52 research outputs found
A Late Holocene community burial area: Evidence of diverse mortuary practices in the Western Cape, South Africa.
Over several decades, human skeletal remains from at least twelve individuals (males, females, children and infants) were recovered from a small area (ca. 10 x 10 m) on the eastern shore of Table Bay, Cape Town, near the mouth of the Diep River where it empties into the sea. Two groups, each comprising four individuals, appear to have been buried in single graves. Unusually for this region, several skeletons were interred with large numbers of ostrich eggshell (OES) beads. In some cases, careful excavation enabled recovery of segments of beadwork. One collective burial held items including an ostrich egg-shell flask, a tortoise carapace bowl, a fragmentary bone point or linkshaft and various lithic artefacts. This group appears to have died together and been buried expediently. A mid-adult woman from this group sustained perimortem blunt-force trauma to her skull, very likely the cause of her death. This case adds to the developing picture of interpersonal violence associated with a period of subsistence intensification among late Holocene foragers. Radiocarbon dates obtained for nine skeletons may overlap but given the uncertainties associated with marine carbon input, we cannot constrain the date range more tightly than 1900-1340 calBP (at 2 sigma). The locale appears to have been used by a community as a burial ground, perhaps regularly for several generations, or on a single catastrophic occasion, or some combination thereof. The evidence documents regional and temporal variation in burial practices among late Holocene foragers of the south-western Cape
Estimation of changes in air pollution emissions, concentrations and exposure during the COVID-19 outbreak in the UK
Indoor Air Quality
This is a report from the Air Quality Expert Group to the Department for Environment, Food and Rural Affairs; Scottish Government; Welsh Government; and Department of Agriculture, Environment and Rural Affairs in Northern Ireland, on indoor air quality in the UK. The information contained within this report represents a review of the understanding and evidence available at the time of writing
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.
BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare disease with an emerging genetic basis. Heterozygous mutations in the gene encoding the bone morphogenetic protein receptor type 2 (BMPR2) are the commonest genetic cause of PAH, whereas biallelic mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 gene (EIF2AK4) are described in pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. Here, we determine the frequency of these mutations and define the genotype-phenotype characteristics in a large cohort of patients diagnosed clinically with PAH. METHODS: Whole-genome sequencing was performed on DNA from patients with idiopathic and heritable PAH and with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis recruited to the National Institute of Health Research BioResource-Rare Diseases study. Heterozygous variants in BMPR2 and biallelic EIF2AK4 variants with a minor allele frequency of <1:10 000 in control data sets and predicted to be deleterious (by combined annotation-dependent depletion, PolyPhen-2, and sorting intolerant from tolerant predictions) were identified as potentially causal. Phenotype data from the time of diagnosis were also captured. RESULTS: Eight hundred sixty-four patients with idiopathic or heritable PAH and 16 with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis were recruited. Mutations in BMPR2 were identified in 130 patients (14.8%). Biallelic mutations in EIF2AK4 were identified in 5 patients with a clinical diagnosis of pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. Furthermore, 9 patients with a clinical diagnosis of PAH carried biallelic EIF2AK4 mutations. These patients had a reduced transfer coefficient for carbon monoxide (Kco; 33% [interquartile range, 30%-35%] predicted) and younger age at diagnosis (29 years; interquartile range, 23-38 years) and more interlobular septal thickening and mediastinal lymphadenopathy on computed tomography of the chest compared with patients with PAH without EIF2AK4 mutations. However, radiological assessment alone could not accurately identify biallelic EIF2AK4 mutation carriers. Patients with PAH with biallelic EIF2AK4 mutations had a shorter survival. CONCLUSIONS: Biallelic EIF2AK4 mutations are found in patients classified clinically as having idiopathic and heritable PAH. These patients cannot be identified reliably by computed tomography, but a low Kco and a young age at diagnosis suggests the underlying molecular diagnosis. Genetic testing can identify these misclassified patients, allowing appropriate management and early referral for lung transplantation
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