Clinical, histopathological and molecular characterization of hypoplastic myelodysplastic syndrome

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The power of video in science communication: the EDUlab media production

Avvicinare la scienza e la ricerca alle persone, in ogni aspetto, significa avvicinare il pubblico a temi complicati, inspirando buone norme comportamentali di rispetto e tutela ambientale ma anche avvicinare la scienza a chi ogni giorno è in grado di decidere, attraverso i finanziamenti, quali lavori scientifici supportare. Proprio in coscienza di questo, negli ultimi decenni la scienza ha smesso di essere autoreferenziale, comprendendo che divulgare contenuti altamente scientifici a ad un pubblico non specialistico è fondamentale. Divulgare vuol dire creare quell’anello di congiunzione tra la ricerca scientifica più avanzata e il pubblico, significa saper capire il linguaggio spesso criptico dei ricercatori e di adattarlo senza stravolgimenti in qualcosa di comprensibile alle persone comuni. Con questa mission, nel 2015 nasce ufficialmente il gruppo “EDULab dell’IAS-CNR di Capo Granitola”, ovvero un laboratorio creativo di divulgazione scientifica in cui ricercatori, tecnologi e tecnici di varie discipline che condividono la passione di divulgare la scienza e i risultati da essa prodotti nei propri ambiti di competenza. Nel tempo, l’attività del gruppo si è consolidata, portando a numerosi risultati e ad un numero ragguardevole di progetti e programmi. Tra gli innumerevoli prodotti divulgativi sviluppati, l’uso dei media, ed in particolare dei video, si è rivelato uno strumento eccezionale di “comunicazione empatica” attraverso cui il pubblico riesce ad “immergersi” letteralmente nei contenuti proposti, recependo e facendo propri contenuti anche molto complessi. Nell’era del web e dei social-media, infatti, i video sono ormai lo strumento più veloce ed efficace per veicolare informazioni ad un’ampia fetta di popolazione

The imaging for the the successful bio-communication: ORBS Brand

Producing accessible communication based on scientific research usually involves a great deal of effort in translating complex concepts into a non professional oriented information, but it is only through widely accessible data that knowledge dissemination have stronger repercussions in society. In concordance to this statement, the CNR IAMC and the “Accademia di Belle Arti di Palermo” collaborated in the work frame of the "Information, dissemination and communication system of the Biodiversity Observatory of Sicily” project, a synergistic interaction between science and art. The researchers held biodiversity seminars to the Academy students, involving 19 professorships, aiming to increase the knowledge degree and awareness on the biodiversity, thus stimulating their creativity. One of the main activities carried out during this collaboration was the conceptualization and designing of the Biodiversity Observatory brand, with the representation of biodiversity as the main briefing. The winning proposal was chosen between 13 projects by popular vote, with the participation of more than 800 students and CNR researchers. The branding is a representation of the environment with the use of different animal silhouettes as a symbol of biodiversity. The elements are arranged on a spiral grid suggesting movement, a current that raises deep, nutrient-rich waters to the ocean surface. Extremely evocative and appealing, the logotype has become an integral part of the Observatory's identity, and it's been profusely applied over the years on communication and divulgative materials, website, exhibitions, and memorabilia. Involving such a large number of students and their social groups (family, friends, and etcetera) meant giving the citizens a leading role in an important activity. Participation of the public in the creation of the graphic identity of a key structure in their territory resulted in a dramatic increase of sensitization on the biodiversity and environmental cause and participation in divulgation activities in the following years

Mio figlio e la scuola. Uno strumento di valutazione delle opinioni dei genitori.

Lo studio propone un nuovo strumento, un breve questionario sulla situazione scolastica dei figli (relazioni sociali e rendimento), che è stato somministrato a 264 madri con figli di età compresa tra 7 e 11 anni e analizzato mediante analisi fattoriale. Le dimensioni componenti sono state correlate con valutazioni degli insegnanti (STRS di Pianta, 2001; SAS, nuova scala adattata da Molinari e Melotti, 2009) e dei bambini (STRS-b, Molinari e Melotti, 2009; nomine sociometriche e comportamentali, Caprara e Pastorelli, 1993), mostrando una buona validità convergente. Lo strumento è stato infine utilizzato per confrontare, tramite ANOVA, tre gruppi di madri con diverso livello socioculturale. I risultati mostrano che la maggiore cultura si traduce in maggiori attese e insoddisfazione per la situazione affettiva dei figli

The relationship between teachers and students: Children’s pictorial representation and teachers evaluation

The student-teacher relationship (STR) in a primary school was examined through children’s drawings of a positive and a negative situation and how they related to teachers’ answers both to the Student-Teacher Relationship Scale (STRS) as well as to a School Adaptation Scale (SAS). Drawings were scored with PAIR, an instrument devised to measure Cohesion (psychological relatedness) and Distancing (psychological autonomy) between partners. Cohesion prevailed over Distancing in the drawings of the positive situations, while the opposite happened in the negative situations. The amount of Cohesion and Distancing introduced in the two drawings correlated with some dimensions of the STRS and SAS. A series of hierarchical regressions, in which children’s gender and age were entered at the first step followed by the scores of Cohesion and of Distancing at the second step, showed that children’s pictorial representation of different interpersonal school situations predicted relevant aspects of their relationship with teachers as well as school adaptation

Psicología educativa : revista de los psicólogos de la educación

Resumen basado en el de la publicaciónTítulo, resumen y palabras clave en español e inglésSe utilizaron dibujos de niños para descubrir qué interacción alumno-maestro se representa como positiva o negativa por niños y niñas de diferentes niveles educativos. Además, se explora si existía correspondencia entre las representaciones gráficas de los alumnos y la evaluación realizada por los profesores de su relación con los alumnos. Los participantes fueron 245 alumnos de primaria y sus maestros. Cada niño elaboró dos dibujos (P y N, situación positiva y negativa) de él o ella con su maestro. Las cuatro categorías identificadas en los dibujos fueron analizadas con pruebas no paramétricas. Se confirma la utilidad de los dibujos para entender el punto de vista de los alumnos sobre su interacción con el maestro, demostrando, a su vez, la confluencia de las representaciones gráficas de los niños con el punto de vista de los profesores.ES

Clonal hematopoiesis and myeloid malignancies: clonal dynamics and clinical implications

Purpose of review Clinical and experimental studies have uncovered relevant clinical implications of clonal hematopoiesis. However, the true magnitude of this process, clonal dynamics over time and mechanisms of progression into overt malignancy remain to be largely elucidated. In this article, the consequences of clonal hematopoiesis, its significance in the context of cytopenia, and its implications in the clinical management of patients with myeloid malignancies are reviewed and discussed. Recent findings Clonal hematopoiesis has been associated with higher risk of hematologic cancers, as well as of death from cardiovascular causes. Clonal hematopoiesis has been proven clinically relevant in the context of disorders characterized by peripheral blood cytopenia, including aplastic anemia, cytopenia of undetermined significance, as well as unexplained anemia of the elderly. The available evidence has been proving the utility of somatic mutational analysis in patients with unexplained cytopenia, as well as in those receiving a diagnosis of myeloid neoplasm, enabling more accurate diagnosis, risk assessment, effective therapeutic strategies and residual disease monitoring. The access to a minimally invasive assessment is paving the way for screening programs of clonal hematopoiesis in individuals with absent or mild hematologic phenotype, as well as for therapeutic targeting of preleukemia cells

Co-mutation pattern, clonal hierarchy, and clone size concur to determine disease phenotype of SRSF2 P95-mutated neoplasms

Somatic mutations in splicing factor genes frequently occur in myeloid neoplasms. While SF3B1 mutations are associated with myelodysplastic syndromes (MDS) with ring sideroblasts, SRSF2P95 mutations are found in different disease categories, including MDS, myeloproliferative neoplasms (MPN), myelodysplastic/myeloproliferative neoplasms (MDS/MPN), and acute myeloid leukemia (AML). To identify molecular determinants of this phenotypic heterogeneity, we explored molecular and clinical features of a prospective cohort of 279 SRSF2P95-mutated cases selected from a population of 2663 patients with myeloid neoplasms. Median number of somatic mutations per subject was 3. Multivariate regression analysis showed associations between co-mutated genes and clinical phenotype, including JAK2 or MPL with myelofibrosis (OR = 26.9); TET2 with monocytosis (OR = 5.2); RAS-pathway genes with leukocytosis (OR = 5.1); and STAG2, RUNX1, or IDH1/2 with blast phenotype (MDS or AML) (OR = 3.4, 1.9, and 2.1, respectively). Within patients with SRSF2-JAK2 co-mutation, JAK2 dominance was invariably associated with clinical feature of MPN, whereas SRSF2 mutation was dominant in MDS/MPN. Within patients with SRSF2-TET2 co-mutation, clinical expressivity of monocytosis was positively associated with co-mutated clone size. This study provides evidence that co-mutation pattern, clone size, and hierarchy concur to determine clinical phenotype, tracing relevant genotype-phenotype associations across disease entities and giving insight on unaccountable clinical heterogeneity within current WHO classification categories

Disclosing the Impact of Carcinogenic SF3b Mutations on Pre-mRNA Recognition Via All-Atom Simulations.

The spliceosome accurately promotes precursor messenger-RNA splicing by recognizing specific noncoding intronic tracts including the branch point sequence (BPS) and the 3'-splice-site (3'SS). Mutations of Hsh155 (yeast)/SF3B1 (human), which is a protein of the SF3b factor involved in BPS recognition and induces altered BPS binding and 3'SS selection, lead to mis-spliced mRNA transcripts. Although these mutations recur in hematologic malignancies, the mechanism by which they change gene expression remains unclear. In this study, multi-microsecond-long molecular-dynamics simulations of eighth distinct ∼700,000 atom models of the spliceosome Bact complex, and gene sequencing of SF3B1, disclose that these carcinogenic isoforms destabilize intron binding and/or affect the functional dynamics of Hsh155/SF3B1 only when binding non-consensus BPSs, as opposed to the non-pathogenic variants newly annotated here. This pinpoints a cross-talk between the distal Hsh155 mutation and BPS recognition sites. Our outcomes unprecedentedly contribute to elucidating the principles of pre-mRNA recognition, which provides critical insights on the mechanism underlying constitutive/alternative/aberrant splicing

Over-expression of mitochondrial ferritin affects the JAK2/STAT5 pathway in K562 cells and causes mitochondrial iron accumulation

Mitochondrial ferritin is a nuclear encoded iron-storage protein localized in mitochondria. It has anti-oxidant properties related to its ferroxidase activity, and it is able to sequester iron avidly into the organelle. The protein has a tissue-specific pattern of expression and is also highly expressed in sideroblasts of patients affected by hereditary sideroblastic anemia and by refractory anemia with ringed sideroblasts. The present study examined whether mitochondrial ferritin has a role in the pathogenesis of these diseases.We analyzed the effect of mitochondrial ferritin over-expression on the JAK2/STAT5 pathway, on iron metabolism and on heme synthesis in erythroleukemic cell lines. Furthermore its effect on apoptosis was evaluated on human erythroid progenitors.Data revealed that a high level of mitochondrial ferritin reduced reactive oxygen species and Stat5 phosphorylation while promoting mitochondrial iron loading and cytosolic iron starvation. The decline of Stat5 phosphorylation induced a decrease of the level of anti-apoptotic Bcl-xL transcript compared to that in control cells; however, transferrin receptor 1 transcript increased due to the activation of the iron responsive element/iron regulatory protein machinery. Also, high expression of mitochondrial ferritin increased apoptosis, limited heme synthesis and promoted the formation of Perls-positive granules, identified by electron microscopy as iron granules in mitochondria.Our results provide evidence suggesting that Stat5-dependent transcriptional regulation is displaced by strong cytosolic iron starvation status induced by mitochondrial ferritin. The protein interferes with JAK2/STAT5 pathways and with the mechanism of mitochondrial iron accumulation