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TBK1 in Motor Neurone Disease
Exome sequencing of 2,874 people with motor neurone disease (MND) identified a new gene, TBK1 as important in its pathogenesis. This gene interacts with proteins involved in innate immunity and autophagy, including optineurin and p62, which are putative motor neurone disease genes. Demonstrating just how enriched familial samples are, 252 familial MND cases also, independently, identified TBK1. There were mutations in this gene in 13 families who also had fronto-temporal dementia. These experiments suggest that autophagic pathways are important in the development of motor neurone disease, which in turn, could lead to new treatment opportunities.
Science 2015;347:1436–41 Nat Neurosci 2015;18:631–6
An apple a day..
‘An apple a day keeps the doctor away’ is an adage about sensible dietary advice, not the benefits of Googling your symptoms on a handheld tablet. The maxim was interrogated using a data-linking study in the US; 8728 adults complete the questionnaire. Only 9% were daily apple eaters—but this group had a higher educational attainment, were more likely to be in an ethnic minority, and were less likely to smoke. Daily apple eaters were marginally more likely to avoid receiving a prescription medicine, but were as likely to consult a physician. Currently, this proverb is in equipoise but it sets up our comestible-related Carphology.
JAMA Intern Med 2015;175:777–83.
Google defines ‘serum rhubarb’ as a “test only performed at a tertiary centre”. Neurologists have always been accused of scraping the barrel and requesting each esoteric test that we can recall, but we must not forget the serum rhubarb. A study of oxidative stress in gamma-irradiated cultures of rat embryo neuronal tissue sought to identify the role of rhubarb extract as a neuronal protector. The authors identified a dose-dependent relationship between rhubarb extract and preventing apoptotic neuronal cell death. Next time you are called to the ICU to prognosticate on a baby rat exposed to a Chernobyl-like nuclear fall-out, remember to check the serum rhubarb.
Mol Med Rep 2015;12:2689–94.
Why not try this at home?
Medicine has a rich history of self-experimentation from Barry Marshall and H. pylori (stomach ulcers) to Carrión and bartonellosis (death). It is in this spirit that we value Dan Leopard's valuable addition: how long does it take for certain sweets to dissolve inside someone's nose? This information may help you next time you examine the first cranial nerve, or explore someone's olfactory hallucinations: fizzers took 10–15 minutes to dissolve; TicTacs 25–30 minutes; Smarties 30–35 minutes; Skittles 35–40 minutes; and Polo mints 40–45 minutes.
Clin Otolaryngol 2015.
Cheese at bedtime gives you fatal nightmares
A Fo Ben admits that the temptation to entitle this as ‘Correlation is not cawsation’ was predicated on the PN readership having a sufficient knowledge of the Welsh language to know that caws is cheese. Figure 1 is taken from the tylervigen.com website of spurious correlation, which includes such gems as, ‘How do the films of Nicholas Cage map to swimming pool deaths?’ or the scary similarity in the graphs of ‘Miss America age and the number of people murdered by steam and hot objects’. Until the cheesy-sheet mortality link is fully examined, can we suggest that you try to Brie a little more wise and sleep Caerphilly in your bed at night? www.tylervigen.com/