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3 results

  • Chapter 3 - Genome-wide association study (GWAS) approaches to sleep phenotypes

  • from Section 1 - Generalprinciples of genetics and genomics
  • Edited by Paul Shaw, Mehdi Tafti, Michael J. Thorpy
  • Book:
    The Genetic Basis of Sleep and Sleep Disorders
    Published online:
    05 November 2013
    Print publication:
    24 October 2013, pp 22-32

  • Summary

    Restless legs syndrome (RLS) is very common in older subjects, particularly in Western countries such as the United States. RLS can lead to severe insomnia and subsequent daytime hypersomnia. RLS resulted in the first successful results from a genome-wide association study (GWAS) in the field of sleep disorders. Insomnia can present as a primary disorder or as a symptom of comorbid conditions such as chronic pain. Comorbid insomnia is more common in older adults, which in part is a reflection of higher prevalence of comorbid medical conditions and significant progress has been made in identifying the genetic basis of some forms of sleep disorder such as RLS and narcolepsy, the genetic basis of obstructive sleep apnea (OSA) remains to be determined. In the sleep disorders, progress has been made in understanding the etiology of narcolepsy and RLS largely through the application of genome-wide association studies to the phenotypes.

  • Obliterative otosclerosis

  • Denis Ayache, Joseph Sleiman, Isabelle Plouin-Gaudon, Patrick Klap, Pierre Elbaz
  • Journal:
    The Journal of Laryngology & Otology / Volume 113 / Issue 6 / June 1999
    Published online by Cambridge University Press:
    29 June 2007, pp. 512-514
    Print publication:
    June 1999

  • From January 1990 to December 1996, 293 primary stapedectomies for otosclerosis were performed, among which 14 had obliterative otosclerosis (4.7 per cent). Probability of bilateral obliterative disease was 50 per cent. With this particular condition, a drill-out procedure was used to perform either a stapedectomy or a stapedotomy. In two patients with bilateral ‘far-advanced otosclerosis’, surgery was effective in enabling the patient to benefit from hearing-aids. In patients with a measurable hearing-loss, an air-bone gap closure to within 10 dB was achieved in 62.5 per cent of the cases and to within 10–20 dB in 37.5 per cent of the cases, with no deterioration of air-conduction thresholds at 8 kHz. A mild sensorineural hearing loss at 4 kHz was observed in 25 per cent of the cases. There was no statistical difference between stapedectomy and stapedotomy. According to these results, the drill-out technique is a safe and effective procedure in cases of obliterative otosclerosis.