It is frequent for news items to lead to a short lived temporary increase in interest in a particular health related service, however it is rare for this to have a long lasting effect. In 2013, in ...the UK in particular, there has been unprecedented publicity in hereditary breast cancer, with Angelina Jolie's decision to have genetic testing for the BRCA1 gene and subsequently undergo risk reducing mastectomy (RRM), and a pre-release of the NICE guidelines on familial breast cancer in January and their final release on 26th June. The release of NICE guidelines created a lot of publicity over the potential for use of chemoprevention using tamoxifen or raloxifene. However, the longest lasting news story was the release of details of film actress Angelina Jolie's genetic test and surgery.
To assess the potential effects of the 'Angelina Jolie' effect, referral data specific to breast cancer family history was obtained from around the UK for the years 2012 and 2013. A consortium of over 30 breast cancer family history clinics that have contributed to two research studies on early breast surveillance were asked to participate as well as 10 genetics centres. Monthly referrals to each service were collated and increases from 2012 to 2013 assessed.
Data from 12 family history clinics and 9 regional genetics services showed a rise in referrals from May 2013 onwards. Referrals were nearly 2.5 fold in June and July 2013 from 1,981 (2012) to 4,847 (2013) and remained at around two-fold to October 2013. Demand for BRCA1/2 testing almost doubled and there were also many more enquiries for risk reducing mastectomy. Internal review shows that there was no increase in inappropriate referrals.
The Angelina Jolie effect has been long lasting and global, and appears to have increased referrals to centres appropriately.
Dostoevsky suffered from epilepsy all his life. It is known that the characters with epilepsy and the epileptic seizure held an important key in his story. While interpreting his illness and works ...from a neuroscience perspective, this short essay goes further and examines the structure of polyphony advocated by Bakhtin about Dostoevsky's works. Neuroscientific significance could be found in the polyphonic structure of his work consisting of the multi-layered structure of dialogue and narrative.
•We show that, 50 years after first formulated, Tinbergen's four questions remain valid.•We update Tinbergen's four questions in the light of recent findings.•We stress how the questions may ...sometimes need to be considered together.•We point to questions additional to those of Tinbergen such as ‘How is the behaviour inherited?’, ‘What is the character?’, and ‘Of what is an animal seemingly aware?’.
This year is the 50th anniversary of Tinbergen's (1963) article ‘On aims and methods of ethology’, where he first outlined the four ‘major problems of biology’. The classification of the four problems, or questions, is one of Tinbergen's most enduring legacies, and it remains as valuable today as 50 years ago in highlighting the value of a comprehensive, multifaceted understanding of a characteristic, with answers to each question providing complementary insights. Nonetheless, much has changed in the intervening years, and new data call for a more nuanced application of Tinbergen's framework. The anniversary would seem a suitable opportunity to reflect on the four questions and evaluate the scientific work that they encourage.
Following the 1898 Battle of Omdurman in Sudan, Winston Churchill, then a second lieutenant in the British army, donated a skin graft to Richard Molyneux, a wounded fellow officer. This contribution ...tells the story of Churchill's skin graft donation within the context of the development of skin grafting as a viable treatment for serious wounds and burns.
We constructed a corpus of digitized texts containing about 4% of all books ever printed. Analysis of this corpus enables us to investigate cultural trends quantitatively. We survey the vast terrain ...of 'culturomics,' focusing on linguistic and cultural phenomena that were reflected in the English language between 1800 and 2000. We show how this approach can provide insights about fields as diverse as lexicography, the evolution of grammar, collective memory, the adoption of technology, the pursuit of fame, censorship, and historical epidemiology. Culturomics extends the boundaries of rigorous quantitative inquiry to a wide array of new phenomena spanning the social sciences and the humanities.
The history of medicine makes it possible to understand both the evolution of the conceptualization of pathological processes, but also the modification of therapeutic principles and patient ...management. In the context of dermatology, we are interested here in the case of Jean-Paul Marat, who was murdered in his bathtub at the end of the 18th century in France and had severe dermatosis. Examination of deposits of pharmaceutical products inside the bathtub in which he spent most of his time made it possible to reconstruct the nosological and therapeutic framework of his dermatosis.
Ludwig van Beethoven (1770–1827) remains among the most influential and popular classical music composers. Health problems significantly impacted his career as a composer and pianist, including ...progressive hearing loss, recurring gastrointestinal complaints, and liver disease. In 1802, Beethoven requested that following his death, his disease be described and made public. Medical biographers have since proposed numerous hypotheses, including many substantially heritable conditions. Here we attempt a genomic analysis of Beethoven in order to elucidate potential underlying genetic and infectious causes of his illnesses. We incorporated improvements in ancient DNA methods into existing protocols for ancient hair samples, enabling the sequencing of high-coverage genomes from small quantities of historical hair. We analyzed eight independently sourced locks of hair attributed to Beethoven, five of which originated from a single European male. We deemed these matching samples to be almost certainly authentic and sequenced Beethoven’s genome to 24-fold genomic coverage. Although we could not identify a genetic explanation for Beethoven's hearing disorder or gastrointestinal problems, we found that Beethoven had a genetic predisposition for liver disease. Metagenomic analyses revealed furthermore that Beethoven had a hepatitis B infection during at least the months prior to his death. Together with the genetic predisposition and his broadly accepted alcohol consumption, these present plausible explanations for Beethoven’s severe liver disease, which culminated in his death. Unexpectedly, an analysis of Y chromosomes sequenced from five living members of the Van Beethoven patrilineage revealed the occurrence of an extra-pair paternity event in Ludwig van Beethoven’s patrilineal ancestry.
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•Eight locks of hair attributed to Ludwig van Beethoven underwent genomic analyses•We deemed five of these authentic and sequenced Beethoven’s genome to high coverage•Beethoven had a predisposition for liver disease and became infected with hepatitis B•We also discovered an extra-pair-paternity event in Beethoven’s paternal line
Begg et al. perform genomic analyses of eight locks of hair attributed to composer Ludwig van Beethoven. They sequence a high-coverage genome, finding strong genetic risk for liver disease that may have been compounded by alcohol and an infection with hepatitis B. An extra-pair paternity event is discovered in Beethoven’s direct patrilineage.
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