HFE mutations, iron deficiency and overload in 10 500 blood donors

People with genetic haemochromatosis (GH) accumulate iron from excessive dietary absorption. In populations of northern European origin, over 90% of patients are homozygous for the C282Y mutation of the HFE gene. While about 1 in 200 people in the general population have this genotype the proportion who develop clinical haemochromatosis is not known. The influence of HFE genotype on iron status was investigated in 10 556 blood donors. The allele frequencies of the C282Y and H63D mutations were

Gold nanoparticles as catalysts for low-temperature WGS reaction

OBJECTIVES: This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations and to examine the phenotypic variation within C-terminal deletions. METHODS: Cases were selected from InterRett, an international database and from the population-based Australian Rett Syndrome Database. Cases (n=832) were included if they had a pathogenic MECP2 mutation in which the nature of the amino acid change was known. Three severity scale systems were used, and individual aspects of the phenotype were also compared. RESULTS: Lower severity was associated with C-terminal deletions (n=79) compared to all other MECP2 mutations (e.g. Pineda scale C-terminals mean 15.0 (95% CI 14.0–16.0) vs 16.2 (15.9–16.5). Cases with C-terminal deletions were more likely to have a normal head circumference (odds ratio 3.22, 95% CI 1.53 – 6.79) and weight (odds ratio 2.97, 95% CI 1.25–5.76). Onset of stereotypies tended to be later (median age 2.5 years vs 2 years, p<0.001 from survival analysis), and age of learning to walk tended to be earlier (median age 1.6 years vs 2 years, p=0.002 from survival analysis). Those with C-terminal deletions occurring later in the region had lower average severity scores than those occurring earlier in the region. CONCLUSION: In terms of overall severity C-terminal deletion cases would appear to be in the middle of the range. In terms of individual aspects of phenotype growth and ability to ambulate appear to be particular strengths. By pooling data internationally this study has achieved the case numbers to provide a phenotypic profile of C-terminal deletions in Rett syndrome

Titan Mare Explorer (TiME): first in situ exploration of an extraterrestrial sea

The lakes and seas of Titan are a sink of products of photolysis in the atmosphere, and a crucial component in Titan's active methane cycle. In situ exploration of the seas is necessary to understand their intriguing prebiotic organic chemistry

Report of the Kimberley Pipeline Environmental Advisory Committee to the Hon. Ernie Bridge, JP, MLA, Minister for Agriculture, Water Resources and the North West

The Committee was established by the Minister for Water Resources, Hon Ernie Bridge, MLA, to advise him on the potential environmental and social impacts of the proposed Kimberley Water Supply Scheme. This report contains the results of the Committee's discussions and investigations

A review of structural brain abnormalities in Pallister-Killian syndrome

Background Pallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects. Methods We describe two patients with PKS, one of whom has bilateral perisylvian polymicrogyria (PMG), the other with macrocephaly, enlarged lateral ventricles and hypogenesis of the corpus callosum. We have also summarized the current literature describing brain abnormalities in PKS. Results We reviewed available cases with intracranial scans (n = 93) and found a strong association between PKS and structural brain abnormalities (77.41%; 72/93). Notably, ventricular abnormalities (45.83%; 33/72), abnormalities of the corpus callosum (25.00%; 18/72) and cerebral atrophy (29.17%; 21/72) were the most frequently reported, while macrocephaly (12.5%; 9/72) and PMG (4.17%; 3/72) were less frequent. To further understand how 12p genes might be relevant to brain development, we identified 63 genes which are enriched in the nervous system. These genes display distinct temporal as well as region-specific expression in the brain, suggesting specific roles in neurodevelopment and disease. Finally, we utilized these data to define minimal critical regions on 12p and their constituent genes associated with atrophy, abnormalities of the corpus callosum, and macrocephaly in PKS. Conclusion Our study reinforces the association between brain abnormalities and PKS, and documents a diverse neurogenetic basis for structural brain abnormalities and impaired function in children diagnosed with this rare disorder

The Psyche Multispectral Imager Investigation: Characterizing the Geology, Topography, and Multispectral Properties of a Metal-Rich World

The Psyche Multispectral Imager (“the Imager”) is a payload system designed to directly achieve or to indirectly enable the key scientific goals and optical navigation requirements of NASA’s Psyche mission, which will conduct the first up-close orbital investigation of the metal-rich Main Belt asteroid (16) Psyche. The Imager consists of a pair of block redundant cameras and electronics that are mounted inside the thermally controlled spacecraft body, with a view out the spacecraft −X panel that will be nadir-pointed during nominal asteroid orbital mapping operations. The two identical Camera Heads are connected to a separate Digital Electronics Assembly (DEA) box that interfaces to the spacecraft avionics and that provides power, commanding, data processing, and onboard image storage. The Imager system shares significant heritage with imaging instruments flown on the Mars Climate Orbiter , the Mars Science Laboratory and Mars 2020 rovers, and Juno . Each camera consists of a 1600 × 1200 photosensitive pixel charge-coupled device (CCD) detector and its associated electronics, a 9-position filter wheel assembly, a compact catadioptric f/2.9 telescope with a fixed focal length of 148 mm, and a sunshade to minimize stray and scattered light. The Imager CCD, filters, and optics enable broadband polychromatic (∼540 ± 250 nm) imaging plus narrowband imaging in 7 colors centered from 439 to 1015 nm. An additional neutral density filter enables protection of the CCD from direct solar illumination. Each camera has a field of view of 4.6° × 3.4° and an instantaneous field of view of 50 μrad/pixel that enables imaging of the asteroid at scales ranging from ∼35 m/pix from 700 km altitude to ∼4 m/pix at 75 km altitude. The primary camera (“Imager A”) is pointed along the spacecraft −X axis, and the backup camera (“Imager B”) is toed-out by 3.7° to potentially enable greater surface area coverage per unit time if both Imagers are operated simultaneously during some mission phases. Stereoscopic mapping is performed by observing the same surface regions with either camera over a range of off-nadir pointing angles

MECP2 genomic structure and function: insights from ENCODE

MECP2, a relatively small gene located in the human X chromosome, was initially described with three exons transcribing RNA from which the protein MeCP2 was translated. It is now known to have four exons from which two isoforms are translated; however, there is also evidence of additional functional genomic structures within MECP2, including exons potentially transcribing non-coding RNAs. Accompanying the recognition of a higher level of intricacy within MECP2 has been a recent surge of knowledge about the structure and function of human genes more generally, to the extent that the definition of a gene is being revisited. It is timely now to review the published and novel functional elements within MECP2, which is proving to have a complexity far greater than was previously thought