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Medical Mysteries, Bizarre Cases

Talk about blue in the face... Extraordinary story of Appalachia's 'Blue Family' whose bodies were discoloured after generations of inbreeding
By Daily Mail Reporter
Last updated at 6:03 PM on 16th February 2012

In the Appalachian Mountains rests a medical oddity so unusual that it at first seems a massive hoax.
Dating back to the early 1800s, an isolated family in eastern Kentucky - who can trace their roots back to a French orphan - started producing children who were blue.
As a result of a coincidental meeting of recessive genes, intermarriage and inbreeding, members of the Fugate family were born with a rare condition that made them visibly discoloured.
The mystery behind the astonishing picture of the Fugates, which has been baffling people for years, appears to have finally been solved.

It began when Martin Fugate, a French orphan, settled on the banks of eastern Kentucky's Troublesome Creek to claim a land grant in the early 19th century.
He married a red-haired American named Elizabeth Smith - who had a very pale complexion - and their union formed a genetic mutation that resulted in their descendants being born with blue skin.
Looking at the portrait, they appear to have been either Photoshopped or made up to mimic characters from children's cartoon The Smurfs, but science proves that the condition is in fact real.

Called methaemoglobinaemia (commonly known as met-H), the condition reduces the individual’s ability to carry oxygen in their blood. As a result, their blood is darker than the colour typically found running through people’s veins.
Because the Fugate family lived in such an isolated part of the Kentucky, they intermarried with a neighbouring family for generations which led to a relatively ‘pure’ gene pool where the met-H gene appeared much more frequently.

The family was first discovered in 1958 when one of the blue men, Luke Combs, who was a descendant of another branch of the Fugate family, took his white wife to the University of Kentucky Hospital and doctors paid more attention to him than his wife.
‘Luke was just as blue as Lake Louise on a cool summer day,’ doctor Charles H. Behlen II told the Tri-City Herald in 1974.
Aside from the stark discoloration of the carrier’s skin, there are no serious problems associated with the disease.

In 1980, a counter-intuitive solution was discovered where the blue person drinks a chemical-filled solution that is itself blue. This then turns the carrier’s blood into a ‘normal’ red hue which is then reflected in a change in skin tone.
Because of the dispersion of fluids, the solution only lasts for about a day so the carrier would have to drink a serving every day.

As eastern Kentucky has become vastly more populated than the early 19th century, and as more genes are married into the Fugate family tree, there were far fewer children born with the condition.
That said, the recessive met-H gene lingers to this day, but it is statistically insignificant now.

‘They weren’t sick; it was just the way they look,’ said nurse Ruth Pendergrass in the Tri-City Herald article. 'They’re normal people - they’re good people.’

Read more: http://www.dailymail.co.uk/news/article ... z1mdG4lP4f

Makes me wonder if something similar caused the Green Children
http://en.wikipedia.org/wiki/Green_children_of_Woolpit

EDIT: Thread here:
http://www.forteantimes.com/forum/viewt ... 3899#93899
 
This is a very minor mystery, but IHTM so I find it interesting!

About ten days ago I stupidly managed to gash both my thumbs on an empty can I was preparing for recycling. It took ages to stop the bleeding, but eventually I managed to get sticking plasters over the wounds. I've been changing the plasters every day after my shower, and the wounds seem to be healing OK.

But today after my shower I decided to cut my nails, and found that though those on my fingers had got rather long, the nails on my thumbs hardly needed cutting at all!

I can think of two possible reasons:
A. The physical constraint of the plasters over the nails prevented them from growing
or
B. My body was diverting resources from nail growth to wound healing.
(Or perhaps both.)

Has anyone else experienced something similar?
 
Cornish alpaca TB campaigner Dianne Summers has disease

A woman from Cornwall who received an award for her campaign for compulsory tuberculosis (TB) testing of alpacas has contracted the illness.
Dianne Summers, from Redruth, had eight of the animals put down in 2008-09 when they tested positive for bovine TB.
She said she believed she contracted the disease from the animals and was undergoing nine months of treatment.

Bovine TB, which can take years to develop, damages animals' lungs and leads to death if not treated.
Ms Summers received an award from the British Alpaca Society (BAS), which promotes the welfare of alpacas and llamas for the campaign.

Libby Henson, from the society, said: "We're all very upset."
She added: "Di's the member who knows the most about TB and is on the ground and gives advice to other owners who's herd have been infected, which is why this has possibly happened.
"She's quite poorly but she's started the treatment, which is quite a long process. But at least she now is being treated."

Bovine TB is believed to be primarily passed from one animal to another by breathing in bacteria.
It is a notifiable disease, which means there is a legal requirement to report it if it is present - or suspected in a herd - but there is currently no legal requirement for animals to be regularly tested.

Alpacas have little resistance to TB and can die within six months of catching it, the BAS said.
There are currently 1,500 alpaca owners of an estimated 35,000 animals registered with the British Alpaca Society.
The animals, which originally come from the high plains of Peru, Bolivia and Chile in South America, are normally bred for their wool.

http://www.bbc.co.uk/news/uk-england-cornwall-17852475

According to the Q&As (linked on the page)

Can the disease spread to humans?

Bovine TB can be passed on to humans but instances of this happening are very rare, mainly due to the introduction of pasteurised milk.
 
A beautiful mind: College dropout became genius after brutal street attack and now turns mathmatical formulae into stunning works of art
By Rob Preece
PUBLISHED: 10:56, 28 April 2012 | UPDATED: 11:12, 28 April 2012

A college dropout has been hailed a unique maths genius - after his brain was damaged in a brutal attack by muggers.
Jason Padgett, 41, was left concussed after he was ambushed outside a karaoke club and repeatedly kicked in the head.

Now, wherever he looks, he sees mathematical formulas and turns them into stunning, intricate diagrams he can draw by hand.
He is the only person in the world known to have the skill and experts say it was caused by his head injury.
They believe the damage to Mr Padgett's brain has left him with a 'remarkable gift' for figures, much like the brilliant mathematician John Nash.

Mr Padgett, who works behind the counter at a furniture store in Tacoma, in the U.S. state of Washington, told ABC News: 'I’m obsessed with numbers, geometry specifically.
'I literally dream about it. There’s not a moment that I can’t see it, and it just doesn’t turn off.'

Mr Padgett does not have a PhD, a degree or even a background in maths.
Instead, his talent was born out of a true medical mystery that scientists around the world are still trying to unravel.

Ten years ago, Mr Padgett was only interested in two things: working out and partying.
One night he was walking out of a karaoke club in Tacoma when he was set upon by muggers who beat and kicked him in the head repeatedly.
The unlikely genius thought he was going to be killed as his attackers went for his $99 leather jacket.
'All I saw was a bright flash of light and the next thing I knew I was on my knees on the ground and I thought, "I’m gonna get killed",' he said.

At the time, doctors said he had a concussion, but within a day or two, Mr Padgett began to notice something remarkable.
A college dropout who could not draw became obsessed with producing intricate diagrams, but he had no idea what they were.
'I see bits and pieces of the Pythagorean theorem everywhere,' he said.
'Every single little curve, every single spiral, every tree is part of that equation.'

Mr Padgett draws diagrams called fractals.
He can produce a visual representation of the formula Pi, the infinite number which begins with 3.14.
He said: 'A fractal is a shape that when you take the shape a part into pieces, the pieces are the same or similar to the whole.
'So say I had 1,000 pictures of you, that were little and I put all those little pictures of you in the right spot to make the exact same picture of you, but bigger.'

Much like Nash, who was played by Russell Crowe in the 2001 film, A Beautiful Mind, researchers believe Mr Padgett has a remarkable gift.
To better understand how his brain works, neuroscientist and philosophy professor Berit Brogaard and her team flew Mr Padgett to Finland to run a series of tests.
A scan showed damage that was forcing his brain to overcompensate in certain areas that most people do not have access to.

Prof Brogaard, who is based at the Center for Neurodynamics at the University of Missouri-St. Louis, said the result that Mr Padgett is now an acquired savant, meaning brilliant in a specific area.
'Savant syndrome is the development of a particular skill, that can be mathematical, spatial, or autistic, that develop to an extreme degree that sort of makes a person superhuman,' the professor added.

Mr Padgett said his goal was to get out of the furniture store and into the classroom to hopefully teach others that maths is as beautiful and natural as the world around us.
When asked if he thought his talent was a burden or a gift, he said it was a mixture of both.
'Sometimes I would really like to turn it off, and it won’t,' he said.
'But the good far outweighs the bad. I would not give it up for anything.'
Mr Padgett sells his pictures, which can also be viewed here:
http://fineartamerica.com/profiles/jason-padgett.html

Read more: http://www.dailymail.co.uk/news/article ... z1tQ6C0weD
 
That's the first time I've heard of brain damage improving someone's IQ.
 
US man contracts the plague saving a mouse
A man in Oregon is severely ill in hospital with a suspected case of the plague, thought to have been contracted as he tried saving a mouse from the jaws of a stray cat in his neighbourhood.
By Amy Willis, Los Angeles
6:34AM BST 15 Jun 2012

The unnamed man, said to be in his 50s, was bitten as he attempted to extract the rodent from the cat’s mouth, althought it was unclear from which animal he caught the disease.
"Taking a mouse out of a cat's mouth is probably not a good idea," said Emilio DeBess, the public health veterinarian for Oregon.

After falling ill with a fever a few days later, he checked into a hospital where doctors said he was exhibiting classic symptoms of the devastating 14th Century disease.
Initially he showed signs of the Bubonic plague, including swollen lymph nodes in his armpits and groin. He then had abdominal pains and bleeding – a symptom of Septicaemic plague.

The Black Death, one of the worst pandemics in human history, was caused by an outbreak of the plague, resulting in the deaths of 25 million people in Europe between 1348 and 1350.

The man is undergoing tests to confirm the diagnosis.
Modern drugs can cure the disease if administered soon enough – however a vaccine for the plague is not currently sold in America. Without the inoculation, around 70 per cent of plague victims usually die within a few days of exposure.
“This can be a serious illness. But it is treatable with antibiotics, and it's also preventable," Dr DeBess said.

The bacterium that causes the plague, Yersinia pestis, is carried by rodents and other carnivores including cats and dogs. There are around 10 to 20 cases of the plague each year, most contracted through fleas that have feasted on the blood of an infected animal.
Only four people have died from the disease since 1934.

The cat, which had been living in the man’s neighbourhood for around six years, has since died and its body is being examined by experts.

http://www.telegraph.co.uk/health/healt ... mouse.html
 
US teen survives spear through brain

A US teenager's survival after a spear was shot through his brain is a miracle, doctors say.
Yasser Lopez, 16, is recovering after he was accidentally hit with a spear gun by a friend during a Florida fishing trip this month.
Medics at Jackson Memorial Hospital in Miami said the 3ft (90cm) projectile entered his brain over his right eye and went out the back of his head.
He is now out of bed and speaking following a three-hour operation.

Medics said he was awake as he arrived at hospital, and became "agitated".
After sedating the teenager, part of the stainless steel spear had to be severed with a mechanical cutter so he could fit into the CT scanner.

Doctors said the teenager has no memory of the freak accident.
He was shot with the projectile as he swam in a lake near his Miami area home on 8 June when his friend set off the trigger of a spear gun he was loading.

While medics are not sure of the extent of the damage to his memory and other parts of the brain, they say his condition could have been much worse.
"It's a miracle the spear missed all the main blood vessels of the brain," neurosurgeon Ross Bullock told reporters.

Also helpful, doctors say, was the foreign object's trajectory into the right side of the brain, Mr Lopez's non-dominant lobe, missing the parts responsible for speech and other important functions.

http://www.bbc.co.uk/news/world-us-canada-18509408
 
rynner2 said:
US teen survives spear through brain

A US teenager's survival after a spear was shot through his brain is a miracle, doctors say.
Yasser Lopez, 16, is recovering after he was accidentally hit with a spear gun by a friend during a Florida fishing trip this month.
Medics at Jackson Memorial Hospital in Miami said the 3ft (90cm) projectile entered his brain over his right eye and went out the back of his head.
He is now out of bed and speaking following a three-hour operation.

Medics said he was awake as he arrived at hospital, and became "agitated".
After sedating the teenager, part of the stainless steel spear had to be severed with a mechanical cutter so he could fit into the CT scanner.

Doctors said the teenager has no memory of the freak accident.
He was shot with the projectile as he swam in a lake near his Miami area home on 8 June when his friend set off the trigger of a spear gun he was loading.

While medics are not sure of the extent of the damage to his memory and other parts of the brain, they say his condition could have been much worse.
"It's a miracle the spear missed all the main blood vessels of the brain," neurosurgeon Ross Bullock told reporters.

Also helpful, doctors say, was the foreign object's trajectory into the right side of the brain, Mr Lopez's non-dominant lobe, missing the parts responsible for speech and other important functions.

http://www.bbc.co.uk/news/world-us-canada-18509408
Click to expand...
Phinneas Gage laughs, calls him an amateur! :lol:
 
Tumour op in womb saves foetus

Surgeons have removed a tumour from the mouth of a foetus, in what has been described as a "world first" procedure.
After a scan at 17 weeks, mother Tammy Gonzalez said she "could see a bubble" coming out of her baby's mouth.
Doctors said it was a very rare tumour called an oral teratoma and there was little chance her daughter would survive.
After the pioneering operation, baby Leyna was born five months later.

Doctors at the Jackson Memorial Hospital in Florida, said this type of tumour was so rare it had been seen only once in 20 years at the hospital.

In the procedure, Mrs Gonzalez was put under a local anaesthetic as a needle was pushed through the protective amniotic sac around the foetus.
A laser was then used to cut the tumour from Leyna's lips. The operation lasted just over an hour.

Tammy told a press conference in Miami: "When they finally severed the whole thing off and I could see it floating down, it was like this huge weight had been lifted off me and I could finally see her face."
She described the surgeons as "saviours".

The doctors said: "To our knowledge, this is the first successful treatment of a foetal oral teratoma in utero."
Leyna Mykaella Gonzalez was born in October 2010 weighing 8lb 1oz. She is now a healthy 20-month-old child.
The only sign of her life-saving surgery is a tiny scar on her mouth.

The details have only just emerged after the operation was reported in the American Journal of Obstetrics & Gynecology.

http://www.bbc.co.uk/news/health-18548506
 
Is the young woman in this video really suffering from a unique medical condition?

Found in FT Breaking News

Some of the comments beneath reflect what I was thinking as I viewed the video:
a) that she has a form of psoriasis;
b) that it is a pity her medical funding depends on such a drama;
c) that the story ought to be about medical funding.

Oh, none of the images in the video are as dramatic as the headline. :?:
 
Lungs again, but this time it's bad news:

Deadly Yosemite virus warning to 10,000 US campers

Thousands of people could be at risk from a deadly virus in California's Yosemite National Park that has already claimed two lives, officials say.
Four other cases of Hantavirus, a rare lung disease, have been reported.

The park said it is getting about 1,000 calls per day from frightened visitors on its Hantavirus hotline.
There is no known cure for the virus, spread by infected rodent droppings. Symptoms can take up to six weeks and one third of cases are fatal.
The virus is carried in rodent faeces, urine and saliva. When it dries out and mixes with dust, it can be inhaled by humans, especially in small, stuffy spaces.
The disease can also spread if people touch or eat contaminated substances, or are bitten by an infected animal.

The first death was reported earlier this month - one of those who died was a 37-year-old man from the San Francisco Bay area.

The outbreak of the virus at Yosemite is thought to have been caused by mice nesting in the insulation of tents at a campsite in the Curry Village area of the reserve.
About 10,000 visitors stayed at the campsite between June and August and could be at risk of contracting the virus, the Centers for Disease Control and Prevention (CDC) said.
The CDC added that they were looking into suspected cases of the disease in "multiple health jurisdictions".
They also urged doctors to report diagnosed cases of Hantavirus to state health authorities.

The park has contacted about 3,000 groups of visitors warning them to seek medical advice if they experience flu-like symptoms, including headache, fever, shortness of breath, muscle ache and cough.
Severe cases can lead to extreme breathing difficulty and death.

Earlier this week, park officials closed all 91 "signature" cabins after finding deer mice, which carry the virus, nesting between the double walls of the luxury tents.
But they added that the outbreak of the virus had not led to a wave of cancellations.
"Right now it's normal numbers for Friday," Yosemite spokeswoman Kari Cobb said.
"There have been cancellations, but it would be grossly overstated to say they're cancelling en masse. There's quite a bit of people out there still.
"It's still summer and a holiday weekend. It's still the summer crowds," she said.

Nearly four million people visit Yosemite National Park annually and about 70% of them visit Yosemite Valley, where Curry Village is located.
The park has seen two other cases of the hantavirus in a more remote area in 2000 and 2010, but this year's deaths were the first.

http://www.bbc.co.uk/news/world-us-canada-19447160
 
Some more background to the Yosemite cases.

Despite 1993 cases, hantavirus remains mostly a mystery
September 12th, 2012 in Diseases, Conditions, Syndromes

In his 30-plusyears as a doctor, Bruce Tempest had never seen anything like it. A Navajo man having trouble breathing showed up at the emergency room of a small hospital in Gallup, N.M. Less than an hour later, he was dead.

The man had been young, athletic and otherwise healthy. His fiancee had died days before, also from sudden breathing problems.

"This is something different," Tempest, now 76, remembered thinking of the 1993 illnesses. "It just doesn't fit."

Tempest contacted area doctors, looking for other cases. Then he asked the University of New Mexico for help. Soon, the patients were being flown to Albuquerque. They arrived with chills and aches but soon were in complete respiratory distress. Physicians were at a loss: Was it sepsis? Influenza? Bubonic plague?

Doctors had a medical mystery, and they knew it had to be solved quickly. Patients were showing up at the hospital "not feeling well one day and being dead the next," said Gregory Glass, an epidemiologist at Johns Hopkins University.

When the cases hit television, a lucky clue came in. A doctor called and said the illness sounded a lot like a virus he had observed in Korea in the 1950s. It was called hantavirus.

This summer's hantavirus outbreak in Yosemite National Park is as a sobering reminder: Mystery still surrounds the disease.

"The biggest mystery is we don't have a good explanation," said Barbara Knust, a U.S. Centers for Disease Control and Prevention epidemiologist. "For Yosemite, why this year of all years is there an increased number of cases?"

Nearly 20 years after being identified in the U.S., hantavirus is better understood but no less vexing. Researchers now know it causes hantavirus pulmonary syndrome, a severe respiratory disease. It is transmitted through the droppings and urine of deer mice, and not through person-to-person contact. Treated early, patients have a better chance of survival. But there is no cure, and more than one-third of patients die.

The Yosemite cases follow the pattern: Three of the eight visitors who fell ill died. Health officials have called the Yosemite outbreak unprecedented - more than one hantavirus infection from the same location in the same year is very rare.

The National Park Service has closed the cabins believed to be at the heart of the outbreak. State and federal scientists are scouring the park, trapping mice and conducting laboratory tests. Public health officials are warning doctors worldwide to watch for possible symptoms, which can be confused with the flu and can take weeks to show up.

And the California Department of Public Health said the risk of new cases remains, even as the summer surge of visitors wanes.

"These are not isolated cases in the hospitals in the mountains," said Daniel Uslan, assistant professor of infectious diseases at the University of California, Los Angeles medical school. "These are potentially people coming back to Los Angeles or other urban centers where doctors are perhaps not as aware of the infection."

Officials investigating the Yosemite cases have more to go on than a lucky tip. But just like in 1993, they are under pressure to quickly learn more about a disease that is pervasive and deadly.

As patients continued dying in the Four Corners region, doctors and epidemiologists had to accomplish three monumental tasks: pinpoint the cause of the illness, determine why only some people were getting it and track down its origin.

The CDC analyzed tissue from survivors and those who had died. Researchers tested for antibodies against viruses and hoped for a hit, said Glass, the Johns Hopkins epidemiologist. When they tried hantavirus, they got a match.

Still, they didn't know why certain people got sick and others didn't. Paul Ettestad, part of the CDC team, visited homes throughout the Four Corners and asked relatives what the victims did in the days before they got sick. He also compared the victims' homes with neighbors' homes.

Researchers also tried to find the source of the disease. Knowing that rodents carried hantavirus, they trapped hundreds of small mammals and found the virus in nearly one-third of the deer mice, according to the CDC. By year-end, scientists isolated the specific type of hantavirus that caused the Four Corners cases and grew it in a laboratory.

"From an epidemiologist's point of view, this was amazing," Glass said. "We use it as a textbook case of how to do a really good epidemiology."

The CDC started tracking every case of hantavirus pulmonary syndrome across the U.S. In 1993, 48 people became ill. From 1994 to 2011, an average of 28 people got the disease each year.

Cases are more common in the Southwest but still are rare, said Elisabeth Lawaczeck, a public health veterinarian for the state of Colorado. "You have to be in the wrong place, in the wrong time, do the wrong thing - and inhale," she said.

Scientists still don't know why certain deer mice get hantavirus or how they spread it. And even though deer mice are ubiquitous, they haven't figured out why outbreaks occur in certain areas at certain times.

The Four Corners cases were eventually linked to heavy rainfall that year, which meant more vegetation - and more food - for deer mice, causing a population boom. There were 10 times more deer mice in the Four Corners in May 1993 than a year earlier, according to the CDC.

Yosemite may provide more clues in the long-running hantavirus mystery. Public health officials and epidemiologists are compiling information about the cases, hoping they can determine the deadly combination of factors that led to the outbreak.
The construction of the cabins in Curry Village - with more insulation and less ventilation - may have contributed, said Stan Deresinksi, an infectious disease specialist at Stanford University School of Medicine. Seven of Yosemite's eight hantavirus cases originated in those cabins.

Or perhaps there was something different about this year's deer mouse population. Were there more of them? Were they clustered closer to humans? Whatever the reason, experts warn that deer mice aren't going anywhere, so hantavirus isn't either.

"The Sierras are their home, and there are 4 million visitors a year to Yosemite," Deresinksi said. "It is amazing there haven't been more cases."
(c)2012 Los Angeles Times

Distributed by MCT Information Services

"Despite 1993 cases, hantavirus remains mostly a mystery." September 12th, 2012. http://medicalxpress.com/news/2012-09-c ... stery.html
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The girl who must eat every 15 minutes to stay alive
Lizzie Velasquez weighs just four stone and has almost zero per cent body fat but she is not anorexic.
12:09PM BST 28 Jun 2010

In fact, the 21-year-old from Austin, Texas, must eat every 15 minutes to stay healthy.
Miss Velasquez has a rare condition which prevents her from gaining weight even though she eats up to 60 small meals a day.
Despite consuming between 5,000 and 8,000 calories daily, the communications student, has never tipped over 4st 3lbs. :shock:

"I weigh myself regularly and if I gain even one pound I get really excited," said 5ft 2 ins Miss Velasquez, who wears size triple zero clothes.
"I eat every 15-20 minutes to keep my energy levels up.
"I eat small portions of crisps, sweets, chocolate, pizza, chicken, cake, doughnuts, ice cream, noodles and pop tarts all day long, so I get pretty upset when people accuse me of being anorexic."

She was born four weeks prematurely weighing just 2lb 10oz. Doctors found there was minimal amniotic fluid protecting her in the womb.
"They told us they had no idea how she could have survived," said Miss Velasquez's mother Rita, 45, a church secretary.

Doctors speculated Lizzie might have the genetic disorder De Barsy syndrome but soon ruled it out as it became clear she did not have learning difficulties.

"They kept on trying to figure out what was wrong with her but we treated her like any other child," said Mrs Velasquez, who charted her daughter's health in dozens of notebooks.
She was taken to see genetic experts but they still could not diagnose her.

Miss Velasquez's case has fascinated doctors all over the world and she is part of a genetic study run by Professor Abhimanyu Garg, MD, at the University of Texas Southwestern Medical Center in Dallas.

Professor Garg and his team now believe Lizzie may have a form of Neonatal Progeroid Syndrome (NPS) which causes accelerated ageing, fat loss from the face and body, and tissue degeneration. People with PRS often have triangular and prematurely aged faces with a pointy nose.

He said: "I am aware of a small number of people that have similar conditions to Lizzie but each case is slightly different.
"We cannot predict what will happen to Lizzie in the future as the medical community are yet to document older people with NPS.
"However Lizzie is lucky to have healthy teeth, organs and bones so the outlook is good. We will continue to study her case and learn from her."

Miss Velasquez has helped to write a book about her incredible experiences.
It is due to be released in September.

http://www.telegraph.co.uk/health/healt ... alive.html
 
Sisters can’t recognise faces...even their own
ROBIN PERRIE
Published: 24th October 2012

TWO sisters with a bizarre medical condition are unable to recognise faces — even their OWN.
Donna Jones and Victoria Wardley cannot remember what their partners or kids look like — and walk past lifelong friends in the street.
They have trouble knowing themselves in the MIRROR — and don’t bother taking photos because when they look at them they’ve no idea who anyone is.

The sisters suffer from prosopagnosia, also known as face blindness, which means they can recognise objects but not faces.
Although they have had it from birth, they didn’t really notice it until teenage years.

Married Victoria, 32, revealed: “My doctor used to come into the coffee shop where I worked every day and I never recognised him. He told me to come in for a couple of tests and we found out I had prosopagnosia.”

Describing her symptoms, the dog groomer added: “When I see someone’s face it’s like tunnel vision. I can make out an eye or a nose, but when I try to look at a whole face it doesn’t work.”

Donna, 30, was diagnosed soon after. The mum of one said: “It was a relief to know that something was wrong. I’ve gone up to men in supermarkets thinking they were my partner, only to realise I’d grabbed hold of the wrong man.” :shock:

The sisters, from York, manage to recognise loved ones from their clothes or traits such as how they walk.
But Donna cannot spot daughter Rebecca, 14, when she comes out of school in the same uniform as the other children.
She said: “I even find it hard to pick out my daughter from a crowd. I feel so guilty. I should know what my child looks like, but I just find it impossible.”

The pair rarely go out just as a twosome after losing each other for hours at a time in supermarkets and nightclubs.

But office worker Donna says there is an upside.
Every time she sees partner Paul, 40, she fancies him as if it was their first encounter.
She said: “He’s really hot so it’s a nice surprise every time.”

Dr Sarah Bate, from Bournemouth University’s Centre for Face Processing Disorders, said people can develop the condition or have it brought on by trauma.
She added: “Sometimes the condition runs in families. Estimates suggest as many as two per cent of the population have a degree of face blindness, yet public awareness remains low.”

Read more: http://www.thesun.co.uk/sol/homepage/ne ... z2APh39h25
 
Fancy having trouble knowing themselves in the MIRROR.
That must be AWFUL. :lol:
 
I was aware of this problem with some medications, but it seems not enough people (including medics) know about it:

Grapefruit and pills mix warning
By James Gallagher, Health and science reporter, BBC News

Doctors have warned of a "lack of knowledge" about the dangers of mixing some medications with grapefruit.
The fruit can cause overdoses of some drugs by stopping the medicines being broken down in the intestines and the liver.

The researchers who first identified the link said the number of drugs that became dangerous with grapefruit was increasing rapidly.
They were writing in the Canadian Medical Association Journal.
The team at the Lawson Health Research Institute in Canada said the number of drugs which had serious side effects with grapefruit had gone from 17 in 2008 to 43 in 2012.

They include some drugs for a range of conditions including blood pressure, cancer and cholesterol-lowering statins and those taken to suppress the immune system after an organ transplant.

Chemicals in grapefruit, furanocoumarins, wipe out an enzyme which breaks the drugs down. It means much more of the drug escapes the digestive system than the body can handle.
Three times the levels of one blood pressure drug, felodipine, was reported after patients had a glass of grapefruit juice compared with a glass of water.

The side effects are varied depending on the drug, but include stomach bleeds, altered heart beat, kidney damage and sudden death. :shock:

Dr David Bailey, one of the researchers, told the BBC: "One tablet with a glass of grapefruit juice can be like taking five or 10 tablets with a glass of water and people say I don't believe it, but I can show you that scientifically it is sound.
"So you can unintentionally go from a therapeutic level to a toxic level just by consuming grapefruit juice."
The report said: "We contend that there remains a lack of knowledge about this interaction in the general health care community."

They added: "Unless health care professionals are aware of the possibility that the adverse event they are seeing might have an origin in the recent addition of grapefruit to the patient's diet, it is very unlikely that they will investigate it."

Other citrus fruits such as Seville oranges, often used in marmalade, and limes have the same effect. :(

Neal Patel, from the Royal Pharmaceutical Society said: "Grapefruit isn't the only food that can cause issues, for example milk can stop the absorption of some antibiotics if taken at the same time.
"Although some of these interactions may not be clinically significant, some may lead to more serious outcomes.
"Pharmacists are the best port of call for anyone concerned about how their diet may affect their medication. Information about any interactions would always be included in the patient information leaflet that comes with the medicine."

A spokesman from the Medicines and Healthcare products Regulatory Agency said: "We encourage patients and healthcare professionals to report any suspected adverse drug reactions to our Yellow Card Scheme.
"You can get more information about the scheme and report online."

http://www.bbc.co.uk/news/health-20497086
 
This issue has been known about for a long time - funny how they're only now making public announcements.
 
A lot of this has been known for years, what it does demonstrate is that very few people ever read the packet inserts or summaries of product characteristics.
 
Pioneering surgery repairs girl's spine with leg bone
By James Gallagher, Health and science reporter, BBC News

A five-year old girl has had pioneering surgery to repair a large gap in her spine using bone taken from her legs.
Before the operation, Rosie Davies, from Walsall in the West Midlands, was "basically a timebomb", her family said.
Missing bones in her spine meant her upper body weight was unsupported and her inner organs were being crushed.

The lifesaving surgery came at the cost of her lower legs, which she had always been unable to move.
Rosie was born with a very rare disorder called spinal segmental dysgenesis. Five bones which made up part of her spine were missing, leaving a 10cm gap in her backbone. Her legs were also contorted up against her belly and she had very little feeling in them.

She was slowly running out of space in her chest - and running out of time. Eventually the internal crush would have led to Rosie's organs failing, which would have killed her.
In her last scan before the operation there was evidence of her kidneys being crushed.

Rosie's legs were amputated from the knee down and a section of bone was taken to bridge the gap in her spine.
Two metal rods were then bolted to the upper spine and the hips to provide extra support.
The operation at Birmingham Children's Hospital took 13 hours.

Her dad Scott said: "Before she was basically a timebomb - we never knew how long it would take to go off, we never knew how long we actually had with her.
"Since having the op she's now had her life expectancy increased to that of a normal child."

Since the surgery there have been early signs of sensation returning to her legs, which means it may be possible for Rosie to one day walk with prosthetic legs.

Her mum Mandy said: "Rosie is such a strong character. You give her the equipment to use and she'll do it, whether it's sticks or artificial legs or her hands - she'll make a way of walking.
"All she has ever wanted to do is be like her sister. All she's wanted to do is ride her bike like her sister, run like her sister."
Rosie's parents said she now had more confidence.

An operation of this scale has never been attempted in Europe before. The only similar procedure took place 10 years ago in New Zealand.

Mr Guirish Solanki, one of the consultant neurosurgeons who operated on Rosie, said: "We are delighted with the results of this operation.
"This is only the second time in the world that a surgical team has attempted to fix the thoracic spine to the hip side bones for a condition as rare as Rosie's.

"This case was very complicated as normally children with this condition do not have a working spinal cord or nerves but Rosie did. So in carrying out this procedure we had to be extremely careful not to damage her nerves."

http://www.bbc.co.uk/news/health-20426413
 
20 December 2012 Last updated at 18:48

Brussels sprouts 'overdose' hospitalised man at Christmas, report reveals

A man from Ayrshire had to be hospitalised after eating too many Brussels sprouts last Christmas, it has emerged.
The traditional Christmas vegetable contain lots of vitamin K which promotes blood clotting.
However, this counteracted the effect of anticoagulants the man was taking because he had a mechanical heart.

Doctors at the Golden Jubilee Hospital in Clydebank eventually realised too many sprouts were to blame.
The case was reported in a festive edition of the Medical Journal of Australia.
It outlines how the man's condition stabilised after the diagnosis.

Consultant cardiologist Dr Roy Gardner said: "Patients who are taking anticoagulants are generally advised not to eat too many green leafy vegetables, as they are full of vitamin K, which antagonise the action of this vital medication."

Jill Young, chief executive of the Golden Jubilee Hospital, added: "Whilst we think this is possibly the first-ever festive admission to hospital caused by the consumption of Brussels sprouts, we were delighted that we were able to stabilise his levels."

http://www.bbc.co.uk/news/uk-scotland-g ... t-20805966
 
Doctors 'save man's life by using alcohol'

UK doctors have saved a man's life using an unconventional treatment - a shot of neat alcohol into the arteries supplying his heart.
Ronald Aldom, 77, from Portishead near Bristol, had an unusual heart rhythm called ventricular tachychardia that can be fatal if left unchecked.
Medics had tried to treat it using standard methods but with no success.
They resorted to using pure ethanol to trigger a controlled heart attack and kill off some of his heart muscle.

The procedure involved passing a catheter into a blood vessel in the groin and guiding it up towards the heart.
Once the catheter identifies which part of the heart the dangerous rhythms are coming from, the ethanol dose can be delivered.
This kills the area of the heart muscle causing the problem allowing the heart's rhythm to return to normal.

This rare treatment has only been conducted a handful of times in the UK.
Cardiologist Dr Tom Johnson, who carried out the procedure at the Bristol Heart Institute, said Mr Aldom was now "much better".
"He wasn't going to leave hospital unless something was done. There was no other option."

Mr Aldom, who is now out of hospital, said: "I think it's wonderful that the doctors tried everything to help me.
"If they hadn't have done this I wouldn't be here now."

http://www.bbc.co.uk/news/health-20836084
 
Holiday cruise left woman feeling permanently seasick
By Philippa Roxby, Health reporter, BBC News

While Michele-Marie Roberts was enjoying a two-week dream cruise to Hawaii with her husband and two sons, she had no idea that her world would be turned upside down when she stepped on to dry land.
"I walked down the gangplank and collapsed - completely blacked out. I got the flight back home and I was staggering all over the shop.
"I was slurring my speech - on one occasion I blacked out while chopping vegetables," she recalls.

The holiday ended in January 2008 but Michele-Marie still feels as if she is on that cruise ship. She's been seasick for five years.
"It's like the disorientating feeling you get after coming off a waltzer at the fair - all the time. It's horrendous."
When it is at its worst, even lying down doesn't help, she says.

Mal de Débarquement Syndrome (MdDS), as the condition is known, is extremely rare and very little is understood about why it occurs and what can cure it. Few doctors have even heard of it.

Michele-Marie, from Berkshire, was sent for an MRI scan and tested for multiple sclerosis and a range of other disorders before she was finally diagnosed six months after her cruise, thanks to doctors at the Royal Berkshire Hospital who recognised her symptoms.
But not all sufferers are quite as lucky - many can spend years looking for a diagnosis.

Unsurprisingly, feeling sick and in motion every minute of her waking life has taken its toll. She says it ruined her marriage because she could no longer look after or home-school her two sons, who are autistic, leaving her husband to take on the role of full-time carer.

After the divorce, at the age of 49, she had to look for a job for the first time in years, despite feeling physically and mentally drained by the persistent seasickness.
She was employed for a while but the experience was too draining so she decided to set up her own business - a dating agency called Wavelength for single parents of special needs children.

"I have days when I feel sorry for myself and there are days when I wake up and I wonder if it's gone away. But then it says, 'da-da - here I am'."
There are times when the syndrome can feel particularly debilitating, such as when she feels stressed, when shopping in supermarkets and using a computer.
Strip lighting can also aggravate the feelings of rocking and swaying.

Thankfully there are activities that alleviate the symptoms too, she says, including vigorous exercise, swimming and driving. She does at least two hours of exercise every day to help her cope.
"The more motion I am in the better," she explains.
"So I love Zumba, but when I stop it looks like I've consumed all the sherry in the trifle."

But she will never go back on a boat, despite loving the sea, because of the risk that her condition could get even worse.

Michele-Marie believes that she was susceptible to Mal de Débarquement syndrome because she was a women in her 40s who suffered from migraines - something suggested by a research paper from 2009, although the link is not straightforward.
She wants other women to be aware of her story so they can decide if they could be at risk too.

The same study found that MdDS was a disorder of brain plasticity, which means that the neural pathways in the brain are unable to change in response to changes in behaviour or environment.

In particularly rough seas during the cruise, Michele-Marie says that everyone was falling over and suffering from seasickness apart from her. Yet on dry land, she is the one slurring her words and being mistaken for being drunk.

"You think you're going bonkers when you have MdDs. You feel so isolated. The doctors did tests on me and there's very little they can do," she explains.
"I feel I was predisposed to it - and other women should know about it."

http://www.bbc.co.uk/news/health-21786689

(Side bars on page)
I've never heard of this syndrome before. But it is common, to a lesser degree, when coming ashore after days at sea, to feel as if the earth is moving. I've experienced it myself, several times. But it normally wears off in a few hours.
 
Man with 'Walking Corpse Syndrome' believes he is dead
A patient has written a disturbing account of life with a condition which makes him think he is dead - and how he spent his days in graveyards as it was "the closest I could get to death".
By Ben Bryant, and agencies
10:16PM BST 26 May 2013

The British man, identified only as Graham, woke up nine years ago utterly convinced that he was no longer alive even though he was still breathing.
Doctors diagnosed him with Cotard’s Syndrome, which is also known as ‘Walking Corpse Syndrome’ because it makes people think they have turned into zombies.
Graham did not believe them, however, and insisted that his brain was dead.

The unusual condition emerged after Graham, who suffered from severe depression, tried to commit suicide by taking an electrical appliance with him into the bath.
Eight months later he told doctors that his brain had died or was, at best, missing.
He lost interest in smoking, stopped speaking and refused to eat as there was "no point because I was dead".
Only through months of therapy and treatment was he able to overcome the condition and live anything approaching a normal life.

Cotard’s Syndrome is among the most rare diseases in the world and it is thought that it affects just few hundred people at any one time.
It is linked to depression and comes in a variety of forms including some who feel that their limbs are no longer functioning.

Writing in New Scientist magazine, Graham describes how baffled doctors referred him to neurologists Adam Zeman at the University of Exeter and Steven Laureys at the University of Liège in Belgium.

At the time Graham was being looked after by his family because his illness had gotten so bad.
He said: “I didn't want to face people. There was no point.
"I didn't feel pleasure in anything. I used to idolise my car, but I didn't go near it. All the things I was interested in went away.
"I lost my sense of smell and my sense of taste. There was no point in eating because I was dead. It was a waste of time speaking as I never had anything to say.”

The nadir was when he felt compelled to go to his local cemetery as he thought he would fit in.
He said: "I just felt I might as well stay there. It was the closest I could get to death. The police would come and get me, though, and take me back home."

Graham’s recovery started with scans which found that levels of activity in parts of his brain were so low they were more consistent with somebody in a vegetative state.
Mr Laureys said: ‘"I've been analysing (brain) scans for 15 years and I've never seen anyone who was on his feet, who was interacting with people, with such an abnormal scan result.
"Graham's brain function resembles that of someone during anaesthesia or sleep.”

After his own regime of therapy and drugs, Graham is on the road to recovery.
He said that he is not really back to normal but can go out of the house on his own and “feels a lot better” than he was.
He said: "I don't feel that brain-dead any more. Things just feel a bit bizarre sometimes.
"I'm not afraid of death. But that's not to do with what happened – we're all going to die sometime. I'm just lucky to be alive now."

http://www.telegraph.co.uk/health/healt ... -dead.html
 
Gene mutation means paracyclist has no fat under skin
By Philippa Roxby, Health reporter, BBC News

Baffled doctors are nothing new to 23-year-old budding Paralympic cyclist Tom Staniford, from Exeter.
He has an extremely rare condition that means he is unable to store fat under his skin.

Although he was born a normal weight, he lost all the fat around his face and limbs during his childhood, and yet his body still thinks he is obese, meaning he has type 2 diabetes. His hearing also deteriorated when he was 10 and he has worn hearing aids since.

Staniford's condition had never been identified - until recently, when a research team set about mapping and analysing his DNA to pinpoint the precise gene mutation responsible.
Finally, Staniford has discovered he is one of just eight people in the world with MDP syndrome.

But he says the diagnosis will have little impact on his daily life because he has worked out a routine that allows him to control his diabetes, study for a degree in law and French, and race his bike while staying healthy.
"But it is reassuring to know that there are other people with the condition and that we can lead relatively normal lives," he says.

However, Staniford's cycling abilities are anything but normal. He was the British national paracycling circuit race champion in 2011 and his ambition is to become Paralympic champion at Rio 2016.
Training at high intensity to fulfil that ambition while coping with his condition has not been easy, he says.

"I have just 40% of the muscles of an average male. I struggle to metabolise sugar and carbohydrates efficiently due to the diabetes - and I struggle to recover due to lack of immediate fuel sources, low testosterone etc.
"My muscles have a very narrow margin of efficiency and they're also tight, stiff and inflexible because I don't have fat to perform that role.
"This is why I have to constantly experiment and attempt to find, through trial and error, what works."

When scientists at the University of Exeter got involved, they used the most recent genome sequencing technology to find out what genetic change had occurred in Staniford.
This was only possible after a second person with the same condition was found.

Prof Andrew Hattersley, senior investigator on the study - published in Nature Genetics - at the medical school at Exeter, says this meant they could compare the genomes of the two patients and their families, who were not affected by the disorder.
He says: "We had to look at thirty million base pairs in Tom's DNA, and similar numbers in his family members and the other patient's, to identify the single mutation.

"Identifying the gene responsible has implications both for predicting the long-term impact of the condition on Tom's health and - equally importantly to him - on his sporting career."

The research team, which included scientists from the University of Cambridge, and from India, Italy and the US, found an abnormality in the POLD1 gene on chromosome 19. They found that a single amino acid was missing from an enzyme that is crucial to DNA replication.
"All Tom's features can be explained by this one specific change," says Prof Hattersley.
"And now we have a diagnostic test for it."

He thinks the genetic mutation would have occurred in the sperm of the athlete's father or very early in Staniford's life.
Armed with this knowledge, he hopes to identify therapies that could help people with this syndrome and find out more about how the body works when it lacks fat in crucial places.

Staniford, however, remains very realistic about how gene therapy could help him.
He finds he can manage his diabetes very effectively using a combination of training, diet and experience.
"Spending so much time on the bike, I essentially use my cycling to self-medicate for diabetes. I find that by eating certain foods and doing certain cycling sessions it gives me much more stable insulin control."

One immediate advantage of the diagnosis is that Staniford will be more accurately classified in paracycling competitions.
"In the past, due to so little being known of my own condition and its effects on my functional cycling ability, I have always been placed in a 'harder' class than perhaps my disability should warrant." he explains.

Staniford is not about to dwell on the rarity of his condition or use it as a reason for reassessing his future cycling ambitions, even though there are very few diabetic athletes around.

"Don't we all possess certain characteristics or groupings of 'symptoms' which only a few others share?
"The only real difference is that my symptoms may be slightly off the beaten track, or unusual in their severity.
"I'm unique - just like everybody else on the planet."

http://www.bbc.co.uk/news/health-22903537

Hmm.. Some people are more unique than others! ;)
 
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