3,751 research outputs found

    Transhumanism in India: Past, Present and the Future

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    The Indian subcontinent has a particularly rich cultural heritage, which has a certain level of natural compatibility with the transhumanist ... Chapter 56: Transhumanism in India: Past, Present and the Future 56.1 Transhumanism in Ancient India

    Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa

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    Aim: To describe the clinical and molecular features of a novel, autosomal dominant RDH12-retinopathy. Methods: Retrospective cross-sectional study. Twelve individuals from a four-generation British pedigree underwent ophthalmic examination, genotyping using next generation sequencing, including whole genome sequencing and multimodal retinal imaging including fundus photography, optical coherence tomography (OCT), autofluorescence imaging and adaptive optics (AO) scanning light ophthalmoscopy were performed. Visual electrophysiology was performed in a subset. Results: Eight family members were confirmed as affected by genotyping heterozygous for RDH12 c.763delG. Visual acuity ranged from −0.1 to 0.2 logMAR. Affected individuals had constricted visual fields. A parafoveal and peripapillary ring of hyper-autofluorescence was seen initially, and with progression the area of perifoveal hypo-autofluorescence increased to involve the parafoveal area. Mild retinal thinning was identified on OCT imaging with reduction in both foveal total retinal and outer nuclear layer thickness. Cone densities along the temporal meridian were reduced in affected individuals compared with normative values at all temporal eccentricities studied. One individual with incomplete penetrance, was identified as clinically affected primarily on the basis of AO imaging. Full-field electroretinography demonstrated a rod-cone pattern of dysfunction and large-field pattern electroretinography identified peripheral macular dysfunction. Conclusions: This novel heterozygous variant RDH12 c.763delG is associated with a rod-cone dystrophy with variable expression. Determination of the degree of penetrance may depend on the modality employed to phenotypically characterise an individual. This rare and specific heterozygous (dominant) variant is predicted to result in a gain of function, that causes disease in a gene typically associated with biallelic (recessive) variants

    Variability of lightning, convective rain and solar activity study over South/Southeast Asia during ENSO episode for the period of 1998-2010

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    Abstract Analysis of monthly mean data of lightning and convective rain for the region 8° N - 35° N, 60° E - 120° E and for the period 1998-2010 show that lightning and convective rain are not significantly influenced by solar parameters such as sunspot number, total solar irradiance (TSI) and solar radio flux whereas CAPE anomaly and temperature anomaly have significant impact on the total lightning flash rate and convective rain during ENSO periods. Further no significant relation between cosmic ray flux and total lightning flash rate during La Niña period is obtained. On the other hand, for the El Niño period and for the total period, we get statistically some significant negative correlation between cosmic ray flux and total lightning flash rate. However, it is not possible to make any comment on the general relation between cosmic ray flux and total lightning flash rate due to contaminating global effects, regional effects and cloud microphysics. In the monthly variation of the parameters, temperature anomaly can be used as a proxy for the total lightning flash rate for the region under consideration. Most of the variation in ozone during the ENSO period is due to lightning. In the region considered here, role of aerosols in producing lightning and rainfall is quite comparable during La Niña period. On the other hand, aerosols contribute more towards production of lightning than producing rain during El Niño due to changes in cloud microphysics and cloud electrification

    Genetic deletion of fibroblast growth factor 14 recapitulates phenotypic alterations underlying cognitive impairment associated with schizophrenia

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    Cognitive processing is highly dependent on the functional integrity of gamma-amino-butyric acid (GABA) interneurons in the brain. These cells regulate excitability and synaptic plasticity of principal neurons balancing the excitatory/inhibitory tone of cortical networks. Reduced function of parvalbumin (PV) interneurons and disruption of GABAergic synapses in the cortical circuitry result in desynchronized network activity associated with cognitive impairment across many psychiatric disorders, including schizophrenia. However, the mechanisms underlying these complex phenotypes are still poorly understood. Here we show that in animal models, genetic deletion of fibroblast growth factor 14 (Fgf14), a regulator of neuronal excitability and synaptic transmission, leads to loss of PV interneurons in the CA1 hippocampal region, a critical area for cognitive function. Strikingly, this cellular phenotype associates with decreased expression of glutamic acid decarboxylase 67 (GAD67) and vesicular GABA transporter (VGAT) and also coincides with disrupted CA1 inhibitory circuitry, reduced in vivo gamma frequency oscillations and impaired working memory. Bioinformatics analysis of schizophrenia transcriptomics revealed functional co-clustering of FGF14 and genes enriched within the GABAergic pathway along with correlatively decreased expression of FGF14, PVALB, GAD67 and VGAT in the disease context. These results indicate that Fgf14(-/-) mice recapitulate salient molecular, cellular, functional and behavioral features associated with human cognitive impairment, and FGF14 loss of function might be associated with the biology of complex brain disorders such as schizophrenia

    Estimating sleep parameters using an accelerometer without sleep diary

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    This is the final version. Available from the publisher via the DOI in this record.Wrist worn raw-data accelerometers are used increasingly in large-scale population research. We examined whether sleep parameters can be estimated from these data in the absence of sleep diaries. Our heuristic algorithm uses the variance in estimated z-axis angle and makes basic assumptions about sleep interruptions. Detected sleep period time window (SPT-window) was compared against sleep diary in 3752 participants (range = 60–82 years) and polysomnography in sleep clinic patients (N = 28) and in healthy good sleepers (N = 22). The SPT-window derived from the algorithm was 10.9 and 2.9 minutes longer compared with sleep diary in men and women, respectively. Mean C-statistic to detect the SPT-window compared to polysomnography was 0.86 and 0.83 in clinic-based and healthy sleepers, respectively. We demonstrated the accuracy of our algorithm to detect the SPT-window. The value of this algorithm lies in studies such as UK Biobank where a sleep diary was not used.Medical Research Council (MRC)National Institute of Health (NIH

    Brucellosis remains a neglected disease inthe developing world: a call forinterdisciplinary action

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    Brucellosis places significant burdens on the human healthcare system and limits the economic growth of individuals, communities, and nations where such development is especially important to diminish the prevalence of poverty. The implementation of public policy focused on mitigating the socioeconomic effects of brucellosis in human and animal populations is desperately needed. When developing a plan to mitigate the associated consequences, it is vital to consider both the abstract and quantifiable effects. This requires an interdisciplinary and collaborative, or One Health, approach that consists of public education, the development of an infrastructure for disease surveillance and reporting in both veterinary and medical fields, and campaigns for control in livestock and wildlife species
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