MEDICAL BAG
This month: The Italian family who feel no pain, the girl who smells colours and an alarming example of the perils of plastic packaging...
THAT DIDN’T HURT
An entire Italian family suffer from a strange genetic mutation that makes them almost completely immune to pain. The condition is so rare that scientists have named it ‘The Marsili Syndrome’, after the family. Letizia Marsili, 52, became aware of her immunity to pain in early childhood when she didn’t experience any particular sensation from burns or fractures. Five other members of her family, spanning at least three generations, also share this rare genetic anomaly. “From day to day we live a very normal life, perhaps better than the rest of the population, because we very rarely get unwell and we hardly feel any pain,” said Letizia. “However, in truth, we do feel pain, the perception of pain, but this only lasts for a few seconds.” While the mutation might seem to function like a superpower, it can also be dangerous. Since the Marsilis only feel pain for a few seconds, they often leave injuries untreated.
Letizia once fractured her right shoulder while skiing, but continued to ski all afternoon. She only went to hospital the next morning because her fingers were tingling. Her sister Maria Elena often damages the top of her mouth, because she burns herself with hot drinks. Letizia’s 24-year-old son Ludovico, who plays football, often gets injured, but just keeps on going, regardless how serious the injury. “He recently received X-rays of the joints, which showed that he has many microcracks in the ankle,” said Letizia. Her youngest son, 21-year-old Bernardo, fractured his elbow joint after falling from a bicycle, but he didn’t even notice. After the fall, he simply got up and cycled a further 14km (9 miles) as if nothing had happened. Doctors only discovered the trauma when his bone began to heal. The Marsilis have become the focus of researchers hoping to discover how their mutation works, and so develop new ways of pain management. After genetic mapping the family, James Cox of University College London and his colleagues isolated the variant shared by the Marsilis – a gene called ZFHX2. They then conducted two tests on mice and deter- mined that the mice that were grown with a similar genetic mutation were also oblivious to pain. odditycentral.com, 21 Dec 2017.
SMELLING COLOURS
Last year, Deepti Regmi, an 11-year-old girl from Nepal, spontaneously developed the ability to smell colours, an unusual variant of synæsthesia. She is also allegedly able to read newsprint by feeling it. Deepti, who believes her ability is a gift from God, has been training to sharpen her sense of smell, hoping eventually to use it to help the visually impaired. Footage shot by Puskar Nepal shows her identifying colours while blindfolded by sniffing various objects.
According to the American Psychological Association, around one in 2,000 people globally are affected by synæsthesia, the cause of which is currently unknown. There does appear to be a genetic factor in some cases, but the condition often occurs completely spontaneously as well. Synæsthetes are predominately female. They are said to be eight times more likely to work in creative fields, and musicians with synæsthesia are particularly common. Mary J Blige, Frank Ocean, Tori Amos, Billy Joel, and Pharell Williams have all been diagnosed with the condition. Famous synæsthetes include Vladimir Nabokov, Vincent Van Gogh and Duke Ellington.
Storytrender, via Caters News Agency and odditycentral.com, 26 Oct 2017.
REPRIEVE FOR RATS
Rats and their fleas were once thought to have spread a series of plague outbreaks in 14th-19th century Europe, but a team from the universities of Oslo and Ferrara now says the major pandemic known as the Black Death can be largely ascribed to human ectoparasites (fleas and body lice). The study, in the Proceedings of the National
Academy of Science, analysed records of the plague’s pattern and scale. The Black Death claimed an estimated 25 million lives, more than a third of Europe’s population, between 1347 and 1351. “We have good mortality data from outbreaks in nine cities in Europe,” said Prof Nils Stenseth, from the University of Oslo, “so we could construct models of the disease dynamics [there].”
Prof Stenseth and his colleagues then simulated disease outbreaks in each of these cities, creating three models where the disease was spread either by rats, airborne transmission, or fleas and lice that live on humans and their clothes. In seven out of the nine cities studied, the “human parasite model” was the best match for the pattern of the outbreak. It mirrored how quickly it spread and how many people it affected. “The conclusion was very clear,” said Prof Stenseth. “The lice model fits best. It would be unlikely to
spread as fast as it did if it was transmitted by rats. It would have to go through this extra loop of the rats, rather than being spread from person to person.”
Plague is still endemic in some countries of Asia, Africa and the Americas, where it persists in “reservoirs” of infected rodents [see
FT361:11]. According to the World Health Organization, from 2010 to 2015 there were 3,248 cases reported worldwide, including 584 deaths. In 2001, a study that decoded the plague genome used a bacterium that had come from a vet in the US who had died in 1992 after a plague-infested cat sneezed on him as he had been trying to rescue it from underneath a house. BBC News, 15 Jan; D.Mail, 16 Jan; Sun, 17 Jan 2018.
DANGERS OF KETCHUP
For six years, an unnamed 41-year-old woman suffered bouts of acute abdominal pain and bloating lasting up to three days – prompting doctors to diagnose Crohn’s disease, which affects at least 115,000 people in the UK and millions more worldwide. The exact cause is unclear, but it is thought to be a combination of genetic and environmental triggers. There’s currently no cure but treatment can help to relieve symptoms. When the woman failed to respond to standard medication, doctors at Heatherwood and Wexham Park Hospital in Slough decided to operate. Keyhole surgery found an inflamed mass in the small intestine, revealing two pieces of plastic packaging bearing the Heinz logo, apparently from a sachet of ketchup, piercing her intestine. She had no memory of consuming a meal involving the sachet. Once removed, her symptoms were cured almost immediately. Doctors writing in the British Medical Journal said it was the first reported case of ingested plastic packaging mimicking the symptoms of Crohn’s disease. dailymail.co.uk, 3 Jan 2018.