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The family that doesn’t feel pain

Letizia Marsili, 52, first realised she was different when she was very young.

She had a high thre..

Letizia Marsili, 52, first realised she was different when she was very young.

She had a high threshold for pain, which meant she didn't feel burns or notice broken bones. Five other family members are also affected by the condition which means they are insensitive to pain.

Letizia told the BBC: "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.

"However, in truth, we do feel pain, the perception of pain, but this only lasts for a few seconds."

Scientists believe the condition could be down to some nerves not reacting properly.

Researchers who studied the family hope their discovery of a gene mutation in family members could help chronic-pain sufferers in the future.

"We have opened up a whole new route to drug discovery for pain relief," said Prof Anna Maria Aloisi from the University of Siena in Italy.

How is the family affected?

Letizia's mother, two sons, sister and niece all show signs of being affected by the syndrome that is named after the family – Marsili pain syndrome.

She said pain was an important alarm signal and because they feel it only fleetingly, the family often have fractures that go undetected and this leads to inflammation in their bones.

They also experience burns and other injuries without knowing.

Letizia said her 24-year-old son Ludovico, who plays football, has encountered problems.

"He rarely stays on the ground, even when he is knocked down. However, he has fragility at the ankles and he often suffers distortions, which are micro fractures.

"In fact, recently X-rays have shown that he has lots of micro fractures in both ankles."

She said her younger son Bernardo, 21, had a calcification of the elbow without even realising he had broken it after falling off his bike. He continued to cycle for another nine miles.

Letizia says she fractured her right shoulder while skiing but continued to ski all afternoon, only going to the hospital the next morning because her fingers were tingling.

The same thing happened when she broke a bone in her elbow playing tennis.

"Because of a lack of pain, it got so stressed that it ended up breaking," she says.

But the worst thing, she says, has been problems in her mouth because of a tooth implant that went wrong.

Letizia's mother, Maria Domenica, 78, has had a number of fractures which have never healed properly and have hardened naturally. She often suffers burns because she doesn't feel any pain.

Her sister Maria Elena often damages the top of her mouth because she burns herself with hot drinks, and her daughter Virginia once left her hand in ice for about 20 minutes without feeling pain.

Despite all this, Letizia says she has never seen the condition "as a negative for our lives".

Why do they feel little pain?

Lead study author Dr James Cox, from University College London, said the Marsili family members had all their nerves present, but "they're just not working how they should be".

He said: "We're working to gain a better understanding of exactly why they don't feel much pain, to see if that could help us find new pain relief treatments."

The research team, whose findings are published in the journal Brain, worked with the family to find out the nature of their phenotype – the observable characteristics caused by their genetics.

The Marsili syndrome, named after them, means the affected individuals are less than normally sensitive (or hyposensitive) to extreme heat, capsaicin in chilli peppers and have experienced pain-free bone fractures.

What did scientists discover about their genes?

The researchers mapped out the protein-coding genes in each family member's genome and found a mutation in the ZFHX2 gene.

They then conducted two studies in mice which had been bred without this gene and found that their pain thresholds had been altered.

When they bred a new line of mice with the relevant mutation, they found they were notably insensitive to high temperatures.

Prof Aloisi said: "With more research to understand exactly how the mutation impacts pain sensitivity, and to see what other genes might be involved, we could identify novel targets for drug development."

The family is believed to be the only one in the world to be affected by this faulty gene.

Additional reporting by Mauro Galluzzo

Original Article

BBC

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Monkeypox: First deaths outside Africa in Brazil and Spain

Brazil and Spain have reported their first monkeypox deaths.

A 41-year-old man in Brazil became the first fatality from the virus outside Africa. Spain announced two deaths soon afterwards – the first in Europe.

Last week, the World Health Organization (WHO) declared the monkeypox outbreak a global health emergency.

But infections are usually mild and the risk to the general population is low.

On Friday Brazil’s health ministry said the victim there had suffered from lymphoma and a weakened immune system, and “comorbidities aggravated his condition”.

Brazil has so far reported 1,066 confirmed cases and 513 suspected cases of the virus. Data from Brazil’s health ministry indicates that more than 98% of confirmed cases were in men who have sex with men.

Shortly afterwards, Spain’s health ministry confirmed Europe’s first death from the virus – a patient who suffered from encephalitis.

A second death linked to monkeypox was confirmed by Spanish authorities on Saturday.

The health ministry said that of 3,750 monkeypox patients with available information, 120 or 3.2% had been hospitalised.

According to the US Centers for Disease Control and Prevention, there are 21,148 cases worldwide.

The monkeypox virus is a member of the same family of viruses as smallpox, although it is much less severe and experts say chances of infection are low.

It occurs mostly in remote parts of central and west African countries, near tropical rainforests.

Health officials are recommending people at highest risk of exposure to the virus – including some gay and bisexual men, as well as some healthcare workers – should be offered a vaccine.

Last week, WHO director general Dr Tedros Adhanom Ghebreyesus said declaring the outbreak a global health emergency would help speed up the development of vaccines and the implementation of measures to limit the spread of the virus.

Dr Tedros said the risk of monkeypox is moderate globally, but high in Europe.

But, he added, “this is an outbreak that can be stopped with the right strategies in the right groups”. The WHO is issuing recommendations, which it hopes will spur countries to take action to stop transmission of the virus and protect those most at risk.

 

Read from: https://www.bbc.com/news/health-62350022

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Covid: Woman caught virus twice within record 20 days

A 31-year-old healthcare worker caught Covid twice within 20 days – the shortest-known gap between infections, Spanish researchers have claimed.

Tests show the woman was infected with two different variants – Delta in late December and then Omicron in January.

This shows that even if you have had Covid before, you can still be infected again even if fully vaccinated, the researchers say.

Reinfections in the UK require 90 days between positive tests.

Based on that definition, health officials say nearly 900,000 people have potentially been infected twice with Covid up to the start of April.

It is difficult to pin down an exact number, because only whole genome sequencing can confirm the infections are caused by different strains, and very few positive tests go through this process.

The Spaniard did not develop any symptoms after her first positive PCR test, but less than three weeks later she developed a cough and fever which prompted her to take another test.

When the tests were analysed further, they showed the patient had been infected by two different strains of coronavirus.

In a presentation at the European Congress of Clinical Microbiology and Infectious Diseases, study author Dr. Gemma Recio said the case highlighted that Omicron can “evade the previous immunity acquired either from a natural infection with other variants or from vaccines”.

She said: “In other words, people who have had Covid-19 cannot assume they are protected against reinfection, even if they have been fully vaccinated.

“Nevertheless, both previous infection with other variants and vaccination do seem to partially protect against severe disease and hospitalisation in those with Omicron,” added Dr Recio, from the Institut Catala de Salut, Tarragona in Spain.

She said monitoring reinfections in people who were fully vaccinated was important, and would help the search for variants which evade vaccines.

Covid reinfections rose sharply in December 2021 after the much more infectious Omicron variant emerged, and there was another increase when a slightly different version of it, called BA.2, appeared in early March.

Before that, 1% of all cases recorded in the UK were labelled as second infection – but that has now gone up to 11%.

Most are likely to be people infected by the Alpha or Delta variants and then infected again by the more contagious Omicron.

Scientists predict that eventually everyone will catch Covid twice, and probably many more times over the course of their lifetime.

Read from: https://www.bbc.com/news/health-61161529

 

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Poverty, crime linked to differences in newborns’ brains

Poverty and crime can have devastating effects on a child’s health. But a new study from researchers at Washington University School of Medicine in St. Louis suggests that some environmental factors influence the structure and function of young brains even before babies make their entrances into the world.

A study published online in the journal JAMA Network Open found that MRI scans performed on healthy newborns. At the same time, they slept indicated that babies facing social disadvantages such as poverty tended to be born with smaller brains than babies whose mothers had higher household incomes.

MRI scans of full-term newborns born to mothers living in poverty revealed smaller volumes across the entire brain — including the cortical grey matter, subcortical grey matter and white matter — than found in the brains of babies whose mothers had higher household incomes.

The brain scans, conducted only a few days to weeks after birth, also showed more miniature folding of the brain among infants born to mothers living in poverty. Fewer and shallower folds typically signify brain immaturity. The healthy human brain folds as it grows and develops, providing the cerebral cortex with a more extensive functional surface area.

A second study of data from the same sample of 399 mothers and their babies — this one published online in the journal Biological Psychiatry — reports that pregnant mothers from neighbourhoods with high crime rates gave birth to infants whose brains functioned differently during their first weeks of life than babies born to mothers living in safer neighbourhoods.

Functional MRI scans of babies whose mothers were exposed to crime displayed weaker connections between brain structures that process emotions and structures that help regulate and control those emotions. Maternal stress is believed to be one of the reasons for the weaker connections in the babies’ brains.

“These studies demonstrate that a mother’s experiences during pregnancy can have a major impact on her infant’s brain development,” said Christopher D. Smyser, MD, one of the principal investigators. “Like that old song about how the ‘knee bone is connected to the shin bone,’ there’s a saying about the brain that ‘areas that fire together wire together.’ We’re analysing how brain regions develop and form early functional networks because how those structures develop and work together may impact long-term development and behaviour.”

Babies in the study were born from 2017 through 2020, before the COVID-19 pandemic. Smyser, a professor of neurology, paediatrics and radiology, said that babies are fed when they arrive for scans because they tend to fall asleep after eating to scan newborns during the first few weeks of life successfully. They are then snugly swaddled into blankets and a device that helps keep them comfortable and still. The brain scans take place while they sleep.

In the study involving the effects of poverty, the researchers focused on 280 mothers and their newborns. First author Regina L. Triplett, MD, a postdoctoral fellow in neurology, had expected to find that maternal poverty — referred to in the paper as a social disadvantage — could affect the babies’ developing brains. But she also expected to see the effects of psychosocial stress, which includes measures of adverse life experiences and anxiety and depression.

“Social disadvantage

affected the brain across many of its structures, but there were no significant effects related to psychosocial stress,” Triplett said. “Our concern is that as babies begin life with these smaller brain structures, their brains may not develop as healthy as the brains of babies whose mothers lived in higher-income households.”

In the second study, which implicated living in high-crime neighbourhoods as a factor in weaker functional connections in the brains of newborns, first author Rebecca G. Brady, a graduate student in the university’s Medical Scientist Training Program, found that unlike the effects of poverty, the results of exposure to crime were focused on particular areas of the babies’ brains.

“Instead of a brain-wide effect, living in a high-crime area during pregnancy seems to have more specific effects on the emotion-processing regions of babies’ brains,” Brady said. “We found that this weakening of the functional connections between emotion-processing structures in the babies’ brains was robust when we controlled for other types of adversity, such as poverty. It appears that stresses linked to crime had more specific effects on brain function.”

Reducing poverty and lowering crime rates are well-established goals in public policy and health. And the researchers believe protecting expectant mothers from crime and helping them out of poverty will do more than improve brain growth and connections in their babies. But if social programs that aim to help people reach their full potential are to succeed, the researchers said the policies must focus on assisting people even before they are born.

“Several research projects around the country are now providing money for living expenses to pregnant mothers. Some cities have determined that raising pregnant mothers out of poverty is good public policy,” Smyser said. “The evidence we’re gathering from these studies certainly would support that idea.”

 

Read from: https://www.technology.org/2022/04/13/poverty-crime-change-newborns-brains/

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