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496 results on '"El-Dairi, Mays"'

1. Biphasic change in retinal nerve fibre layer thickness from 30 to 60 weeks postmenstrual age in preterm infants.

Author

Shen, Liangbo, Mangalesh, Shwetha, McGeehan, Brendan, Seely, Kai, Tai, Vincent, Sarin, Neeru, Finkle, Joanne, Winter, Katrina, Tran-Viet, Du, Freedman, Sharon, El-Dairi, Mays, Ying, Gui-Shuang, and Toth, Cynthia

Subjects
child health (paediatrics), imaging, optic nerve, retina, Humans, Tomography, Optical Coherence, Nerve Fibers, Retinal Ganglion Cells, Gestational Age, Male, Female, Infant, Premature, Infant, Newborn, Retinopathy of Prematurity, Prospective Studies
Abstract

BACKGROUND/AIMS: The optic nerve development during the critical postnatal weeks of preterm infants is unclear. We aimed to investigate the change of retinal nerve fibre layer (RNFL) in preterm infants. METHODS: We used an investigational handheld optical coherence tomography (OCT) system to serially image awake preterm infants between 30 and 60 weeks postmenstrual age (PMA) at the bedside. We assessed RNFL thickness in the papillomacular bundle and nasal macular ganglion cell layer+inner plexiform layer (GCL+IPL) thickness. We applied a segmented mixed model to analyse the change in the thickness of RNFL and GCL+IPL as a function of PMA. RESULTS: From 631 OCT imaging sessions of 101 infants (201 eyes), RNFL thickness followed a biphasic model between 30 and 60 weeks, with an estimated transition at 37.8 weeks PMA (95% CI: 37.0 to 38.6). RNFL thickness increased at 1.8 μm/week (95% CI: 1.6 to 2.1) before 37.8 weeks and decreased at -0.3 μm/week (95% CI: -0.5 to -0.2) afterwards. GCL+IPL thickness followed a similar biphasic model, in which the thickness increased at 2.9 μm/week (95% CI: 2.5 to 3.2) before 39.5 weeks PMA (95% CI: 38.8 to 40.1) and then decreased at -0.8 μm/week (95% CI: -0.9 to -0.6). CONCLUSION: We demonstrate the feasibility of monitoring RNFL and GCL+IPL thickness from OCT during the postnatal weeks of preterm infants. Thicknesses follow a biphasic model with a transition age at 37.8 and 39.5 weeks PMA, respectively. These findings may shed light on optic nerve development in preterm infants and assist future study designs.

Published
2023

2. Associations between systemic health and retinal nerve fibre layer thickness in preterm infants at 36 weeks postmenstrual age.

Author

Mangalesh, Shwetha, Michalak, Suzanne, McGeehan, Brendan, Sarin, Neeru, Finkle, Joanne, Winter, Katrina, Tran-Viet, Du, Benner, Eric, Vajzovic, Lejla, Freedman, Sharon, Younge, Noelle, Cotten, C, El-Dairi, Mays, Ying, Gui-Shuang, Toth, Cynthia, and Shen, Liangbo

Subjects
child health (paediatrics), imaging, inflammation, optic nerve, retina, Humans, Infant, Newborn, Infant, Premature, Retinal Ganglion Cells, Retina, Birth Weight, Tomography, Optical Coherence, Nerve Fibers, Sepsis
Abstract

BACKGROUND/AIMS: Neonatal insults from systemic diseases have been implicated in the pathway of impaired neurodevelopment in preterm infants. We aimed to investigate the associations between systemic health factors and retinal nerve fibre layer (RNFL) thickness in preterm infants. METHODS: We prospectively enrolled infants and imaged both eyes at 36±1 weeks postmenstrual age (PMA) using a hand-held optical coherence tomography system at the bedside in the Duke intensive care nurseries. We evaluated associations between RNFL thickness and 29 systemic health factors using univariable and multivariable regression models. RESULTS: 83 infants with RNFL thickness measures were included in this study. Based on the multivariable model, RNFL thickness was positively associated with infant weight at imaging and was negatively associated with sepsis/necrotising enterocolitis (NEC). RNFL thickness was 10.4 µm (95% CI -15.9 to -4.9) lower in infants with than without sepsis/NEC in the univariable analysis (p

Published
2023

7. Longitudinal Choroidal Development in Preterm Infants

Author

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

Published
2024
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8. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Author

Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dickson, Patricia, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Scott, C. Ron, Seto, Elaine, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Ganetzky, Rebecca, Kranz, Peter G., Sondheimer, Neal, Markert, M. Louise, Sadeghpour, Azita, Roehrs, Philip, Arbogast, Thomas, Muraresku, Colleen, Tyndall, Amanda V., Esser, Michael J., Woodward, Kristine E., Ping-Yee Au, Billie, Parboosingh, Jillian S., Lamont, Ryan E., Bernier, Francois P., Wright, Nicola A.M., Benseler, Susa M., Parsons, Simon J., El-Dairi, Mays, Valdez, Purnima, Tennison, Michael, Innes, A. Micheil, and Davis, Erica E.

Published
2023
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9. Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.

Author

Slone, Jesse, Peng, Yanyan, Chamberlin, Adam, Harris, Belinda, Kaylor, Julie, McDonald, Marie T, Lemmon, Monica, El-Dairi, Mays Antonine, Tchapyjnikov, Dmitry, Gonzalez-Krellwitz, Laura A, Sellars, Elizabeth A, McConkie-Rosell, Allyn, Reinholdt, Laura G, and Huang, Taosheng

Subjects
Brain, Animals, Mice, Transgenic, Humans, Mice, Neurodegenerative Diseases, Inflammation, Oxidoreductases, Iron-Sulfur Proteins, Mutation, Alleles, Female, Male, Genetics, Neurosciences, Neurodegenerative, Peripheral Neuropathy, Brain Disorders, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Neurological, Clinical Sciences, Genetics & Heredity
Abstract

Mitochondrial dysfunction lies behind many neurodegenerative disorders, owing largely to the intense energy requirements of most neurons. Such mitochondrial dysfunction may work through a variety of mechanisms, from direct disruption of the electron transport chain to abnormal mitochondrial biogenesis. Recently, we have identified biallelic mutations in the mitochondrial flavoprotein "ferredoxin reductase" (FDXR) gene as a novel cause of mitochondriopathy, peripheral neuropathy, and optic atrophy. In this report, we expand upon those results by describing two new cases of disease-causing FDXR variants in patients with variable severity of phenotypes, including evidence of an inflammatory response in brain autopsy. To investigate the underlying pathogenesis, we examined neurodegeneration in a mouse model. We found that Fdxr mutant mouse brain tissues share pathological changes similar to those seen in patient autopsy material, including increased astrocytes. Furthermore, we show that these abnormalities are associated with increased levels of markers for both neurodegeneration and gliosis, with the latter implying inflammation as a major factor in the pathology of Fdxr mutations. These data provide further insight into the pathogenic mechanism of FDXR-mediated central neuropathy, and suggest an avenue for mechanistic studies that will ultimately inform treatment.

Published
2018

10. IRF2BPL Is Associated with Neurological Phenotypes

Author

Marcogliese, Paul C, Shashi, Vandana, Spillmann, Rebecca C, Stong, Nicholas, Rosenfeld, Jill A, Koenig, Mary Kay, Martínez-Agosto, Julián A, Herzog, Matthew, Chen, Agnes H, Dickson, Patricia I, Lin, Henry J, Vera, Moin U, Salamon, Noriko, Graham, John M, Ortiz, Damara, Infante, Elena, Steyaert, Wouter, Dermaut, Bart, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Lee, Pei-Tseng, Kanca, Oguz, Xia, Fan, Yang, Yaping, Smith, Edward C, Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D, Golden-Grant, Katie, Diseases, Program for Undiagnosed, Callens, Steven, Coucke, Paul, Hemelsoet, Dimitri, Terryn, Wim, Van Coster, Rudy, Network, Undiagnosed Diseases, Adams, David R, Alejandro, Mercedes E, Allard, Patrick, Azamian, Mahshid S, Bacino, Carlos A, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D’Souza, Precilla, Davids, Mariska, Dayal, Jyoti G, Dell’Angelica, Esteban C, Dhar, Shweta U, Dillon, Ani, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Fogel, Brent L, Friedman, Noah D, Gahl, William A, Glanton, Emily, Godfrey, Rena A, Goldstein, David B, Gould, Sarah E, Gourdine, Jean-Philippe F, and Groden, Catherine A

Subjects
Neurodegenerative, Brain Disorders, Neurosciences, Human Genome, Genetics, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, Neurological, Program for Undiagnosed Diseases, Undiagnosed Diseases Network, C3HC4 RING finger, CG11138, Drosophila, EAP1, ataxia, developmental regression, hypotonia, neurodegeneration, pits, seizures, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Here we describe seven individuals who carry damaging heterozygous variants in IRF2BPL and are affected with neurological symptoms. Five individuals who carry IRF2BPL nonsense variants resulting in a premature stop codon display severe neurodevelopmental regression, hypotonia, progressive ataxia, seizures, and a lack of coordination. Two additional individuals, both with missense variants, display global developmental delay and seizures and a relatively milder phenotype than those with nonsense alleles. The IRF2BPL bioinformatics signature based on population genomics is consistent with a gene that is intolerant to variation. We show that the fruit-fly IRF2BPL ortholog, called pits (protein interacting with Ttk69 and Sin3A), is broadly detected, including in the nervous system. Complete loss of pits is lethal early in development, whereas partial knockdown with RNA interference in neurons leads to neurodegeneration, revealing a requirement for this gene in proper neuronal function and maintenance. The identified IRF2BPL nonsense variants behave as severe loss-of-function alleles in this model organism, and ectopic expression of the missense variants leads to a range of phenotypes. Taken together, our results show that IRF2BPL and pits are required in the nervous system in humans and flies, and their loss leads to a range of neurological phenotypes in both species.

Published
2018

11. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Author

Pena, Loren, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca, Walley, Nicole, Stong, Nicholas, Rapisardo Horn, Sarah, Sullivan, Jennifer, McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward, El-Dairi, Mays, Bellet, Jane, Keels, Martha, Jasien, Joan, Kranz, Peter, Noel, Richard, Nagaraj, Shashi, Lark, Robert, Wechsler, Daniel, Del Gaudio, Daniela, Leung, Marco, Hendon, Laura, Parker, Collette, Jones, Kelly, Goldstein, David, and Shashi, Vandana

Subjects
Alleles, Biopsy, Child, Child, Preschool, Exome, Female, Genetic Association Studies, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genotype, Humans, Infant, Molecular Diagnostic Techniques, Phenotype, Polymorphism, Single Nucleotide, Rare Diseases, Exome Sequencing, Whole Genome Sequencing
Abstract

PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software. Individual 2 had neurodevelopmental regression and cerebellar atrophy, with no diagnosis on WES. New clinical findings prompted Sanger sequencing and copy number testing of PLA2G6. A novel homozygous deletion of the noncoding exon 1 (not included in the WES capture kit) was detected, with extension into the promoter, confirming the clinical suspicion of infantile neuroaxonal dystrophy. Individual 3 had progressive ataxia, spasticity, and magnetic resonance image changes of vanishing white matter leukoencephalopathy. An NGS leukodystrophy gene panel and WES showed a heterozygous pathogenic variant in EIF2B5; no deletions/duplications were detected. Sanger sequencing of EIF2B5 showed a frameshift indel, probably missed owing to failure of alignment.ConclusionThese cases illustrate potential pitfalls of WES/NGS testing and the importance of phenotype-guided molecular testing in yielding diagnoses.

Published
2018

14. Longitudinal Choroidal Development in Preterm Infants

Author

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

Published
2024
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19. PHOMS: An apt and accurate acronym

Author

Liu, Allison, Steensberg, Alvilda Hemmingsen, Gilbert, Aubrey L., Petzold, Axel, Katz, Bradley J., Fraser, Clare L., Milea, Dan, Costello, Fiona, Moss, Heather E., Shin, Hyunjin, Fraser, J. Alexander, Peragallo, Jason H., Gale, Jesse, Warner, Judith E.A., Digre, Kathleen B., Malmqvist, Lasse, Lykkebirk, Lea, Bursztyn, Lulu L.C.D., Rougier, Marie-Bénédicte, Fard, Masoud Aghsaei, El-Dairi, Mays A., Girard, Michael J.A., Lawlor, Mitchell, Rasool, Nailyn, Newman, Nancy J., Jurkute, Neringa, Sibony, Patrick A., Fonseca, Pedro, Quiros, Peter A., Maloca, Peter M., Subramanian, Prem S., Huna-Baron, Ruth, Beres, Shannon J., Bassi, Shikha Talwar, Rothenbuehler, Simon P., Wong, Sui H., Mollan, Susan P., Martín, Susana Noval, Biousse, Valerie, Shah, Veeral S., Liao, Yaping Joyce, Fraser, J.A., Costello, F., and Hamann, S.

Published
2024
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32. Contributors

Author

Ali, Mohsin H., primary, Bleicher, Isaac, additional, Chen, Xi, additional, Dandridge, Alexandria, additional, El-Dairi, Mays, additional, Ely, Amanda, additional, Finn, Avni P., additional, Freedman, Sharon F., additional, Gabr, Hesham, additional, Grewal, Dilraj S., additional, House, Robert J., additional, Hsu, S. Tammy, additional, Kelly, Michael P., additional, Mangalesh, Shwetha, additional, Mruthyunjaya, Prithvi, additional, Ong, Sally S., additional, Rothman, Adam L., additional, Sarin, Neeru, additional, Scott, Adrienne W., additional, Tai, Vincent, additional, Thomas, Akshay, additional, Tian, James, additional, Toth, Cynthia A., additional, Tran-Viet, Du, additional, Vajzovic, Lejla, additional, Viehland, Christian, additional, Winter, Katrina Postell, additional, Yiu, Glenn, additional, Yoon, Steven, additional, and Zhang, Wenlan, additional

Published
2020
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41. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Author

Shashi, Vandana, primary, Schoch, Kelly, additional, Ganetzky, Rebecca, additional, Kranz, Peter G., additional, Sondheimer, Neal, additional, Markert, M. Louise, additional, Cope, Heidi, additional, Sadeghpour, Azita, additional, Roehrs, Philip, additional, Arbogast, Thomas, additional, Muraresku, Colleen, additional, Tyndall, Amanda V., additional, Esser, Michael J., additional, Woodward, Kristine E., additional, Ping-Yee Au, Billie, additional, Parboosingh, Jillian S., additional, Lamont, Ryan E., additional, Bernier, Francois P., additional, Wright, Nicola A.M., additional, Benseler, Susa M., additional, Parsons, Simon J., additional, El-Dairi, Mays, additional, Smith, Edward C., additional, Valdez, Purnima, additional, Tennison, Michael, additional, Innes, A. Micheil, additional, Davis, Erica E., additional, Acosta, Maria T., additional, Adam, Margaret, additional, Adams, David R., additional, Alvarez, Raquel L., additional, Alvey, Justin, additional, Amendola, Laura, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bennett, Jimmy, additional, Berg-Rood, Beverly, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Boyd, Brenna, additional, Briere, Lauren C., additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Cassini, Thomas, additional, Peter Chang, Ta Chen, additional, Chanprasert, Sirisak, additional, Chao, Hsiao-Tuan, additional, Chinn, Ivan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F. 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Published
2023
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46. Escape from prism

Author

Brodsky, Michael C., primary, Aul, Bryce J., additional, Daniels, David J., additional, and El-Dairi, Mays, additional

Published
2023
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50. Optical Coherence Tomography Findings in Cherry-Red Spot: Implications for Understanding Pathophysiology and Visual Prognosis.

Author

Lee, Terry, Velez, Federico G., Galoyan, Nelli, Prasad, Vinod K., and El-Dairi, Mays A.

Subjects
OPTICAL coherence tomography, LYSOSOMAL storage diseases, VISUAL evoked potentials, NIEMANN-Pick diseases, PATHOLOGICAL physiology, GLYCOGEN storage disease type II
Abstract

Purpose: To report optical coherence tomography (OCT) findings of cherry-red spots from Tay-Sachs and Niemann-Pick disease. Methods: Consecutive patients with Tay-Sachs and Niemann-Pick disease evaluated by the pediatric transplant and cellular therapy team, for whom a handheld OCT scan was obtained, were included. Demographic information, clinical history, fundus photography, and OCT scans were reviewed. Two masked graders evaluated each of the scans. Results: The study included 3 patients with Tay-Sachs disease (5, 8, and 14 months old) and 1 patient with Niemann-Pick disease (12 months old). All patients had bilateral cherry-red spots on fundus examination. In all patients with Tay-Sachs disease, handheld OCT revealed parafoveal ganglion cell layer (GCL) thickening, increased nerve fiber layer, and GCL reflectivity, and different levels of residual normal signal GCL. The patient with Niemann-Pick disease had similar parafoveal findings, but there was a thicker residual GCL. Sedated visual evoked potentials were unrecordable in all 4 patients despite 3 of them demonstrating normal visual behavior for age. Patients with good vision had relative sparing of the GCL on OCT. Conclusions: The cherry-red spots in lysosomal storage diseases appear as perifoveal thickening and hyperreflectivity of the GCL on OCT. In this case series, residual GCL with normal signal proved to be a better biomarker for visual function than visual evoked potentials and could be considered for future therapeutic trials. [J Pediatr Ophthalmol Strabismus. 2023;60(6):435–440.] [ABSTRACT FROM AUTHOR]

Published
2023
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