Autism almost entirely genetic – scientists study twins

Autism is almost entirely genetic in origin, according to new research that suggests the condition is more heritable than previously thought.

Genetic influence on Autism Spectrum Disorder (ASD) was estimated at between 74 per cent and 98 per cent, the study of 258 twins found. Genetic risk factors for ASD were also found to overlap with genes that influence less extreme autistic traits seen in the general population.

The study was carried out by researchers at the Institute of Psychiatry, Psychology & Neuroscience at King’s College London, and appears in the journal JAMA Psychiatry.

Lead author Beata Tick said: “Our main finding was that the heritability of ASD was high. These results further demonstrate the importance of genetic effects on ASD, despite the dramatic increase in prevalence of the disorder over the last 20 years.

“They also confirm that genetic factors lead to a variety of autistic skills and behaviours across the general population.”

The researchers analysed data from the population-based Twins Early Development Study, funded by the Medical Research Council.

TwinsCo-author Professor Patrick Bolton said: “The novel aspect of this study was the inclusion of twins regardless of whether they had a clinical diagnosis. This enabled us to get a more accurate picture of how influential a child’s environmental experiences and their genetic make-up is on ASD, as well as on subtler expressions of autistic skills and behaviours. Our findings add weight to the view that ASD represents the extreme manifestation of autistic skills and behaviours seen in the general population.”

Radowitz J.V 2015  The Independent – Weekend Briefing 07/03/2015 P.9

“Although the research findings are valuable they don’t provide hope of a route to curbing the increase in ASD.”

Croc Attacks – Snakes – Reptiles – A&E do have some variety !!

Three people bitten or struck by a crocodile or alligator were treated in hospital in England last year.

And another 74 were injured after getting to close to poisonous snakes, lizards and spiders.dangerous creaturesBee, wasp or hornet stings led to 1,170 visiting A&E, and two people were injured by scorpions between 2013-2014, according to the Health and Social Care Information Centre.

Rat bites accounted for another 37 admissions with 338 people injured by spiky or sharp plants.

Daily Mirror 26/02/2015 P.4

“The report didn’t say if the offenders were still attached to the victim !!”

Drugs Companies Giving Up On Alzheimer’s

James Moore’s comments in the Independent regarding the revelation that drug companies are giving up research on treatments for Alzheimers disease which appears to be nothing less than shameful.

Alzheimer’s is a hideous condition that exacts a brutal toll on sufferers and their families. It is already one of the developed world’s most pressing health problems. demographics may soon make it the most pressing.

ScientistThere is no shortage in the market for treatments. The trouble is that the cost of developing new therapies and then getting them through the regulatory systems of developed countries is extremely high. The approvals process is rigorous, as it should be, but it causes costs to escalate towards the end of a drug’s development leaving companies with huge bills should they fall at the final hurdle. Those costs are then recovered through the pricing of new drugs but the problem remains.

It is now 12 years since the last treatment was licensed in the UK.

Pharmaceuticals firms develop close to 90 per cent of new drugs but they are not charities. Their job is to earn a return on their product’s for their shareholders. So while it is dismaying that research has ground to a halt, it is hardly surprising that they have chosen to focus more on profitable lines. Railing against commercial reality is a pointless exercise. Yet the need to take action on Alzheimer’s remains urgent. Quite apart from the toll in human misery it exacts, the costs are truly staggering.

The launch by the charity Alzheimer’s Research UK of a Drug Discovery Alliance is therefore an important development. It will see the creation of a network of £30m research centres, involving 90 scientists at Oxford, Cambridge and University College London, who will spearhead the search for new treatments.

Such a collaborative effort is vital if progress is to be made, and further work along these lines would be welcome. So would the involvement of the state. There are always calls on the public purse but the potential time bomb that lurks beneath the social care budget as the numbers of those afflicted by Alzheimer’s grows ought to concentrate efforts.

But the drug industry could play a role too, for it ultimately stands to benefit in one way or another. It needs to recognise that if it cannot do the work on it’s own, it could at least make greater efforts to assist those that can. Corporate social responsibility demands it, and so does common humanity.

“In the UK, 850,000 people live with dementia. Every year, 225,000 people develop Alzheimer’s and on current trends, prevalence will more than double by 2050”

Contact Lenses to Ease Age-Related Blindness?

Contact lenses that magnify a field of vision like wearable binoculars could help millions of  visually impaired people to see clearly, scientists  say.

The contact lenses, developed at École Polytechnique Fėdėrale de Lausanne in Switzerland have an inbuilt ring of thin reflecting surfaces like tiny mirrors to magnify objects to nearly three times normal size. The mirrors circle a central lens and switch between normal and magnified vision when the wearer winks.

contact lenses

Although still in prototype, the lenses could be used for people with age-related macular  degeneration, a leading cause of blindness. There are also plans for military applications – the research was funded by the US department of Defence.

The Independent 14.02.2015 P.5

“The worlds’ got enough weapons – lets have research like this develop into affordable health care products.”

Mum Saved By Her 5-year-old Who Dials 999!

Despite her tender years, a girl of five sprang into action when she saw her mum unconscious at their home.

Frightened hero Sienna Adderley called 999 to to save mum Katie’s life.

Sienna fought back tears and told the operator: “I can’t wake her up. She is collapsed on the floor and now she is shaking.” The schoolgirl gave their address and looked after her little brother, Riley, 2, while waiting for paramedics and police.

A recording of the call was released yesterday to encourage parents to tell children about 999. Katie, 32, collapsed in the kitchen during breakfast. Sienna rang her dad but got no answer so – remembering what her parents had taught her – called the emergency number.

girl dialling 999Medics treated Katie and she came round at their home in Rugby, Warks. She said: “Thank goodness Sienna was here to help.”

Sienna described it as “very scary”, adding: “Everybody is saying I’m very brave… I’m glad I helped my mummy because I love her lots.”

Katie had suffered the episodes before, though doctors do not yet know what it is.

Sienna has won an award from police who called her a “superstar”.

“I love her lots” – you didn’t have to tell us Sienna, we know you do.

Military Doctors on A&E Wards

A crisis-hit NHS hospital has had Army medics treating patients.

Patients were shocked to see the troops on duty at St Mary’s Hospital in Paddington, London, last month.

army medicsLast year the hospital’s A&E department was described as being at “maximum  capacity”.

It struggled to hit waiting times for 13 weeks in the run-up to Christmas.

One patient said: “I was really surprised, it’s not every day you get the Army helping out at hospital.

“It’s worrying if they are there because there aren’t enough doctors.”

But health chiefs denied the Army medics were there to help with staff shortages.

An NHS source said it was part of a trial between the NHS and the Ministry of Defence to help train troops, they said the scheme  – called LIVEX – will help Army medics gain experience of real-life trauma before being deployed on the battlefield.

The medics spent a week at trauma centres at St Mary’s and the Royal London Hospital.

A Ministry of Defence spokesman said the NHS and the Army could both benefit from the knowledge-sharing scheme.

He added: “Members of the Defence Medical Services have recently undertaken a week in two London major trauma centres as part of their training.

“Events such as this are crucial to ensuring that skills developed during recent operations are not lost during periods of contingency.

“It is important that military medical staff receive training relevant to their operational role and this is best achieved in a major trauma environment.”

St Mary’s has been under pressure from a surge in patients after the  A&E department at nearby Hammersmith Hospital closed in September. Last week it emerged shortages across the NHS forced bosses to recruit 3,000 doctors from abroad over the past year.

It is not the first time troops have worked in NHS hospitals. Stafford Hospital drafted in Army medics to help in A&E during a staff crisis in 2011.

And soldiers helped out at Royal Liverpool Hospital during a strike by NHS staff last year.

A spokesman for Imperial College Healthcare NHS Trust said the exercise had “provided an opportunity for military personnel to sustain  and enhance their current skills to deal with serious injury in a live setting under guidance from our own doctors and consultants.”

He added: “As well as providing the learning environment for our military colleagues to sustain excellence in trauma care when on operations, this provided an opportunity for both teams to share ideas, opinions and experience so we could learn from each other.”

Dickinson. I  2015. Daily Star Sunday. o1.02.2015 p.2

” Hammersmith Hospital A&E closed – Stafford General Hospital A&E closed – 3,ooo doctors from abroad !!”

Doctor “Sacked by Text” – He Blew Whistle on Drugs Scam at Army Base

A SENIOR doctor was sacked by text while on holiday after blowing the whistle on a suspected drugs scam at a British Army base.

Dr Stephen Frost who led the campaign for an inquest into the death of a weapons inspector Dr David Kelly, was dismissed by the Ministry of Defence after calling for a police investigation.

You can't say thatHe claims their was a ‘cover-up of criminality’ over the ordering and dispensing of 2,400mg of the drug morphine sulphate for a patients instead of 400mg.

The incident happened before Dr Frost started working at the military camp’s medical centre. But less than a month after telling bosses he believed a crime had taken place, he was sacked by text and email while on holiday in North Wales.

He has now won a legal battle to bring a whistleblowing claim against against the Mod, seeking substantial damages that could run into hundred of thousands of pounds. There have long been calls for the protection of whistleblowers,  the Daily Mail  has revealed how NHS doctors have been gagged by their hospitals.

On Friday night Dr Frost said: ‘It is a great relief that the judge has allowed my claim to proceed..

‘ I have dedicated much of my life to working as a doctor for the Armed Forces and I took my job of treating sick and injured military personnel very seriously.’

Dr Frost, who had worked for the MoD for nearly twenty years, was employed on a six-month contract at Weeton Barracks, near Blackpool.

In August 2013, two weeks after he started the job, he was told a pharmacy technician had mistakenly ordered 40 60mg tablets of morphine sulphate instead of 10mg pills a month earlier. He checked with the patient, who insisted the lower strength drugs had been dispensed – leading the doctor to conclude that the stronger tablets were missing.

He believed it was unlikely the pharmacy technician had made a mistake and suspected she may have been forced into criminal activity.

Dr Frost expressed his concerns to members of the practice team and an internal investigation, and said the matter was so serious that police should be informed.

He was sacked in September 2013, without being given a reason, and told he was barred from working on another Army base.

The MoD – which said it only employed Dr Frost through an agency – tried unsuccessfully to get his claim thrown out on a technicality.

A spokesman said: ‘This case is subject to legal proceedings and it would be inappropriate for us to comment.’

Drury. I. 2015. Daily Mail. 31.01.2015  p. 14

“You must not “ruffle the feathers” of the establishment – naughty boy” !!!

Cataracts – Cause Found – Better Treatments?

Mark Reynolds reporting in the Daily Express – Scientists have discovered the cause of cataracts that could help in developing better treatments and diets to combat the condition.

They found that ducts in the eyes malfunction leading to a build up of abnormal protein levels that damage the eye’s lenses.

cataractsThe breakthrough could lead to a greater understanding of other diseases such as Alzheimer’s and Parkinson’s which are linked to the accumulation of abnormal proteins.

Cataracts are cloudy patches that develop in the lens of the eye causing blurred or misty vision.

The condition affects 2.5 million over-65s in England and Wales.

Experts have been divided on the exact cause of age-related cataracts, some have suggested they may be the result of changes in the structure of the lens over time.

Other risks include a family history of eye problems, smoking, drinking, a poor diet lacking in vitamins, lifelong exposure to sunlight and conditions such as diabetes or long-term uveitis – inflammation of the middle layer of the eye.

Many sufferers eventually have to undergo surgery to repair their impaired vision.

Scientists from Tufts University, near Boston, USA, found that a breakdown in communication between two biochemical pathways in the eye leads to cataracts.

Normally, obsolete or damaged proteins that can cause damage to the lenses are removed by the ubiquitin and lysosomal pathways. But scientists noticed that when the ubiquitin pathway falters, calcium flows into the cells of the lens which causes a third pathway to be activated.

It is this third pathway that causes cataract-related damage in the eye.

Professor Allen Taylor, at Tufts University, said: “We discovered that the ubiquitin pathway and the calpain pathway communicate with one another.

“When their conversation goes awry, cells start a vicious circle in which proteins are improperly degraded.

“This leads to alterations in proteins and the clouding of the lens that signals the onset of cataracts.”

The study was published in the Proceedings of the National Academy of Sciences.

Anger – 21 Cancer Drugs are Axed

“Not much point scientists finding treatments that end up axed and archived”

Thousands of cancer patients will be denied life-prolonging medication after health chiefs decided to axe 21 drugs deemed to expensive for the NHS.

cancer-1The move by the Cancer Drugs Fund will effect almost 8,000 sufferers a year – with the big losers being bowel, breast, lung and prostrate patients.

Although the de-listed drugs will remain available for existing patients doctors will be unable to prescribe them for new suffers from March.

The decision has sparked fury among cancer charities and doctors who say thousands will be denied ‘last chance’ medication that can give them extra months, if not years with their loved ones.

Launched in 2011, the £280million-a-year fund has led to around 55,000 patients in England receiving drugs banned on the NHS by rationing body NICE for not being value for money. The Government’s aim – a Tory election pledge – was to enable NHS doctors to prescribe any drug they believed could benefit a cancer patient.

But NHS England, which took over administration of the fund last year, has found 21 drugs – used in a total of 25 treatments – provide ‘insufficient  value for money’. Among them are three breast cancer drugs including Halaven, Jevtana used in prostrate cancer, three bowel cancer medications including Avastin and Alimta for lung cancer.

Critics say the UK lags behind Germany, France and Italy in prescribing life-prolonging medicines to cancer patients and the situation will get worse.

Mark Flannagan, chief executive of the charity Beating Bowel Cancer, said: ‘This is bad news for bowel cancer patients. It’s likely that 65 per cent of patients with advanced bowel cancer face the probability of an earlier death by being refused innovative treatments that were available before.

‘These changes are a backward step in treatment for advanced bowel cancer. Doctors will be forced to tell their patients there are treatments that can prolong their lives but they will no longer be available.’

The Rarer Cancers Foundation estimates 7,724 patients a year will lose out.

Chief executive Andrew Wilson said both the drug companies and NHS England ‘bear responsibility for this mess’.

He added: ‘These decisions will be devastating for patients.

‘If the Prime Minister is serious about his promise to cancer patients, he needs to bring together NHS England and the drugs companies to broker a deal to protect access to these drugs before the March deadline when patients will be denied treatment.’

Samia al Qadhi, chief executive at Breast Cancer Care, said: ‘Thousands of breast cancer patients have today been denied the chance of improved quality of life and extra time with their loved ones. This news is devastating for them.

‘The Cancer Drugs Fund is falling apart when there is still no long term solution in place.’

Dr Alison Birtle, consultant clinical oncologist at Lancashire Teaching Hospitals NHS Foundation Trust, said the decision to axe Jevtana was a travesty.

She added: ‘As a doctor who treats men with advanced prostrate cancer, I am deeply saddened and my patients will be devastated by this decision.

‘In my everyday experience, Jevtana has given some men with advanced prostrate cancer extra time. Some of the men that I started to treat with Jevtana three to four years ago are still alive today. Most importantly, this time has been of good quality, allowing them to carry on doing things they enjoy, despite their cancer.’

Professor Peter Clark, chair of the Cancer Drugs Fund, said, ‘We have been thrugh a robust, evidence-based process to ensure the drugs available offer the best clinical benefit, getting the most for patients from every pound.’

But Stephen Whitehead, chief executive of the Association of the British Pharmaceutical Industry, said that the fund remains merely a ‘sticking plaster’.

He added: ‘NHS England’s decision is extremely disappointing  and a significant blow to the health and wellbeing of future NHS patients.’

“Regarding our NHS, there’s not a scrap of good news in sight – none for the UK in general either”

Hope J. Daily Mail. 13/01/2015. P.10

Career Suicide – Speaking Out In The NHS

Almost two years ago, a cancer surgeon named Joseph Meirion Thomas decided that he could no longer keep quiet about what he regarded as a major abuse of the NHS.

The francis Inquiry into the hospital scandal at Stafford Hospital had just published its report reminding doctors of their ‘duty of candour’. Thomas interpreted that to mean health professionals ‘should feel supported and protected should they ever need to speak out’.

spectatorIn that spirit, he wrote in the Spectator magazine about ‘health tourism’ – foreign nationals using NHS services to which they are not entitled, placing an already overburdened system under yet more strain.

His article caught the attention of Jeremy Hunt, the Health Secretary, who ordered a full investigation. Encouraged, Thomas went on to write more articles about the NHS’s problems – much to the chagrin of the health establishment.

The last of these sought to challenge the idea that GPs are always and everywhere a force for good. In fact they’re overrated, he said. Rather than being ‘supported and protected’, Thomas then found himself suspended from his job and ordered not to air his views in public again. Even now, he is unable to tell his story.

Like most whistleblowers, Meirion Thomas is a prickly character, as Jeremy Hunt soon discovered. The Health Secretary contacted him in person after the ‘health tourism’ article to applaud his stand.

Hunt’s reward was a follow up article accusing the Government of failing ‘to grasp the nettle’ of health tourism – and then another arguing that its whole approach to NHS reform was wrongheaded.

He wrote a further piece in the Daily Mail proposing sensible measures to limit health tourism. The articles caused quite a stir.

It’s easy to see why. Many of the NHS’s 1.7million staff can see what’s wrong with the service but are afraid to speak out.

This lack of candour, as the Francis Inquiry concluded, has become one of the most serious problems facing British healthcare.

Even discussing NHS failures in private can be risky. Doing it in the press is tantamount to career suicide.

Just ask Shiban Ahmed, a paediatric surgeon who attempted to blow the whistle on the ‘barbaric and amateur’ circumcisions of boys aged six to ten at the hands of poorly trained GPs. He flagged the issue and ended up facing disciplinary action.

Or there’s Peter O’Keefe, a heart surgeon who was suspended (on ‘bullying’ charges) after he raised concerns about the treatment of a patient who had serious brain damage. Or Dr Raj Mattu, a cardiologist who lost his job at a Coventry hospital after warning on national radio that patients were dying because a cardiac unit was overcrowded.

But Thomas refused to be cowed. A year ago, he wrote an article for the Daily Mail floating the politically incorrect idea that the growing dominance of women doctors in British healthcare is a potential problem.

His full article led to Lucy Garden, a doctor in Nottingham, to put an online petition on change.org entitled: ‘Stop Prof Meirion Thomas disrespecting GP’s , female and overseas doctors in the media.’

She suggested that he’d breached the General Medical Council’s rules on doctorly behaviour.

It’s hard to change the culture of a cherished but flawed institution such as the NHS, especially when the treatment of such people as Thomas sends a strong message.

“Yes, the Government says you should speak out if you see something wrong. But look at what happens to those who do.”

Daily Mail. 01.01.2015 adapted article from Freddy Gray writing in the ‘Spectator’.