Wiener klinische Wochenschrift
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Wien. Klin. Wochenschr. · May 2018
Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss.
Non-syndromic autosomal dominant hearing impairment is characteristically postlingual in onset. Genetic diagnostics are essential for genetic counselling, disease prognosis and understanding of the molecular mechanisms of disease. To date, 36 causative genes have been identified, many in only individual families. Gene selection for genetic screening by traditional methods and genetic diagnosis in autosomal dominant patients has therefore been fraught with difficulty. Whole-exome sequencing provides a powerful tool to analyze all protein-coding genomic regions in parallel, thus allowing the comprehensive screening of all known genes and associated alterations. ⋯ Exome sequencing successfully resolved the genetic diagnosis in a family suffering from autosomal dominant hearing impairment and allowed prediction of purported auditory outcome after cochlear implantation in an index patient. Personalized treatment approaches based on the molecular mechanisms of disease may become increasingly important in the future.
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Wien. Klin. Wochenschr. · May 2018
ReviewS(+)-ketamine : Current trends in emergency and intensive care medicine.
S(+)-ketamine, the pure dextrorotatory enantiomer of ketamine has been available for clinical use in analgesia and anesthesia for more than 25 years. The main effects are mediated by non-competitive inhibition of the N-methyl-D-aspartate (NMDA) receptor but S(+)-ketamine also interacts with opioid receptors, monoamine receptors, adenosine receptors and other purinergic receptors. ⋯ In addition, the neuroprotective properties, bronchodilatory, antihyperalgesic or antiepileptic effects provide interesting therapeutic options. In this article we discuss the numerous effects of S(+)-ketamine under pharmacological and clinical aspects especially for typical indications in emergency medicine as well as intensive care.
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Wien. Klin. Wochenschr. · May 2018
Combined effects of varicocele and cell phones on semen and hormonal parameters.
The objective of this study was to evaluate if there is a combined effect of varicocele and cell phone storage in trousers pockets on semen and hormonal parameters. ⋯ This analysis showed an inverse relation between sperm concentration and degree of varicocele, with lower concentrations in higher grade varicoceles. Testosterone was significantly higher in higher grade varicoceles, which could reflect a compensatory mechanism to the impaired testicular function. Cell phone storage in trousers pockets showed an effect on LH and sperm morphology. A combined effect of varicocele and cell phone storage in trousers pockets was not detected.