Læknablaðið : fylgirit - 01.06.2005, Blaðsíða 17

ABSTRACTS / XXIX CONGRESS OF THE NORDIC ASSOCIATION OF OTOLARYNGOLOGY
since patients with GER and obstructive sleep apnea syndrome
(OSAS) share similar contributing factors such as age and obesity,
and some common aspect of pathogenesis. First, sleep itself can
contribute to GER and facilitate it by a decrease in the lower
esophageal sphincter tone and other pharmacological and gastric
factors (GER). Secondly, episodes of upper airway obstruction
during sleep are associated with large intrathoracic/esophageal
negative pressures swings, which results in increased transdia-
phragmatic pressure gradient, and may lead to regurgitation of
the gastric acid into the esophagus. Such sleep-related GER
could potentially cause respiratory dysfunction, bronchoconstric-
tion, coughing, wheezing, laryngospasm and sleep disturbance.
There are reports indicating that patients who snore, indepen-
dently of whether or not they have sleep apnea, frequently have
episodes of reflux defined as pH < 4.
If a significant association between OSAS and GER is found,
traditional evaluation and treatment of patients with reflux may
change by adding sleep investigations and considering therapeutic
trials of continuous positive airway pressure (CPAP), particularly
since beneficial effects of CPAP in patients with GER have
already been reported.
S-VI HEARING AND GENETICS
Abstract no.: 021
Cochlear implants. What every ENT doctor should know
Anders Freijd, MD.PhD. Cochlear Implant Unit, Karolinska University
Hospital/Huddinge, Stockholm, Sweden
The number of patients with cochlear implants (CI) is rap-
idly increasing. The estimated number worldwide is more than
100.000. Children are receiving CI younger age than before, often
at less than one year.
The aim of this speech is
1. to give an overview of the current criteria for CI in children
and adults,
2. a summary of results
3. guidelines to some clinical situations in patients with CI
4. differences between the CI brands
5. future development
Abstract no.: 022
Genetics in hearing loss
Claes Möller, Professor, Sahlgrenska University hospital, Göteborg,
Sweden
Genetic research during the last decade has revealed new and
exciting insights in the aetiology of hearing loss. The proportion of
genetic hearing loss can today be estimated to be around 60-70 per
cent of all hearing losses. This has been confirmed in congenital
hearing loss, but there are reasons to believe that acquired hear-
ing loss and aged related hearing loss to a substantial part can be
caused by genetic deficiencies. It is today estimated that 300-400
different genetic aetiologies can cause hearing loss.
Congenital hearing loss is one of the most common severe
deficiencies and the prevalence in most countries is around 2/1000
new-born. One genetic hearing loss (Connexin 26, GJB2) seems
to be the most prevalent. In some countries Connexin 26 is the
cause of around 25 per cent of all congenital hearing loss. A large
proportion (30 per cent) of congenital hearing loss may be part
of a syndrome. Some syndromes like Usher, Alport, branchio-
oto-renal (BOR), Alström and others are fairy well characterised
both clinically and genetically and the gene has been cloned in
many syndromes. These new insights are providing new diagnostic
tools, better prognosis and rehabilitation and hopefully treatment
and cure. These new ethical questions need to be addressed. The
current knowledge of genetics in hearing loss as well as some future
aspects will be presented and discussed in this presentation.
Abstract no.: 023
Genetics of Common Disease
Hákon Hákonarson, deCode Genetics, Reykjavík, Iceland
deCODE has compiled the world’s largest database of clinical
and genetic information, together with comprehensive data on
the family history and structure of the population of Iceland.
The unique combination of these resources, when coupled to
high-throughput gene expression studies, provides a competitive
advantage in the race to uncover disease-causing variations of the
human genome. The powerful combination of the proprietary
genealogical database, innovative bioinformatics resources, when
combined with ultra-high throughput genotyping, gene array
and proteomics facilities, provides a focused strategy to pinpoint
the genetic causes of common human diseases. This approach is
designed to identify disease-causing genes that generate validated
drug targets and genes responsible for differential drug response,
thus enabling stratified clinical trials to target those patients who
are most likely to respond. Enrichment of the study cohort with
carriers of ‘at-risk’ variants in genes that reside within and/or
influence the biological pathway targeted by the drug candidate,
would be expected to lower the risk of drug failure, while both
delivering faster and better results at lower costs. deCODE has
pinpointed several disease-causing genes that that harbour at-
risk variants that also influence drug response. In this regard,
deCODE recently identified a variant of the 5-lipoxygenase
activating protein gene (FLAP) that predisposes to myocardial
infarction. The gene was mapped with a genome wide linkage
scan and without any assumption about the biological path-
ways contributing to the pathogenesis of myocardial infarction
deCODE has shown that in patients with the at-risk variant of the
FLAP gene, the inhibitor of FLAP, DG-031 led to significant and
dose-dependent suppression of biomarkers that are associated
with increased risk of cardiovascular events.
Læknablaðið/Fylgirit 51 2005/91 17