Additional file 5: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

Table S5. Molecular cytogenetic and phenotypic data of patients with likely pathogenic CNVs (50 patients). [del: deletion, dup: duplication, mat: maternal, pat: paternal, NA: not available, LB: likely benign, LP: likely pathogenic; ID: intellectual disability; ASD: autism spectrum disorder; ADHD: attention deficit hyperactivity disorder; NDD: neurodevelopmental disorders; CHD: congenital heart defect]. (XLS 90 kb

Additional file 7: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

Table S7. In silico analysis of single CNVs falling in gene-desert regions. Prediction of the influence of CNVs on topologically associating domains (TADs), discrete genomic regions characterized by a high frequency of self-interaction. The presence of noncoding, potentially regulatory elements and the possible positional effect of alterations are also considered. [lincRNA: long intergenic noncoding RNA; H3K27Ac, H3K4Me1: Histone 3 acetilation/methylation, may indicate active regulatory elements; a across TAD boundary; b within TAD]. (XLS 27 kb

Additional file 2: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

Table S2 Clinical and Phenotypic features of the analyzed sample (293 patients). Total number and percentage as compared to the number of patients for which the single data was available. [ADHD: attention deficit and hyperactivity disorder, ASD: atrial septal defect, CNS: central nervous system, IUGR: intrauterine growth retardation, PDA: patent ductus arteriosus, ToF: Tetralogy of Fallot, VSD: ventral septal defect]. (DOC 90 kb

Additional file 6: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

Table S6. Correlations between clinical and phenotypic features and aCGH results (likely pathogenic VOUS vs likely benign VOUS + negative aCGH). Statistically significant results for likely pathogenic VOUS are reported in bold [n/N, number of cases with positive variable/number of patients with available data on that variable; NA: not applicable; ADHD: Attention deficit and hyperactivity disorder; ASD: atrial septal defect; CNS: central nervous system; CTG: fetal cardiotocography; IUGR: intrauterine growth restriction; PDA: patent ductus arteriosus; PFO: patent foramen ovale; ToF: Tetralogy of Fallot; VSD: interventricular septal defect]. (DOC 170 kb

Additional file 3: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

Table S3. Correlations between clinical and phenotypic features and aCGH results (pathogenic CNVs vs VOUS). Statistically significant results for pathogenic CNVs are reported in bold and significant data for VOUS are reported in italics. [ADHD: Attention deficit and hyperactivity disorder; ASD: atrial septal defect; CNS: central nervous system; CTG: fetal cardiotocography; IUGR: intrauterine growth restriction; PDA: patent ductus arteriosus; PFO: patent foramen ovale; ToF: Tetralogy of Fallot; VSD: interventricular septal defect]. (DOC 163 kb

Additional file 4: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

Table S4. Correlations between clinical and phenotypic features and aCGH results (pathogenic CNVs vs likely pathogenic CNVs vs likely benign CNVs). All statistically significant features are reported in bold. From post-hoc analysis with Bonferroni correction: *Significant in the comparison of pathogenic and likely benign; §Significant in the comparison of pathogenic and likely pathogenic; ¼Significant in the comparison of likely pathogenic and likely benign. [ADHD: Attention deficit and hyperactivity disorder; ASD: atrial septal defect; CNS: central nervous system; CTG: fetal cardiotocography; IUGR: intrauterine growth restriction; PDA: patent ductus arteriosus; PFO: patent foramen ovale; ToF: Tetralogy of Fallot; VSD: ventricular septal defect]. (DOC 194 kb

Additional file 8: of Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

Table S8. Correlations between phenotypical core features and aCGH results (positive aCGH vs negative aCGH). Statistically significant results for negative aCGH are reported in bold; statistically significant results for positive aCGH are reported in bold and italic. [MCA: multiple congenital anomalies; NDD: neurodevelopmental disorders]. (DOC 49 kb

Safety of Preoperative Use of Ticagrelor With or Without Aspirin Compared With Aspirin Alone in Patients With Acute Coronary Syndromes Undergoing Coronary Artery Bypass Grafting.

Importance: The optimal timing of discontinuation of ticagrelor before cardiac surgery is controversial. Objective: To evaluate the safety of preoperative use of ticagrelor with or without aspirin in patients with acute coronary syndromes (ACS) undergoing isolated coronary artery bypass grafting (CABG) compared with aspirin alone. Design, Setting, and Participants: This prospective, multicenter clinical trial was performed at 15 European centers of cardiac surgery. Participants were patients with ACS undergoing isolated CABG from the European Multicenter Study on Coronary Artery Bypass Grafting (E-CABG) registry between January and September 2015. Exposures: Before surgery, patients received ticagrelor with or without aspirin or aspirin alone. Main Outcomes and Measures: Severe bleeding as defined by the Universal Definition of Perioperative Bleeding (UDPB) and E-CABG bleeding classification criteria. A propensity score-matched analysis was performed to adjust for differences in baseline and operative covariates. Results: Of 2482 patients from the E-CABG registry, the study cohort included 786 (31.7%) consecutive patients with ACS (mean [SD] age, 67.1 [9.3] years; range, 32-88 years), and 132 (16.8%) were female. One-to-one propensity score matching provided 215 pairs, whose baseline and operative covariates had a standardized difference of less than 10%. Preoperative use of ticagrelor was associated with a similar risk of bleeding according to the UDPB and E-CABG bleeding classifications, but the incidence of platelet transfusion was higher in the ticagrelor group (13.5% [29 of 215] vs 6.0% [13 of 215]. Compared with those receiving aspirin alone, continuing ticagrelor up to the time of surgery or discontinuing its use less than 2 days before surgery was associated with a higher risk of platelet transfusion (22.7% [5 of 22] vs 6.4% [12 of 187]) and E-CABG bleeding grades 2 and 3 (18.2% [4 of 22] vs 5.9% [11 of 187]) and tended to have an increased risk of UDPB grades 3 and 4 (22.7% [5 of 22] vs 9.6% [18 of 187]). Among patients in whom antiplatelet drug use was discontinued at least 2 days before surgery, the incidence of platelet transfusion was 12.4% (24 of 193) in the ticagrelor group and 3.6% (1 of 28) in the aspirin-alone group. Conclusions and Relevance: In propensity score-matched analyses among patients with ACS undergoing CABG, the use of preoperative ticagrelor with or without aspirin compared with aspirin alone was associated with more platelet transfusion but similar degree of bleeding; in patients receiving ticagrelor 1 day before or up until surgery, there was an increased rate of severe bleeding