by characterizing both in terms of the cocycle assigning the dynamics. The
set of all invariant states is also determined: it is affinely homeomorphic with P(T),
the Borel probability measures on the one-dimensional torus T, as long as the system
is not uniquely ergodic. Finally, we show that unique ergodicity with respect to the
fixed-point subalgebra of a skew-product extension amounts to the uniqueness of an
invariant conditional expectation onto the fixed-point subalgebra
Molecular Identification of the Italian Soldiers Found in the Second World War Mass Grave of Ossero
Get PDFackground/objectives: DNA analysis is the most reliable method for the identification of human skeletal remains, especially the ones found in mass disasters or recovered from mass graves. To this aim, DNA was extracted from bones and teeth allegedly belonging to 27 Italian soldiers executed during the Second World War and exhumed from a mass grave in Ossero (Croatia). Methods: A selection of 131 different bone samples (petrous bones, femurs, metacarpal, and metatarsal bones) and 16 molar teeth were used for DNA extraction. Autosomal and Y-chromosome STR profiles were determined using a conventional CE approach, while a panel of 76 microhaplotypes was investigated through MPS. Results: Overall, 24 different autosomal consensus male profiles and six (unexpected) female profiles were identified; the male profiles were then compared with 21 alleged living relatives of the missing soldiers belonging to 14 unrelated Italian families. The DVI module of the Familias software was used for computing the LRs and the posterior probabilities (PP). The combination of autosomal STRs and microhaplotypes led to the identification of six victims and to a very likely identification of another one, supported by Y-haplotype sharing between victim and relative. Three distant victim–relative relationships resulting in low LR values for the autosomal markers showed Y-STR haplotype-sharing patterns, thus suggesting very strong support for a paternal relationship. Conclusions: The results of this study confirmed the effectiveness of the genetic approach and highlighted the presence of more individuals than expected in the mass grave, among which six were female subjects
Heart-Liver Interplay in Patients with Fontan Circulation
No full text: Background: The Fontan procedure has provided pediatric patients suffering from severe congenital heart disease the opportunity to reach adulthood. Increasingly, we encounter the liver repercussions of Fontan circulation, alongside a decline in heart function and exercise performance. This study aims to identify the univentricular heart malformations that are most susceptible to liver dysfunction; assess which markers of liver injury are essential for multidisciplinary clinical follow-up of Fontan patients; determine the optimal approach for evaluating liver function in Fontan patients; and explore how a congenital cardiology team can interpret the data and respond effectively to signs of organ failure. Methods: Cross-sectional clinical study including patients who underwent a Fontan procedure at the University Hospital of Padua between 1982 and 2017. Patients were admitted for elective hospitalization between June 2021 and June 2022 and underwent clinical assessment, laboratory tests, and instrumental examinations. Results: Seventy patients were included in the study. On admission, 48 patients (72%) were in New York Heart Association (NYHA) functional class I, and the cardiopulmonary exercise test was normal for age and gender. At laboratory tests, 56% of patients showed changes in NTproBNP values, most of whom had right-sided ventricular morphology. Liver function tests showed abnormal Gamma-Glutamyl Transferase (GGT) blood levels in 68%. On cardiac imaging, at least moderate atrioventricular valve insufficiency was found in 9% of cases. Fibroscan showed altered hepatic stiffness values in 25% of cases. Statistical analysis showed that systemic atrioventricular valve (SAVV) dysfunction was significantly associated with a reduction of maximum oxygen consumption (VO2 max) and hepatic stiffness. Conclusions: SAVV dysfunction is significantly responsible for worse functional outcomes and the development of hepatic fibrosis due to an increase in venous congestion. Setting up a careful multidisciplinary follow-up in these patients is mandatory for early detection of complications, prompt treatment, and better outcomes
Genome Wide Identification of Structure Variations in Five Italian Turkey Populations
No full textStructural variants (SVs) are one of the main sources of genetic variants and have a significant impact on phenotype evolution, disease susceptibility, and environmental adaptations. We used 73 whole genome sequencing (12x) to apply a mapping approach to identify SVs in five turkey populations. A notable degree of genetic isolation was observed between the Basilicata and Apulian populations, as indicated by principal component analysis and admixture results. A total of 11,733 SVs were detected, including 6712 deletions, 2671 duplications, 1430 inversions, and 920 translocations. The Variant Effect Predictor (VEP) analysis predicted various consequences of filtered SVs as follows: intron variants (35.8%), intergenic variants (9.6%), coding sequence variants (8.3%), downstream gene variants (7.5%), and transcript ablations (7.3%). Our functional annotation of genes overlapping with SVs was mainly enriched in recognized pathways governing positive regulation of nucleoplasm, protein binding, mitochondrion, negative regulation of cell population proliferation, identical protein binding, and calcium signaling. We produced a comprehensive SV catalog utilizing unique whole-genome turkey data. This SV catalog not only increases our understanding of genetic diversity in turkeys but also enhances our knowledge of the role of SVs in their phenotypic traits
Head and neck cutaneous basal cell carcinoma: a retrospective analysis of tumour features, surgical margins and recurrences
Get PDFPurpose: The aim of this study was to analyse the factors affecting the status of surgical margins and recurrence of basal cell carcinoma (BCC) of the head and neck. A secondary aim was to provide detailed demographic, clinical and topographic data to understand the biological behaviour of this skin cancer in head and neck area. Methods: A retrospective analysis was conducted analysing all primary head and neck BCCs treated from July 2014 to October 2021. Chi-square and logistic regression were used to assess the presence of statistically significant associations. Results: The study cohort included 307 patients who underwent resection of 377 BCCs. The mean age of the patients was 76.86 years. There were 251 (67%) clean surgical margins, 80 (21%) positive and 46 (12%) closed. Recurrences were observed in 11 (5%) out of 218 BCCs of patients with a minimum follow-up of 24 months. The median follow-up time was 35 months. Positive margin status was significantly associated with BCC of the nose, while clean margin was correlated with neck localization (p<0.05). Clean margin status was linked with direct closure (p<0.05), while positive and closed margins were significantly associated to local flaps (p<0.05). Positive margin status was significantly related to depth of invasion below the dermis (p<0.05). Conclusion: The location, depth of invasion and method of reconstruction of head and neck BCC influence the completeness of surgical resection. Considering the low recurrence rate, clinical observation is an acceptable management option in patients with compromised margins, especially in elderly and frail patient populations
Intestinal Microbiota Dysbiosis Role and Bacterial Translocation as a Factor for Septic Risk
Get PDFThe human immune system is closely linked to microbiota such as a complex symbiotic relationship during the coevolution of vertebrates and microorganisms. The transfer of microorganisms from the mother’s microbiota to the newborn begins before birth during gestation and is considered the initial phase of the intestinal microbiota (IM).
The gut is an important site where microorganisms can establish colonies. The IM contains polymicrobial communities, which show complex interactions with diet and host immunity.
The tendency towards dysbiosis of the intestinal microbiota is influenced by local but also extra-intestinal factors such as inflammatory processes, infections, or a septic state that can aggravate it. Pathogens could trigger an immune response, such as proinflammatory responses. In addition, changes in the host immune system also influence the intestinal community and structure with additional translocation of pathogenic and non-pathogenic bacteria. Finally, local intestinal inflammation has been found to be an important factor in the growth of pathogenic microorganisms, particularly in its role in sepsis. The aim of this article is to be able to detect the current knowledge of the mechanisms that can lead to dysbiosis of the intestinal microbiota and that can cause bacterial translocation with a risk of infection or septic state and vice versa
Foreign direct investments in the Italian port environment: International legal toolkit and some proposals to boost attractiveness
No full textThe paper aims to focus on the main features that the attractiveness of the
port business environment should disclose taking account of the contemporary challenges that global trade and investments are facing