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- Epidemiology of Pierre‐Robin sequence in Europe: A population‐based EUROCAT studyPublication . Santoro, Michele; Coi, Alessio; Barišić, Ingeborg; Pierini, Anna; Addor, Marie‐Claude; Baldacci, Silvia; Ballardini, Elisa; Boban, Ljubica; Braz, Paula; Cavero‐Carbonell, Clara; Walle, Hermien E.K.; Draper, Elizabeth S.; Gatt, Miriam; Haeusler, Martin; Klungsøyr, Kari; Kurinczuk, Jennifer J.; Materna‐Kiryluk, Anna; Lanzoni, Monica; Lelong, Nathalie; Luyt, Karen; Mokoroa, Olatz; Mullaney, Carmel; Nelen, Vera; O’Mahony, Mary T.; Perthus, Isabelle; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Schaub, Bruno; Tucker, David; Wellesley, Diana; Zymak‐Zakutnia, Nataliia; Garne, EsterBackground: Pierre Robin sequence (PRS) is a rare congenital anomaly. Respiratory disorders and feeding difficulties represent the main burden. Objective: The aim of this study was to investigate the epidemiology of PRS using a cohort of cases from EUROCAT, the European network of population-based registries of congenital anomalies. Methods: We analysed cases of PRS born in the period 1998-2017 collected by 29 population-based congenital anomaly registries in 17 different countries. We calculated prevalence estimates, prenatal detection rate, survival up to 1 week, and proportions of associated anomalies. The effect of maternal age was tested using a Poisson regression model. Results: Out of 11 669 155 surveyed births, a total of 1294 cases of PRS were identified. The estimate of the overall prevalence was 12.0 per 100 000 births (95% CI 9.9, 14.5). There was a total of 882 (68.2%) isolated cases, and the prevalence was 7.8 per 100 000 births (95% CI 6.7, 9.2). A total of 250 cases (19.3%) were associated with other structural congenital anomalies, 77 cases (6.0%) were associated with chromosomal anomalies and 77 (6.0%) with genetic syndromes. The prenatal detection rate in isolated cases was 12.0% (95% CI 9.8, 14.5) and increased to 16.0% (95% CI 12.7, 19.7) in the sub-period 2008-2017. The prevalence rate ratio of non-chromosomal cases with maternal age ≥35 was higher than in cases with maternal age <25 for total (PRR 1.26, 95% CI 1.05, 1.51) and isolated cases (PRR 1.33, 95% CI 1.00, 1.64). Survival of chromosomal cases (94.2%) and multiple anomaly cases (95.3%) were lower than survival of isolated cases (99.4%). Conclusions: This epidemiological study using a large series of cases of PRS provides insights into the epidemiological profile of PRS in Europe. We observed an association with higher maternal age, but further investigations are needed to test potential risk factors for PRS.
- Changes in the human genome and epigenome induced by nanomaterialsPublication . Ventura, Célia; Vieira, Luís; Louro, Henriqueta; Silva, Maria JoãoHumans are continuously exposed to environmental toxicants that can have an impact in their health. In the last years, several engineered nanomaterials have been incrementally incorporated in a variety of consumer products, and a major public health concern is that nanoscale materials acquire new properties that may elicit human adverse health effects. For instance, several in vivo toxicological studies have shown that nanomaterials as titanium dioxide nanoparticles, nanocellulose or multi-walled carbon nanotubes (MWCNT) may cause pulmonary adverse effects upon inhalation. Nanotoxicology is a challenging field that studies nanomaterials toxicity, which include the assessment of their potential to induce changes in the genome. Some examples of this assessment, using alveolar epithelial human cells and two toxicological assays, the comet assay and the micronucleus assay, which detect double-strand breaks or aneugenic/clastogenic effects, respectively, will be presented. Moreover, recently, some nanomaterials have also demonstrated to cause epigenomic changes, namely, altered DNA methylation or microRNA expression patterns. An epigenomics study, using next generation sequencing, will also be presented. In this study, a profile of differentially expressed miRNAs was identified in the same pulmonary cells after exposure to an occupationally relevant dose of a MWCNT (MWCNT-7). These differently expressed miRNAs indicated some of the molecular mechanisms of action of MWCNT-7. Moreover, miRNA profiling may be explored as a biomarker for monitoring human exposure. Overall, these findings highlight the carcinogenic potential of some nanomaterials and indicate the need of understanding their potential adverse effects to develop effective risk management practices and exclude or reduce the use of hazardous nanomaterials.