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Background: Biallelic variants in POLR1C are associated with POLR3-related leukodystrophy (POLR3-HLD), or 4H leukodystrophy (Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism), and Treacher Collins syndrome (TCS). The clinical spectrum of POLR3-HLD caused by variants in this gene has not been described. Methods: A cross-sectional observational study involving 25 centers worldwide was conducted between 2016 and 2018. The clinical, radiologic and molecular features of 23 unreported and previously reported cases of POLR3-HLD caused by POLR1C variants were reviewed. Results: Most participants presented between birth and age 6 years with motor difficulties. Neurological deterioration was seen during childhood, suggesting a more severe phenotype than previously described. The dental, ocular and endocrine features often seen in POLR3-HLD were not invariably present. Five patients (22%) had a combination of hypomyelinating leukodystrophy and abnormal craniofacial development, including one individual with clear TCS features. Several cases did not exhibit all the typical radiologic characteristics of POLR3-HLD. A total of 29 different pathogenic variants in POLR1C were identified, including 13 new disease-causing variants. Conclusions: Based on the largest cohort of patients to date, these results suggest novel characteristics of POLR1C-related disorder, with a spectrum of clinical involvement characterized by hypomyelinating leukodystrophy with or without abnormal craniofacial development reminiscent of TCS.
We propose the concept of the “Fish Revolution” to demarcate the dramatic increase in North Atlantic fisheries after AD 1500, which led to a 15-fold increase of cod (Gadus morhua) catch volumes and likely a tripling of fish protein to the European market. We consider three key questions: (1) What were the environmental parameters of the Fish Revolution? (2) What were the globalising effects of the Fish Revolution? (3) What were the consequences of the Fish Revolution for fishing communities? While these questions would have been considered unknowable a decade or two ago, methodological developments in marine environmental history and historical ecology have moved information about both supply and demand into the realm of the discernible. Although much research remains to be done, we conclude that this was a major event in the history of resource extraction from the sea, mediated by forces of climate change and globalisation, and is likely to provide a fruitful agenda for future multidisciplinary research.
The present study explored associations between food choice motives, attitudes towards and intention to adopt personalised nutrition, to inform communication strategies based on consumer priorities and concerns.
A survey was administered online which included the Food Choice Questionnaire (FCQ) and items assessing attitudes towards and intention to adopt personalised nutrition.
Nationally representative samples were recruited in nine EU countries (n 9381).
Structural equation modelling indicated that the food choice motives ‘weight control’, ‘mood’, ‘health’ and ‘ethical concern’ had a positive association and ‘price’ had a negative association with attitude towards, and intention to adopt, personalised nutrition. ‘Health’ was positively associated and ‘familiarity’ negatively associated with attitude towards personalised nutrition. The effects of ‘weight control’, ‘ethical concern’, ‘mood’ and ‘price’ on intention to adopt personalised nutrition were partially mediated by attitude. The effects of ‘health’ and ‘familiarity’ were fully mediated by attitude. ‘Sensory appeal’ was negatively and directly associated with intention to adopt personalised nutrition.
Personalised nutrition providers may benefit from taking into consideration the importance of underlying determinants of food choice in potential users, particularly weight control, mood and price, when promoting services and in tailoring communications that are motivationally relevant.
Questions of state formation and public authority have been at the top of the development and political agenda in Nepal since 2006. The post-2006 so-called ‘political transition’ has been characterized by rising ethnic tensions, violence, strikes, and a bewildering kaleidoscope of leaders gaining political leverage, only to be marginalized again. In 2015, the Constitution was finally adopted following the earthquakes and amid violent protests from groups who felt their needs were marginalized in the final version. In this article we are concerned to probe how struggles over different technologies of government help throw into relief the various terrains within which public authority is claimed and contested, and, as a result, help to expose the limits of the state. Using the forestry sector as an ethnographic lens, we argue that there is both a profound failure by the state to provide services and stable governance as well as an ability to reproduce itself and to function in some contexts. It is therefore important to understand public authority during this period as both stable and unstable—and at times, instability is what helps to perpetuate particular imaginaries of the Nepali state.
Carbonatites are enriched in critical raw materials such as the rare-earth elements (REE), niobium, fluorspar and phosphate. A better understanding of their fluid regimes will improve our knowledge of how to target and exploit economic deposits. This study shows that multiple fluid phases penetrated the surrounding fenite aureole during carbonatite emplacement at Chilwa Island, Malawi. The first alkaline fluids formed the main fenite assemblage and later microscopic vein networks contain the minerals of potential economic interest such as pyrochlore in high-grade fenite and rare-earth minerals throughout the aureole. Seventeen samples of fenite rock from the metasomatic aureole around the Chilwa Island carbonatite complex were chosen for study. In addition to the main fenite assemblage of feldspar and aegirine ± arfvedsonite, riebeckite and richterite, the fenite contains micro-mineral assemblages including apatite, ilmenite, rutile, magnetite, zircon, rare-earth minerals and pyrochlore in vein networks. Petrography using a scanning electron microscope in energy-dispersive spectroscopy mode showed that the rare-earth minerals (monazite, bastnäsite and parisite) formed later than the fenite feldspar, aegirine and apatite and provide evidence of REE mobility into all grades of fenite. Fenite apatite has a distinct negative Eu anomaly (determined by laser ablation inductively coupled plasma mass spectrometry) that is rare in carbonatite-associated rocks and interpreted as related to pre-crystallization of plagioclase and co-crystallization with K-feldspar in the fenite. The fenite minerals have consistently higher mid REE/light REE ratios (La/Sm ≈ 1.3 monazite, ≈ 1.9 bastnäsite, ≈ 1.2 parisite) than their counterparts in the carbonatites (La/Sm ≈ 2.5 monazite, ≈ 4.2 bastnäsite, ≈ 3.4 parisite). Quartz in the low- and medium-grade fenite hosts fluid inclusions, typically a few micrometres in diameter, secondary and extremely heterogeneous. Single phase, 2- and 3-phase, single solid and multi solid-bearing examples are present, with 2-phase the most abundant. Calcite, nahcolite, burbankite and baryte were found in the inclusions. Decrepitation of inclusions occurred at ∼200°C before homogenization but melting-temperature data indicate that the inclusions contain relatively pure CO2. A minimum salinity of ∼24 wt.% NaCl equivalent was determined. Among the trace elements in whole-rock analyses, enrichment in Ba, Mo, Nb, Pb, Sr, Th and Y and depletion in Co, Hf and V are common to carbonatite and fenite but enrichment in carbonatitic type elements (Ba, Nb, Sr, Th, Yand REE) generally increases towards the inner parts of the aureole. A schematic model contains multiple fluid events, related to first and second boiling of the magma, accompanying intrusion of the carbonatites at Chilwa Island, each contributing to the mineralogy and chemistry of the fenite. The presence of distinct rare-earth mineral microassemblages in fenite at some distance from carbonatite could be developed as an exploration indicator of REE enrichment.
Coordinated profile observations between 25 MHz and 5 GHz have been carried out at the Arecibo and Pushchino observatories, and aligned according to dispersion measure (DM) values determined by cross-correlating microstructure features at adjacent frequencies. The average profiles of the nearly aligned rotator PSR 0950+08 align satisfactorily using the DM value of 2.9701 pc cm–3. For PSR 1133+16 excess delay at low frequencies is observed when alignment is made using the value of DM = 4.8413 pc cm–3 determined from microstructure cross-correlations
We have examined high quality Arecibo data of three pulsars for evidence of strange attractors in pulse-to-pulse intensity fluctuations. Significant structure was found for PSR 0823+26, and seems related to pulse drifting and nulling activity. The low dimensionality of the possible attractor suggest that a simple dynamical model can explain this component of the flux variability.
New simultaneous X-ray and radio observations of the archetypal mode-switching pulsar PSR B0943+10 have been carried out with XMM-Newton and the LOFAR, LWA and Arecibo radio telescopes in November 2014. They allowed us to better constrain the X-ray spectral and variability properties of this pulsar and to detect, for the first time, the X-ray pulsations also during the X-ray-fainter mode. The combined timing and spectral analysis indicates that unpulsed non-thermal emission, likely of magnetospheric origin, and pulsed thermal emission from a small polar cap are present during both radio modes and vary in a correlated way.
Pulsars provide probably the best probes of electron density in the plane of the Galaxy. The dispersion measure, the path integral of electron density along the line of sight from the pulsar to Earth, ∫ neds, is directly measurable from multi-frequency pulse-timing observations. The distance to a pulsar, d, can be estimated from its HI absorption and emission spectra. The mean electron density along the line of sight is then just <ne> = ∫ neds/d.
The dispersion of the Crab nebula pulsar was measured as a function of time from 10 May 1969 to 24 July 1970. Transient events occurred in the middle of June each year which coincided with the occultation of the pulsar by the solar corona. In addition there were 2 or 3 distinct events which produced enhancements of several times 1016 electrons cm-2; these were characterized by rise times of about 50 days and decay times several times longer. One event correlated with the frejump of the pulsar at the end of September 1969 and with the observation of optical activity in the quency nebula. A discussion is given of the interpretation of the variations in dispersion measure.
Heart murmurs are common in children and may represent congenital or acquired cardiac pathology. Auscultation is challenging and many primary-care physicians lack the skill to differentiate innocent from pathologic murmurs. We sought to determine whether computer-aided auscultation (CardioscanTM) identifies which children require referral to a cardiologist.
We consecutively enrolled children aged between 0 and 17 years with a murmur, innocent or pathologic, being evaluated in a tertiary-care cardiology clinic. Children being evaluated for the first time and patients with known cardiac pathology were eligible. We excluded children who had undergone cardiac surgery previously or were unable to sit still for auscultation. CardioscanTM auscultation was performed in a quiet room with the subject in the supine position. The sensitivity and specificity of a potentially pathologic murmur designation by CardioscanTM – that is, requiring referral – was determined using echocardiography as the reference standard.
We enrolled 126 subjects (44% female) with a median age of 1.7 years, with 93 (74%) having cardiac pathology. The sensitivity and specificity of a potentially pathologic murmur determination by CardioscanTM for identification of cardiac pathology were 83.9 and 30.3%, respectively, versus 75.0 and 71.4%, respectively, when limited to subjects with a heart rate of 50–120 beats per minute. The combination of a CardioscanTM potentially pathologic murmur designation or an abnormal electrocardiogram improved sensitivity to 93.5%, with no haemodynamically significant lesions missed.
Sensitivity of CardioscanTM when interpreted in conjunction with an abnormal electrocardiogram was high, although specificity was poor. Re-evaluation of computer-aided auscultation will remain necessary as advances in this technology become available.
In investigating the phenomena of the free expansion of gases in the previous part of this paper, they had been considered as expanding, without receiving or giving out energy in any form; so that the equation taken to represent their condition was
This condition was realized in the early experiments of Mr Joule, where, by the sudden opening of a stopcock, air previously confined in one vessel was allowed to fill another also; but it is not exactly realized in the experiments now in progress by Messrs Joule and Thomson, for which the correct equation is
This paper is written in continuation of a series of papers, of which six sections have already been published in the Transactions of the Royal Society of Edinburgh.
It commences with some articles supplementary to the first six sections, and intended to apply to the theoretical principles contained in them to the extensive and precise experimental data which have been obtained in the course of the last two years.
The author refers to the general equation of the mechanical action of heat which Professor Clausius and he arrived at independently by different methods in 1849, and points out that the form of that equation, which was laid before the Society by him in a paper read on the 4th of February 1850, comprehends, as a particular case, the law which connects the volume of a given weight of steam with its temperature, pressure, and latent heat. He describes the use of that law, with proper numerical data, to compute, in the absence of direct experiment, tables of the density and volume of saturated steam, more accurate than those founded on the assumption of the perfectly gaseous condition, as exemplified in tables which he published in 1855 and subsequently.
This section contains four sub-sections, the first three of which constitute a review of the fundamental principles of the Mechanical Theory of Heat, which are investigated by a method different from any that has been hitherto employed; while the fourth contains the application of those principles to the determination of the inferences to be drawn from the recent experiments of Mr Joule and Prof. William Thomson on the thermic phenomena exhibited by currents of air rushing through small openings.
This paper contains investigations founded on the supposition, that that part of the elasticity of bodies which depends upon heat, arises from the centrifugal force of the revolutions of the particles of elastic atmospheres surrounding nuclei or atomic centres. The author has laid before this Society and the British Association several papers founded on this supposition, which he has elsewhere termed the hypothesis of molecular vortices.
The author, in the first place, states the equations, which, when used in conjunction with the Tables in the Appendix to the original paper referred to, serve to compute the action of Cornish pumping engines. They are similar in form to those of M. de Pambour, but differ in the expressions for the pressure and volume of steam, and for its expansive action, which the author in the original paper deduced from theory.
The experiments of M. Regnault having been made by introducing water at a high temperature from a boiler into a calorimeter, containing water at a low temperature, and power exercised by the steam in the boiler in expelling the water was converted into heat by fluid friction, thus producing a rise of temperature in the calorimeter, for which allowance ought to be made in calculating the specific heat of liquid water from each experiment. Mr Joule's determination of the dynamical value of the specific heat of liquid water at low temperatures affords the means of calculating the correction required in each case.
If the plane of polarisation is normal to the direction of vibration, according to the conjecture of Fresnel, which seems to be supported by the phenomena of reflexion, the velocity of propagation of light in a crystalline medium is a function of the direction of vibration, If, on the contrary, the plane of polarisation is parallel to the direction of vibration, the velocity of propagation is a function of the position of the plane which includes the direction of vibration, and the direction of transmission.