REDISCOVERING CULTURAL HERITAGE SITES BY INTERACTIVE 3D EXPLORATION: A PRACTICAL REVIEW OF OPEN-SOURCE WEBGL TOOLS

Georeferenced reconstructions can help understand the dynamic evolution of the urban context surrounding a historical site, supporting decision-making processes in the field of urban planning. The development of web applications that allow the interaction between 2D and 3D products, as well as their exploration, can facilitate virtual inspections and foster collaboration in digitization of interventions and site evolutions over time. The article discusses how virtual scene reconstructions and visits can provide alternatives to traditional in-situ tourism promotion, through digital storytelling solutions for the exploration of sites. The article also describes how 3D storytelling technologies are currently being used for dissemination cultural heritage sites. The case study of the Castello Farnese, an old XVI century heritage site in Piacenza (Italy), test the adoption of two distinct free and open-source JavaScript WebGL, Potree and Cesium, for the rendering of photogrammetric and laser scanning georeferenced scaled products and for the integration of narrative features such as annotations, camera animations, texts, and other multimedia contents. Potentials and limitations of both tools are discussed in detail, highlighting how they can be implemented for enhancing user experience in virtual tour and exploration of 3D products. In order to guarantee replicability for other case studies, source code of the implemented application is shared on GitHub along with its documentation for contributions

A Knowledge, Attitude, and Perception Study on Flu and COVID-19 Vaccination during the COVID-19 Pandemic: Multicentric Italian Survey Insights

In January 2020, Chinese health authorities identified a novel coronavirus strain never before isolated in humans. It quickly spread across the world, and was eventually declared a pandemic, leading to about 310 million confirmed cases and to 5,497,113 deaths (data as of 11 January 2022). Influenza viruses affect millions of people during cold seasons, with high impacts, in terms of mortality and morbidity. Patients with comorbidities are at a higher risk of acquiring severe problems due to COVID-19 and the flu-infections that could impact their underlying clinical conditions. In the present study, knowledge, attitudes, and opinions of the general population regarding COVID-19 and influenza immunization were evaluated. A multicenter, web-based, cross-sectional study was conducted between 10 February and 12 July 2020, during the first wave of SARS-CoV-2 infections among the general population in Italy. A sample of 4116 questionnaires was collected at the end of the study period. Overall, 17.5% of respondents stated that it was unlikely that they would accept a future COVID-19 vaccine (n = 720). Reasons behind vaccine refusal/indecision were mainly a lack of trust in the vaccine (41.1%), the fear of side effects (23.4%), or a lack of perception of susceptibility to the disease (17.1%). More than 50% (53.8%; n = 2214) of the sample participants were willing to receive flu vaccinations in the forthcoming vaccination campaign, but only 28.2% of cases had received it at least once in the previous five seasons. A higher knowledge score about SARS-CoV-2/COVID-19 and at least one flu vaccination during previous influenza seasons were significantly associated with the intention to be vaccinated against COVID-19 and influenza. The continuous study of factors, determining vaccination acceptance and hesitancy, is fundamental in the current context, in regard to improve vaccination confidence and adherence rates against vaccine preventable diseases

De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s

The 15q11-q13 region is characterized by high instability, caused by the presence of several paralogous segmental duplications. Although most mechanisms dealing with cryptic deletions and amplifications have been at least partly characterized, little is known about the rare translocations involving this region. We characterized at the molecular level five unbalanced translocations, including a jumping one, having most of 15q transposed to the end of another chromosome, whereas the der(15)(pter->q11-q13) was missing. Imbalances were associated either with Prader-Willi or Angelman syndrome. Array-CGH demonstrated the absence of any copy number changes in the recipient chromosome in three cases, while one carried a cryptic terminal deletion and another a large terminal deletion, already diagnosed by classical cytogenetics. We cloned the breakpoint junctions in two cases, whereas cloning was impaired by complex regional genomic architecture and mosaicism in the others. Our results strongly indicate that some of our translocations originated through a prezygotic/postzygotic two-hit mechanism starting with the formation of an acentric 15qter->q1::q1->qter representing the reciprocal product of the inv dup(15) supernumerary marker chromosome. An embryo with such an acentric chromosome plus a normal chromosome 15 inherited from the other parent could survive only if partial trisomy 15 rescue would occur through elimination of part of the acentric chromosome, stabilization of the remaining portion with telomere capture, and formation of a derivative chromosome. All these events likely do not happen concurrently in a single cell but are rather the result of successive stabilization attempts occurring in different cells of which only the fittest will finally survive. Accordingly, jumping translocations might represent successful rescue attempts in different cells rather than transfer of the same 15q portion to different chromosomes. We also hypothesize that neocentromerization of the original acentric chromosome during early embryogenesis may be required to avoid its loss before cell survival is finally assured

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS.MethodsIn a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations.ResultsAll anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations.ConclusionKnowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.GENETICS in MEDICINE advance online publication, 4 January 2018; doi:10.1038/gim.2017.221

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Purpose: Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype–phenotype correlations of MWS. Methods: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations. Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluati

Risk of congenital anomalies around a municipal solid waste incinerator

Waste incineration releases into the environment toxic substances having a teratogenic potential, but little epidemiologic evidence is available on this topic. We aimed at examining the relation between exposure to the emissions from a municipal solid waste incinerator (MSWI) and risk of birth defects in a northern Italy community, using geographical information system (GIS) data to estimate exposure and a population-based case-control study design. By modeling the incinerator emissions, we defined in the GIS three areas of increasing exposure according to predicted dioxins concentrations. We mapped the 228 births and induced abortions with diagnosis of congenital anomalies observed during the 1998-2006 period, together with a corresponding series of control births matched for year and hospital of birth/abortion as well as maternal age, using maternal address in the first 3 months of pregnancy to geocode cases and controls

Programma di sorveglianza sanitaria della popolazione limitrofa all’inceneritore per rifiuti solidi urbani di Modena: risultati relativi alle malformazioni congenite.

Obiettivi: Nell’ambito del programma denominato “Sorveglianza sanitaria della popolazione modenese esposta alle emissioni dell’inceneritore per rifiuti solidi urbani”, condotto dal Dipartimento di Scienze di Sanità Pubblica dell’Università di Modena e Reggio Emilia in ottemperanza ad una direttiva della Conferenza dei Servizi della Provincia di Modena, abbiamo preso in esame il rischio di prevalenza alla nascita di malformazioni congenite nella progenie delle donne residenti o svolgenti attività professionale in prossimità dell’impianto di incenerimento.Metodi: Abbiamo analizzato nel periodo 2003-05 la prevalenza di malformazioni congenite nei nati da donne esposte alle emissioni dell’inceneritore per rifiuti solidi urbani di Modena. Abbiano a tal fine suddiviso il territorio comunale in tre aree, in base alla stima di concentrazione in atmosfera e ricaduta al suolo dei maggiori contaminanti emessi dall’inceneritore. Abbiamo quindi individuato le malformazioni congenite verificatesi nei nati dalle donne residenti all’interno di tali aree o in esse aventi la propria sede lavorativa, calcolando i rischi relativi nelle diverse coorti espositive ed esaminando la distribuzione dei casi osservati mediante analisi GIS (Geographical Information System).Risultati: Abbiamo osservato quattro casi di malformazione tra i nati da madre residente in prossimità dell’inceneritore (tutte appartenenti alla coorte ad esposizione ‘intermedia’). Il rischio relativo di malformazione, utilizzando la prevalenza nella rimanente popolazione comunale quale riferimento, è risultato essere nell’intera coorte di residenti esposte 0,79 (intervallo di confidenza al 95% 0,25-1,91), nella coorte più prossima all’inceneritore 0,00 (0,00-6,37) e nella coorte ad esposizione intermedia 0,88 (0,28-2,11). I corrispondenti valori nelle coorti delle lavoratrici, dove si sono verificati due parti di bambini malformati per i quali non abbiamo ancora indagato eventuali rischi specifici, sono risultati pari a 1,92 (0,32-6,35), 1,37 (0,07-6,76) e 3,13 (0,16-15,41).Conclusioni: Questi risultati non suggeriscono che l’esposizione all’inceneritore per rifiuti solidi urbani di Modena abbia indotto nel triennio considerato incrementi di rilievo del rischio teratogeno

Adverse pregnancy outcomes in a population exposed to the emissions of a municipal waste incinerator

Some contaminants emitted by municipal waste incinerators are believed to adversely affect reproductive health in the exposed populations; yet only limited and conflicting epidemiologic evidence on this issue has been provided so far. In this study we analyzed rates of spontaneous abortion and prevalence at birth of congenital anomalies in women residing or working near the municipal solid waste incinerator of Modena, northern Italy, during the 2003--2006 period and who experienced higher levels of exposure to polychlorinated dibenzo-p-dioxins and dibenzofurans, compared to the remaining municipal population. In women residing in two areas close to the incinerator plant with increasing exposure to dioxins, we did not detect an excess risk of miscarriage (relative risk [RR] 1.00, 95% confidence interval [CI] 0.65-1.48) and of birth defects (RR 0.64, 95% CI 0.20-1.55), nor did any indication of dose-response relation emerge. Among female workers employed in the factories located in the exposed areas, we did not observe a higher risk of spontaneous abortion (RR 1.04, 95% CI 0.38-2.30); however, an increase in prevalence of birth defects was noted (RR 2.26), although this risk estimate was statistically very unstable (95% CI 0.57-6.14). Overall, the study results provide little evidence of an excess risk of adverse pregnancy outcomes in women exposed to emissions from a modern municipal solid waste incinerator

Congenital heart defects: 15 years of experience of the Emilia-Romagna Registry (Italy)

OBJECTIVES: Collection and assessment of data from the Emilia-Romagna Region on the occurrence of congenital heart defects in order to identify an homogeneous group of patients for further aetiologic and genetic studies. MATERIALS AND METHODS: The present study is based on 1549 stillborn and live born babies affected by congenital heart defect out of 330,017 consecutive births (4.7 per 1000). RESULTS: The frequency and type of congenital heart defects have been identified together with the sex ratio, associated extracardiac anomalies, chromosomal anomalies and the risk of precurrence in relatives. The impact of prenatal diagnosis on prevalence was low during the study period. CONCLUSIONS: The study has provided epidemiological data for public health surveillance of congenital heart defects in the Emilia-Romagna region. The creation of a system for the nationwide recording of congenital heart defects designed with regard to the sources of ascertainment, the diagnostic criteria, and the system of classification is emphasised