Dates of birth and seasonal changes in well-being among 4904 subjects completing the seasonal pattern assessment questionnaire

Background: Abnormal distributions of birthdates, suggesting intrauterine aetiological factors, have been found in several psychiatric disorders, including one study of out-patients with Seasonal Affective Disorder (S.A.D.). We investigated birthdate distribution in relation to seasonal changes in well-being among a cohort who had completed the Seasonal Pattern Assessment Questionnaire (SPAQ). Method: A sample of 4904 subjects, aged 16 to 64, completed the SPAQ. 476 were cases of S.A.D. on the SPAQ and 580 were cases of sub-syndromal S.A.D. (S-S.A.D.). 92 were interview confirmed cases of S.A.D. Months and dates of birth were compared between S.A.D. cases and all others, between S.A.D. and S-S.A.D. cases combined and all others, and between interview confirmed cases and all others. Seasonality, as measured through seasonal fluctuations in well-being on the Global Seasonality Scores (GSS) of the SPAQ, was compared for all subjects by month and season of birth. Results: There was no evidence of an atypical pattern of birthdates for subjects fulfilling criteria for S.A.D., for the combined S.A.D. / S-S.A.D. group or for interview confirmed cases. There was also no relationship between seasonality on the GSS and month or season of birth. Limitations: Diagnoses of S.A.D. made by SPAQ criteria are likely to be overinclusive. Conclusion: Our findings differ from studies of patients with more severe mood disorders, including psychiatric out-patients with S.A.D. The lack of association between seasonality and birthdates in our study adds credence to the view that the aetiology of S.A.D. relates to separable factors predisposing to affective disorders and to seasonality

NEGIS - A unique feature in Greenland?

Reliable knowledge of ice discharge dynamics for the Greenland Ice Sheet via its ice streams is essential if we are to understand its stability under future climate scenarios. Little however is known about the paleo ice-sheet configuration in areas still covered by ice. Here we use radio-echo sounding data to decipher the regional deformation history of the north-eastern Greenland Ice Sheet from its internal stratigraphy. We map folds deep below the surface that we attribute to the activity of a now-extinct ice stream, which shows strong similarities to the Northeast Greenland Ice Stream. We propose that locally this ancient ice flow regime reached much further inland than today’s and was ceased in the Holocene. The new insight that major ice streams may abruptly disappear will affect future approaches to understanding and modelling the response of Earth’s ice sheets to global warming

Holocene ice-stream shutdown and drainage basin reconfiguration in northeast Greenland

Reliable knowledge of ice discharge dynamics for the Greenland ice sheet via its ice streams is essential if we are to understand its stability under future climate scenarios. Currently active ice streams in Greenland have been well mapped using remote-sensing data while past ice-stream paths in what are now deglaciated regions can be reconstructed from the landforms they left behind. However, little is known about possible former and now defunct ice streams in areas still covered by ice. Here we use radio-echo sounding data to decipher the regional ice-flow history of the northeastern Greenland ice sheet on the basis of its internal stratigraphy. By creating a three-dimensional reconstruction of time-equivalent horizons, we map folds deep below the surface that we then attribute to the deformation caused by now-extinct ice streams. We propose that locally this ancient ice-flow regime was much more focused and reached much farther inland than today’s and was deactivated when the main drainage system was reconfigured and relocated southwards. The insight that major ice streams in Greenland might start, shift or abruptly disappear will affect future approaches to understanding and modelling the response of Earth’s ice sheets to global warming

Widespread Antarctic glaciation during the Late Eocene

Marine sedimentary rocks drilled on the southeastern margin of the South Orkney microcontinent in Antarctica (Ocean Drilling Program Leg 113 Site 696) were deposited between ∼36.5Ma to 33.6Ma, across the Eocene–Oligocene climate transition. The recovered rocks contain abundant grains exhibiting mechanical features diagnostic of iceberg-rafted debris. Sand provenance based on a multi-proxy approach that included petrographic analysis of over 275,000 grains, detrital zircon geochronology and apatite thermochronometry rule out local sources (Antarctic Peninsula or the South Orkney Islands) for the material. Instead the ice-transported grains show a clear provenance from the southern Weddell Sea region, extending from the Ellsworth–Whitmore Mountains of West Antarctica to the coastal region of Dronning Maud Land in East Antarctica. This study provides the first evidence for a continuity of widespread glacier calving along the coastline of the southern Weddell Sea embayment at least 2.5million yrs before the prominent oxygen isotope event at 34–33.5Ma that is considered to mark the onset of widespread glaciation of the Antarctic continent

The GALNT9, BNC1 and CCDC8 genes are frequently epigenetically dysregulated in breast tumours that metastasise to the brain.

Tumour metastasis to the brain is a common and deadly development in certain cancers; 18-30 % of breast tumours metastasise to the brain. The contribution that gene silencing through epigenetic mechanisms plays in these metastatic tumours is not well understood

Prediction of acute myeloid leukaemia risk in healthy individuals

The incidence of acute myeloid leukaemia (AML) increases with age and mortality exceeds 90% when diagnosed after age 65. Most cases arise without any detectable early symptoms and patients usually present with the acute complications of bone marrow failure(1). The onset of such de novo AML cases is typically preceded by the accumulation of somatic mutations in preleukaemic haematopoietic stem and progenitor cells (HSPCs) that undergo clonal expansion(2,3). However, recurrent AML mutations also accumulate in HSPCs during ageing of healthy individuals who do not develop AML, a phenomenon referred to as age-related clonal haematopoiesis (ARCH)(4-8). Here we use deep sequencing to analyse genes that are recurrently mutated in AML to distinguish between individuals who have a high risk of developing AML and those with benign ARCH. We analysed peripheral blood cells from 95 individuals that were obtained on average 6.3 years before AML diagnosis (pre-AML group), together with 414 unselected age- and gender-matched individuals (control group). Pre-AML cases were distinct from controls and had more mutations per sample, higher variant allele frequencies, indicating greater clonal expansion, and showed enrichment of mutations in specific genes. Genetic parameters were used to derive a model that accurately predicted AML-free survival; this model was validated in an independent cohort of 29 pre-AML cases and 262 controls. Because AML is rare, we also developed an AML predictive model using a large electronic health record database that identified individuals at greater risk. Collectively our findings provide proof-of-concept that it is possible to discriminate ARCH from pre-AML many years before malignant transformation. This could in future enable earlier detection and monitoring, and may help to inform intervention