No abstract

In this paper we present a new low-cost dry electrode for EEG, that is made of flexible metal-coated polymer bristles. We examine various standard EEG paradigms, such as capturing occipital alpha rhythms, testing for event related potentials in an auditory oddball paradigm and perform a sensory motor rhythm-based event-related (de-) synchronization paradigm to validate the performance of the novel electrodes in terms of signal quality. Our findings suggest, that the dry electrodes we developed result in high quality EEG recordings and are thus suitable for a wide range of EEG studies and BCI applications. Furthermore, due to the flexibility of the novel electrodes a higher comfort is achieved in some subjects, this being essential for long-term use. Background and ObjectiveWhile there has been a recent surge in dry electrode technology with many groups starting research in this domain [1,2,3], dry electrodes have already been proposed since the early 90's [4,5], early pioneering work of capacitive electrodes had already begun in the early 70's [6]. The miniaturization of EEG equipment [7] as well as the wearability and convenience of novel EEG systems will be a vital factor in determining whether EEG-based related BCI technology will be accepted by the wider community and thus gain wide-spread use. Being able to measure high-quality EEG signals through hair, while at the same time not posing any health risks is also very important.Classic gel-based electrodes present a number of inconveniences that have prevented this spread so far. For one there is the time-consuming setup of an EEG cap, but also the gel is wet, it may dry up and requires washing of the hair after use. In addition the drying up gel can lead to varying impedances and the need of periodical recalibration, making long-term monitoring more difficult.

Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in children, but the genetic architecture of this rare disorder remains unknown. We performed a sequencing-based genome-wide association study (seqGWAS) in 132 unrelated male PUV cases and 23,727 controls of diverse ancestry, identifying statistically significant associations with common variants at 12q24.21 (P=7.8x10-12; OR 0.4) and rare variants at 6p21.1 (P=2.0x10-8; OR 7.2), that were replicated in an independent European cohort of 395 cases and 4,151 controls. Fine-mapping and functional genomic data mapped these loci to the transcription factor TBX5 and planar cell polarity gene PTK7, respectively, the encoded proteins of which were detected in the developing urinary tract of human embryos. We also observed enrichment of rare structural variation intersecting with candidate cis-regulatory elements, particularly inversions predicted to affect chromatin looping (P=3.1x10-5). These findings represent the first robust genetic associations of PUV, providing novel insights into the underlying biology of this poorly understood disorder and demonstrate how a diverse ancestry seqGWAS can be used for disease locus discovery in a rare disease.

Background Despite MN being one of the most common causes of nephrotic syndrome worldwide, its biological and environmental determinants are poorly understood in large-part due to it being a rare disease. Making use of the UK Biobank, a unique resource holding a clinical dataset and stored DNA, serum and urine for ~500,000 participants, this study aims to address this gap in understanding. Methods The primary outcome was putative MN as defined by ICD-10 codes occurring in the UK Biobank. Univariate relative risk regression modelling was used to assess the associations between the incidence of MN and related phenotypes with sociodemographic, environmental exposures, and previously described increased-risk SNPs. Results 502,507 patients were included in the study of whom 100 were found to have a putative diagnosis of MN; 36 at baseline and 64 during the follow-up. Prevalence at baseline and last follow-up were 72 and 199 cases/million respectively. At baseline, as expected, the majority of those previously diagnosed with MN had proteinuria, and there was already evidence of proteinuria in patients diagnosed within the first 5 years of follow-up. The highest incidence rate for MN in patients was seen in those homozygous for the high-risk alleles (9.9/100,000 person-years). Conclusion It is feasible to putatively identify patients with MN in the UK Biobank and cases are still accumulating. This study shows the chronicity of disease with proteinuria present years before diagnosis. Genetics plays an important role in disease pathogenesis, with the at-risk group providing a potential population for recall.

Background: Despite MN being one of the most common causes of nephrotic syndrome worldwide, its biological and environmental determinants are poorly understood in large-part due to it being a rare disease.  Making use of the UK Biobank, a unique resource holding a clinical dataset and stored DNA, serum and urine for ~500,000 participants, this study aims to address this gap in understanding. Methods: The primary outcome was putative MN as defined by ICD-10 codes occurring in the UK Biobank.  Univariate relative risk regression modelling was used to assess the associations between the incidence of MN and related phenotypes with sociodemographic, environmental exposures, and previously described increased-risk SNPs. Results: 502,507 patients were included in the study of whom 100 were found to have a putative diagnosis of MN; 36 at baseline and 64 during the follow-up.  Prevalence at baseline and last follow-up were 72 and 199 cases/million respectively.  At baseline, as expected, the majority of those previously diagnosed with MN had proteinuria, and there was already evidence of proteinuria in patients diagnosed within the first 5 years of follow-up.  The highest incidence rate for MN in patients was seen in those homozygous for the high-risk alleles (9.9/100,000 person-years). Conclusion: It is feasible to putatively identify patients with MN in the UK Biobank and cases are still accumulating.  This study shows the chronicity of disease with proteinuria present years before diagnosis. Genetics plays an important role in disease pathogenesis, with the at-risk group providing a potential population for recall.