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Improvement of daytime hypercapnia with nocturnal non-invasive ventilation in familial dysautonomia

  • Horacio KaufmannEmail author
  • Lucy Norcliffe-Kaufmann
  • Jose-Alberto Palma
Letter to the Editor

Notes

Funding

National Institutes of Health (U54-NS065736-01) and Familial Dysautonomia Foundation, Inc.

Compliance with ethical standards

Conflict of interest

Dr. Kaufmann receives funding support from the Familial Dysautonomia Foundation and is Editor in Chief of Clinical Autonomic Research. Dr. Palma receives funding support from the Familial Dysautonomia Foundation and is Managing Editor of Clinical Autonomic Research. Dr. Norcliffe-Kaufmann receives funding support from the Familial Dysautonomia Foundation.

References

  1. 1.
    Norcliffe-Kaufmann L, Slaugenhaupt SA, Kaufmann H (2017) Familial dysautonomia: history, genotype, phenotype and translational research. Prog Neurobiol 152:131–148CrossRefGoogle Scholar
  2. 2.
    Palma JA, Norcliffe-Kaufmann L, Perez MA, Spalink CL, Kaufmann H (2017) Sudden unexpected death during sleep in familial dysautonomia: a case-control study. Sleep 40:zsx083.  https://doi.org/10.1093/sleep/zsx083
  3. 3.
    Singh K, Palma JA, Kaufmann H, Tkachenko N, Norcliffe-Kaufmann L, Spalink C, Kazachkov M, Kothare SV (2018) Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia. Sleep Med 45:33–38CrossRefGoogle Scholar
  4. 4.
    Bernardi L, Hilz M, Stemper B, Passino C, Welsch G, Axelrod FB (2003) Respiratory and cerebrovascular responses to hypoxia and hypercapnia in familial dysautonomia. Am J Respir Crit Care Med 167:141–149CrossRefGoogle Scholar
  5. 5.
    Edelman NH, Cherniack NS, Lahiri S, Richards E, Fishman AP (1970) The effects of abnormal sympathetic nervous function upon the ventilatory response to hypoxia. J Clin Investig 49:1153–1165CrossRefGoogle Scholar
  6. 6.
    Filler J, Smith AA, Stone S, Dancis J (1965) Respiratory control in familial dysautonomia. J Pediatr 66:509–516CrossRefGoogle Scholar
  7. 7.
    McNicholas WT, Rutherford R, Grossman R, Moldofsky H, Zamel N, Phillipson EA (1983) Abnormal respiratory pattern generation during sleep in patients with autonomic dysfunction. Am Rev Respir Dis 128:429–433CrossRefGoogle Scholar
  8. 8.
    Hukins CA, Hillman DR (2000) Daytime predictors of sleep hypoventilation in Duchenne muscular dystrophy. Am J Respir Crit Care Med 161:166–170CrossRefGoogle Scholar
  9. 9.
    Ward S, Chatwin M, Heather S, Simonds AK (2005) Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia. Thorax 60:1019–1024CrossRefGoogle Scholar
  10. 10.
    Dempsey JA, Smith CA (2014) Pathophysiology of human ventilatory control. Eur Respir J 44:495–512CrossRefGoogle Scholar
  11. 11.
    Kawata N, Terada J, Tatsumi K (2016) Persistent daytime hypercapnia predicts poor prognosis in OSAS undergoing CPAP therapy. Eur Respir J 48:PA3424Google Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Neurology, Dysautonomia CenterNew York University School of MedicineNew YorkUSA

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