Monday 3 November 2014

genetic risks for autism ?

Study points to new genetic risks for autism

DNA sequenceThe study linked 33 genes to autism.

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A massive international study has started to unpick the "fine details" of why some people develop autism, researchers have said.
They looked at thousands of DNA samples from children with autism and their parents.
The results, in the journal Nature, linked 33 genes to the condition with many involved in brain development.
The National Autistic Society said we were still "a long way" from knowing the cause of autism.
The study suggested a number of different risk factors for the condition, according to the lead author of the paper Prof Joseph Buxbaum, from Icahn School of Medicine at Mount Sinai New York.
"The smoking gun is genetics - but there are quite a lot of different bullets in the gun," said Prof Buxbaum.
DNA analysis
Autism is a life-long disorder that affects people's ability to socialise, and those on the autism spectrum can find it difficult to interact with other people.
The researchers assessed 15,480 DNA samples to determine the impact of mutations to the DNA that are passed from parent to child as well as those that spring up spontaneously.
The study expanded the number of genes linked to autism up to 33.
Seven genes were completely new while 11 had not been classed as true risk genes due to lack of data. Fifteen of the genes were already known to be risky.
It also indicated that small, rare genetic mutations in 107 genes can contribute to the risk of autism.
More than 5% of the autistic people in the study had these non-inherited loss-of-function gene mutations.
'Finer detail'
The study should help to improve understanding of some of the causes of autism, said Prof David Skuse, head of the social communication disorders team at Great Ormond Street Hospital in London, and a contributor to the report.
"Up until now we've really not been able to understand the mechanisms that lead to autism," he said. "This [study] is getting down to much finer detail."
Prof Skuse added that the study could start to help families understand autism.
The National Autistic Society (NAS) said there were many gaps in autism knowledge.
Carol Povey, director of the NAS Centre for Autism, said: "Autism is a highly complex story of genes not only interacting with other genes, but with non-genetic factors too.
"Research like this helps us to understand the genetics involved in certain forms of autism and opens up the possibility of whole families gaining a better understanding of a condition they may share," she said.
"However, we are still a long way from knowing what causes autism. What people with the condition, their families and carers need most of all, is access now to the right kind of support to be able to lead full lives," she added.

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the Ebola crisis

Ebola appeal poster
A public appeal to help people affected by the Ebola crisis in West Africa has received £4 million in donations in its first two days, organisers have said.
The Disasters Emergency Committee (DEC) said it had been "overwhelmed" by the "extraordinary generosity" of the UK public since the appeal was launched.
The UK government is to match the first £5 million of donations made.
Ebola has killed almost 5,000 people and infected more than 13,000 in West Africa since the start of the year.
On Friday, the World Health Organisation said 4,951 people had died during the current outbreak, with 13,567 reported cases up to 29 October.
Protective clothing
Donations have been made after appeals were aired by the main UK broadcasters on Thursday.
It is the first time the DEC has sought funds in response to a disease outbreak.
"We are extremely grateful to the UK government for the aid match funding which is a significant boost to the appeal," chief executive of DEC Saleh Saeed said.
Donations help pay for nurses and doctors on the ground, says Save the Children's Justin Forsyth
"The UK government will match a further £1 million raised, so we encourage the UK public to donate as soon as possible to double the amount of their donation.
"Our member agencies have already achieved so much - providing protective clothing, educating communities and supporting safe and dignified burials - but there is so much more to do."
Agencies have been increasing their aid efforts in West Africa, where they have already helped more than 2.5 million people affected by the Ebola crisis, a DEC spokesman said.
They included people in some in the worst-affected and most remote areas of Sierra Leone and Liberia, the spokesman added.
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Deaths from Ebola
Graph of death tolls from Ebola since April showing Liberia and Sierra Leone as the worst affected countries
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Justin Forsyth, chief executive of the charity Save the Children, said donations would make "a massive difference" by helping to pay for nurses and doctors on the ground.
Speaking to the BBC from Sierra Leone, he said officials needed additional staff and equipment and called on more governments around the world to offer financial support.
"It is getting worse, not better, on the ground here; we are not yet ahead of the curve, we are in a race against time and we need to urgently act on the ground - and money if very, very important," he said.
It comes after Canada announced it was to suspend visa applications from residents and passport-holders from West African countries affected by the Ebola outbreak.
The decision follows a similar decision by Australia, which drew criticism from the World Health Organization (WHO).
The ban would apply to countries with "widespread and persistent-intense transmission", Canada said.
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Other Disasters Emergency Committee (DEC) appeals:
  • A total of £71m was raised by the Pakistan Floods Appeal which affected more than 18 million people. The floods swept across the country in July and August of 2010
  • The UK public donated £95m for the Philippines Typhoon Appeal which has to date helped more than 900,000 people. The appeal was launched in November 2013
  • The Syria Crisis Appeal opened in March 2013 and has raised about £25m
  • An appeal for people affected by the fighting in Gaza was launched in January 2009 and raised £8.3m
  • A total of £107m was raised for people adversely affected by the earthquake in Haiti

Tuesday 14 October 2014

Thousands of health workers, including nurses, midwives and ambulance staff, have taken part in the first strike over pay


Picket line at Royal Berkshire HospitalThe strikes were the first by NHS staff over pay in more than 30 years

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for more than 30 years.
But disruption was minimised after unions agreed staff would make sure emergency care was covered.
Workers from seven trade unions took part from 07:00 to 11:00 BST in England, while two unions were involved in Northern Ireland.
The strike is being followed by four-days of work-to-rule from Tuesday.
This is expected to involve staff refusing to do overtime without extra pay and insisting on taking their breaks.
The full picture has yet to emerge about how much disruption was caused by Monday's walkout - although no major incidents have been reported.
In advance, unions and managers had met to ensure essential services were maintained.
Military personnel and police were also on hand to help ambulance services where needed.
As the walkouts progressed, reports emerged of ambulance services developing backlogs - but bosses said life-threatening cases were prioritised.

The striking unions

NameStaff groupsNumber of members
Unison
Nurses, healthcare assistants, ambulance staff and porters
250,000 in England
GMB
Nurses, healthcare assistants, ambulance staff, porters, admin workers and cleaners
22,000 in England and Northern Ireland
Unite
Nurses, healthcare assistants, ambulance staff, porters and admin
92,000 in England and Northern Ireland
Royal College of Midwives
Midwives
22,000 in England
UCATT
Maintenance staff
480 in England
British Association of Occupational Therapists
Occupational therapists
24,000 in England
Managers in Partnership (part of Unison)
Mostly middle-grade managers
4,000 in England
Meanwhile, hospital staff were seen leaving the picket lines to deal with patients in some places.
Union leaders had always said their members will be providing "life and limb" cover during the strike.
The expectation was that 999 calls would be answered and A&E units would remain open and that seems to have been the case, according to reports.
Striking NHS staff at Royal Liverpool HospitalThe picket line at Royal Liverpool Hospital was one of many across the country
A member of military driving a London ambulanceThe military was drafted in to help ambulance services
Picket lineUnison has the largest number of NHS members of the unions involved
However, hospital outpatient appointments, community clinics and some routine operations seem to have been affected.
The Royal College of Midwives, which is taking action for the first time in its history, said in advance services for women giving birth were going to be unaffected. Instead, its members targeted antenatal and postnatal care.
Doctors and dentists were not involved. NHS sources said about 5% of staff who were expected in work did not turn up, although unions had always maintained the numbers not working would not reflect the strength of support across the workforce.
Rehana Azam, national officer of the GMB union, said: "Reports from across the country are that the strike action was rock solid. Members are determined to get government to listen to them."
Pay dispute
Unison said the action - the first strike by NHS staff over pay in more than 30 years - would send a "clear message" to the government.
Health Secretary Jeremy Hunt says a 1% pay rise for all NHS staff, could lead to job losses
As well as the RCM, there were another six unions involved in the strike in England - Unison, Unite, GMB, UCATT, the British Association of Occupational Therapists and Managers in Partnership. Between them they have over 400,000 members, including porters, cleaners and administration staff.
In Northern Ireland, members of Unite and the GMB staged a walkout from 11:00 to 15:00 BST.
Pay v inflation chart
Ministers in England have awarded NHS staff a 1% increase, but only for those without automatic progression-in-the-job rises.
These, designed to reward professional development, are given to about half of staff, and are worth 3% a year on average.
An independent pay review board had said the 1% increase should be across the board.
It was implemented in full in Scotland. Northern Ireland has yet to make a decision on pay, while Wales did the same as England but did give extra to the lowest paid. Some unions are balloting their Welsh members about action there.
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From the picket line: Dominic Hughes, BBC News
A boisterous, noisy picket outside the Edwardian facade of the old Manchester Royal Infirmary has been made up of nursing assistants, porters, paramedics and for the first time in their history midwives.
Plenty of cars are tooting their support as they pass on Manchester's busy Oxford Road.
Inside the hospital some services will be affected, and a number of midwives have already left the picket to go to staff a ward that was short on numbers.
So this is a symbolic strike but one that displays the real anger of health workers over pay.
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Health Secretary Jeremy Hunt said that hospitals would be forced to lay off staff if the recommended pay award was met in full.
"We have had very clear analysis that if we did that, hospital chief executives would lay off around 4,000 nurses this year and around 10,000 nurses next year," he said.
"The NHS has just come through a terrible tragedy with Mid Staffordshire when we discovered the most appalling care happening there and indeed some other hospitals as well.
"We have turned the corner on that by recruiting in hospital wards around 5,000 extra nurses in the last year alone. We don't want to turn the clock back on that."
Workers in Newcastle, London and Manchester support the strike
Christina McAnea, head of health at Unison, said the offer in England was a "disgrace".
"The fact that so many unions representing a range of NHS workers are taking action or preparing to join future actions should send a clear message to the government," she said.
RCM chief executive Cathy Warwick added: "At a time when MPs are set for a 10% pay hike, we're told that midwives don't deserve even a below-inflation 1% rise. And politicians wonder why the public does not afford them more respect.
"It feels to a great many people, including midwives, that there is one rule for them and another rule for everybody else."

Sunday 28 September 2014

John Moore-Robinson

Stafford Hospital spleen rupture patient could have lived

John Moore-Robinson John Moore-Robinson died hours after he was discharged from Stafford Hospital

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An inquest has concluded a patient who died after being discharged from hospital with an undiagnosed ruptured spleen could have been saved.
John Moore-Robinson died at home in 2006 in Leicestershire after staff at Stafford Hospital failed to notice the severity of his injuries.
Coroner Catherine Mason concluded had staff done their job properly, the 20-year-old would have survived.
His family said the hospital was "in meltdown" at the time.
Mr Moore-Robinson, from Sileby, near Leicester, was admitted to the scandal-hit hospital after a mountain bike accident on Cannock Chase.
He later collapsed at home and died in Leicester Royal Infirmary.
Stafford Hospital John Moore-Robinson was discharged from Stafford Hospital after he was diagnosed with bruised ribs
Mrs Mason found six separate shortcomings at the hospital's A&E all of which contributed to his death.
She said: "The seriousness of Mr Moore-Robinson's condition was not fully appreciated and decisions in relation to his care were made on incomplete information as a result of poor communication, poor documentation, inadequate assessment, insufficient investigation and an oversight to consider medical notes that were available."
She added that on the "balance of probabilities the loss of his life could have been prevented".
Speaking after the hearing, his sister Kelly Hainsworth said it had been a "long eight years" but they were satisfied with the facts and accepted the findings.
'In meltdown'
His father, Frank, believes other lives could have been saved if his son's death had been properly investigated at the time.
"Stafford Hospital at the time was in meltdown," he said.
"Many, many people have lost their lives, including our son John, and that we can never forgive them for. It's been a hard road but one we have had to take."
The inquest heard that a paramedic told Stafford Hospital he believed Mr Moore-Robinson's condition was potentially life-threatening.
Still vomiting
But the patient was sent home with a diagnosis of bruised ribs after an x-ray showed he had not suffered any bone fractures.
Friends described him as confused and still vomiting and they had to use a wheelchair to get him to a waiting car.
Staff told the inquest they felt "bullied" by a four-hour target for patients' length of stay in A&E.
Mrs Mason concluded that Mr Moore-Robinson was not triaged properly and a nurse failed to communicate "obvious" and relevant information which meant he was treated by a junior doctor more than an hour after his arrival at Stafford Hospital.
The hearing was the second inquest into his death after the High Court overturned the original ruling following a campaign by his family.

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Sunday 14 September 2014

wake up' during surgery

Some patients 'wake up' during surgery

Picture of the beginning of anaesthesiaSome people reported sensations of tugging and suffocation

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More than 150 people a year in the UK and Ireland report they have been conscious during surgery - despite being given general anaesthesia.
In the largest study of its kind, scientists suggests this happens in one in every 19,000 operations.
They found episodes were more likely when women were given general anaesthesia for Caesarean sections or patients were given certain drugs.
Experts say though rare, much more needs to be done to prevent such cases.

Start Quote

For the vast majority it should be reassuring that patients report awareness so infrequently”
Prof Tim CookLead researcher
'Unable to move'
Led by the Royal College of Anaesthetists and Association of Anaesthetists of Great Britain and Ireland, researchers studied three million operations over a period of one year.
More than 300 people reported they had experienced some level of awareness during surgery - some recalled experiences from years ago.
Most episodes were short-lived and occurred before surgery started or after operations were completed. But some 41% of cases resulted in long-term psychological harm.
Patients described a variety of experiences - from panic and pain to choking - though not all episodes caused concern.
The most alarming were feelings of paralysis and being unable to communicate, the researchers say.
Patient who woke in surgery: "Something must have gone wrong with the anaesthetic"
One patient, who wishes to remain anonymous, described her experiences of routine orthodontic surgery at the age of 12.
She said: "I could hear voices around me and I realised with horror that I had woken up in the middle of the operation but couldn't move a muscle.
"While they fiddled, I frantically tried to decide whether I was about to die."
'Rare but concerning'
She told researchers that for 15 years after her operation she had had nightmares of monsters leaping out to paralyse her.
And it was only after she made the connection between this and her operation that the nightmares stopped.
Each person's experience was analysed to identify factors that could make these situations more likely.
About 90% occurred when muscle-relaxant drugs - used to help paralyse muscles during surgery - were administered in combination with other drugs that normally dampen consciousness.
Picture of anaesthetist checking monitorAnaesthetists give a mixture of drugs to dampen down consciousness during surgery
Researchers believe in some of these cases patients received an inappropriate balance of medication, leaving them paralysed but still aware.
And there were several reports of awareness from women who had Caesarean sections while under general anaesthesia.
Though this type of anaesthesia is most often used in emergency situations, researchers say women should be informed of the risks.
Drug errors
They calculate up to one in 670 people who have Caesarean sections with general anaesthesia could experience some levels of awareness.
But experts argue this is partly due to the balance needed when achieving unconsciousness for the woman while still keeping the baby awake.
Other common factors include lung and heart operations and surgery on patients who are obese.
And some 17 cases were due to drug errors.
Researchers are calling for a checklist to be used at the start of operations and a nationwide approach to managing patients who have these experiences.
Prof Tim Cook, at the Royal United Hospital in Bath, who led the research, said: "For the vast majority it should be reassuring that patients report awareness so infrequently.
"However for a small number of patients this can be a highly distressing experience.
"I hope this report will ensure anaesthetists pay even greater attention to preventing episodes of awareness."

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