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Species | Felicia B AxelrodSummaryAffiliation: New York University Country: USA Publications
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Publications
Pediatric autonomic disordersFelicia B Axelrod
Dysautonomia Treatment and Evaluation Center, Department of Pediatrics and Neurology, New York University School of Medicine, 530 First Ave, Suite 9Q, New York, New York 10016, USA
Pediatrics 118:309-21. 2006..To illustrate further the breadth and complexities of autonomic dysfunction, some pediatric disorders are described, concentrating on those that present at birth or appear in early childhood...- Hereditary sensory and autonomic neuropathies: types II, III, and IVFelicia B Axelrod
Department of Pediatrics, New York University School of Medicine, New York, USA
Orphanet J Rare Dis 2:39. 2007..Treatments for all these disorders are supportive... - Familial dysautonomia: a review of the current pharmacological treatmentsFelicia B Axelrod
Department of Pediatrics, New York University School of Medicine, 530 First Avenue, New York, NY 10016, USA
Expert Opin Pharmacother 6:561-7. 2005..With the identification of the familial dysautonomia gene, it has been suggested that it may be possible to treat patients by modifying production and expression of the genetic product... - Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expressionFelicia B Axelrod
Dept of Pediatrics, New York University School of Medicine, New York, NY, USA
Clin Auton Res 15:284-91. 2005..Our data suggest that fludrocortisone has clinical efficacy despite negative in vitro observations on gene expression... - A world without pain or tearsFelicia B Axelrod
Dysautonomia Treatment and Evaluation Center, NYU Medical Center, 530 First Avenue, Suite 9Q, New York, NY 10016, USA
Clin Auton Res 16:90-7. 2006..This article reviews the current supportive treatment modalities and their rationale, as well as the suggested new treatments that may alter the function and prognosis of an individual affected with FD... - Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicingGabrielle Gold-von Simson
Department of Pediatrics, New York University School of Medicine, New York, New York 10016, USA
Pediatr Res 65:341-6. 2009..Furthermore, our findings support our hypothesis that treatments, which target a particular splicing mutation, can be successfully developed... - Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomiaFelicia B Axelrod
Department of Pediatrics, New York University School of Medicine, New York, New York 10016, USA
Pediatr Res 70:480-3. 2011..This is the first report of a drug that produces in vivo mRNA splicing changes in individuals with FD and supports future long-term trials to determine whether kinetin will prove therapeutic in FD patients... - IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomiaGabrielle Gold-von Simson
Department of Pediatrics, New York University School of Medicine, New York, New York 10016, USA
Pediatr Res 63:186-90. 2008..Levels of IKBKAP mRNA in peripheral blood leukocytes can be used to assess molecular response to therapies aimed at enhancing exon 20 inclusion and increasing cellular levels of ELP1/IKAP... - Neoplasia in familial dysautonomia: a 20-year review in a young patient populationGabrielle Gold-von Simson
New York University School of Medicine, Department of Pediatrics, New York, NY 10016, USA
J Pediatr 155:934-6. 2009..We hypothesize that the IkappaB Kinase-associated protein gene mutation, which causes aberrant RNA splicing in patients with familial dysautonomia, may contribute to tumorigenesis in this genetically homogenous patient population... - Familial dysautonomia: update and recent advancesGabrielle Gold-von Simson
New York University Medical Center, Familial Dysautonomia Treatment and Evaluation Center, New York, New York, USA
Curr Probl Pediatr Adolesc Health Care 36:218-37. 2006 - Assessing function and pathology in familial dysautonomia: assessment of temperature perception, sweating and cutaneous innervationMax J Hilz
Department of Neurology, New York University Medical Center, 550 First Avenue, Suite NB 7W11, New York, NY, 10016, USA
Brain 127:2090-8. 2004..Decreased SP and CGRP-ir nerves suggest that the FD gene mutation causes secondary neurotransmitter depletions. Empty Schwann cell sheaths and VIP-ir nerves suggest active denervation and regeneration... - A reinforced suture line prevents recurrence after fundoplication in patients with familial dysautonomiaEvan P Nadler
Division of Pediatric Surgery, Department of Surgery, New York University School of Medicine, New York, NY 10016, USA
J Pediatr Surg 42:653-6. 2007..We reviewed our results with adaptations to the Nissen fundoplication to determine which would be most effective in preventing the need for reoperation... - Cushing syndrome from topical foam steroid use in an adolescent maleGabrielle Gold-von Simson
Department of Pediatrics, New York University School of Medicine, New York, USA
Clin Pediatr (Phila) 45:97-100. 2006 - Terminal vessel hyperperfusion despite organ hypoperfusion in familial dysautonomiaBrigitte Stemper
Department of Neurology, New York University, New York, NY, USA
Clin Sci (Lond) 105:295-301. 2003..Both the reduced limb perfusion and the dysfunctional end-organ blood supply in FD patients are likely to be major contributors to the vasomotor instability observed in these subjects, particularly during periods of stress... - Inherited autonomic neuropathiesFelicia B Axelrod
Department of Neurology, New Yourk University School of Medicine, New York, NY 10016, USA
Semin Neurol 23:381-90. 2003..Replacement or definitive therapies are not available for any of the disorders so that treatment remains supportive and directed toward specific symptoms... - Neuroimaging supports central pathology in familial dysautonomiaFelicia B Axelrod
Department of Pediatrics, New York University School of Medicine, 530 First Avenue, Suite 9Q, New York, NY 10016, USA
J Neurol 257:198-206. 2010..These neuroimaging results are consistent with clinical visual abnormalities and gait disturbance. Furthermore the frontal lobe atrophy is consistent with previously reported neuropsychological deficits... - Familial dysautonomiaFelicia B Axelrod
Departments of Pediatrics and Neurology, New York University Medical Center, 530 First Avenue, New York, New York 10016, USA
Muscle Nerve 29:352-63. 2004..About 40% of patients are over age 20 years. The cause of death is usually pulmonary failure, unexplained sudden deaths, or renal failure. With the discovery of the genetic defect, definitive treatments are anticipated... - Assessing efficacy of high-frequency chest wall oscillation in patients with familial dysautonomiaPhilip Giarraffa
Dysautonomia Center, New York University Medical Center, New York University School Medicine, NY, USA
Chest 128:3377-81. 2005..0002). CONCLUSION: In this limited study of FD patients, HFCWO effected significant improvements in all measured health outcomes and oxygen saturation; FVC and PEFR were the pulmonary function measures demonstrating sustained improvement... - Peripheral arthropathy in hereditary sensory and autonomic neuropathy types III and IVDavid S Feldman
Division of Pediatric Orthopaedic Surgery, New York University Hospital for Joint Diseases, New York, NY 10003, USA
J Pediatr Orthop 29:91-7. 2009.... - Pregabalin: a new approach to treatment of the dysautonomic crisisFelicia B Axelrod
Department of Pediatrics, New York University School of Medicine, New York, New York 10016, USA
Pediatrics 124:743-6. 2009..Nausea and overt crises markedly decreased in 13 (87%) of these patients and the overall assessments of benefit were extremely favorable, suggesting that pregabalin may be a potentially useful therapeutic agent for this disorder... - Pacemakers in patients with familial dysautonomia--a review of experience with 20 patientsGabrielle Gold-von Simson
Dept of Pediatrics, New York University School of Medicine, New York, NY, USA
Clin Auton Res 15:15-20. 2005..Pacemaker placement may protect FD patients from fatal bradyarrhythmia and may decrease the incidence of syncope. However, data are limited and prospective analysis is needed... - Clinical neuro-ophthalmic findings in familial dysautonomiaCarlos E Mendoza-Santiesteban
Dysautonomia Center, NYU Langone Medical Center, New York University, New York, NY, USA
J Neuroophthalmol 32:23-6. 2012..To define the clinical neuro-ophthalmic abnormalities of patients with familial dysautonomia (FD)... - Survival in familial dysautonomia: Impact of early interventionFelicia B Axelrod
Department of Pediatrics, New York University School of Medicine, New York City, New York, USA
J Pediatr 141:518-23. 2002.... - Respiratory and cerebrovascular responses to hypoxia and hypercapnia in familial dysautonomiaLuciano Bernardi
New York University Medical Center, New York University School of Medicine, New York, USA
Am J Respir Crit Care Med 167:141-9. 2003..Higher resting BP delays occurrence of syncope during hypoxia. Therapeutic measures preventing hypoxia/hypocapnia may correct cardiovascular accidents in patients with FD... - Familial dysautonomia's impact on quality of life in childhood, adolescence, and adulthoodStephen A Sands
Department of Pediatrics, Herbert Irving Child and Adolescent Oncology Center, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Acta Paediatr 95:457-62. 2006..To evaluate the quality of life (QoL) of children, adolescents, and adults treated for familial dysautonomia (FD), a pervasive neurological disorder... - Growth hormone treatment in children with familial dysautonomiaManmohan K Kamboj
Department of Pediatrics, New York University Medical Center, New York, New York 10016, USA
J Pediatr 144:63-7. 2004..CONCLUSION: The data demonstrate that GH treatment in patients with FD may increase growth velocity, at least in the short term. This experiential data supports a future prospective study... - Complicated peptic ulcer disease in three patients with familial dysautonomiaDavid W Wan
Division of Gastroenterology, Department of Medicine, NYU Langone Medical Center, New York, NY, USA
J Clin Gastroenterol 45:611-3. 2011..Here, we present the first 3 instances of gastric ulcers in patients with FD and discuss their common presenting features and the special management that was required... - Renal transplantation in familial dysautonomia: report of two cases and review of the literatureYelena Rekhtman
Department of Medicine, Division of Nephrology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Clin J Am Soc Nephrol 5:1676-80. 2010..Transplant was performed after 3 months on intermittent hemodialysis (HD) in the first case and after 1 month on twice-weekly continuous veno-venous hemodialysis (CVVHD) in the second case... - Gastroesophageal reflux in familial dysautonomia: correlation with crisis frequency and sensory dysfunctionVinay Sundaram
Department of Neurology, New York University School of Medicine, New York, New York, USA
J Pediatr Gastroenterol Nutr 40:429-33. 2005..In addition, the authors demonstrate that fundoplication does not alleviate the central autonomic cause of retching, the dysautonomic crisis... - Anesthesia management of familial dysautonomiaJennie Ngai
Department of Anesthesia, New York University School of Medicine, New York, USA
Paediatr Anaesth 16:611-20. 2006..This article reviews clinical features of FD that could potentially affect anesthetic management and outlines our present practices... - Extensive Riga-Fede disease of the lip and tongueAndrea L Zaenglein
Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York 10016, USA
J Am Acad Dermatol 47:445-7. 2002..We report the case of a 10-month-old boy with extensive Riga-Fede disease involving the lip and tongue that prompted a diagnosis of congenital autonomic dysfunction with universal pain loss... - Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANsFelicia B Axelrod
Department of Pediatrics, New York University School of Medicine, NY 10016, USA
Clin Auton Res 12:I2-14. 2002 - Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomiaMath P Cuajungco
Harvard Institute of Human Genetics, Harvard Medical School, Boston, MA, USA
Am J Hum Genet 72:749-58. 2003..Therefore, exploration of methods to increase the WT:MU IKBKAP transcript ratio in the nervous system offers a promising approach for developing an effective therapy for patients with FD... - Orthostatic challenge reveals impaired vascular resistance control, but normal venous pooling and capillary filtration in familial dysautonomiaClive M Brown
Autonomic Laboratory, Department of Neurology, University of Erlangen Nuremberg, Schwabachanlage 6, 91054 Erlangen, Germany
Clin Sci (Lond) 104:163-9. 2003..This may be due, in part, to a preserved myogenic response to increased vascular pressure in the dependent vascular beds... - Genetic disorders as models to understand autonomic dysfunctionFelicia B Axelrod
Clin Auton Res 12:I1. 2002 - Cardiac sympathetic hypo-innervation in familial dysautonomiaDavid S Goldstein
Clinical Neurocardiology Section, National Institute of Neurological Disorders and Stroke, NIH, 10 Center Drive MSC 1620, Building 10 Room 6N252, Bethesda, MD 20892 1620, USA
Clin Auton Res 18:115-9. 2008..Whether such loss extends to sympathetic innervation of the heart has been unknown. This study used 6-[(18)F]fluorodopamine neuroimaging to assess cardiac sympathetic innervation and function in FD... - Identification of the first non-Jewish mutation in familial DysautonomiaMaire Leyne
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, USA
Am J Med Genet A 118:305-8. 2003..In light of this fact, the diagnostic criteria for FD must be expanded. Furthermore, in order to ensure carrier identification in all ethnicities, this mutation must now be considered when screening for FD... - Hereditary dysautonomias: current knowledge and collaborations for the futureMath P Cuajungco
Harvard Institute of Human Genetics, 77 Avenue Louis Pasteur, HIM Building, Room 422, Boston, MA 02115, USA
Clin Auton Res 13:180-95. 2003.... - Rescue of a human mRNA splicing defect by the plant cytokinin kinetinSusan A Slaugenhaupt
Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Charlestown, MA 02129, USA
Hum Mol Genet 13:429-36. 2004..Further, kinetin should be explored as a treatment for increasing the level of normal IKAP in FD, and for other splicing disorders that may share a similar mechanism... - Effect of physical countermaneuvers on orthostatic hypotension in familial dysautonomiaMarcin Tutaj
Department of Neurology, Jagiellonian University, Botaniczna 3, 31503, Krakow, Poland
J Neurol 253:65-72. 2006..Suitability and effectiveness of a specific countermaneuver depends on the orthopedic or neurological complications of each FD patient and must be individually tested before a therapeutic recommendation can be given... - Plasma catechols in familial dysautonomia: a long-term follow-up studyDavid S Goldstein
Clinical Neurocardiology Section, National Institute of Neurological Disorders and Stroke, NIH, Building 10 Room 6N252, 10 Center Drive MSC 1620, Bethesda, MD 20892 1620, USA
Neurochem Res 33:1889-93. 2008..In FD, plasma catechol profiles are sufficiently stable, at least over a decade, to be used as a biomarker of disease involvement. An increasing DOPA:DHPG ratio suggests slight but consistent, progressive loss of noradrenergic neurons...