Since the transition of surgical robot systems into the medical field, physicians have had to develop new dexterity skills. The ideal learning environment for robotic surgery has yet to be discovered. Virtual reality (VR) simulation is a possible safe and economic method.
View Article and Find Full Text PDFBackground: Patients with Jervell and Lange-Nielsen syndrome (JLNS) exhibit severe phenotypes that are characterized by congenital deafness, very long QT intervals, and high risk of life-threatening arrhythmias. Current treatment strategies include high doses of beta-blocker medication, left cardiac sympathetic denervation, and ICD placement, which is challenging in young children.
Objective: The purpose of this study was to evaluate the safety and effect of pacing in addition to beta-blocker treatment in children with JLNS.
Severe to profound hearing impairment (HI) is estimated to affect around 1/2000 young children. Advances in genetics have made it possible to identify several genes related to HI. This information can cast light upon prognostic factors regarding the outcome in cochlear implantation, and provide information both for scientific and genetic counselling purposes.
View Article and Find Full Text PDFScand J Clin Lab Invest
February 2009
Mutations in the KCNQ1, HERG, SCN5A, minK and MiRP1 genes cause long QT syndrome (LQTS), of which there are two forms: the Romano Ward syndrome and the Jervell and Lange-Nielsen syndrome. We have performed DNA sequencing of the LQTS-associated genes in 169 unrelated patients referred for genetic testing with respect to Romano Ward syndrome and in 13 unrelated patients referred for genetic testing with respect to Jervell and Lange-Nielsen syndrome. A total of 37 different mutations in the 5 genes, of which 20 were novel, were identified.
View Article and Find Full Text PDFObjectives: Jervell and Lange-Nielsen syndrome (JLNS) is a rare cause of autosomal recessive inherited deafness. JLNS patients are candidates for cochlear implantation, and represent a group that needs special attention and precautions. The aim of this article is to draw some guidelines for dealing with these patients, and to emphasize the importance of electrocardiography (ECG) screening of congenitally deaf patients.
View Article and Find Full Text PDFBackground: The Björnstad syndrome, an autosomal recessive disorder associated with sensorineural hearing loss and pili torti, is caused by mutation of a previously unidentified gene on chromosome 2q34-36.
Methods: Refined genetic mapping and DNA sequencing of 44 genes between D2S2210 and D2S2244 revealed BCS1L mutations. Functional analyses elucidated how BCS1L mutations cause the Björnstad syndrome.
Acta Anaesthesiol Scand
February 2003
Background: Finnmark is a rural and remote area in Norway with a sparse population and long distances. Trauma-related mortality has been consistently above the Norwegian national average for the last 20 years. Although the causes of death are well established, very little is known about the time and place of death.
View Article and Find Full Text PDFBackground: Failure in regression of the thyroglossal duct is one of the most common reasons for midline swellings in the neck. Several authors have described recurrent thyroglossal duct remnants with persisting draining sinuses. However, few have described accessory salivary glands that drain into the thyroglossal duct.
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