Oligonucleotide-templated lateral flow assays for amplification-free sensing of circulating microRNAs

Herein we demonstrate the first example of oligonucleotide-templated reaction (OTR) performed on paper, using lateral flow to capture and concentrate specific nucleic acid biomarkers on a test line. Quantitative analysis, using a low-cost benchtop fluorescence reader showed very high specificity down to the single nucleotide level and proved sensitive enough for amplification-free, on-chip, detection of endogenous concentrations of miR-150-5p, a recently identified predictive blood biomarker for preterm birth

Face Inversion Reduces the Persistence of Global Form and Its Neural Correlates

Face inversion produces a detrimental effect on face recognition. The extent to which the inversion of faces and other kinds of objects influences the perceptual binding of visual information into global forms is not known. We used a behavioral method and functional MRI (fMRI) to measure the effect of face inversion on visual persistence, a type of perceptual memory that reflects sustained awareness of global form. We found that upright faces persisted longer than inverted versions of the same images; we observed a similar effect of inversion on the persistence of animal stimuli. This effect of inversion on persistence was evident in sustained fMRI activity throughout the ventral visual hierarchy, including the lateral occipital area (LO), two face-selective visual areas—the fusiform face area (FFA) and the occipital face area (OFA)—and several early visual areas. V1 showed the same initial fMRI activation to upright and inverted forms but this activation lasted longer for upright stimuli. The inversion effect on persistence-related fMRI activity in V1 and other retinotopic visual areas demonstrates that higher-tier visual areas influence early visual processing via feedback. This feedback effect on figure-ground processing is sensitive to the orientation of the figure

Platforms for bioorthogonal oligonucleotide-templated reactions: Translating Concepts into devices

The exponential improvements made in DNA sequencing technologies, together with the rapidly declining associated costs, has increasingly led to the expansion of the field of personalised genomic medicine. Changes in the sequence or copy number of specific deoxyribonucleic acid (DNA) or ribonucleic acid (RNA) molecules represent key signatures for the diagnosis, prognosis, classification and monitoring of a broad range of pathologies, most notably cancer. Technologies that can detect these changes require analytical tools that can detect DNA or RNA with high sensitivity and high specificity. Sensing based on bioorthogonal oligonucleotide-templated reactions (OTRs) has been recognised as an elegant strategy that satisfies these criteria and was successfully used for the quantitative detection of nucleic acids both in vitro and in vivo. Herein, we will focus on recent efforts to implement bioorthogonal OTRs into clinically useful biosensors using probes immobilised on or embedded in customised materials and platforms

Show Me What You Mean! Exploiting Domain Semantics in Ontology Visualization

Ontologies build the backbone for many life-sciences applications. These ontologies, however, are represented in XML based languages that are meant for machine-consumption and hence are difficult for humans to comprehend. For a meaningful visualization of these ontologies, it is important that the display of entities and relationships captures the cognitive representation of the domain as perceived by the domain experts. In this paper we present OntoVista, an ontology visualization tool that is adaptable to the needs of different domains, especially in the life sciences. While keeping the graph structures as the predominant model, we provide a semantically enhanced graph display that gives users a more intuitive way of interpreting nodes and their relationships. Additionally, OntoVista provides comfortable interfaces for searching, semantic edge filtering and quick-browsing of ontologies. To this end, we extended the Jambalaya plugin for Protege to allow for customization and integration of different layouts. As a use case, we demonstrate how the ontology encoding of complex carbohydrate structures is transformed into a standard graphical representation (David Goldberg 2005) of carbohydrates familiar to biochemists

Show Me What You Mean! Exploiting Domain Semantics in Ontology Visualization

Ontologies build the backbone for many life-sciences applications. These ontologies, however, are represented in XML based languages that are meant for machine-consumption and hence are difficult for humans to comprehend. For a meaningful visualization of these ontologies, it is important that the display of entities and relationships captures the cognitive representation of the domain as perceived by the domain experts. In this paper we present OntoVista, an ontology visualization tool that is adaptable to the needs of different domains, especially in the life sciences. While keeping the graph structures as the predominant model, we provide a semantically enhanced graph display that gives users a more intuitive way of interpreting nodes and their relationships. Additionally, OntoVista provides comfortable interfaces for searching, semantic edge filtering and quick-browsing of ontologies. To this end, we extended the Jambalaya plugin for Protege to allow for customization and integration of different layouts. As a use case, we demonstrate how the ontology encoding of complex carbohydrate structures is transformed into a standard graphical representation (David Goldberg 2005) of carbohydrates familiar to biochemists

A rare treatable cause for atypical frontotemporal dementia with multiple fractures in a young female

Frontal and temporal lobe involvement in young people is seen in infections like neurosyphilis, Vitamin B12 deficiency, NPH, tumors and neurometabolic disorders apart from neurodegenerative dementias. Involvement of other parts of neuraxis in addition to Fronto temporal features is a clue for the specific diagnosis. Cerebro tendinous xantamatosis (CTX) is a rare treatable inborn error of bile acid metabolism. Reported average delay from onset of symptoms to diagnosis is about 16 years as per reports. A patient responds very well to treatment, if diagnosed before significant neurological damage had occurred. 40 year old female had been symptomatic for 11 years with tendon xanthomas, severe osteopenia and multiple fractures. She presented to us with features of Frontal, temporal and cerebellar involvement. Frontal and temporal lobe dysfunction in neuropsychological tests with MRI showing frontal, temporal and cerebellar atrophy. Genetic testing with whole exome sequencing showed TREM2 (-) (ENST00000373113) Exon 2 c.377T>G (p.Val126Gly) Homozygous Autosomal recessive. Short stature, tendon xanthomas, cognitive behavioral impairment with severe osteopenia is consistent with the diagnosis of CTX. CTX is a relatively rare and treatable cause for atypical Fronto temporal dementia