Longitudinal Choroidal Development in Preterm Infants

Autor: Suzanne M. Michalak, MD, Shwetha Mangalesh, MBBS, Yineng Chen, MS, Liangbo L. Shen, MD, Vincent Tai, MS, Katrina Winter, BS, Neeru Sarin, MD, Gui-shuang Ying, PhD, Cynthia A. Toth, MD, Lejla Vajzovic, MD, Xi Chen, MD, PhD, Charles M. Cotten, MD, Mays Antioine El-Dairi, MD, Sina Farsiu, PhD, Sharon Freedman, MD, Hesham Gabr, MD, Sara Grace, MD, Kathryn E. Gustafson, PhD, Madja Hadziahmetovic, MD, Joseph Izatt, PhD, Ramiro Maldonado, MD, Suzanne Michalak, MD, Matthew O’Sullivan, MD, Sally Ong, MD, Miroslav Pajik, PhD, Carolyn Pizoli, MD, S. Grace Prakalapakorn, MD, Joan Roberts, MD, Alabi Rolake, MD, Cynthia Toth, MD, Nita Valikodath, MD, Christian Viehland, PhD, David Wallace, MD, Xiao Yi Zhou, MD, Michelle McCall, BA, MCAPM, Joanne Finkle, RN, JD, Neeru Sarin, MBBS, Alexandria Dandridge, Ryan Imperio, BS, William Raynor, BS, Du Tran-Viet, BS, Stephanie Chiu, PhD, Heena Divecha, MS, Katrina P. Winter, BS, Kimberly Fisher, PhD, FMP-BC, Lacey Andrews, BS, Melissa Babilonia-Rosa, PhD, Anne Baez Love, BS, Lucy DeStefano-Pearce, MA, Jessicka Hamilton, BA, Grace Jefferson, MS, Amanda Marion, BS, Isabella Pallotto, MPH, Marito Passero, BS, Caitlin Stone, MA, Michelle Sunico, BS, Caelan Eckard, BSE, Karthik Ganesan, BS, Xiao Tang, MS, Kira Wang, BA, Brittany Wong, BS, Mark Draelos, MD, PhD, Francesco LaRocca, BS, MS, PhD, Amit Narawane, BSE, Qitong Gao, MS, Isaac Bleicher, MD, Pujan Patel, BS, Jay Rathinavelu, BSE, Kai Seely, MD, MHS, Mason Seely, BS, Maureen G. Maguire, PhD, Gui-Shuang Ying, PhD, Brendan McGeehan, MS, Joshua Shimony, MD, PhD, Dimitrios Alexopoulos, MS, Sydney Kaplan, BS, Jeanette Kenley, BS, Kayla Hannon, BS, Brian P. Smith, MD, MPH, MHS, Michael O’Shea, MD, MPH, Subashri Kurgatt, PhD, Daniel X. Hammer, PhD, William Good, MD.

Publikováno v: Ophthalmology Science, Vol 4, Iss 1, Pp 100359- (2024)

Purpose: To characterize changes in subfoveal choroidal thickness in preterm infants from 30 to 60 weeks' postmenstrual age (PMA). Design: The prospective, observational Study of Eye Imaging in Preterm infantS (BabySTEPS) enrolled infants eligible fo

Externí odkaz: https://doaj.org/article/c16a06c64ae24db98852f5b0c35f88a4

Subclinical Retinal versus Brain Findings in Infants with Hypoxic Ischemic Encephalopathy

Autor: Joanne Finkle, Laura F. Edwards, Du Tran-Viet, Vincent Tai, Xi Chen, Christian Viehland, Carolyn Pizoli, Shwetha Mangalesh, Cynthia A. Toth, Sharon F. Freedman, Mays A. El-Dairi

Publikováno v: Graefes Arch Clin Exp Ophthalmol

PURPOSE: To detect retinal features and abnormalities on optical coherence tomography (OCT) without pupil dilation and relate these to brain injury in infants with a clinical diagnosis of hypoxic ischemic encephalopathy (HIE). METHODS: Under an insti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a73c16cfe876630634b72c18b0acb61b
https://doi.org/10.1007/s00417-020-04738-0

Hypersomnolence in a 17-year-old Boy

Autor: Laura Cannon, Carolyn Pizoli, Heather Van Mater

Publikováno v: Pediatrics in review. 42(Suppl 1)

1. Laura Cannon, MD* 2. Heather Van Mater, MD, MS* 3. Carolyn Pizoli, MD, PhD* 1. *Duke Children’s Hospital, Durham, NC 1. Address correspondence to Laura Cannon, MD, Division of Pediatric Rheumatology, Department of Pediatrics, Duke Children’s H

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63814e472c58b92802a009c827e1ddaf
https://pubmed.ncbi.nlm.nih.gov/33386370

Epilepsy in neurofibromatosis type 1

Autor: Roger E. McLendon, Mohamad A. Mikati, Eric Arehart, Rodney A. Radtke, Edward C. Smith, Elie Abdelnour, Sujay Kansagra, Carolyn Pizoli, William Gallentine, Anthony Pecoraro

Publikováno v: Epilepsy & Behavior. 73:137-141

Objectives To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1). Methods Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period. Results Of the 184 NF1 patients seen d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe801839a6e7c726a583a20956004c7c
https://doi.org/10.1016/j.yebeh.2017.05.011

A Genocentric Approach to Discovery of Mendelian Disorders

Autor: Edward C. Smith, Liwen Wang, Shalini N. Jhangiani, B. Kim Andrews, Alexander C. Allori, Adam W. Hansen, Sherry S. Ross, Sarah Ellestad, Brita Boyd, Joanne Kurtzberg, Fritz J. Sedlazeck, V. Reid Sutton, Eric Boerwinkle, Erica E. Davis, Jill A. Rosenfeld, Aniko Sabo, Jennifer E. Posey, C. Michael Cotten, Jeffrey R. Marcus, Yezmin Perilla, James R. Lupski, Richard A. Gibbs, Mohammed Mikati, John S. Wiener, Heidi L. Cope, Michael M. Khayat, Pengfei Liu, Misha Angrist, Sara H. Katsanis, Sujay Kansagra, Stephen Miller, William Gallentine, Amanda French, Nicholas Katsanis, Mullai Murugan, Eileen Chambers, Allison E. Ashley-Koch, Theresa Curington, Amy P. Murtha, He Li, Patricia L. Ashley, Donna M. Muzny, Kimberley A. Fisher, Zeynep Coban Akdemir, Kevin D. Hill, Azita Sadeghpour, Margarita Bidegain, Todd Purves, Michael F. Wangler, Carolyn Pizoli, Christine M. Eng, Yaping Yang, Ronald N. Goldberg, Marie T. McDonald

Publikováno v: Am J Hum Genet

The advent of inexpensive, clinical exome sequencing (ES) has led to the accumulation of genetic data from thousands of samples from individuals affected with a wide range of diseases, but for whom the underlying genetic and molecular etiology of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f874576161d739d85d6b845742fe3d2
https://europepmc.org/articles/PMC6849092/