Læknablaðið : fylgirit - 01.06.2005, Blaðsíða 17

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

x

Læknablaðið : fylgirit

Beinir tenglar

Ef þú vilt tengja á þennan titil, vinsamlegast notaðu þessa tengla:

Tengja á þennan titil: Læknablaðið : fylgirit
https://timarit.is/publication/991

Tengja á þetta tölublað:

Tengja á þessa síðu:

Tengja á þessa grein:

Vinsamlegast ekki tengja beint á myndir eða PDF skjöl á Tímarit.is þar sem slíkar slóðir geta breyst án fyrirvara. Notið slóðirnar hér fyrir ofan til að tengja á vefinn.