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
Burkina Faso: Growing Violence Threatens Health Care
Away from the worlds attention, Burkina Faso has been slipping into violence. In less than a year, t..
Away from the worlds attention, Burkina Faso has been slipping into violence. In less than a year, the number of displaced has increased fivefold, from 50,000 last December, to 270,000 in August. As ever, the most vulnerable suffer most: the very young, and the very old.
When Alidou Sawadogos elderly mother fell ill, he faced a long and dangerous journey to get treatment for her.
“When she collapsed, a friend called me,” he explains. “By the time I arrived she was already unconscious. I decided to take her to the health center and luckily someone who had a motorcycle helped me. Because of the violence many people who are sick wait at home and die. Everyone is afraid of taking the road to the health center in Barsalogho.”
Across Burkina Faso, the rising insecurity has forced over a hundred health centers to close, or to limit their work. Half a million people now have little or no access to health care. Dedicated health workers, among them Dr Bertrand Dibli in Barsalogho, are struggling to meet the needs, and to stay safe themselves.
“This is one of the few health centers that isnt closed,” he says. “We dont have enough equipment. And the insecurity has caused huge anxiety among health workers. Even coming here to Barsalogho is a huge challenge because the route is so dangerous.”
The ICRC has been working to support Burkina Fasos health professionals, with medical kits, and vaccination campaigns. During his visit to the country, ICRC President Peter Maurer expressed his concern at the multiple challenges facing Burkina Fasos people.
“We are very concerned,” he said. “Very worried about the upsurge in violence, its a vicious circle that is trapping the civilian population between armed groups.”
“We also see,” Mr Maurer added, “that it is not only the violence that is affecting the country, it is also under development, and climate change. Together with the violence that is obstructing the health services, its an accumulation of factors.”
And so the ICRC – jointly with the Burkinabé Red Cross – is also delivering food to the displaced, and helping to improve access to water supplies. All of this, says nurse Jeanette Kientega, is desperately needed by a population uprooted by conflict, and denied access to basic health care.
“By the time they are able to get here, it is often too late” she says. “Sometimes we can help, but if they have already been ill a long time, it is difficult. We try to do what we can.” (more…)
World Bank and WHO Statement on Partnership & Deployment of Financing to WHO for Ebola Response in DRC
WASHINGTON, August 23, 2019—The World Bank and the World Health Organization (WHO), along with the G..
WASHINGTON, August 23, 2019—The World Bank and the World Health Organization (WHO), along with the Government and other key partners, are working in close partnership on the Ebola Crisis Response in the Democratic Republic of the Congo (DRC). Central to this partnership is the assessment of the financing needs, and deployment of resources, with the goal to put an end to the current deadly outbreak.
The World Bank is today announcing that US$50 million in funding is to be released to WHO for its lifesaving operational work on the frontlines of the outbreak. The WHO is announcing that this US$50 million in funds will close the financing gap for its emergency health response in DRC through to the end of September 2019, and is calling on other partners to mirror this generous support in order to fund the response through to December.
The funding comprises US$30 million from the Pandemic Emergency Financing Facility (PEF) and US$20 million from the World Bank. The US$50 million in grant funding is part of the larger financial package of approximately US$300 million that the World Bank announced last month to support the fourth Strategic Response Plan for the DRC Ebola outbreak.
“WHO is very grateful for the World Banks support, which fills a critical gap in our immediate needs for Ebola response efforts in DRC, and will enable the heroic workers on the frontlines of this fight to continue their lifesaving work,” said Dr. Tedros Adhanom Ghebreyesus, Director-General, World Health Organization. “We keenly await further funding from other partners to sustain the response through to the end of the year.”
The DRC government, working in collaboration with the World Bank, WHO, and other key partners, has finalized the Fourth Strategic Response Plan (SRP4), which outlines the total resources needed for the DRC Ebola Crisis Response from July to December 2019. The financing announced today is part of the World Banks previously announced financial package of up to US$300 million and covers over half of SRP4s needs, with the remainder requiring additional funding from other donors and partners.
“The World Bank is working closely with WHO, the Government of DRC, and all partners to do everything we can to put an end to the latest Ebola outbreak,” said Annette Dixon, Vice President, Human Development at the World Bank. “The partnership between our organizations and the Government is critical for responding to the emergency as well as rebuilding systems for delivery of basic services and to restoring the trust of communities.”
The Government of DRC requested US$30 million from the PEF Cash Window to be paid directly to WHO. The PEF Steering Body approved the request bringing the PEFs total contribution to fighting Ebola in DRC to US$61.4 million. The PEF is a financing mechanism housed at the World Bank; its Steering Body is co-chaired by the World Bank and WHO, and comprises donor country members from Japan, Germany and Australia. The quick and flexible financing it provides saves lives, by enabling governments and international responders to concentrate on fighting Ebola—not fundraising.
Borno State launches first Malaria Operational Plan, reawakens fight against malaria
Maiduguri, 13 August 2019 – Following recommendations from malaria interventions in Borno State Nige..
Maiduguri, 13 August 2019 – Following recommendations from malaria interventions in Borno State Nigeria, the Malaria Annual Operational Plan (MAOP) was developed and launched on 08 August 2019 with technical support from the World Health Organization (WHO) and partners. Aligned to the National Malaria Strategic Plan (2014 -2020), MAOP was developed through a broad-based stakeholders workshop involving malaria stakeholders, reviewed on different thematic areas and endorsed by the Commissioner for Health and Permanent Secretary, Borno State Ministry of Health.
Speaking during the launch, the Borno state Malaria Programme Manager, Mr Mala Waziri described the MAOP as the first to be endorsed and disseminated in Borno State. “WHO has made us proud by supporting the first ever Malaria Operational Plan right from development, review, printing to dissemination.”
Dr Ibrahim Kida, the Ministerial Secretary Borno State Ministry of Health and Incident Manager of the state, described the launch as “an historic event as stakeholders across the health sector made commitments to use the document as an implementation guide for all malaria programs”. The plan was also described as an advocacy tool for planning domestic funds mobilization.
The MAOP has seven objectives among which are: provide at least 50% of targeted population with appropriate preventive measures by 2020; ensure that all persons with suspected malaria who seek care are tested with Rapid Diagnostic Test (RDT) or microscopy by 2020 and all persons with confirmed malaria seen in private or public health facilities receive prompt treatment with an effective anti-malarial drug by 2020.
The MAOP will further ensure that at least 50% of the population practice appropriate malaria prevention and management by 2020, ensuring timely availability of appropriate anti-malarial medicines and commodities required for prevention, diagnosis and treatment of malaria in Borno State by 2020.
In addition, it seeks to ensure that all health facilities report on key malaria indicators routinely by 2020 and finally strengthen governance and coordination of all stakeholders for effective program implementation towards an A rating by 2020 on a standardized scorecard. These strategic objectives have specific targets and the MAOP takes into account the humanitarian response.
“Malaria remains a leading cause of poor health in Nigeria. According to the 2018 WHO Malaria Report, 53million cases are recorded annually in Nigeria, roughly 1 in 4 persons is infected with malaria contributing 25% of the global burden,” says Dr Nglass Ini Abasi, WHO Malaria Consultant for the North East.
“Furthermore, 81,640 deaths are recorded annually (9 deaths every hour), which accounts for 19% of global malaria deaths (1 in 5 global malaria deaths) and 45% malaria deaths in West Africa. The Nigeria Malaria Strategic Plan (NMSP) 2014-2020 has a goal to reduce malaria burden to pre-elimination levels and bring malaria-related mortality to zero and WHO is working assiduously with Government to ensure the burden is reduced accordingly.”
Results from WHO’s Early Warning, Alert and Response System (EWARS) week 30 report from 223 sites, (including 32 IDP camps) show that malaria was the leading cause of morbidity and mortality accounting for 35% of cases and 46% of reported deaths. In addition, results from the Nigeria Humanitarian Response Strategy (NHRS 2019-2021) indicate 7.1million people are in dire need of healthcare and 6.2million are targeted for immediate attention.
Despite recent improvements, insecurity remains a challenge limiting access to the functional health facilities. Easily preventable and treatable diseases such as malaria, acute respiratory infection and diarrheal diseases account for the greatest proportion of morbidity and mortality among the vulnerable population. Furthermore, Malaria is endemic in North East Nigeria and the transmission is perennial with a marked seasonal peak from July to November every year. (more…)
Australia2 years ago
Button and Diane Powellpark the school bus after three decades
Australia3 years ago
60th Annual Louth Cup 2018 | Photos
Australia3 years ago
A good attendance for planning ahead
Australia3 years ago
Severe, unusual weather likely to cause damage
Australia3 years ago
Ten ways to scrap plastic without breaking the bank
World3 years ago
Know-how: Canadian hospital first to сure patients with virtual reality
World3 years ago
Сhinese navy jets master daring night maneuvers on aircraft carrier (VIDEO)
fun4 years ago
Will Gompertz reviews Lin-Manuel Miranda’s musical Hamilton ★★★★★