Traditional approaches for evaluating the impact of scientific research - mainly scholarship (i.e., publications, presentations) and grant funding - fail to capture the full extent of contributions that come from larger scientific initiatives.
View Article and Find Full Text PDFBackground: Dysmorphology evaluation is important for congenital heart disease (CHD) assessment, but there are no prior investigations quantifying the screening performance compared to standardized genetics evaluations. We investigated this through systematic dysmorphology assessment in CHD patients with standardized genetic testing in primarily pediatric patients with CHD.
Methods: Dysmorphology evaluations preceding genetic testing results allowed us to test for associations between dysmorphic status and genetic diagnoses while adjusting for extracardiac anomalies (ECAs).
Introduction: 5p deletion syndrome, also called Cri-du-chat syndrome 5p is a rare genetic syndrome with reports up to 36% of patients are associated with congenital heart defects. We investigated the association between left outflow tract obstruction and Cri-du-chat syndrome.
Methods: A retrospective review of the abnormal microarray cases with congenital heart defects in Children's Hospital of Pittsburgh and the Cytogenomics of Cardiovascular Malformations Consortium.
Background: The introduction of new drugs that target the Calcitonin Gene-Related Peptide (CGRP) system has provided significant hope for patients with otherwise treatment-resistant migraine, but also resulted in significant capacity issues at the point of delivery, as patients require follow-up at certain timepoints.
Aim: Pilot a patient-completed "follow-up form" (FuF) to replace direct patient contact at the time of 1-year treatment review in patients receiving anti-CGRP (receptor (r)) antibody therapy for chronic migraine.
Methods: Patients with chronic migraine already receiving anti-CGRP(r) antibody therapy and due for 1-year review were contacted by telephone and recruited into the project.