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
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.
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Wien. Klin. Wochenschr. · Apr 2018
ReviewCrystalloid fluid choice in the critically ill : Current knowledge and critical appraisal.
Intravenous infusion of crystalloid solutions is one of the most frequently administered medications worldwide. Available crystalloid infusion solutions have a variety of compositions and have a major impact on body systems; however, administration of crystalloid fluids currently follows a "one fluid for all" approach than a patient-centered fluid prescription. Normal saline is associated with hyperchloremic metabolic acidosis, increased rates of acute kidney injury, increased hemodynamic instability and potentially mortality. ⋯ The term "buffered solutes" only refers to the concept of acid-buffering in infusion fluids but this does not necessarily imply that the solutes have similar physiological impacts. The currently available data indicate that balanced infusates might have some advantages; however, evidence still is inconclusive. Taking the available evidence together, there is no single fluid that is superior for all patients and settings, because all currently available infusates have distinct differences, advantages and disadvantages; therefore, it seems inevitable to abandon the "one fluid for all" strategy towards a more differentiated and patient-centered approach to fluid therapy in the critically ill.
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Wien. Klin. Wochenschr. · Mar 2018
Practice Guideline Comparative StudyThe 2017 ESC/EACTS guidelines on the management of valvular heart disease : What is new and what has changed compared to the 2012 guidelines?
Numerous new data on the diagnosis and management of valvular heart disease published since 2012 made an update of the practice guidelines of the European Society of Cardiology and European Association of Cardiothoracic Surgery necessary. This was particularly the case for the use of catheter interventional treatment, indications for intervention in asymptomatic patients, medical treatment and organization of care. This review summarizes the most important changes in the recommendations.
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Wien. Klin. Wochenschr. · Mar 2018
Femoral access site closure without prior femoral angiography : A retrospective analysis.
Although guideline recommendations have shifted towards a transradial route, femoral puncture is still an established vascular access, especially for complex coronary interventions. The FemoSeal™ vascular closure device (FVCD) helps to reduce femoral compression time and access site complications after removal of the catheter sheath. To ensure safe use, an angiography of the femoral artery prior to FVCD deployment is recommended by the manufacturer. We postulate that omitting this angiography does not relevantly increase the risk for vascular complications. ⋯ Closure of the femoral access site after coronary angiography using the FVCD can be safely performed without femoral angiography; however, due to an increased risk for the formation of pseudoaneurysms we recommend the transradial access in situations with increased bleeding risk.