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Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.

Adeline Vanderver, Genevieve Bernard, Guy Helman, Omar Sherbini, Ryan Boeck, Jeffrey Cohn, Abigail Collins, Scott Demarest, Katherine Dobbins, Lisa Emrick, Jamie Fraser, Diane Masser-Frye, Jean Hayward, Swati Karmarkar, Stephanie Keller, Samuel Mirrop, Wendy Mitchell, Sheel Pathak, Elliott Sherr, Keith van Haren, Erica Waters, Jenny L Wilson, Leah Zhorne, Raphael Schiffmann, Marjo S van der Knaap, Amy Pizzino, Holly Dubbs, Justine Shults, Cas Simons, Ryan J Taft, ,

OBJECTIVE:Genome sequencing (GS) is promising for unsolved leukodystrophies, but its efficacy has not been prospectively studied. METHODS:A prospective time-delayed crossover design trial of GS to assess the efficacy of GS as a first-line diagnostic tool for genetic white matter disorders took place between December 1, 2015 and September 27, 2017. ... Read more >>

Ann. Neurol. (Annals of neurology)
[2020, :]

Cited: 0 times

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Natural history of brain lesions in X-linked adrenoleukodystrophy: On-again, off-again.

Robert Thompson Stone, Keith van Haren,

Neurology (Neurology)
[2020, 94(24):1058-1059]

Cited: 0 times

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Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation.

Alexandra L Bey, Mark P Gorman, William Gallentine, Teresa M Kohlenberg, Jennifer Frankovich, Yong-Hui Jiang, Keith Van Haren,

Phenotypic and biological characterization of rare monogenic disorders represents 1 of the most important avenues toward understanding the mechanisms of human disease. Among patients with SH3 and multiple ankyrin repeat domains 3 (SHANK3) mutations, a subset will manifest neurologic regression, psychosis, and mood disorders. However, which patients will be affected, ... Read more >>

Pediatrics (Pediatrics)
[2020, 145(2):]

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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Gillian I Rice, Sehoon Park, Francesco Gavazzi, Laura A Adang, Loveline A Ayuk, Lien Van Eyck, Luis Seabra, Christophe Barrea, Roberta Battini, Alexandre Belot, Stefan Berg, Thierry Billette de Villemeur, Annette E Bley, Lubov Blumkin, Odile Boespflug-Tanguy, Tracy A Briggs, Elise Brimble, Russell C Dale, Niklas Darin, François-Guillaume Debray, Valentina De Giorgis, Jonas Denecke, Diane Doummar, Gunilla Drake Af Hagelsrum, Despina Eleftheriou, Margherita Estienne, Elisa Fazzi, François Feillet, Jessica Galli, Nicholas Hartog, Julie Harvengt, Bénédicte Heron, Delphine Heron, Diedre A Kelly, Dorit Lev, Virginie Levrat, John H Livingston, Itxaso Marti, Cyril Mignot, Fanny Mochel, Marie-Christine Nougues, Ilena Oppermann, Belén Pérez-Dueñas, Bernt Popp, Mathieu P Rodero, Diana Rodriguez, Veronica Saletti, Cia Sharpe, Davide Tonduti, Gayatri Vadlamani, Keith Van Haren, Miguel Tomas Vila, Julie Vogt, Evangeline Wassmer, Arnaud Wiedemann, Callum J Wilson, Ayelet Zerem, Christiane Zweier, Sameer M Zuberi, Simona Orcesi, Adeline L Vanderver, Sun Hur, Yanick J Crow,

IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutières syndrome and Singleton Merten syndrome. Ascertaining patients through a European and North American collaboration, we set out to describe the molecular, clinical and interferon status of a cohort of ... Read more >>

Hum. Mutat. (Human mutation)
[2020, 41(4):837-849]

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Allogeneic HSCT for adult-onset leukoencephalopathy with spheroids and pigmented glia.

Jeffrey M Gelfand, Ariele L Greenfield, Matthew Barkovich, Bryce A Mendelsohn, Keith Van Haren, Christopher P Hess, Gabriel N Mannis,

Adult-onset leukoencephalopathy with spheroids and pigmented glia (ALSP) is an autosomal dominant leukoencephalopathy caused by mutations in colony stimulating factor 1 receptor (CSF1R). Here we report clinical and imaging outcomes following allogeneic haematopoietic stem cell transplantation (HSCT) in two patients with ALSP at the University of California, San Francisco between ... Read more >>

Brain (Brain : a journal of neurology)
[2020, 143(2):503-511]

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Clinical approach to the diagnosis of autoimmune encephalitis in the pediatric patient.

Tania Cellucci, Heather Van Mater, Francesc Graus, Eyal Muscal, William Gallentine, Marisa S Klein-Gitelman, Susanne M Benseler, Jennifer Frankovich, Mark P Gorman, Keith Van Haren, Josep Dalmau, Russell C Dale,

OBJECTIVE:Autoimmune encephalitis (AE) is an important and treatable cause of acute encephalitis. Diagnosis of AE in a developing child is challenging because of overlap in clinical presentations with other diseases and complexity of normal behavior changes. Existing diagnostic criteria for adult AE require modification to be applied to children, who ... Read more >>

Neurol Neuroimmunol Neuroinflamm (Neurology(R) neuroimmunology & neuroinflammation)
[2020, 7(2):]

Cited: 1 time

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Pneumonia Prevention Strategies for Children With Neurologic Impairment.

Jody L Lin, Keith Van Haren, Joseph Rigdon, Olga Saynina, Hannah Song, MyMy C Buu, Yogita Thakur, Nivedita Srinivas, Steven M Asch, Lee M Sanders,

BACKGROUND:Children with neurologic impairment (NI) face high risk of recurrent severe pneumonia, with prevention strategies of unknown effectiveness. We evaluated the comparative effectiveness of secondary prevention strategies for severe pneumonia in children with NI. METHODS:We included children enrolled in California Children's Services between July 1, 2009, and June 30, 2014, ... Read more >>

Pediatrics (Pediatrics)
[2019, 144(4):]

Cited: 1 time

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Incidence, Risk Factors and Outcomes Among Children With Acute Flaccid Myelitis: A Population-based Cohort Study in a California Health Network Between 2011 and 2016.

Miranda S Kane, Chris Sonne, Shiyun Zhu, Amit Malhotra, Keith Van Haren, Kevin Messacar, Carol A Glaser,

BACKGROUND:Acute flaccid myelitis (AFM) is defined as an acute onset of limb weakness with longitudinal spinal gray matter lesions. Reporting bias and misdiagnosis confound epidemiologic studies of AFM. We mitigated these confounders by using a large data set to assess AFM incidence, risk factors and outcomes in a fixed population. ... Read more >>

Pediatr. Infect. Dis. J. (The Pediatric infectious disease journal)
[2019, 38(7):667-672]

Cited: 1 time

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Measuring early lesion growth in boys with cerebral demyelinating adrenoleukodystrophy.

Keith van Haren, Marc Engelen, Nicole Wolf,

Neurology (Neurology)
[2019, 92(15):691-693]

Cited: 0 times

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1901. Safety, Tolerability, and Efficacy of Fluoxetine as an Antiviral for Enterovirus D68 Associated Acute Flaccid Myelitis: A Retrospective Multicenter Cohort Study.

Kevin Messacar, Stefan Sillau, Sarah Hopkins, Catherine Otten, Molly Wilson-Murphy, Brian Wong, Jonathan Santoro, Andrew Treister, Harlori Tokhie, Alcy Torres, Luke Zabrocki, Julia Glanternik, Amanda L Hurst, Jan Martin, Teri Schreiner, Naila Makhani, Roberta DeBiasi, Michael Kruer, Adriana H Tremoulet, Keith Van Haren, Jay Desai, Leslie Benson, Mark Gorman, Mark Abzug, Kenneth Tyler, Samuel Dominguez,

AbstractBackgroundMost patients with enterovirus (EV) D68-associated acute flaccid myelitis (AFM) have long-term disability. No effective therapies have been identified. Fluoxetine is the only FDA-approved medication with antiviral activity against EV-D68. This study retrospectively analyzed the safety, tolerability, and efficacy of fluoxetine for EV-D68-associated AFM.MethodsA multicenter cohort study of US ... Read more >>

Open Forum Infect Dis (Open forum infectious diseases)
[2018, 5(Suppl 1):S546-S546]

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Clinical Subpopulations in a Sample of North American Children Diagnosed With Acute Flaccid Myelitis, 2012-2016.

Matthew J Elrick, Eliza Gordon-Lipkin, Thomas O Crawford, Keith Van Haren, Kevin Messacar, Nicole Thornton, Elizabeth Dee, Annie Voskertchian, Jessica R Nance, Laura S Muñoz, Mark P Gorman, Leslie A Benson, David L Thomas, Carlos A Pardo, Aaron M Milstone, Priya Duggal,

Importance:Acute flaccid myelitis (AFM) is an emerging poliolike illness of children whose clinical spectrum and associated pathogens are only partially described. The case definition is intentionally encompassing for epidemiologic surveillance to capture all potential AFM cases. Defining a restrictive, homogenous subpopulation may aid our understanding of this emerging disease. Objective:To ... Read more >>

JAMA Pediatr (JAMA pediatrics)
[2019, 173(2):134-139]

Cited: 1 time

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Safety, tolerability, and efficacy of fluoxetine as an antiviral for acute flaccid myelitis.

Kevin Messacar, Stefan Sillau, Sarah E Hopkins, Catherine Otten, Molly Wilson-Murphy, Brian Wong, Jonathan D Santoro, Andrew Treister, Harlori K Bains, Alcy Torres, Luke Zabrocki, Julia R Glanternik, Amanda L Hurst, Jan A Martin, Teri Schreiner, Naila Makhani, Roberta L DeBiasi, Michael C Kruer, Adriana H Tremoulet, Keith Van Haren, Jay Desai, Leslie A Benson, Mark P Gorman, Mark J Abzug, Kenneth L Tyler, Samuel R Dominguez,

OBJECTIVE:To determine the safety, tolerability, and efficacy of fluoxetine for proven or presumptive enterovirus (EV) D68-associated acute flaccid myelitis (AFM). METHODS:A multicenter cohort study of US patients with AFM in 2015-2016 compared serious adverse events (SAEs), adverse effects, and outcomes between fluoxetine-treated patients and untreated controls. Fluoxetine was administered at ... Read more >>

Neurology (Neurology)
[2019, 92(18):e2118-e2126]

Cited: 7 times

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Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.

Laura A Adang, Omar Sherbini, Laura Ball, Miriam Bloom, Anil Darbari, Hernan Amartino, Donna DiVito, Florian Eichler, Maria Escolar, Sarah H Evans, Ali Fatemi, Jamie Fraser, Leslie Hollowell, Nicole Jaffe, Christopher Joseph, Mary Karpinski, Stephanie Keller, Ryan Maddock, Edna Mancilla, Bruce McClary, Jana Mertz, Kiley Morgart, Thomas Langan, Richard Leventer, Sumit Parikh, Amy Pizzino, Erin Prange, Deborah L Renaud, William Rizzo, Jay Shapiro, Dean Suhr, Teryn Suhr, Davide Tonduti, Jacque Waggoner, Amy Waldman, Nicole I Wolf, Ayelet Zerem, Joshua L Bonkowsky, Genevieve Bernard, Keith van Haren, Adeline Vanderver, ,

Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients irrespective of the genetic diagnosis. The comfort and quality of life of these children is a primary ... Read more >>

Mol. Genet. Metab. (Molecular genetics and metabolism)
[2017, 122(1-2):18-32]

Cited: 3 times

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Pediatric Bickerstaff brainstem encephalitis: a systematic review of literature and case series.

Jonathan Douglas Santoro, Daniel V Lazzareschi, Cynthia Jane Campen, Keith P Van Haren,

To characterize the phenotype of pediatric Bickerstaff's brainstem encephalitis (BBE) and evaluate prognostic features in the clinical course, diagnostic studies, and treatment exposures.We systematically reviewed PubMed, Web of Science, and SCOPUS databases as well as medical records at the Lucile Packard Children's Hospital to identify cases of pediatric BBE. Inclusion required ... Read more >>

J. Neurol. (Journal of neurology)
[2018, 265(1):141-150]

Cited: 1 time

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Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Thais Armangue, Joseph J Orsini, Asako Takanohashi, Francesco Gavazzi, Alex Conant, Nicole Ulrick, Mark A Morrissey, Norah Nahhas, Guy Helman, Heather Gordish-Dressman, Simona Orcesi, Davide Tonduti, Chloe Stutterd, Keith van Haren, Camilo Toro, Alejandro D Iglesias, Marjo S van der Knaap, Raphaela Goldbach Mansky, Anne B Moser, Richard O Jones, Adeline Vanderver,

BACKGROUND:Aicardi Goutières Syndrome (AGS) is a heritable interferonopathy associated with systemic autoinflammation causing interferon (IFN) elevation, central nervous system calcifications, leukodystrophy and severe neurologic sequelae. An infant with TREX1 mutations was recently found to have abnormal C26:0 lysophosphatidylcholine (C26:0 Lyso-PC) in a newborn screening platform for X-linked adrenoleukodystrophy, prompting analysis ... Read more >>

Mol. Genet. Metab. (Molecular genetics and metabolism)
[2017, 122(3):134-139]

Cited: 0 times

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Decision Making in Adrenoleukodystrophy: When Is a Good Outcome Really a Good Outcome?

Keith Van Haren, Marc Engelen,

JAMA Neurol (JAMA neurology)
[2017, 74(6):641-642]

Cited: 1 time

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Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation With Prenatal Phenotype in 2 Siblings.

Hannah Song, Sina Haeri, Hannes Vogel, Marjo van der Knaap, Keith Van Haren,

We describe 2 male siblings with a severe, prenatal phenotype of vanishing white matter disease and the impact of whole exome sequencing on their diagnosis and clinical care.The 2 children underwent detailed clinical characterization, through clinical and laboratory testing, as well as prenatal and postnatal imaging. Biobanked blood from the ... Read more >>

J. Child Neurol. (Journal of child neurology)
[2017, 32(10):867-870]

Cited: 1 time

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Acute flaccid myelitis: A clinical review of US cases 2012-2015.

Kevin Messacar, Teri L Schreiner, Keith Van Haren, Michele Yang, Carol A Glaser, Kenneth L Tyler, Samuel R Dominguez,

This review highlights clinical features of the increasing cases of acute flaccid paralysis associated with anterior myelitis noted in the United States from 2012 to 2015. Acute flaccid myelitis refers to acute flaccid limb weakness with spinal cord gray matter lesions on imaging or evidence of spinal cord motor neuron ... Read more >>

Ann. Neurol. (Annals of neurology)
[2016, 80(3):326-338]

Cited: 40 times

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Acute disseminated encephalomyelitis: Updates on an inflammatory CNS syndrome.

Daniela Pohl, Gulay Alper, Keith Van Haren, Andrew J Kornberg, Claudia F Lucchinetti, Silvia Tenembaum, Anita L Belman,

Acute disseminated encephalomyelitis (ADEM) is an immune-mediated demyelinating CNS disorder with predilection to early childhood. ADEM is generally considered a monophasic disease. However, recurrent ADEM has been described and defined as multiphasic disseminated encephalomyelitis. ADEM often occurs postinfectiously, although a causal relationship has never been established. ADEM and multiple sclerosis ... Read more >>

Neurology (Neurology)
[2016, 87(9 Suppl 2):S38-45]

Cited: 29 times

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Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.

Guy Helman, Ljubica Caldovic, Matthew T Whitehead, Cas Simons, Knut Brockmann, Simon Edvardson, Renkui Bai, Isabella Moroni, J Michael Taylor, Keith Van Haren, , Ryan J Taft, Adeline Vanderver, Marjo S van der Knaap,

OBJECTIVE:Succinate dehydrogenase-deficient leukoencephalopathy is a complex II-related mitochondrial disorder for which the clinical phenotype, neuroimaging pattern, and genetic findings have not been comprehensively reviewed. METHODS:Nineteen individuals with succinate dehydrogenase deficiency-related leukoencephalopathy were reviewed for neuroradiological, clinical, and genetic findings as part of institutional review board-approved studies at Children's National Health ... Read more >>

Ann. Neurol. (Annals of neurology)
[2016, 79(3):379-386]

Cited: 7 times

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Safety and immunologic effects of high- vs low-dose cholecalciferol in multiple sclerosis.

Elias S Sotirchos, Pavan Bhargava, Christopher Eckstein, Keith Van Haren, Moira Baynes, Achilles Ntranos, Anne Gocke, Lawrence Steinman, Ellen M Mowry, Peter A Calabresi,

OBJECTIVE:To study the safety profile and characterize the immunologic effects of high- vs low-dose cholecalciferol supplementation in patients with multiple sclerosis (MS). METHODS:In this double-blind, single-center randomized pilot study, 40 patients with relapsing-remitting MS were randomized to receive 10,400 IU or 800 IU cholecalciferol daily for 6 months. Assessments were ... Read more >>

Neurology (Neurology)
[2016, 86(4):382-390]

Cited: 38 times

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Acute Flaccid Myelitis of Unknown Etiology in California, 2012-2015.

Keith Van Haren, Patrick Ayscue, Emmanuelle Waubant, Anna Clayton, Heather Sheriff, Shigeo Yagi, Rose Glenn-Finer, Tasha Padilla, Jonathan B Strober, Grace Aldrovandi, Debra A Wadford, Charles Y Chiu, Dongxiang Xia, Kathleen Harriman, James P Watt, Carol A Glaser,

There has been limited surveillance for acute flaccid paralysis in North America since the regional eradication of poliovirus. In 2012, the California Department of Public Health received several reports of acute flaccid paralysis cases of unknown etiology.To quantify disease incidence and identify potential etiologies of acute flaccid paralysis cases with ... Read more >>

JAMA (JAMA)
[2015, 314(24):2663-2671]

Cited: 36 times

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Emerging treatments for pediatric leukodystrophies.

Guy Helman, Keith Van Haren, Maria L Escolar, Adeline Vanderver,

The leukodystrophies are a heterogeneous group of inherited disorders with broad clinical manifestations and variable pathologic mechanisms. Improved diagnostic methods have allowed identification of the underlying cause of these diseases, facilitating identification of their pathologic mechanisms. Clinicians are now able to prioritize treatment strategies and advance research in therapies for ... Read more >>

Pediatr. Clin. North Am. (Pediatric clinics of North America)
[2015, 62(3):649-666]

Cited: 6 times

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Disease specific therapies in leukodystrophies and leukoencephalopathies.

Guy Helman, Keith Van Haren, Joshua L Bonkowsky, Genevieve Bernard, Amy Pizzino, Nancy Braverman, Dean Suhr, Marc C Patterson, S Ali Fatemi, Jeff Leonard, Marjo S van der Knaap, Stephen A Back, Stephen Damiani, Steven A Goldman, Asako Takanohashi, Magdalena Petryniak, David Rowitch, Albee Messing, Lawrence Wrabetz, Raphael Schiffmann, Florian Eichler, Maria L Escolar, Adeline Vanderver, ,

Leukodystrophies are a heterogeneous, often progressive group of disorders manifesting a wide range of symptoms and complications. Most of these disorders have historically had no etiologic or disease specific therapeutic approaches. Recently, a greater understanding of the pathologic mechanisms associated with leukodystrophies has allowed clinicians and researchers to prioritize treatment ... Read more >>

Mol. Genet. Metab. (Molecular genetics and metabolism)
[2015, 114(4):527-536]

Cited: 13 times

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Acute flaccid paralysis with anterior myelitis - California, June 2012-June 2014.

Patrick Ayscue, Keith Van Haren, Heather Sheriff, Emmanuelle Waubant, Paul Waldron, Shigeo Yagi, Cynthia Yen, Anna Clayton, Tasha Padilla, Chao Pan, John Reichel, Kathleen Harriman, James Watt, James Sejvar, William Allan Nix, Daniel Feikin, Carol Glaser, ,

In August 2012, the California Department of Public Health (CDPH) was contacted by a San Francisco Bay area clinician who requested poliovirus testing for an unvaccinated man aged 29 years with acute flaccid paralysis (AFP) associated with anterior myelitis (i.e., evidence of inflammation of the spinal cord involving the grey ... Read more >>

MMWR Morb. Mortal. Wkly. Rep. (MMWR. Morbidity and mortality weekly report)
[2014, 63(40):903-906]

Cited: 44 times

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