Search Results - "Brewer, Carmen"

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial by Ory, Daniel S, Ottinger, Elizabeth A, Farhat, Nicole Yanjanin, King, Kelly A, Jiang, Xuntian, Weissfeld, Lisa, Berry-Kravis, Elizabeth, Davidson, Cristin D, Bianconi, Simona, Keener, Lee Ann, Rao, Ravichandran, Soldatos, Ariane, Sidhu, Rohini, Walters, Kimberly A, Xu, Xin, Thurm, Audrey, Solomon, Beth, Pavan, William J, Machielse, Bernardus N, Kao, Mark, Silber, Steven A, McKew, John C, Brewer, Carmen C, Vite, Charles H, Walkley, Steven U, Austin, Christopher P, Porter, Forbes D

“…Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterised by progressive neurodegeneration. In preclinical testing,…”
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Genetic hearing loss: the audiologist’s perspective by Brewer, Carmen C., King, Kelly A.

“…As knowledge regarding the genetic underpinnings of hearing loss has rapidly evolved, the role of the clinician in managing the patient has expanded beyond…”
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Audiometric and Otologic Findings in Children and Young Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas by Idowu, Victoria, Christensen, Julie, Gross, Andrea M, Dombi, Eva, Miles, Jennifer R, King, Kelly, Chisholm, Jennifer, Zalewski, Christopher, Baldwin, Andrea, Whitcomb, Patricia, Burgess, Crystal, Widemann, Brigitte C, Brewer, Carmen C, Kim, Hung Jeffrey

“…To characterize otologic and audiologic manifestations in our NF1 cohort and explore the relationship between otologic and audiologic findings in a subset of…”
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The audiogram: Detection of pure-tone stimuli in ototoxicity monitoring and assessments of investigational medicines for the inner ear by Le Prell, Colleen G, Brewer, Carmen C, Campbell, Kathleen C M

“…Pure-tone thresholds have long served as a gold standard for evaluating hearing sensitivity and documenting hearing changes related to medical treatments,…”
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NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy by Nakanishi, Hiroshi, Kawashima, Yoshiyuki, Kurima, Kiyoto, Chae, Jae Jin, Ross, Astin M., Pinto-Patarroyo, Gineth, Patel, Seema K., Muskett, Julie A., Ratay, Jessica S., Chattaraj, Parna, Park, Yong Hwan, Grevich, Sriharsha, Brewer, Carmen C., Hoa, Michael, Kim, H. Jeffrey, Butman, John A., Broderick, Lori, Hoffman, Hal M., Aksentijevich, Ivona, Kastner, Daniel L., Goldbach-Mansky, Raphaela, Griffith, Andrew J.

“…The NLRP3 inflammasome is an intracellular innate immune sensor that is expressed in immune cells, including monocytes and macrophages. Activation of the NLRP3…”
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Clinical trials, ototoxicity grading scales and the audiologist's role in therapeutic decision making by King, Kelly A., Brewer, Carmen C.

“…Objectives: Define clinical trials and adverse event (AE) monitoring from the perspective of the audiologist. Rationalise the importance of audiology's…”
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Inhaled amikacin for treatment of refractory pulmonary nontuberculous mycobacterial disease by Olivier, Kenneth N, Shaw, Pamela A, Glaser, Tanya S, Bhattacharyya, Darshana, Fleshner, Michelle, Brewer, Carmen C, Zalewski, Christopher K, Folio, Les R, Siegelman, Jenifer R, Shallom, Shamira, Park, In Kwon, Sampaio, Elizabeth P, Zelazny, Adrian M, Holland, Steven M, Prevots, D Rebecca

“…Treatment of pulmonary nontuberculous mycobacteria, especially Mycobacterium abscessus, requires prolonged, multidrug regimens with high toxicity and…”
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Outcomes in Previously Healthy Cryptococcal Meningoencephalitis Patients Treated With Pulse Taper Corticosteroids for Post-infectious Inflammatory Syndrome by Anjum, Seher, Dean, Owen, Kosa, Peter, Magone, M Teresa, King, Kelly A, Fitzgibbon, Edmond, Kim, H Jeff, Zalewski, Chris, Murphy, Elizabeth, Billioux, Bridgette Jeanne, Chisholm, Jennifer, Brewer, Carmen C, Krieger, Chantal, Elsegeiny, Waleed, Scott, Terri L, Wang, Jing, Hunsberger, Sally, Bennett, John E, Nath, Avindra, Marr, Kieren A, Bielekova, Bibiana, Wendler, David, Hammoud, Dima A, Williamson, Peter

“…Abstract Background Cryptococcal meningoencephalitis (CM) is a major cause of mortality in immunosuppressed patients and previously healthy individuals. In the…”
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Gene therapy with human and mouse T-cell receptors mediates cancer regression and targets normal tissues expressing cognate antigen by Johnson, Laura A., Morgan, Richard A., Dudley, Mark E., Cassard, Lydie, Yang, James C., Hughes, Marybeth S., Kammula, Udai S., Royal, Richard E., Sherry, Richard M., Wunderlich, John R., Lee, Chyi-Chia R., Restifo, Nicholas P., Schwarz, Susan L., Cogdill, Alexandria P., Bishop, Rachel J., Kim, Hung, Brewer, Carmen C., Rudy, Susan F., VanWaes, Carter, Davis, Jeremy L., Mathur, Aarti, Ripley, Robert T., Nathan, Debbie A., Laurencot, Carolyn M., Rosenberg, Steven A.

“…Gene therapy of human cancer using genetically engineered lymphocytes is dependent on the identification of highly reactive T-cell receptors (TCRs) with…”
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Mechanisms of hearing loss in neurofibromatosis type 2 by Asthagiri, Ashok R, Vasquez, Raul A, Butman, John A, Wu, Tianxia, Morgan, Keaton, Brewer, Carmen C, King, Kelly, Zalewski, Chris, Kim, H Jeffrey, Lonser, Russell R

“…Patients with neurofibromatosis type 2 (NF2) develop bilateral cochleovestibular schwannomas (CVSs) that cause binaural deafness in most individuals. Hearing…”
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Auditory Phenotype of Niemann-Pick Disease, Type C1 by King, Kelly A, Gordon-Salant, Sandra, Yanjanin, Nicole, Zalewski, Christopher, Houser, Ari, Porter, Forbes D, Brewer, Carmen C

“…OBJECTIVES:The aim of this study was to comprehensively evaluate the auditory phenotype in Niemann-Pick disease, type C1 (NPC1), to understand better the…”
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Stability of Early Auditory Evoked Potential Components Over Extended Test-Retest Intervals in Young Adults by Bieber, Rebecca E., Fernandez, Katharine, Zalewski, Chris, Cheng, Hui, Brewer, Carmen C.

“…OBJECTIVES:Synaptic damage from noise exposures can occur even in the absence of changes in hearing sensitivity in animal models. There is an unmet clinical…”
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Stability of Early Auditory Evoked Potential Components Over Extended Test-Retest Intervals in Young Adults by Bieber, Rebecca E, Fernandez, Katharine, Zalewski, Chris, Cheng, Hui, Brewer, Carmen C

“…Synaptic damage from noise exposures can occur even in the absence of changes in hearing sensitivity in animal models. There is an unmet clinical need for…”
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Genetic Hearing Loss Associated With Autoinflammation by Nakanishi, Hiroshi, Prakash, Pragya, Ito, Taku, Kim, H Jeffrey, Brewer, Carmen C, Harrow, Danielle, Roux, Isabelle, Hosokawa, Seiji, Griffith, Andrew J

“…Sensorineural hearing loss can result from dysfunction of the inner ear, auditory nerve, or auditory pathways in the central nervous system. Sensorineural…”
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CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct by Roux, Isabelle, Fenollar-Ferrer, Cristina, Lee, Hyun Jae, Chattaraj, Parna, Lopez, Ivan A., Han, Kyungreem, Honda, Keiji, Brewer, Carmen C., Butman, John A., Morell, Robert J., Martin, Donna M., Griffith, Andrew J.

“…Enlargement of the endolymphatic sac, duct, and vestibular aqueduct (EVA) is the most common inner ear malformation identified in patients with sensorineural…”
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Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation by Lam, Christina, Ferreira, Carlos, Krasnewich, Donna, Toro, Camilo, Latham, Lea, Zein, Wadih M., Lehky, Tanya, Brewer, Carmen, Baker, Eva H., Thurm, Audrey, Farmer, Cristan A., Rosenzweig, Sergio D., Lyons, Jonathan J., Schreiber, John M., Gropman, Andrea, Lingala, Shilpa, Ghany, Marc G., Solomon, Beth, Macnamara, Ellen, Davids, Mariska, Stratakis, Constantine A., Kimonis, Virginia, Gahl, William A., Wolfe, Lynne

“…The cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of the β-aspartyl glycosylamine bond of N-linked glycoproteins, releasing intact…”
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Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: A cohort study to determine three- and five-year outcomes by Sibley, Cailin H., Plass, Nikki, Snow, Joseph, Wiggs, Edythe A., Brewer, Carmen C., King, Kelly A., Zalewski, Christopher, Kim, H. Jeffrey, Bishop, Rachel, Hill, Suvimol, Paul, Scott M., Kicker, Patrick, Phillips, Zachary, Dolan, Joseph G., Widemann, Brigitte, Jayaprakash, Nalini, Pucino, Frank, Stone, Deborah L., Chapelle, Dawn, Snyder, Christopher, Butman, John A., Wesley, Robert, Goldbach-Mansky, Raphaela

“…Objective Blocking interleukin‐1 with anakinra in patients with the autoinflammatory syndrome neonatal‐onset multisystem inflammatory disease (NOMID) reduces…”
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Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome by Wafa, Talah T., Faridi, Rabia, King, Kelly A., Zalewski, Christopher, Yousaf, Rizwan, Schultz, Julie M., Morell, Robert J., Muskett, Julie, Turriff, Amy, Tsilou, Ekaterini, Griffith, Andrew J., Friedman, Thomas B., Zein, Wadih M., Brewer, Carmen C.

“…Usher syndrome has been historically categorized into one of three classical types based on the patient phenotype. However, the vestibular phenotype does not…”
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Proposed therapy, developed in a Pcdh15 -deficient mouse, for progressive loss of vision in human Usher syndrome by Sethna, Saumil, Zein, Wadih M, Riaz, Sehar, Giese, Arnaud Pj, Schultz, Julie M, Duncan, Todd, Hufnagel, Robert B, Brewer, Carmen C, Griffith, Andrew J, Redmond, T Michael, Riazuddin, Saima, Friedman, Thomas B, Ahmed, Zubair M

“…Usher syndrome type I (USH1) is characterized by deafness, vestibular areflexia, and progressive retinal degeneration. The protein-truncating p.Arg245* founder…”
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A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome by McDermott, David H, Velez, Daniel, Cho, Elena, Cowen, Edward W, DiGiovanna, John J, Pastrana, Diana V, Buck, Christopher B, Calvo, Katherine R, Gardner, Pamela J, Rosenzweig, Sergio D, Stratton, Pamela, Merideth, Melissa A, Kim, H Jeffrey, Brewer, Carmen, Katz, James D, Kuhns, Douglas B, Malech, Harry L, Follmann, Dean, Fay, Michael P, Murphy, Philip M

“…BACKGROUNDWarts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a primary immunodeficiency disorder caused by heterozygous…”
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