Genetic Biomarkers in Epilepsy

The identification of valid biomarkers for outcome prediction of diseases and improvement of drug response, as well as avoidance of side effects is an emerging field of interest in medicine. The concept of individualized therapy is becoming increasingly important in the treatment of patients with epilepsy, as predictive markers for disease prognosis and treatment outcome are still limited. Currently, the clinical decision process for selection of an antiepileptic drug (AED) is predominately based on the patient’s epileptic syndrome and side effect profiles of the AEDs, but not on effectiveness data. Although standard dosages of AEDs are used, supplemented, in part, by therapeutic monitoring, the response of an individual patient to a specific AED is generally unpredictable, and the standard care of patients in antiepileptic treatment is more or less based on trial and error. Therefore, there is an urgent need for valid predictive biomarkers to guide patient-tailored individualized treatment strategies in epilepsy, a research area that is still in its infancy. This review focuses on genomic factors as part of an individual concept for AED therapy summarizing examples that influence the prognosis of the disease and the response to AEDs, including side effects.     

Concurrent stable and unstable cortical correlates of human wrist movements

Cortical activity has been shown to correlate with different parameters of movement. However, the dynamic properties of cortico‐motor mappings still remain unexplored in humans. Here, we show that during the repetition of simple stereotyped wrist movements both stable and unstable correlates simultaneously emerge in human sensorimotor cortex. Using visual feedback of wrist movement target inferred online from MEG, we assessed the dynamics of the tuning properties of two neuronal signals: the MEG signal below 1.6 Hz and within the 4 to 6 Hz range. We found that both components are modulated by wrist movement allowing for closed‐loop inference of movement targets. Interestingly, while tuning of 4 to 6 Hz signals remained stable over time leading to stable inference of movement target using a static classifier, the tuning of cortical signals below 1.6 Hz significantly changed resulting in steadily decreasing inference accuracy. Our findings demonstrate that non‐invasive neuronal population signals in human sensorimotor cortex can reflect a stable correlate of voluntary movements. Hence, we provide first evidence for a stable control signal in non‐invasive human brain‐machine interface research. However, as not all neuronal signals initially tuned to movement were stable across days, a careful selection of features for real‐life applications seems to be mandatory. Hum Brain Mapp 35:3867–3879, 2014. © 2014 Wiley Periodicals, Inc .     

Application of subretinal fluid to close refractory full thickness macular holes: treatment strategies and primary outcome: APOSTEL study

Graefe's Archive for Clinical and Experimental Ophthalmology - Persisting macular holes (PMH) after surgical release of any epiretinal traction of the vitreous and adjacent membrane may rely on...     

Reproducibility and reliability of central corneal thickness determination in more and less profound corneal edema using ultrasound pachymetry,a Scheimpflug camera and anterior segment OCT

Graefe's Archive for Clinical and Experimental Ophthalmology - The purpose of this study is to determine the influence of different degrees of corneal edema on the reliability and...     

Are our expectations bigger than the results we achieve? A comparative study analysing potential advantages of ankle arthroplasty over arthrodesis

Purpose

Prior studies have reported improved gait performance and kinematics after total ankle arthroplasty (TAR) compared to ankle arthrodesis (AAD). Given these findings, AAD has been primarily considered as a salvage procedure that may lead to adjacent joint degeneration.

Methods

A total of 101 TAR and 40 screw arthrodeses were enrolled in a retrospective study with a prospectively designed follow-up examination that included gait analysis and outcome assessment with the AOFAS hindfoot score and FAOS questionnaire.

Results

Significant asymmetry in gait and reduced range of motion compared to normal remained after both procedures. Subjective outcome improved after both procedures, and pain was significantly better after TAR. Limited functional gains after TAR and joint degeneration to the same degree after both procedures was seen in the mid-term. Hindfoot fusion seemed to have a greater impact on postoperative function than ankle arthrodesis.

Conclusion

Considering only minor functional gains of TAR compared to AAD the implantation of current TAR designs in large patient series may be questioned.