4 research outputs found
Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching
AbstractOBJECTIVESThe purpose of this study was to determine the frequency of chromosome 22q11 deletions in patients with isolated anomalies of the aortic arch and its branches.BACKGROUNDChromosome 22q11 deletions are often present in patients with certain forms of congenital cardiovascular disease, including tetralogy of Fallot, truncus arteriosus and interruption of the aortic arch. Among patients with these anomalies, chromosome 22q11 deletion is more common in those with abnormal aortic arch laterality or branching.METHODSWe studied 66 patients with isolated anomalies of the aortic arch and no associated intracardiac defects for deletions within chromosome 22q11, using fluorescence in situ hybridization with the cosmid probe N25 (D22S75). Arch anomalies included: double aortic arch (n = 22); right aortic arch with aberrant left subclavian artery (n = 28); right aortic arch with mirror-image branching and a vascular ring formed by a left-sided ductus from the descending aorta (n = 5); right aortic arch with mirror-image branching and no vascular ring (n = 4); and left aortic arch with aberrant right subclavian artery (n = 7). In addition, four patients had a cervical aortic arch, four had aortic coarctation and six had hypoplasia/atresia of the proximal pulmonary arteries.RESULTSChromosome 22q11 deletions were found in 16 patients (24%) across the full spectrum of anomalies studied. Among the morphologic variables analyzed, only hypoplasia/atresia of the proximal pulmonary arteries correlated with the deletion (p = 0.03). Among patients with a double arch, the frequency of chromosome 22q11 deletion was higher in those with an atretic minor arch than it was in those with a patent minor arch (p = 0.02).CONCLUSIONSChromosome 22q11 deletion is associated with isolated anomalies of laterality or branching of the aortic arch in 24% of cases in our series. These findings should alert the clinician to consider deletion screening in patients with isolated anomalies of the aortic arch
Considering the impact of StudentSurvey.ie nationally and internationally after nine years of the survey
In this short article, the StudentSurvey.ie Steering Group offers some observations about the development of the Irish Survey of Student Engagement since its inception in 2012. The article also considers what impact means for StudentSurvey.ie, before discussing some of the ways in which the results of StudentSurvey.ie (and PGR StudentSurey.ie) have had impact nationally and internationally. One way is the inclusion of StudentSurvey.ie in national quality assurance reviews, which has highlighted some of the opportunities and challenges in demonstrating the impact of StudentSurvey.ie within participating institutions. The publication of this article coincides with the publication of the StudentSurvey.ie Trend Analysis Research 2016-2021, which is briefly discussed. Some final remarks are offered