Stability of circulating miRNA in saliva: The influence of sample associated pre-analytical variables

Background and aims: Increasing evidence supports the practicability of salivary cell-free (cf) miRNA as liquid biopsy markers in cancers. Its successful translation in the clinical setting requires reproducible approaches for saliva manipulation, in order to control for pre-analytical variables influencing miRNA stability. This study aims to define the optimal conditions to maintain the integrity of saliva during collection, transport and processing with respect to cf-miRNA quantification. Materials and methods: Saliva was collected from 20 healthy subjects and 8 oral cancer patients. Two sampling methods were tested and different storage temperatures and times were evaluated. Salivary expression level of target miRNAs was quantified by qPCR. Comparison between group mean values at specific conditions were performed using paired t-tests. Agreement between measurements was evaluated using a Bland-Altman plot. Results: Different collection methods revealed comparable levels of salivary miR-484 and miR-106b-5p in both subject cohorts. MiRNAs were stable for up to 48 h at 4 °C in saliva supernatant, showing significant alteration after 96 h. Mid-term storage of supernatant at -20 °C decreased miRNA stability significantly compared to standard -80 °C. Conclusions: Cf-miRNA in saliva were slightly altered by collection methods and storage conditions, both in healthy and in pathological contexts, and remained stable for a period of time compatible with main clinical routine needs

Ecosistemi per la ricerca Atti Convegno ACNP/NILDE. Trieste, 22-23 maggio 2014

Il secondo convegno congiunto ACNP / NILDE: ecosistemi per la ricerca è stato ospitato dal 22 al 23 maggio 2014 dall’Università di Trieste. Sono stati affrontati in un’ottica internazionale i temi del rapporto tra cataloghi collettivi e servizi interbibliotecari, e il più generale ambito dei servizi bibliografici per la ricerca scientifica. ACNP e NILDE possono essere considerati un vero e proprio ecosistema. Le biblioteche e i bibliotecari collaborano tra di loro in maniera reciproca e secondo modalità interconnesse, offrendo agli utenti servizi sempre più evoluti e dinamici. Questo ecosistema, essendo aperto, mette i propri servizi a disposizione della ricerca scientifica in senso generale. Il convegno di Trieste ha offerto l’occasione di investigare e proporre soluzioni innovative, interconnessioni e relazioni nuove e più proficue

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association

Background: Down syndrome (DS) is caused by the presence of an extra copy of full or partial human chromosome 21 (Hsa21). Partial (segmental) trisomy 21 (PT21) is the duplication of only a delimited region of Hsa21 and can be associated or not to DS: the study of PT21 cases is an invaluable model for addressing genotype-phenotype correlation in DS. Previous works reported systematic reanalyses of 132 subjects with PT21 and allowed the identification of a 34-kb highly restricted DS critical region (HR-DSCR) as the minimal region whose duplication is shared by all PT21 subjects diagnosed with DS. Methods: We report clinical data and cytogenetic analysis of two children with PT21, one with DS and the other without DS. Moreover, we performed a systematic bibliographic search for any new PT21 report. Results: Clinical and cytogenetic analyses of the two PT21 children have been reported: in Case 1 the duplication involves the whole long arm of Hsa21, except for the last 2.7 Mb, which are deleted as a consequence of an isodicentric 21: the HR-DSCR is within the duplicated regions and the child is diagnosed with DS. In Case 2 the duplication involves 7.1 Mb of distal 21q22, with a deletion of 2.1 Mb of proximal 20p, as a consequence of an unbalanced translocation: the HR-DSCR is not duplicated and the child presents with psychomotor development delay but no clinical signs of DS. Furthermore, two PT21 reports recently published (named Case 3 and 4) have been discussed: Case 3 has DS diagnosis, nearly full trisomy for Hsa21 and a monosomy for the 21q22.3 region. Case 4 is a baby without DS and a 0.56-Mb duplication of 21q22.3. Genotype-phenotype correlation confirmed the presence of three copies of the HR-DSCR in all DS subjects and two copies in all non-DS individuals. Conclusions: The results presented here are fully consistent with the hypothesis that the HR-DSCR is critically associated with DS diagnosis. No exception to this pathogenetic model was found. Further studies are needed to detect genetic determinants likely located in the HR-DSCR and possibly responsible for core DS features, in particular intellectual disability

Impatto della pertosse nella popolazione e strategie di prevenzione vaccinale

L'impatto epidemiologico della pertosse ha subito variazioni rilevanti soprattutto in et\ue0 pedia-trica, in seguito alla disponibilit\ue0 di vaccini cellulari altamente efficaci e alla successiva dif-fusione di preparati acellulari, caratterizzati da un migliore profilo di tollerabilit\ue0 e formulati in combinazione con altre componenti antigeniche. Cionondimeno, la pertosse rappresenta tutt\u2019oggi un\u2019importante causa di morbosit\ue0 e mortalit\ue0 nei neonati non ancora vaccinati o che non hanno completato il ciclo primario, e che possono essere infettati dai contatti suscettibili. Le coperture vaccinali sub-ottimali, la progressiva riduzione della protezione immunitaria conferita sia dall\u2019infezione naturale sia dalla vaccinazione e la mancata effettuazione dei richiami vaccinali contribuiscono, infatti, a rendere gli adolescenti e gli adulti le fonti princi-pali di trasmissione dell'infezione ai neonati. Strategie di prevenzione integrate e indirizzate a tutti i target coinvolti nella trasmissione dell'infezione (i.e. soggetti in et\ue0 pediatrica, ado-lescente e adulta, le donne in gravidanza, e gli operatori sanitari) rappresentano, pertanto, uno strumento chiave per il controllo della pertosse

Weight of risk factors for mortality and short-term mortality displacement during the COVID-19 pandemic.

Background: We conducted a population-based cohort study to estimate mortality before, during and after the COVID-19 peak and to compare mortality in 2020 with rates reported in previous years, with a view to helping decision makers to apply containment measures for high-risk groups. Methods: All deaths were collected between 2015 and 2020 from municipal registry database. In 2020, weeks 1-26 were stratified in three periods: before, during and after the COVID mortality peak. The Poisson Generalized Linear regression Model showed the “harvesting effect”. Three logistic regressions for 8 dependent variables (age and comorbidities) and a t-test of  differences described all-cause mortality risk factors in 2019 and 2020 and differences between COVID and non-COVID patients. Results: A total of 47,876 deaths were collected. All-cause deaths increased by 38.5% during the COVID peak and decreased by 18% during the post-peak period in comparison with the average registered during the control period (2015-19), with significant mortality displacement in 2020. Except for chronic renal injuries in subjects aged 45-64 years, diabetes and chronic cardiovascular diseases in those aged 65-84 years, and neuropathies in those aged >84 years, the weight of comorbidities in deaths was similar or lower in COVID subjects than in non-COVID subjects. Discussions: Surprisingly, the weight of comorbidities in death, compared to weight in non-COVID subjects allows you to highlight some surprising results such as COPD, IBD and Cancer. The excess mortality that we observed in the entire period were modest in comparison with initial estimates during the peak, owing to the mild influenza season and the harvesting effect starting from the second half of May.   &nbsp

Distributional records of Ross Sea (Antarctica) Tanaidacea from museum samples stored in the collections of the Italian National Antarctic Museum (MNA) and the New Zealand National Institute of Water and Atmospheric Research (NIWA)

Here we present distributional records for Tanaidacea specimens collected during several Antarctic expeditions to the Ross Sea: the Italian PNRA expeditions (“V”, 1989/1990; “XI”, 1995/1996; “XIV”, 1998/1999; “XIX”, 2003/2004; “XXV”, 2009/2010) and the New Zealand historical (New Zealand Oceanographic Institute, NZOI, 1958-1961) and recent (“TAN0402 BIOROSS” voyage, 2004 and “TAN0802 IPY-CAML Oceans Survey 20/20” voyage, 2008) expeditions. Tanaidaceans were obtained from bottom samples collected at depths ranging from 16 to 3543 m by using a variety of sampling gears. On the whole, this contribution reports distributional data for a total of 2953 individuals belonging to 33 genera and 50 species. All vouchers are permanently stored in the Italian National Antarctic Museum collection (MNA), Section of Genoa (Italy) and at the National Institute of Water and Atmospheric Research (NIWA Invertebrate Collection), Wellington (New Zealand).The tanaidaceans were collected during different Italian and New Zealand research expeditions to the Ross Sea funded by the Italian National Antarctic Research Program (PNRA) and the New Zealand Government, the Ministry for Primary Industries (formerly the Ministry of Fisheries) and the Ocean Survey 20/20 CAML Advisory Group, listed below: Italian PNRA Project 3.2.1 (Oceanography) (“V” expedition, 1989/1990, R/V “Malippo”). Italian PNRA Project 2a and 2d.2 (Ecology and Biogeochemistry of the Southern Ocean) (“XI” expedition, 1995/1996, R/V “Italica”). Italian PNRA Project 2b.3 (Ecology and Biogeochemistry of the Southern Ocean) (“XIV” expedition, 1998/1999, R/V “Malippo”). Italian PNRA Project Program 2002/8.6 (“The costal ecosystem of Victoria Land coast: distribution and structure along the latitudinal gradient”) (“XIX” expedition, 2003/2004, R/V “Italica” 2004). Italian PNRA Project 2006/08.01 (“The coastal ecosystem of Terra Nova Bay” in the Latitudinal Gradient Program (LGP)) (“XXV” expedition, 2009/2010). The Ross Sea Endeavour surveys (1958-59 and 1959-60, HMNZS “Endeavour II” and 1960–1961, “Endeavour III”) conducted by the New Zealand Oceanographic Institute (NZOI, now NIWA) – founded by the New Zealand government. New Zealand BIOROSS voyage (TAN0402, 2004, R/V “Tangaroa”) – funded by NIWA and the New Zealand Ministry of Primary Industries (formerly the Ministry of Fisheries). New Zealand IPY-CAML voyage (TAN0802, 2008, R/V “Tangaroa”) – Census of Antarctic Marine Life programme – funded by the Government of New Zealand and administered by the Ocean Survey 20/20 CAML Advisor Group (Land Information New Zealand and the Ministry of Fisheries, Antarctica New Zealand, Ministry of Foreign Affairs and Trade and NIWA). We would like to acknowledge the Italian National Antarctic Program (PNRA) for funding and logistic support of the scientific expeditions. The TAN0402 BIOROSS” voyage (2004) was undertaken by the National Institute of Water & Atmospheric Research and financed by the former New Zealand Ministry of Fisheries. The “TAN0802 IPY-CAML Oceans Survey 20/20” voyage (2008) was funded by the New Zealand Government under the New Zealand International Polar Year Census of Antarctic Marine Life Project. We gratefully acknowledge project governance provided by the Ministry of Fisheries Science Team and the Ocean Survey 20/20 CAML Advisory Group (Land Information New Zealand, Ministry for Primary Industries (Fisheries), Antarctica New Zealand, Ministry of Foreign Affairs and Trade, and National Institute of Water and Atmospheric Research)

Burden and prevention of HPV. Knowledge, Practices and Attitude Assessment Among Pre-adolescents and their Parents in Italy

Despite infections due to HPV nowadays represent the most common sexually transmitted diseases worldwide with recognized effective and safe preventive strategies, knowledge, attitudes; however, awareness on HPV is considerably low. The present study has two main objectives: 1. To conduct a literature review to analyze the evolution of preventive tools, the complexity of the vaccine choice process, and the challenges posed by HPV vaccine hesitancy and refusal among pre-adolescents and their parents; 2. To assess knowledge, practices and attitudes toward HPV infection and vaccination in a sample of Italian pre-adolescents and their parents. The observational study was carried out through the use of two anonymous and self-administered pre- and post-intervention questionnaires dedicated to the target populations. Between the administrations of the pre- and post-intervention questionnaires, an educational intervention on ITV infection and related diseases, and prevention strategies was conducted. All participants demonstrated suboptimal knowledge and positive attitudes in the pre-intervention questionnaire. Higher levels of knowledge and attitudes were observed among pre-adolescents thatused social networks and had heard of sexually transmitted diseases at home/school/physician and from parents and also who had heard of HPV from General Practitioners, Gynecologists, family members and newspapers. A significant increase in HPV vaccination awareness was observed among pre-adolescents after the educational sessions. Health education programs aimed at increasing knowledge, attitudes and awareness on HPV are needed to implement the outcomes of HPV immunization programs, especially if supported by the physicians involved in counselling and recommendation processes