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Browsing by Subject "Syndromes"
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Item Can Multisystem Inflammatory Syndrome in Children Be Managed in the Outpatient Setting? An EHR-Based Cohort Study From the RECOVER Program(Oxford University Press, 2023) Jhaveri, Ravi; Webb, Ryan; Razzaghi, Hanieh; Schuchard, Julia; Mejias, Asuncion; Bennett, Tellen D.; Jone, Pei-Ni; Thacker, Deepika; Schulert, Grant S.; Rogerson, Colin; Cogen, Jonathan D.; Bailey, L. Charles; Forrest, Christopher B.; Lee, Grace M.; Rao, Suchitra; RECOVER consortium; Pediatrics, School of MedicineUsing electronic health record data combined with primary chart review, we identified seven children across nine participant pediatric medical centers with a diagnosis of Multisystem Inflammatory Syndrome in Children (MIS-C) managed exclusively as outpatients. These findings should raise awareness of mild presentations of MIS-C and the option of outpatient management.Item Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morp(Annual Reviews, 2022) Naqvi, Sahin; Hoskens, Hanne; Wilke, Franziska; Weinberg, Seth M.; Shaffer, John R.; Walsh, Susan; Shriver, Mark D.; Wysocka, Joanna; Claes, Peter; Biology, School of ScienceVariations in the form of the human face, which plays a role in our individual identities and societal interactions, have fascinated scientists and artists alike. Here, we review our current understanding of the genetics underlying variation in craniofacial morphology and disease-associated dysmorphology, synthesizing decades of progress on Mendelian syndromes in addition to more recent results from genome-wide association studies of human facial shape and disease risk. We also discuss the various approaches used to phenotype and quantify facial shape, which are of particular importance due to the complex, multipartite nature of the craniofacial form. We close by discussing how experimental studies have contributed and will further contribute to our understanding of human genetic variation and then proposing future directions and applications for the field.