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839 results on '"Frush, Donald P."'

2. Recurrent medical imaging exposures for the care of patients: one way forward

Author

Frush, Donald Paul, Vassileva, Jenia, Brambilla, Marco, Mahesh, Mahadevappa, Rehani, Madan, Samei, Ehsan, Applegate, Kimberly, Bourland, John, Ciraj-Bjenlac, Olivera, Dahlstrom, Danielle, Gershan, Vesna, Gilligan, Paddy, Godthelp, Barbara, Hjemly, Hakon, Kainberger, Franz, Mikhail-Lette, Miriam, Holmberg, Ola, Paez, Diana, Schrandt, Suz, Valentin, Andreas, Van Deventer, Tahera, and Wakeford, Richard

Published
2024
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4. Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.

Author

Tan, Queenie, Cope, Heidi, Spillmann, Rebecca, Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie, Rothman, Jennifer, Butler, Megan, Frush, Donald, Lachman, Ralph, Lee, Brendan, Bacino, Carlos, Bonner, Melanie, McCall, Chad, Pendse, Avani, Walley, Nicole, Shashi, Vandana, and Pena, Loren

Subjects
congenital thrombocytopenia, exocrine pancreatic insufficiency, hepatic bridging fibrosis, hypercalciuria, intellectual disability, mild, portal fibrosis, short stature, spondylometaphyseal dysplasia, Adolescent, Bone Marrow Diseases, Exocrine Pancreatic Insufficiency, Female, GTP Phosphohydrolases, Genetic Variation, Humans, Lipomatosis, Mutation, Osteochondrodysplasias, Peptide Elongation Factors, Phenotype, Proteins, Ribonucleoprotein, U5 Small Nuclear, Shwachman-Diamond Syndrome, Exome Sequencing
Abstract

Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman-Diamond syndrome (SDS), with the functional interplay between EFL1 and the previously known causative gene SBDS accounting for the similarity in clinical features. Relatively little is known about the phenotypes associated with pathogenic variants in the EFL1 gene, but the initial indication was that phenotypes may be more severe, when compared with SDS. We report a pediatric patient who presented with a metaphyseal dysplasia and was found to have biallelic variants in EFL1 on reanalysis of trio whole-exome sequencing data. The variant had not been initially reported because of the research laboratorys focus on de novo variants. Subsequent phenotyping revealed variability in her manifestations. Although her metaphyseal abnormalities were more severe than in the original reported cohort with EFL1 variants, the bone marrow abnormalities were generally mild, and there was equivocal evidence for pancreatic insufficiency. Despite the limited number of reported patients, variants in EFL1 appear to cause a broader spectrum of symptoms that overlap with those seen in SDS. Our report adds to the evidence of EFL1 being associated with an SDS-like phenotype and provides information adding to our understanding of the phenotypic variability of this disorder. Our report also highlights the value of exome data reanalysis when a diagnosis is not initially apparent.

Published
2018

5. Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy

Author

McIntosh, Paul T, Hobson-Webb, Lisa D, Kazi, Zoheb B, Prater, Sean N, Banugaria, Suhrad G, Austin, Stephanie, Wang, Raymond, Enterline, David S, Frush, Donald P, and Kishnani, Priya S

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Rare Diseases, Digestive Diseases, Neurosciences, Neurodegenerative, Brain Disorders, Clinical Research, Liver Disease, Biomedical Imaging, Neurological, Adolescent, Brain, Child, Child, Preschool, Enzyme Replacement Therapy, Female, Glycogen Storage Disease Type II, Humans, Infant, Male, Neuroimaging, Treatment Outcome, alpha-Glucosidases, Pompe disease, Glycogen storage disease type II, Neuromuscular diseases, Central nervous system, Blood-brain barrier, Enzyme replacement therapy, MRI, CT, rhGAA, Alglucosidase alfa, Acid maltase deficiency, Genetics & Heredity, Genetics, Clinical sciences
Abstract

BackgroundRecombinant human acid α-glucosidase (rhGAA) enzyme replacement therapy (ERT) has prolonged survival in infantile Pompe disease (IPD), but has unmasked central nervous system (CNS) changes.MethodsBrain imaging, consisting of computed tomography (CT) and/or magnetic resonance imaging (MRI), was performed on 23 patients with IPD (17 CRIM-positive, 6 CRIM-negative) aged 2-38months. Most patients had baseline neuroimaging performed prior to the initiation of ERT. Follow-up neuroimaging was performed in eight.ResultsSixteen patients (70%) had neuroimaging abnormalities consisting of ventricular enlargement (VE) and/or extra-axial cerebrospinal fluid accumulation (EACSF) at baseline, with delayed myelination in two. Follow-up neuroimaging (n=8) after 6-153months showed marked improvement, with normalization of VE and EACSF in seven patients. Two of three patients imaged after age 10years demonstrated white matter changes, with one noted to have a basilar artery aneurysm.ConclusionsMild abnormalities on brain imaging in untreated or newly treated patients with IPD tend to resolve with time, in conjunction with ERT. However, white matter changes are emerging as seen in Patients 1 and 3 which included abnormal periventricular white matter changes with subtle signal abnormalities in the basal ganglia and minimal, symmetric signal abnormalities involving the deep frontoparietal cerebral white matter, respectively. The role of neuroimaging as part of the clinical evaluation of IPD needs to be considered to assess for white matter changes and cerebral aneurysms.

Published
2018

12. Medical Imaging Safety in Global Health Radiology

Author

Dobbins, James T., III, Frush, Donald P., Kigongo, Christopher J. N., MacFall, James R., Reiman, Robert E., Jr, Trahey, Gregg E., Bradway, David P., Mollura, Daniel J., editor, Culp, Melissa P., editor, and Lungren, Matthew P., editor

Published
2019
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22. Authors’ Response

Author

Bluth, Edward I., primary, Frush, Donald P., additional, Oates, M. Elizabeth, additional, Rosenthal, Seth A., additional, and Bender, Claire, additional

Published
2023
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23. Indications for Use and Medical Device Reporting: What a Radiologist Needs to Know

Author

Nelson, Brandon J., Zeng, Rongping, Sammer, Marla B. K., Frush, Donald P., and Delfino, Jana G.

Subjects
Medical Devices, Indications for Use, Adverse Event Reporting, artificial intelligence, Pediatrics
Abstract

Radiology has been a pioneer in adopting artificial intelligence (AI)-enabled devices into the clinic. However, initial clinical experience has identified concerns of inconsistent device performance across different patient populations. Medical devices, including those utilizing AI, are cleared by the US Food and Drug Administration (FDA) for their specific indications for use (IFU). IFU describes the disease or condition the device will diagnose or treat, including a description of the intended patient population. Performance data evaluated during the premarket submission support the IFU and includes the intended patient population. Understanding the indications for use of a given device is thus critical to ensuring that the device is used properly and performs as expected. When devices do not perform as expected or malfunction, medical device reporting is an important way to provide feedback about the device to the manufacturer, the FDA, and other users. This paper describes the ways to retrieve the IFU and performance data information as well as the FDA medical device reporting systems for unexpected performance discrepancy. It is crucial that imaging professionals, including radiologists, know how to access and utilize these tools to improve the informed use of medical devices for patients of all ages.

Published
2023
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27. The professional radiation workforce in the United States

Author

Newhauser, Wayne D., primary, Williams, Jacqueline P., additional, Noska, Michael A., additional, Borrás, Caridad, additional, Holahan, E. Vincent, additional, Dewji, Shaheen A., additional, Johnson, Thomas E., additional, Hiatt, Jerry W., additional, Poston, John W., additional, Hertel, Nolan, additional, Gress, Dustin A., additional, Mills, Michael D., additional, Jordan, David W., additional, Sutlief, Steven G., additional, Martin, Melissa C., additional, Jackson, Edward, additional, Bluth, Edward I., additional, Frush, Donald P., additional, Oates, M. Elizabeth, additional, LaBerge, Jeanne, additional, Pan, Hubert Y., additional, Rosenthal, Seth A., additional, Townsend, Lawrence W., additional, Brady, Lori, additional, Lindegard, Janice, additional, Hall, Howard L., additional, McAndrew‐Benavides, Elizabeth, additional, Abelquist, Eric, additional, Anscher, Mitchell S., additional, Vazquez, Marcelo, additional, Kronenberg, Amy, additional, Willey, Jeffrey S., additional, Lawrence, Theodore, additional, Woloschak, Gayle E., additional, Marples, Brian, additional, Wong, Rosemary, additional, Story, Michael, additional, Howell, Roger W., additional, Hei, Tom K., additional, Tolmachev, Sergey Y., additional, Auxier, John D., additional, Rucker, Thomas L., additional, Nilsson, Mikael, additional, Sudowe, Ralf, additional, Powell, Brian A., additional, and Jensen, Mark P., additional

Published
2022
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28. Summary and conclusions, and abbreviations and acronyms

Author

Newhauser, Wayne D., primary, Williams, Jacqueline P., additional, Noska, Michael A., additional, Borrás, Caridad, additional, Holahan, E. Vincent, additional, Dewji, Shaheen A., additional, Johnson, Thomas E., additional, Hiatt, Jerry W., additional, Poston, John W., additional, Hertel, Nolan, additional, Gress, Dustin A., additional, Mills, Michael D., additional, Jordan, David W., additional, Sutlief, Steven G., additional, Martin, Melissa C., additional, Jackson, Edward, additional, Bluth, Edward I., additional, Frush, Donald P., additional, Oates, M. Elizabeth, additional, LaBerge, Jeanne, additional, Pan, Hubert Y., additional, Rosenthal, Seth A., additional, Townsend, Lawrence W., additional, Brady, Lori, additional, Lindegard, Janice, additional, Hall, Howard L., additional, McAndrew‐Benavides, Elizabeth, additional, Abelquist, Eric, additional, Anscher, Mitchell S., additional, Vazquez, Marcelo, additional, Kronenberg, Amy, additional, Willey, Jeffrey S., additional, Lawrence, Theodore, additional, Woloschak, Gayle E., additional, Marples, Brian, additional, Wong, Rosemary, additional, Story, Michael, additional, Howell, Roger W., additional, Hei, Tom K., additional, Tolmachev, Sergey Y., additional, Auxier, John D., additional, Rucker, Thomas L., additional, Nilsson, Mikael, additional, Sudowe, Ralf, additional, Powell, Brian A., additional, and Jensen, Mark P., additional

Published
2022
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29. Medical workforce in the United States

Author

Bluth, Edward I., primary, Frush, Donald P., additional, Oates, M. Elizabeth, additional, LaBerge, Jeanne, additional, Pan, Hubert Y., additional, Newhauser, Wayne D., additional, and Rosenthal, Seth A., additional

Published
2022
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33. Radiation Exposure from Medical Imaging

Author

Loftus, Michael L., Sanelli, Pina C., Frush, Donald P., Applegate, Kimberly E., Medina, L. Santiago, editor, Blackmore, C. Craig, editor, Applegate, Kimberly E., editor, Sanelli, Pina C., editor, and Jarvik, Jeffrey G., editor

Published
2013
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47. Comparison of Radiation Dose Estimates and Scan Performance in Pediatric High-Resolution Thoracic CT for Volumetric 320-Detector Row, Helical 64-Detector Row, and Noncontiguous Axial Scan Acquisitions

Author

Podberesky, Daniel J., Angel, Erin, Yoshizumi, Terry T., Toncheva, Greta, Salisbury, Shelia R., Brody, Alan S., Alsip, Christopher, Barelli, Alessandra, Egelhoff, John C., Anderson-Evans, Colin, Nguyen, Giao B., Dow, David, and Frush, Donald P.

Published
2013
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