Search

Your search keyword '"Gaudio, Daniela del"' showing total 4 results
Start Over Author "Gaudio, Daniela del" Publication Year Range Last 3 years
4 results on '"Gaudio, Daniela del"'

2. Prevalence of incidental germline variants detected via tumor-only mesothelioma genomic profiling

Author

Mitchell, Owen D., primary, Gilliam, Katie, additional, Gaudio, Daniela del, additional, McNeely, Kelsey E., additional, Smith, Shaili, additional, Acevedo, Maria, additional, Gaduraju, Meghana, additional, Hodge, Rachel, additional, Ramsland, Aubrianna S.S., additional, Segal, Jeremy, additional, Das, Soma, additional, Bryan, Darren S., additional, Tawde, Sanjukta, additional, Galasinski, Shelly, additional, Wang, Peng, additional, Tjota, Melissa Y., additional, Husain, Aliya N., additional, Armato, Samuel, additional, Donington, Jessica, additional, Ferguson, Mark K., additional, Turaga, Kiran, additional, Churpek, Jane E., additional, Kindler, Hedy L., additional, and Drazer, Michael W., additional

Published
2022
Full Text
View/download PDF

3. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Author

Rehm, Heidi L, primary, Alaimo, Joseph T, additional, Aradhya, Swaroop, additional, Bayrak-Toydemir, Pinar, additional, Best, Hunter, additional, Brandon, Rhonda, additional, Buchan, Jillian G, additional, Chao, Elizabeth C, additional, Chen, Elaine, additional, Clifford, Jacob, additional, Cohen, Ana S, additional, Conlin, Laura K, additional, Das, Soma, additional, Davis, Kyle W, additional, Gaudio, Daniela del, additional, Viso, Florencia Del, additional, DiVincenzo, Christina, additional, Eisenberg, Marcia, additional, Guidugli, Lucia, additional, Hammer, Monia B, additional, Harrison, Steven M, additional, Hatchell, Kathryn E, additional, Dyer, Lindsay Havens, additional, Hoang, Lily U, additional, Holt, James M, additional, Jobanputra, Vaidehi, additional, Karbassi, Izabela D, additional, Kearney, Hutton M, additional, Kelly, Melissa A, additional, Kelly, Jacob M, additional, Kluge, Michelle L, additional, Komala, Timothy, additional, Kruszka, Paul, additional, Lau, Lynette, additional, Lebo, Matthew S, additional, Marshall, Christian R, additional, McKnight, Dianalee, additional, McWalter, Kirsty, additional, Meng, Yan, additional, Nagan, Narasimhan, additional, Neckelmann, Christian S, additional, Neerman, Nir, additional, Niu, Zhiyv, additional, Paolillo, Vitoria K, additional, Paolucci, Sarah A, additional, Perry, Denise, additional, Pesaran, Tina, additional, Radtke, Kelly, additional, Rasmussen, Kristen J, additional, Retterer, Kyle, additional, Saunders, Carol J, additional, Spiteri, Elizabeth, additional, Stanley, Christine M, additional, Szuto, Anna, additional, Taft, Ryan J, additional, Thiffault, Isabelle, additional, Thomas, Brittany C, additional, Thomas-Wilson, Amanda, additional, Thorpe, Erin, additional, Tidwell, Timothy J, additional, Towne, Meghan C, additional, and Zouk, Hana, additional

Published
2022
Full Text
View/download PDF

4. Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO.

Author

Salguero, Maria V, Chan, Karen, Greeley, Siri Atma W, Dyamenahalli, Umesh, Waggoner, Darrel, Gaudio, Daniela del, Rajiyah, Tara, and Lemelman, Michelle

Subjects
PULMONARY hypertension, DEGLUTITION, HYPOGLYCEMIA, THORACIC aorta, CONGENITAL heart disease, EXTRACORPOREAL membrane oxygenation, HYPOPLASTIC left heart syndrome
Abstract

Kabuki syndrome (KS) is a multisystem disorder estimated to occur in 1:32 000 newborns. Pathogenic mutations cause the majority but not all cases of KS in either KMT2D or KDM6A. KS can be suspected by phenotypic features, including infantile hypotonia, developmental delay, dysmorphic features, congenital heart defects, and others. Still, many of these features are not readily apparent in a newborn. Although neonatal hypoglycemia has been reported in 8% to 10% of patients with KS, the incidence and severity of hyperinsulinemic hypoglycemia (HH) is not well-studied. We present a full-term female infant with HH who was responsive to low-dose diazoxide. At 3 months of age, she was admitted for septic shock, worsening respiratory status, and severe pulmonary hypertension, requiring extracorporeal membrane oxygenation support. Her neonatal history was notable for hypotonia, dysphagia with aspiration requiring gastrostomy tube placement, and a cardiac defect—hypoplastic aortic arch requiring aortic arch repair. She has characteristic facial features, including prominent eyelashes, long palpebral fissures, and a short nasal columella. Next-generation sequencing for HH revealed a de novo likely pathogenic missense variant in KDM6A gene: c.3479G > T, p.Gly1160Val that was absent from population databases. Genetic testing for causes of HH should include testing of the KS genes KMT2D and KDM6A. Early detection of the underlying genetic defect will help guide management as all reported HH cases associated with KS have been responsive to diazoxide. Affected infants with underlying cardiac conditions may be at higher risk of serious respiratory complications such as pulmonary hypertension. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results