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rynner2Offline
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PostPosted: 05-10-2013 12:43    Post subject: Reply with quote

Maisie Harris to leave Great Ormond Street for first time

A two-year-old girl born with a condition which means her brain forgets to tell her to breathe is about to leave hospital for the first time.
Maisie Harris from Gillingham, Kent has been at Great Ormond Street Hospital in London since being transferred from Medway Maritime at three months old.
She has congenital central hypoventilation syndrome (CCHS), also known as Ondine's Curse.

A new, portable ventilator has enabled Maisie to go home.
The machine knows when she is able to take her own breaths and when she is likely to have a CCHS episode and require support.
It has batteries and a carry case, so Maisie, who is three on 23 October, will be able to go on outings with her family and go to school when she is older.

Staff on Great Ormond Street's Miffy Ward held a party for her on Friday, before she leaves hospital on Monday.
"We cannot wait to bring Maisie home and enjoy being a normal family," said her mother Rachel Bridger, 23.
"It's felt as though we have been in hospital for a lifetime.
"Everyone here has become like a second family to us - they know Maisie inside out.
"She knows her own mind but she is a really happy little girl - she's hardly ever upset.
"I don't think it will take her long to get used to playing with her toys at home and sleeping in her own bed for the first time."

Maisie, who featured in BBC2's Great Ormond Street series last year, also has malacia of the airways, so her airways are floppy like the top of a balloon and do not hold their shape properly.

Consultant Colin Wallis said: "We have been working on ways to allow a greater number of long-term ventilated children to go home.
"The family home is the best place for a young child to grow and develop, and Maisie will now be able to go out and about with her family, make new friends and experience everything the outside world has to offer."

Dr Wallis treated Ms Bridger when she was younger. She also has CCHS, although her condition is less complex.
She and Maisie's father Andrew Harris, 26, have been trained on how to use her ventilator and will be supported by a team of local carers.

http://www.bbc.co.uk/news/uk-england-24400785
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EnolaGaiaOffline
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PostPosted: 05-10-2013 14:59    Post subject: Reply with quote

I found the alternative / popular label "Ondine's Curse" intriguing. Here's Wiktionary's explanation for its origin:

Quote:

According to French and German mythology, the nymph Ondine / Undine discovered that her husband had committed adultery. Because he had promised his every waking breath to her, she cursed him that so long as he was awake he could breathe, but if he ever fell asleep he would stop breathing and die.
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Anome_Offline
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PostPosted: 05-10-2013 23:16    Post subject: Reply with quote

This is interesting, as I've long suspected (remember: not a doctor) something similar as the cause of many SIDS (and possibly SADS) deaths.

I'm sure someone's looked into this possibility, and it would be interesting to see any actual research on it. Might go trolling through ScienceDirect later.
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JamesWhiteheadOffline
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PostPosted: 24-10-2013 10:40    Post subject: Reply with quote

Why was Welsh village among first to use Ether?

Those slate quarries had a poor reputation for Health & Safety so I expect there were frequent calls for amputations. The mystery is who sent the ether from the USA.

Rev. Aelwyn Roberts, retired vicar of Llandegai, is sometimes called the Welsh Ghostbuster. He has also written the seminal work on Privies of Wales.

"I am a vain person. I have always wanted to be the author of a classic. The book was written and very well received." said Rev. Roberts. Smile
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sherbetbizarreOffline
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PostPosted: 25-10-2013 00:17    Post subject: Reply with quote

Quote:
Reversing walking corpse syndrome: Cotard's Syndrome trigger found - and it's a household cold sore cream

Drug commonly used to treat herpes virus used by those with renal failure has been linked to syndrome that leads people to believe they are dead

Pharmacologists have discovered one of the mechanisms that triggers Cotard's syndrome, a condition causing people to feel as if they have died, or parts of their bodies are dead or no longer exist.

People in the grip of a Cotard's delusion can also believe they have 'lost' their blood and internal organs, such as their brain, and cannot respond to any rational reasoning with them that they are in fact alive.

Acyclovir, also known as Zovirax, is a drug commonly used to treat cold sores and the herpes virus, as well as chicken pox and shingles.

Just one per cent of people who use the drug will experience some psychiatric effects, including Cotard's.

A link between renal failure, using the drug and Cotard’s has now been highlighted by pharmacologists pooling data from hospital admission records and Swedish drug databases.

In a study published in Journal of the Neurological Sciences, Swedish pharmacologists identified eight people with acyclovir-induced Cotard's from data collected.

The link was made after a woman suffering from shingles began showing symptoms of Cotard delusions after using acyclovir as a treatment, New Scientist have reported.

The woman ran into a hospital in an extremely anxious state, author of the research Anders Helldén from the Karolinska University Hospital in Stockholm said. After receiving dialysis, the woman explained that she had felt anxious because she had been overwhelmed by a strong feeling that she was dead.

Within a few hours her symptoms began to ease, until she felt that she was “pretty sure” she wasn't dead, but remained adamant her left arm did not belong to her. After 24 hours, her symptoms had disappeared.

Blood analysis later revealed that acyclovir, which can normally be broken down in the body before being flushed out by the kidneys, can leave low levels of breakdown product CMMG in the body.

Blood tests of those who had Cotard's symptoms showed much higher levels of CMMG. All but one of those tested also had renal failure.

Helldén and co-author of the study Thomas Lindén, of the Sahlgrenska Academy in Gothenburg, found that lowering the dose of the drug or removing it all together appeared to stop the symptoms.

“Several of the patients developed very high blood pressure,” Helldén said, “so we have a feeling that CMMG is causing some kind of constriction of the arteries in the brain.”

Helldén believes that this discovery provides a theory of how to effectively turn Cotard’s on and off, although further research is needed.

The Independant
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kamalktkOffline
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PostPosted: 30-10-2013 16:41    Post subject: Reply with quote

kamalktk wrote:
20 years old, with the body and brain of a 9 month old.
"She has been examined by some of the most prestigious medical institutions in the U.S., however no formal diagnosis for Brooke’s condition has been given, leading doctors to term her condition Syndrome X."
http://www.dailymail.co.uk/femail/article-2260378/She-just-stopped-growing-Meet-20-year-old-woman-trapped-inside-toddlers-body--doctors-baffled.html?ITO=1490&ns_mchannel=rss&ns_campaign=1490

Update on this one, she has died. http://abcnews.go.com/Health/maryland-20-year-dies-aged/story?id=20712718&singlePage=true
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rynner2Offline
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PostPosted: 25-11-2013 14:17    Post subject: Reply with quote

Man dreads winter as single snowflake could kill him
Shop worker is allergic to the cold and his reactions are so bad he can even go into a life-threatening anaphylactic shock
By News agencies
9:18AM GMT 25 Nov 2013

A shop worker is dreading winter because an allergy to the cold means that even a single snowflake could kill him.
Bernard Ward's skin explodes into angry hives if he comes into contact with anything cold – from a snowflake to a cold pint of beer. Shocked
And the reactions can be so bad that he can even go into a life-threatening anaphylactic shock.

Medics believe that Mr Ward developed the condition after standing at a bus stop in temperatures of -10 in Scotland, in 2012.
He now has to wrap up warm even indoors – and does not dare venture outside in particularly cold weather.
Even the gym is out of bounds because the air con could trigger a deadly reaction.

Mr Ward, from Derry, Northern Ireland, said:"I dread winter coming – I know most people don't like the cold but it could be deadly for me.
"It costs me a fortune in heating bills and thick clothes, but I have no other choice.
"Since I developed the allergy, it's totally changed my life. A simple night out with my mates down the pub is out of the question."

Bernard first noticed some aggravation to the cold while commuting to Belfast in winter 2011, but wasn't diagnosed with Cold Urticaria for four months.
He said: "Every time I was waiting for the bus my hands began to itch really badly, and burn as if I had put them in a pile of nettles.
"I thought nothing of it and got on with things and hoped it would go away.

"My GP said it was probably a reaction to washing powder, or something I'd eaten, but in February 2012, I was on a three-week course in Scotland.
"On my first evening there, it was about -10, and I was waiting on a bus to take me back to the hotel and I wasn't wearing any gloves and I was carrying bags.
"After a few minutes my fingers and hands began to swell up so badly I couldn't bend them.

"My face also was burning and itching and I was wheezing. I got to the hotel room, after changing out of my clothes into something warmer, I noticed my thighs had swollen and were covered in huge welts too."
It was only then that doctors diagnosed him with a severe allergy to the cold.

Bernard added: "At the time, I worked in a busy retail store, the air conditioning was on for about an hour and I just didn't feel well and couldn't work out why.
"I remember feeling like I was going to faint and I was having the most uncomfortable heart palpitations.
"I went out the back to sit down for a bit and noticed my hands were covered in hives.
"I wrapped up took antihistamines and went home. After this I was referred to a specialist."

It was confirmed by a hospital specialist that Bernard was suffering from Cold Urticaria a type of allergy that causes the body to react badly to not only touching anything cold but also sudden drops in temperature.
He said: "Initially it got me very down and anxious. I could not understand what was happening to me and I kept thinking that it would go away soon.
"I gradually stopped doing everyday things like going to the gym as the air conditioning affected me.
"I could no longer play football as playing outdoors gave me bad reactions and socialising became a nightmare.
"Having cold drinks made my throat swell and even holding a pint of cold beer on a night out made my hand swell up.
"I have to wear ridiculous amounts of clothes in the winter.
"Financially this can be tough too with transport costs, clothing costs and fuel bills."

Although the condition has had a massive impact on his life and those closest to him, Bernard says he has amazing support from his family including his fiancé Mairead who he hopes to marry next year.
"My fiancé has been great. She adapted really well to my condition and gives me support every day.
"At first things were tough and they still are as we can no longer do outdoor things like going for a walk.

"Going out at night is not an easy task either as we have to plan in advance and have taxi pick us up then leave early as to not be standing in a taxi queue at night.
"It took people a while to realise the extent of it and people do still forget themselves sometimes and ask me to do things which I just can't do anymore."

At present there is no known cure for Cold Urticaria but it can be managed through the use of antihistamines and keeping as warm as possible.

http://www.telegraph.co.uk/health/10472160/Man-dreads-winter-as-single-snowflake-could-kill-him.html
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rynner2Offline
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PostPosted: 17-12-2013 09:51    Post subject: Reply with quote

Shades of Frankenstein!

Severed hand kept alive on man's ankle

Chinese doctors have saved a man's severed hand by grafting it to his ankle, it is reported.
Xiao Wei lost his right hand in an accident at work but could not have it reattached to his arm right away.
Instead, the hand was kept alive by stitching it to Mr Wei's left ankle and "borrowing" a blood supply from arteries in the leg.

A month later, surgeons were able to remove the hand and replant it back on his arm, according to Rex Features.
According to the report, Mr Wei's doctors from the Changsha region say he will need to undergo several other operations but they are hopeful that he will regain full function of his hand.
"His injury was severe. Besides ripping injuries, his arm was also flattened.
"We had to clear and treat his injuries before taking on the hand reattachment surgery."

Mr Cairian Healy of the Royal College of Surgeons in England said although procedures such as these were rare, they were not inconceivable.
"The Chinese are pretty experienced in microsurgery," he said.
"And the concept of saving a severed part of the body by attaching it to another part of the body to give it a blood supply is well recognised.
"The ankle is a hard place to graft though. Usually surgeons would go for the armpit because the blood supply is better."

He said there were many reasons why a surgeon might not want or be able to reattach a hand to its rightful home straightaway.
"The patient might not be fit enough for the surgery. It can take a skilled surgeon between eight and 15 hours to reattach a hand."

The vital factor is keeping the hand alive.
On ice, it may survive slightly longer, but Mr Healy said few surgeons would contemplate replanting a hand that had been detached for more than a few hours because the muscle inside it would be dead.
He said that, sadly, not all replantations are a success. Some patients do not like the end result and may later opt for amputation because of side-effects, such as pain and stiffness.

http://www.bbc.co.uk/news/health-25405543
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kamalktkOffline
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PostPosted: 08-01-2014 13:18    Post subject: Reply with quote

Woman Can Write But Can't Read

http://gizmodo.com/internet-commenter-syndrome-the-woman-who-can-write-bu-1496461544

One fateful Thursday morning, a kindergarten teacher and reading specialist—known only as M.P. for the sake of anonymity—found that the same attendance sheet she'd been using for years suddenly appeared to be covered in hieroglyphs. Not only that, she quickly realized that everything she logically knew to be covered in writing was entirely incomprehensible to her. Though she wouldn't find out til later, M.P. has been the victim of a stroke that left her with an incredibly rare neurological disorder—one more commonly known as "word blindness."

Of course, problems reading may have been the first symptom, but it wasn't the only thing she was having trouble with. In a case study published today in the journal Neurology, M.P.'s doctors describe how, over the next few days, her thinking had slowed and she was having trouble finding the correct words. After checking herself into the emergency room, M.P. was officially diagnosed with alexia without agraphia; in other words, she'd lost the ability to read but could still write and understand language with total clarity.

It seems that the stroke had created a disconnect between her brain's "language zone" and her visual cortex. So though visual inputs to her language zone were disrupted, other sensory inputs (auditory, for example) remained fully intact, explaining why she could still write and understand spoken English. And M.P. made incredible use of the fact that her other senses in relation to language were still in tact. The case study explains:

But where conventional wisdom had failed her, innovation did not, and M.P. soon discovered that her other senses might prove beneficial. Her discovery was this: when shown a word, M.P. could decipher it letter-by-letter with the help of tactile cues such as letter tracing. "She sort of picked up this tactile approach—truthfully—herself," her mother says with pride. "She's the one who reinvented the wheel!"

To see this curious adaptation in practice is to witness the very unique and focal nature of her deficit. Given a word, M.P. will direct her attention to the first letter, which she is unable to recognize. She will then place her finger on the letter and begin to trace each letter of the alphabet over it in order until she recognizes that she has traced the letter she is looking at. "That is the letter M," she declares, after tracing the previous 12 letters of the alphabet with her finger while deciphering a word in front of her. Three letters later, she is able to shorten this exercise with a guess: "This word is 'mother,'" she announces proudly.

Of course, none of this is quite the same as traditional reading, and it's still heartbreaking that M.P. can no longer enjoy the activity she'd loved so much as to turn it into a career. She's certainly making the most of a bad situation though—she's currently raising money for stroke research and is even in the process of writing a memoir about her experience. And at the very least, M.P. can always take comfort in knowing that there's an entire army of people out there raising awareness for "word blindness." Every internet comments section, for example.
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kamalktkOffline
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PostPosted: 01-03-2014 14:09    Post subject: Reply with quote

Pic of the brain surgery in there, so be warned if such things make you uneasy.

"A 4-month-old infant in Maryland may be the first person to have had teeth form in his brain as a result of a specific type of rare brain tumor, according to a new report of the case."

http://www.huffingtonpost.com/2014/02/27/baby-brain-tumor-teeth_n_4866624.html?utm_hp_ref=mostpopular
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PostPosted: 01-03-2014 15:10    Post subject: Reply with quote

Didn't that happen in a Stephen King book?
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gncxxOffline
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PostPosted: 01-03-2014 22:12    Post subject: Reply with quote

Yes, The Dark Half. Let's hope the kid doesn't decide to be an author of pulp thrillers.
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rynner2Offline
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PostPosted: 30-05-2014 07:44    Post subject: Reply with quote

Who, What, Why: How common is skin pigment condition vitiligo?
Who, What, Why
The Magazine answers the questions behind the news

One of the aspirant catwalk stars on America's Next Top Model has the skin disorder vitiligo. How common is the condition?

Chantelle Young, 19, is one of 14 contestants on the forthcoming series of the modelling talent show presented by Tyra Banks. She is the first in the show's history to suffer from the clearly visible skin condition - vitiligo leaves patches of skin with no pigment.
"I have something that's very profound about the way that I look. A lot of people have a story and a background but mine is painted on my body," she said.

But how common is the condition? "A conservative estimate is 1% of the population, regardless of race," says the Vitiligo Society in the UK. "That figure has been around for the past 25 years.

But the society says that many dermatologists now think a figure of 2% may be closer - with more diagnoses as the condition is more widely publicised. A considerable amount of publicity came from knowledge of Michael Jackson having the condition.

"In some cases the psychological consequences can be quite horrendous," says a spokesman for the Vitiligo Society. "Some people are able to cope with it, others just can't."

Dermatologist Dr Shari Lipner, of New York-Presbyterian Hospital and Weill Cornell Medical Center, agrees with the figure of 1%. Under-reporting of the condition is a factor, she says, because patients are embarrassed to come forward. "It may be more common than we think."

The condition is obviously much more noticeable in darker-skinned people, says Lipner, and, particularly if the depigmentation is on the face or hands, the psychological suffering can be worse.

The condition is not curable but can be treated, says Lipner. Steroid skin creams are one of the most common options. Other treatments include light therapy or use of an excimer laser, a form of ultraviolet laser. Another cream containing calcineurin inhibitors is also used. "You can get some of the pigmentation back in some patients," says Lipner, "but not in all patients." Camouflage cosmetics are often used to cover up the affected patches.

The cause of the condition is not known, says Lipner, although some suspect it is an autoimmune disorder - that the immune system attacks pigmentation cells for an as yet unknown reason.

The depigmentation on Chantelle Young's face is almost entirely symmetrical. Despite the striking effect, this is not unusual, "There are different types, but it commonly is symmetrical," says Lipner.

http://www.bbc.co.uk/news/blogs-magazine-monitor-27628870
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rynner2Offline
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PostPosted: 24-06-2014 09:33    Post subject: Reply with quote

Tia McCarthy: 'My feeding tube was my lifeline - Now I eat scallops and venison'
9:56am Tuesday 24th June 2014
By Tara Russell, Feature Writer

LIKE any other teenager just home from school, Tia McCarthy shouts to her brother, Finley, to bring her a homemade jam tart from the kitchen.
It may be a familiar scene played out in family homes across the county, but mum, Sue, looks like she couldn’t get any happier than this moment.

But Tia isn’t like most 15-year-olds.
For the first decade of her life, no food or drink passed through the schoolgirl’s lips because she refused to eat or drink anything in a rare case that baffled the medical world.
Instead she was fed through a tube in her stomach.

But now the teen remarkably eats everything – and she has expensive taste – her favourite food is salmon, seabass, venison and scallops. Cool
She even rates the family meals out of ten just like on TV show, Come Dine with Me.
Mum Sue, said: “She’ll practically eat anything now. It is just amazing.
“It took so much longer than I thought, but I think as she has got older, she has become more able to understand the fact that she has to eat in order to survive and so she really tries.”

Born 12 weeks prematurely weighing just 2lb and 3oz with a rare congenital disorder, oesophageal atresia, affecting just one in 40,000 children, Tia spent most of her first year in hospital.
Tia’s oesophagus and stomach were unconnected so doctors had to perform a miracle operation moving her stomach into her chest.

Though Tia does suffer from multiple disabilities including perception disorder and autistic tendencies, there was no medical reason why Tia couldn’t eat food after the surgery and the condition baffled everyone across the world.

It meant mum Sue had to plug Tia into a machine every night to pump liquid food through a tube directly into her digestive system.
Sue explains: “The tube became part of Tia. That was the only way we could get food into her.”

Driven to despair that her daughter had never eaten a morsel, mum Sue, 49, took her to pioneering medics at a specialist clinic in Austria.
There, she was starved for three weeks in a bid to cure her but though she began drinking, the then seven-year-old still refused to eat.
“It just didn’t work for her at all. She doesn’t feel the hunger thing so it made no difference she was just getting thinner and thinner.”

But five years ago aged ten and while on a trip to Spain, Tia suddenly started to show an interest in trying food. Sue gave her yoghurt and remarkably she accepted it.

Gradually bit by bit she begun eating smooth food like mousse, ice cream, soup, custard and semolina, but was still kept on her drip at night which pumped nutrients into her stomach.

But she suddenly started becoming more interested in food and she began trying different solid foods.

etc...

http://www.dailyecho.co.uk/news/11296265.I_didn_t_eat_anything_for_a_decade/?ref=nt
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PostPosted: 01-07-2014 22:00    Post subject: Reply with quote

I'm posting this under the heading "medical mysteries" because it's a mystery to me, but perhaps it won't be to others. I'll defer to the mods if they wish to move this post elsewhere.

In April 1991, I spent several days in hospital following an emergency appendectomy. During my stay, I discovered that the patient in the next bed had undergone the same operation just 24 hours ahead of me. I mentioned this coincidence to one of the nurses on the ward. She said she had worked on that ward for several years and had noticed a pattern with emergency appendectomies. These cases tended to appear in clusters: a handful of patients would turn up within the span of a few days and then there would be no cases for several months. Then, once again, several cases would arrive over a few days' time only to be followed by another drought of several months' duration. The nurse could offer no explanation for this pattern.

A few months later, I went to see my then GP for my annual check-up and I mentioned this pattern to her. She said she had noticed similar patterns with other health problems. She had observed that fatal heart attacks often tended to occur during the spring (this was to be the case with my own mother several years later), and that patients with gallbladder complaints often appeared in her office within a few days of each other. Like the nurse, she could not explain this pattern.

It seems odd (at least to me) that non-communicable diseases should appear in clusters. Perhaps there's nothing Fortean about this phenomenon and it's all coincidental. If it isn't, I would be curious to know the reason for it.

Any thoughts?
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