Search Results - "KARAA, AMEL"

The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes by Karaa, Amel, Goldstein, Amy

“…Primary mitochondrial diseases refer to a group of heterogeneous and complex genetic disorders affecting 1:5000 people. The true prevalence is anticipated to…”
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Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells by Walker, Melissa A, Lareau, Caleb A, Ludwig, Leif S, Karaa, Amel, Sankaran, Vijay G, Regev, Aviv, Mootha, Vamsi K

“…Most mitochondrial diseases are caused by mutations in mitochondrial DNA. A new type of genomic analysis provides evidence of selection against mutant…”
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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society by Parikh, Sumit, Goldstein, Amy, Karaa, Amel, Koenig, Mary Kay, Anselm, Irina, Brunel-Guitton, Catherine, Christodoulou, John, Cohen, Bruce H, Dimmock, David, Enns, Gregory M, Falk, Marni J, Feigenbaum, Annette, Frye, Richard E, Ganesh, Jaya, Griesemer, David, Haas, Richard, Horvath, Rita, Korson, Mark, Kruer, Michael C, Mancuso, Michelangelo, McCormack, Shana, Raboisson, Marie Josee, Reimschisel, Tyler, Salvarinova, Ramona, Saneto, Russell P, Scaglia, Fernando, Shoffner, John, Stacpoole, Peter W, Sue, Carolyn M, Tarnopolsky, Mark, Van Karnebeek, Clara, Wolfe, Lynne A, Cunningham, Zarazuela Zolkipli, Rahman, Shamima, Chinnery, Patrick F

“…The purpose of this statement is to provide consensus-based recommendations for optimal management and care for patients with primary mitochondrial disease…”
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Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation by McCormick, Elizabeth M., Lott, Marie T., Dulik, Matthew C., Shen, Lishuang, Attimonelli, Marcella, Vitale, Ornella, Karaa, Amel, Bai, Renkui, Pineda‐Alvarez, Daniel E., Singh, Larry N., Stanley, Christine M., Wong, Stacey, Bhardwaj, Anshu, Merkurjev, Daria, Mao, Rong, Sondheimer, Neal, Zhang, Shiping, Procaccio, Vincent, Wallace, Douglas C., Gai, Xiaowu, Falk, Marni J.

“…Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations given unique features of the mtDNA genome, including maternal…”
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Case 21-2019: A 31-Year-Old Woman with Vision Loss by Matiello, Marcelo, Juliano, Amy F, Bowley, Michael, Karaa, Amel

“…A 31-year-old woman was evaluated because of vision loss, which had developed in the left eye 3 weeks before presentation. Despite the administration of…”
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A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy by Karaa, Amel, Haas, Richard, Goldstein, Amy, Vockley, Jerry, Cohen, Bruce H.

“…Background This study aims to evaluate the effect of subcutaneous (SC) elamipretide dosing on exercise performance using the 6 min walk test (6MWT),…”
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Case 35-2020: A 59-Year-Old Woman with Type 1 Diabetes Mellitus and Obtundation by Caplan, David N, Rapalino, Otto, Karaa, Amel, Rosovsky, Rachel P, Uljon, Sacha

“…A 59-year-old woman with type 1 diabetes and a 2-year history of cognitive decline presented with obtundation. There was diffuse, symmetric hypointensity in…”
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A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008-2015 by Cohen, Bruce, Balcells, Cristy, Hotchkiss, Brian, Aggarwal, Kavita, Karaa, Amel

“…Mitochondrial disease (MD) is a heterogeneous group of disorders characterized by impaired energy production caused by abnormal oxidative phosphorylation…”
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Relapsing remitting multiple sclerosis in progressive external ophthalmoplegia: A report of two cases by Patel, Kevin R, Karaa, Amel, Mateen, Farrah J

“…Evidence from genetic and pathologic studies suggests that mitochondrial dysfunction occurs in multiple sclerosis (MS). Furthermore, cases of MS have been…”
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Diagnosis of 'possible' mitochondrial disease: an existential crisis by Parikh, Sumit, Karaa, Amel, Goldstein, Amy, Bertini, Enrico Silvio, Chinnery, Patrick F, Christodoulou, John, Cohen, Bruce H, Davis, Ryan L, Falk, Marni J, Fratter, Carl, Horvath, Rita, Koenig, Mary Kay, Mancuso, Michaelangelo, McCormack, Shana, McCormick, Elizabeth M, McFarland, Robert, Nesbitt, Victoria, Schiff, Manuel, Steele, Hannah, Stockler, Silvia, Sue, Carolyn, Tarnopolsky, Mark, Thorburn, David R, Vockley, Jerry, Rahman, Shamima

“…Primary genetic mitochondrial diseases are often difficult to diagnose, and the term 'possible' mitochondrial disease is used frequently by clinicians when…”
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Keratoacanthoma: a tumor in search of a classification by Karaa, Amel, Khachemoune, Amor

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Correction to: The evolution of the mitochondrial disease diagnostic odyssey by Thompson, John L P, Karaa, Amel, Pham, Hung, Yeske, Philip, Krischer, Jeffrey, Xiao, Yi, Long, Yuelin, Kramer, Amanda, Dimmock, David, Holbert, Amy, Gorski, Cliff, Engelstad, Kristin M, Buchsbaum, Richard, Rosales, Xiomara Q, Hirano, Michio

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Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum by Cotman, Susan L., Karaa, Amel, Staropoli, John F., Sims, Katherine B.

“…Neuronal ceroid lipofuscinosis (NCL), first clinically described in 1826 and pathologically defined in the 1960s, refers to a group of disorders mostly…”
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The evolution of the mitochondrial disease diagnostic odyssey by Thompson, John L P, Karaa, Amel, Pham, Hung, Yeske, Philip, Krischer, Jeffrey, Xiao, Yi, Long, Yuelin, Kramer, Amanda, Dimmock, David, Holbert, Amy, Gorski, Cliff, Engelstad, Kristin M, Buchsbaum, Richard, Rosales, Xiomara Q, Hirano, Michio

“…Mitochondrial diseases often require multiple years and clinicians to diagnose. We lack knowledge of the stages of this diagnostic odyssey, and factors that…”
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Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment by Politei, Juan M., Bouhassira, Didier, Germain, Dominique P., Goizet, Cyril, Guerrero‐Sola, Antonio, Hilz, Max J., Hutton, Elspeth J., Karaa, Amel, Liguori, Rocco, Üçeyler, Nurcan, Zeltzer, Lonnie K., Burlina, Alessandro

“…Summary Aims Patients with Fabry disease (FD) characteristically develop peripheral neuropathy at an early age, with pain being a crucial symptom of underlying…”
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Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis by Zar-Kessler, Claire, Karaa, Amel, Sims, Katherine Bustin, Clarke, Virginia, Kuo, Braden

“…Fabry disease is a rare X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal…”
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P017: Phenotypes of adults with MPS1 pseudodeficiency variants: Questioning the need to report in newborns by O'Grady, Lauren, Gold, Nina, Karaa, Amel, Zouk, Hana, He, Wei, Zoltick, Emilie, Sahai, Inderneel, Perez, Emma, Green, Robert

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Psychometric performance of the Primary Mitochondrial Myopathy Symptom Assessment (PMMSA) in a randomized, double-blind, placebo-controlled crossover study in subjects with mitochondrial disease by Gwaltney, Chad, Stokes, Jonathan, Aiudi, Anthony, Mazar, Iyar, Ollis, Sarah, Love, Emily, Karaa, Amel, Houts, Carrie R., Wirth, R. J., Shields, Alan L.

“…Background The Primary Mitochondrial Myopathy Symptom Assessment (PMMSA) is a 10-item patient-reported outcome (PRO) measure designed to assess the severity of…”
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Phenotypes of undiagnosed adults with actionable OTC and GLA variants by Gold, Jessica I., Madhavan, Sarina, Park, Joseph, Zouk, Hana, Perez, Emma, Strong, Alanna, Drivas, Theodore G., Karaa, Amel, Yudkoff, Marc, Rader, Daniel, Green, Robert C., Gold, Nina B.

“…Inherited metabolic disorders (IMDs) are variably expressive, complicating identification of affected individuals. A genotype-first approach can identify…”
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Primary mitochondrial disease in the US: Data from patients and physicians' perspective on health care delivery by Karaa, Amel, Goldstein, Amy, Balcells, Cristy, Mann, Kira, Stanley, Laura, Yeske, Philip E., Parikh, Sumit

“…This article presents data that examine the patient's perception of health care delivery for mitochondrial disease in the US. It also presents the opinions of…”
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