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 provide the first in situ measurements of antenna element beam shapes of the Murchison Widefield Array. Most current processing pipelines use an assumed beam shape, which can cause absolute and relative flux density errors and polarisation ‘leakage’. Understanding the primary beam is then of paramount importance, especially for sensitive experiments such as a measurement of the 21-cm line from the epoch of reionisation, where the calibration requirements are so extreme that tile to tile beam variations may affect our ability to make a detection. Measuring the primary beam shape from visibilities is challenging, as multiple instrumental, atmospheric, and astrophysical factors contribute to uncertainties in the data. Building on the methods of Neben et al. [Radio Sci., 50, 614], we tap directly into the receiving elements of the telescope before any digitisation or correlation of the signal. Using ORBCOMM satellite passes we are able to produce all-sky maps for four separate tiles in the XX polarisation. We find good agreement with the beam model of Sokolowski et al. [2017, PASA, 34, e062], and clearly observe the effects of a missing dipole from a tile in one of our beam maps. We end by motivating and outlining additional on-site experiments.

We describe the motivation and design details of the ‘Phase II’ upgrade of the Murchison Widefield Array radio telescope. The expansion doubles to 256 the number of antenna tiles deployed in the array. The new antenna tiles enhance the capabilities of the Murchison Widefield Array in several key science areas. Seventy-two of the new tiles are deployed in a regular configuration near the existing array core. These new tiles enhance the surface brightness sensitivity of the array and will improve the ability of the Murchison Widefield Array to estimate the slope of the Epoch of Reionisation power spectrum by a factor of ∼3.5. The remaining 56 tiles are deployed on long baselines, doubling the maximum baseline of the array and improving the array u, v coverage. The improved imaging capabilities will provide an order of magnitude improvement in the noise floor of Murchison Widefield Array continuum images. The upgrade retains all of the features that have underpinned the Murchison Widefield Array’s success (large field of view, snapshot image quality, and pointing agility) and boosts the scientific potential with enhanced imaging capabilities and by enabling new calibration strategies.

The current emphasis of schistosomiasis control is placed on preventive chemotherapy using praziquantel. However, reinfection may occur rapidly in the absence of complementary interventions. Recent studies from Senegal suggest that predatory prawns might feed on intermediate host snails and thus impact on schistosomiasis transmission. We designed a study with four repeated cross-sectional surveys pertaining to prawns and snails, coupled with a single cross-sectional parasitological survey among humans. We assessed for potential associations between the presence/density of prawns and snails and correlation with Schistosoma infection in a composite sample of school-aged children and adults. The study was carried out between October 2015 and December 2016 in 24 villages located near the Agnéby and Mé coastal river systems in south-eastern Côte d'Ivoire. At each site, snails and prawns were collected, and in each village, 150 individuals were subjected to stool and urine examination for the diagnosis of Schistosoma mansoni and S. haematobium. We found peaks of relative abundance of intermediate host snails in the villages of the Agnéby River system, while predatory prawns were predominantly recorded in the Mé River system. A negative association was observed between intermediate host snail densities and riverine prawns; however, no pattern was found between this trend in the predator–prey relationship and the prevalence of human schistosomiasis.

In Cameroon, there is a national programme engaged in the control of schistosomiasis and soil-transmitted helminthiasis. In certain locations, the programme is transitioning from morbidity control towards local interruption of parasite transmission. The volcanic crater lake villages of Barombi Mbo and Barombi Kotto are well-known transmission foci and are excellent context-specific locations to assess appropriate disease control interventions. Most recently they have served as exemplars of expanded access to deworming medications and increased environmental surveillance. In this paper, we review infection dynamics through time, beginning with data from 1953, and comment on the short- and long-term success of disease control. We show how intensification of local control is needed to push towards elimination and that further environmental surveillance, with targeted snail control, is needed to consolidate gains in preventive chemotherapy as well as empower local communities to take ownership of interventions.

The study of parasites typically crosses into other research disciplines and spans across diverse scales, from molecular- to populational-levels, notwithstanding promoting an understanding of parasites set within evolutionary time. Today, the 2030 Sustainable Development Goals (SDGs) help frame much of contemporary parasitological research, since parasites can be found in all ecosystems, blighting human, animal and plant health. In recognition of the multi-disciplinary nature of parasitological research, the 2017 Autumn Symposium of the British Society for Parasitology was held in London to provide a forum for novel exchange across medical, veterinary and wildlife fields of study. Whilst the meeting was devoted to the topic of parasitism, it sought to foster mutualism, the antithesis perhaps of parasitism, by forging new academic connections and social networks to exchange novel ideas. The meeting also celebrated the longstanding career of Professor David Rollinson, FLS in the award of the International Federation for Tropical Medicine Medal for his efforts spanning 40 years of parasitological research. Indeed, David has done so much to explore and promote the fascinating biology of parasitism, as exemplified by the 15 manuscripts contained within this Special Issue.

With the push towards control and elimination of soil-transmitted helminthiasis and schistosomiasis in low- and middle-income countries, there is a need to develop alternative diagnostic assays that complement the current in-country resources, preferably at a lower cost. Here, we describe a novel high-resolution melt (HRM) curve assay with six PCR primer pairs, designed to sub-regions of the nuclear ribosomal locus. Used within a single reaction and dye detection channel, they are able to discriminate Ancylostoma duodenale, Necator americanus, Strongyloides stercoralis, Ascaris lumbricoides, Trichuris trichiuria and Schistosoma spp. by HRM curve analysis. Here we describe the primers and the results of a pilot assessment whereby the HRM assay was tested against a selection of archived fecal samples from Ghanaian children as characterized by Kato–Katz and real-time PCR analysis with species-specific TaqMan hydrolysis probes. The resulting sensitivity and specificity of the HRM was 80 and 98.6% respectively. We judge the assay to be appropriate in modestly equipped and resourced laboratories. This method provides a potentially cheaper alternative to the TaqMan method for laboratories in lower resource settings. However, the assay requires a more extensive assessment as the samples used were not representative of all target organisms.

Helminth infections have large negative impacts on production efficiency in ruminant farming systems worldwide, and their effective management is essential if livestock production is to increase to meet future human needs for dietary protein. The control of helminths relies heavily on routine use of chemotherapeutics, but this approach is unsustainable as resistance to anthelmintic drugs is widespread and increasing. At the same time, infection patterns are being altered by changes in climate, land-use and farming practices. Future farms will need to adopt more efficient, robust and sustainable control methods, integrating ongoing scientific advances. Here, we present a vision of helminth control in farmed ruminants by 2030, bringing to bear progress in: (1) diagnostic tools, (2) innovative control approaches based on vaccines and selective breeding, (3) anthelmintics, by sustainable use of existing products and potentially new compounds, and (4) rational integration of future control practices. In this review, we identify the technical advances that we believe will place new tools in the hands of animal health decision makers in 2030, to enhance their options for control and allow them to achieve a more integrated and sustainable approach to helminth control in support of animal welfare and production.

On August 25, 2017, Hurricane Harvey made landfall near Corpus Christi, Texas. The ensuing unprecedented flooding throughout the Texas coastal region affected millions of individuals.1 The statewide response in Texas included the sheltering of thousands of individuals at considerable distances from their homes. The Dallas area established large-scale general population sheltering as the number of evacuees to the area began to amass. Historically, the Dallas area is one familiar with “mega-sheltering,” beginning with the response to Hurricane Katrina in 2005.2 Through continued efforts and development, the Dallas area had been readying a plan for the largest general population shelter in Texas. (Disaster Med Public Health Preparedness. 2019;13:33–37)

Escherichia coli O157 are zoonotic bacteria for which cattle are an important reservoir. Prevalence estimates for E. coli O157 in British cattle for human consumption are over 10 years old. A new baseline is needed to inform current human health risk. The British E. coli O157 in Cattle Study (BECS) ran between September 2014 and November 2015 on 270 farms across Scotland and England & Wales. This is the first study to be conducted contemporaneously across Great Britain, thus enabling comparison between Scotland and England & Wales. Herd-level prevalence estimates for E. coli O157 did not differ significantly for Scotland (0·236, 95% CI 0·166–0·325) and England & Wales (0·213, 95% CI 0·156–0·283) (P = 0·65). The majority of isolates were verocytotoxin positive. A higher proportion of samples from Scotland were in the super-shedder category, though there was no difference between the surveys in the likelihood of a positive farm having at least one super-shedder sample. E. coli O157 continues to be common in British beef cattle, reaffirming public health policy that contact with cattle and their environments is a potential infection source.

We present new software to cross-match low-frequency radio catalogues: the Positional Update and Matching Algorithm. The Positional Update and Matching Algorithm combines a positional Bayesian probabilistic approach with spectral matching criteria, allowing for confusing sources in the matching process. We go on to create a radio sky model using Positional Update and Matching Algorithm based on the Murchison Widefield Array Commissioning Survey, and are able to automatically cross-match ~ 98.5% of sources. Using the characteristics of this sky model, we create simple simulated mock catalogues on which to test the Positional Update and Matching Algorithm, and find that Positional Update and Matching Algorithm can reliably find the correct spectral indices of sources, along with being able to recover ionospheric offsets. Finally, we use this sky model to calibrate and remove foreground sources from simulated interferometric data, generated using OSKAR (the Oxford University visibility generator). We demonstrate that there is a substantial improvement in foreground source removal when using higher frequency and higher resolution source positions, even when correcting positions by an average of 0.3 arcmin given a synthesised beam-width of ~ 2.3 arcmin.

The anticipated release of EnlistTM cotton, corn, and soybean cultivars likely will increase the use of 2,4-D, raising concerns over potential injury to susceptible cotton. An experiment was conducted at 12 locations over 2013 and 2014 to determine the impact of 2,4-D at rates simulating drift (2 g ae ha−1) and tank contamination (40 g ae ha−1) on cotton during six different growth stages. Growth stages at application included four leaf (4-lf), nine leaf (9-lf), first bloom (FB), FB + 2 wk, FB + 4 wk, and FB + 6 wk. Locations were grouped according to percent yield loss compared to the nontreated check (NTC), with group I having the least yield loss and group III having the most. Epinasty from 2,4-D was more pronounced with applications during vegetative growth stages. Importantly, yield loss did not correlate with visual symptomology, but more closely followed effects on boll number. The contamination rate at 9-lf, FB, or FB + 2 wk had the greatest effect across locations, reducing the number of bolls per plant when compared to the NTC, with no effect when applied at FB + 4 wk or later. A reduction of boll number was not detectable with the drift rate except in group III when applied at the FB stage. Yield was influenced by 2,4-D rate and stage of cotton growth. Over all locations, loss in yield of greater than 20% occurred at 5 of 12 locations when the drift rate was applied between 4-lf and FB + 2 wk (highest impact at FB). For the contamination rate, yield loss was observed at all 12 locations; averaged over these locations yield loss ranged from 7 to 66% across all growth stages. Results suggest the greatest yield impact from 2,4-D occurs between 9-lf and FB + 2 wk, and the level of impact is influenced by 2,4-D rate, crop growth stage, and environmental conditions.

The NASA Ames Research Center's Vulcan photometer is being used in a search for close–in giant extrasolar planets. With our current data reduction system we achieve 0.2–0.8% hour–to–hour relative photometric precision on ∽ 6000 stars brighter than 13th magnitude. Three Galactic-plane fields have so far yielded hundreds of variable stars, including ∽ 50 eclipsing or interacting binaries per field. Several candidate detections have been followed up with radial velocity observations. High-resolution spectroscopy revealed many of the strongest candidates to be grazing eclipsing binaries.

We have discovered a number of very small isolated H II regions 20-30 kpc from their nearest galaxy. The H II regions appear as tiny emission line dots (ELdots) in narrow band images obtained by the NOAO Survey for Ionization in Neutral Gas Galaxies (SINGG). We have spectroscopic confirmation of 5 isolated H II regions in 3 systems. The Hα luminosities of the H II regions are equivalent to the ionizing flux of only 1 large or a few small OB stars each. These stars appear to have formed in situ and represent atypical star formation in the low density environment of galaxy outskirts. In situ star formation in the intergalactic medium offers an alternative to galactic wind models to explain metal enrichment. In interacting systems (2 out of 3), isolated H II regions could be a starting point for tidal dwarf galaxies.

We are undertaking an extensive survey of a sample of radio-selected flat-spectrum sources, which are predominantly quasars. The sample will be used for a range of gravitational lensing studies as well as studies of the generic properties of radio quasars. As yet we have not found any instances of multiply-imaged quasars, however we have found evidence for dust which we believe is reddening the observed spectra of many of the quasars. Samples which are selected to be complete in the radio are the best way to account for the effects of dust.

There is still debate as to whether wide separation (Δθ ≳ 3″) double quasars are physical binaries or gravitationally lensed sources. We proceed under the assumption that most of these objects are the result of lensing, and use maximum likelihood techniques (Kochanek 1993) to infer information about the mass distribution of deflectors that would be required to produce these wide image separations. Under the above assumptions, the most consistent explanation is the existence of a significant population of dark objects with the mass of groups of galaxies.

We have compiled a catalogue of H ii regions detected with the Murchison Widefield Array between 72 and 231 MHz. The multiple frequency bands provided by the Murchison Widefield Array allow us identify the characteristic spectrum generated by the thermal Bremsstrahlung process in H ii regions. We detect 306 H ii regions between 260° < l < 340° and report on the positions, sizes, peak, integrated flux density, and spectral indices of these H ii regions. By identifying the point at which H ii regions transition from the optically thin to thick regime, we derive the physical properties including the electron density, ionised gas mass, and ionising photon flux, towards 61 H ii regions. This catalogue of H ii regions represents the most extensive and uniform low frequency survey of H ii regions in the Galaxy to date.

We have recently discovered evidence for a population of radio-loud quasars that is reddened by dust. The dust is either along the line of sight to the quasars or is associated with the quasars. In the latter case the dust may be in molecular clouds in the quasar’s host galaxy, or in a molecular torus around the nucleus. We are planning to use 3 mm observations to search for molecular absorption lines (CO and HCO+) associated with dust at the redshift of these quasars. If any absorption systems are detected we will be able to deduce detailed information about the physical state of the molecular gas, hopefully showing which of the proposed locations of the dust is most likely.

Cosmology is one of the most dynamically evolving areas of astrophysics today. Twenty years ago the estimates of the amplitude of the primordial fluctuations were about 10-3, almost a factor of 100 off of today’s measurements. Ten years ago we could only hope for high precision measurements of large scale structure, there were less than 5000 redshifts measured, and only a handful of normal galaxies with z > 1 were known. Computer models of structure formation had just begun to consider non-power-law spectra based on physical models like hot/cold dark matter. As a consequence there was considerable freedom in adjusting parameters in the various galaxy formation scenarios. In contrast, many of today’s debates are about factors of 2 and soon we will be arguing about 10% differences. The Harrison-Zeldovich shape of the primordial fluctuation spectrum, first derived from philosophical arguments can now be quantified from detections of fluctuations by COBE. The number of available redshifts is beyond 50,000, and soon we will have redshift surveys surpassing 1 million galaxies. N-body simulations are becoming more sophisticated, of higher resolution, and incorporating complex gas dynamics.