Training Blog

Senior doctors are calling for human tissue to be routinely kept for genetic testing in cases where young people die without explanation. It is thought that the DNA from such samples may reveal an unsuspected inherited condition and save relatives’ lives. One doctor said pathologists should be encouraged to take the tissue and ask for consent later if necessary.

But the Human Tissue Authority said it was “alarmed” about public calls for practitioners to break the law.
The Human Tissue Act requires that appropriate consent is in place before the tissue is removed from a deceased person. During the implementation of the Coroners and Justice Bill we will consider the additional procedures that might be required to enable families’ wishes in this respect to be achievedquote here
Ministry of Justice spolesperson

Dr Mary Sheppard, of the Royal Society of Medicine’s pathology section and a leading expert on Sudden Cardiac Death (SCD), said some coroners did ask relatives already but others felt it was not part of their remit. She said: “If coroners routinely requested consent from the family to retain material for DNA testing at autopsies we would be able to find out far more about how the person died and possibly prevent other deaths in the same family.” She estimates that every year roughly 800 young people under the age of 35, apparently fit and healthy, die suddenly from unsuspected heart disease or without explanation.

The government has recently set up a database operated by the NHS Information Centre to collect reliable data from pathologists on these deaths.

• Inherited heart problems that can cause SCD:
• Long QT syndrome – a disorder of the electrical activity of the heart
• Brugada Syndrome- irregularities of the electrical activity of the heart
• Inherited cardiomyopathies or heart muscle diseases

Coroners are in charge of inquests and post mortem examinations and overseen by the Ministry of Justice.
A spokesperson for the Ministry of Justice said: “We recognise that some families who lose their loved ones tragically early would want a more extensive post mortem than is usually required by a coroner whose duty is to establish the cause of death. “During the implementation of the Coroners and Justice Bill we will consider the additional procedures that might be required to enable families’ wishes in this respect to be achieved. More generally, and in relation to specific research projects, the new Chief Coroner is expected to issue guidance on the handling for all requests relating to research into the causes of deaths which coroners investigate, and to provide advice to coroners on how they may or may not be able to co-operate.”

Alison Cox, founder and chief executive of the charity Cardiac Risk in the Young (CRY) said: “In the past two years we have seen the coroners taking huge steps to support families after the tragedy of a young sudden cardiac death. “DNA testing is clearly a potential resource for further information when it is possible to obtain it.”

Dr Paul Brennan, a clinical geneticist for the Northern Genetics Service, said there should be a change to coroners’ forms to deal specifically with consent for the pathologist to retain tissue for DNA extraction and storage. He said: “Until then, I would urge pathologists who have not had the opportunity to obtain consent, to think about taking these tiny tissue samples – usually a spoonful of blood or a cubic centimetre of spleen tissue – and then ask the relatives for consent. “If consent is not given, the tissue must, by law, be destroyed. But if it is not even taken in the first place, a huge potential benefit is lost.”

Adrian McNeil, chief executive of the Human Tissue Authority (HTA) said: “The HTA is alarmed about any public statement that urges practitioners to consider breaking the law governing consent and the taking of tissue for DNA testing. “We recognise Dr Brennan’s right, as a senior practitioner in the sector, to propose changes to the current law but cannot endorse what would be a clear breach of the legislation.”

Experts are warning that poor communication between hospital staff and with their patients is far too common and deeply damaging. According to the findings of a confidential review patients left out of the loop and staff clocking on and off without a handover was commonplace. Change in the hospital team structure over recent years has seen individual clinicians become “transient acquaintances during a patient’s illness rather than having responsibility for continuity of care”, says the NCEPOD report. It found a co-ordinated handover of patients between night and day staff only occurred in a quarter of the teams. In 13.5% of cases lack of communication compromised continuity of patient care.

In just over half (53%) of cases there was an apparent lack of input from senior doctors “leading to delays in giving patients timely and appropriate care”, report author and surgeon Ian Martin said. And 30% of the patients were not seen by a consultant within the recommended 12 hours after admission. In a fifth of patients who were not expected to survive on admission there was no evidence of any discussion between the health care team and either the patient or relatives on treatment limitation. Many “do not attempt resuscitation” orders were signed by very junior trainee doctors. NCEPOD chairman Professor Tom Treasure said the report vividly revealed the challenge medical teams face in making the transition between saving life and allowing natural death. “It should be ensured that patients achieve the best quality of life until they die. Effective team working and communication with patients, relatives and carers are fundamental to getting this right.”

Director of the Patients Association, Katherine Murphy, said: “These findings run the risk of undermining basic confidence in the NHS. Some of the examples are shocking. “NCEPOD is the nearest the NHS has to airline ‘near miss reporting’. Its findings must be acted upon, or problems will continue to plague vulnerable patients and their families.” John Black, president of the Royal College of Surgeons, said doctors had long been concerned that the loss of team working in hospitals had fuelled the risk of poor communication, and sub-standard patient care. He said the implementation of a 48-hour working week under the European Working Time Directive almost certainly meant that the problem had got worse since the latest study was carried out. Professor Black said the only way to address the problem was to opt out of the directive.

A Department of Health spokesperson said measures had been introduced to improve care – including an end of life strategy – since the report’s survey was carried out. “We are putting in place an extensive programme of health and social care training to support end of life care provision, including pilot projects to support the development of communication skills. He added that evidence from hospitals already implementing a 48-hour week showed a drop in mortality and no evidence of harm to patients. “Working together with the local NHS and the Royal Colleges we have set up a rigorous quality assurance process to give us an accurate picture of how EWTD is being implemented and so we can provide support where it is needed.”

Experts are warning that the cost of treating the growing number of people drinking heavily threatens to cripple NHS hospitals. If the trend continues the burden will be unsustainable with a quarter of England’s population consuming hazardous amounts, alcohol addiction already costs the NHS more than £2.7 billion a year.

The report claims that hospital care alone cannot solve the problem, but increasing out-of-hospital provision could be more cost effective. This would include GPs screening and counselling their patients on alcohol misuse. Trials suggest that brief advice from a GP, or practice nurse, leads to one in eight people reducing their drinking to within sensible levels. This, says the report, compares well with smoking cessation, where only one in 20 change their behaviour, changing the way alcohol-related services are delivered could save hospitals 1,000 bed days and Primary Care Trusts up to £650,000 a year, experts estimate.

Professor Ian Gilmore, president of the Royal College of Physicians, said: “The nation’s growing addiction to alcohol is putting an immense strain on health services, especially in hospitals, costing the NHS over £2.7 billion each year.” And this sum has doubled in under five years. “This burden is no longer sustainable,” he said. “The role of the NHS should not just be about treating the consequences of alcohol related-harm but also about active prevention, early intervention, and working in partnership with services in local communities to raise awareness of alcohol-related harm.”

Steve Barnett, the chief executive of the NHS Confederation, said: “We hope this report helps to outline the scale of the problems facing the NHS and acts as a warning that if we carry on drinking in the way that we are currently, the bar bill will be paid in worse health and a health system struggling to cope.”

Two thirds of PCTs have adopted reducing alcohol-related hospital admissions as a local priority for the first time. “The department is providing Primary Care Trusts with the support, tools and incentives to deliver alcohol services in their own areas effectively according to local needs.”

The NHS under the spotlight again! This is because they are being accused of not doing enough to protect staff from a daily barrage of punches, slaps and kicks. In the last 3 years there has ony been a 0.5% increase in sanctions against offenders, this is despite a promise of “zero tolerance” approach.

Some cases that have made it to court got dropped as it was deemed “not to be of public interest”. Surely the medical staff have the same rights as everyone else to go to work and do their job without fear of being attacked. Instead that basic right has been denied. The medical professionals are under enough strain as it is with the potential collapse of the institute that provides them with a job and the fact the NHS is stretched so much that there isn’t enough staff.

More should be done to protect those that provide such a valuable service, saving lives.

According to the University of London, the number of Down’s syndrome pregnancies has risen by more than 70% over the last 20 years. These statistics reflect the growing number of older women becoming pregnant, when there is a higher risk. An increase in the number of subsequent abortions and more antenatal diagnoses means slightly fewer children are being born with Down’s syndrome.

The number of Down’s syndrome pregnancies rose from 1,075 diagnoses in 1990 to 1,843 by 2008 in England and Wales. Despite this the number of Down’s pregnancies, the number of babies with Down’s syndrome has fallen by 1%, from 752 to 743. According to the study this is because improved antenatal screening means more Down’s pregnancies are being spotted and more abortions are taking place. Without the improved screening, the number of babies born with Down’s would have risen by 48%.

So what is Down’s syndrome?
A genetic disorder named after the British physician John Langdon Down, who identified it in 1866.
Inhibits the ability to learn and develop mentally.
About 60,000 people have Down’s syndrome in the UK.

Joan Morris, professor of medical statistics at Queen Mary, led the research and she said: “What we’re seeing here is a steep rise in pregnancies with Down’s syndrome but that is being offset by improvements in screening. Doctors told Natasha and Eddie Batha that there was a one-in-170 chance that their daughter Mia, who is now three, would be born with the condition, when it was discovered that Mia did have the condition they realised that it was not as bad as they had feared.

People seem to forget that there is a person behind the label who is just a little bit different, in some cases unless you were told a person has a specific condition you wouldn’t know. It would seem that if people were better informed about things like this then there may be fewer terminations because mothers are led to believe that if their child is diagnosed with something then it is the worst thing ever.

UK researchers claim that antidepressants get to work immediately to lift mood, contrary to current belief.
The researchers state that although patients may not notice the effects until months into the therapy, they work subconsciously. According to Oxford University Researchers the action is rapid, occuring within hours of taking the drugs.

Dr Michael Thase, a psychiatrist from the University of Pennsylvania, said the findings challenged conventional wisdoms and were potentially “paradigm-changing”. “The highest research priority is to confirm that the rapid effects observed in this study are predictive of eventual clinical benefit.”

He said it was possible that switching off the negative thoughts was a crucial part of the therapy.

Alternatively, it might merely be a sign that the drug was beginning to work at the cell level in the brain.

Paul Farmer, chief executive of Mind, said: “This research may contribute to our understanding of how our bodies respond to antidepressants, but the changes recorded can’t always be felt by patients and it can be some weeks before they begin to feel the symptoms of depression easing.

“We must also remember that the side-effects of medication can often be felt straight away long before the benefits really kick in, and this will always affect people’s experiences in the initial stages of treatment.”

Over 50% of adults feel that school sciences lessons should teach both evolutionary theory and creationism alongside each other. The survey was carried out in 10 countries which were:

• Argentina
• China
• Egypt
• Great Britain
• India
• Mexico
• Russia
• South Africa
• Spain
• USA

Of those surveyed over 7,000 knew of Darwin’s work already. In the survey people were asked which statements were closest to their own opinion about how evolutionary theories should be taught in science lessons in schools. The highest proportion agreeing that evolutionary theories alone should be taught was in India, at 49%, followed by Spain (42%).

Darwinism is a controversial theory as it challenges religious explanation for life on earth. However it seems that alot of people feel that it is good to have the two opposing theories taught alongside each other which would suggest that society has progressed and nows feels that both theories are valid and have equal credibility. It shows a tollerance of differences, this could be due to the fact that due to immigration and now countries are becoming more multicultural, if you attempted to teach all of the religious theories it would take a very long time.

Research has suggested that a drug used to treat cancer can stop contractions and may prevent premature labour. This research was carried out by a team from Newcastle University, they tested the drug Trichostatin A on tissue taken from 36 women undergoing a caesarean. They claim that it worked by increasing the levels of a protein that controls muscle relaxation.

Preterm labour and birth is the single biggest cause of death in infants in the developed world, around 1,500 babies die in the UK every year. There are a number of drugs which are used to attempt to stop early labour but research has shown them to have serious side effects.

The researchers got permission to take samples of the muscles of women undergoing caesarean sections at the Royal Victoria Infirmary in Newcastle. They exposed the muscle to TSA, a dfrug used to treat cancer, and measured the effects on both spontaneous contractions and those induced by the labour drug, oxytocin.
They recorded an average 46% reduction in contractions for the spontaneously contracting tissue and an average 54% reduction in the oxytocin induced contractions.

Professor Jane Norman, a spokeswoman for the Royal College of Obstetrics and Gynaecology (RCOG), said: “At the moment, it’s not possible to treat preterm labour effectively. We only have drugs that delay it by 24 hours or so – not enough to deliver the baby safely. There are experts who say that until doctors understand the cause of premature labour there is no way to develop a successful a treatment.

Of course as with any research there are those who feel that premature labour and birth can’t be or shouldn’t be prevented as the body has started labour early for a reason therefore doctors shouldn’t mess with nature. However mothers who have lost a baby because they were born prematurely would disagree and would claim that their child’s life should have been saved.

A study done by the University of Kansa suggests that failing memory may not be the first signal for the onset of Alzheimer’s disease. Their research showed that a decline in thinking and learning skills may be warning signs years before a diagnosis, it is thought that spatial skills, those used for completing jigsaws are the first to fail.

This research holds the key as current drugs are more likely to have a significant impact if given when the disease is still in its early stages. It is thought that approximately 700,000 people in the UK have dementia, with levels expected to soar in coming years as the population ages.

If techniques can be developed in order to detect the disease when it’s in the early stages, it can dramatically improve the quality of life for those who suffer from dementia and those who care for them. However, there is still the potential for it to have a negative impact as some people may become depressed and could also potentially be misdisagnosed. In some cases ignorance is bliss.

American researchers have found that children can be taught to use their imagination to tackle frequent bouts of abdominal pain. It is thought that the technique works particularly well due to their fertile imaginations. The research suggests that 1 in 5 children suffer with frquent abdominal pain with no identifiable cause. There were 30 children aged between 6 and 15 in the study half had 20 minute sessions of “guided imagery” this is where the patient is prompted to imagine things which will reduce their discomfort. The other half had the mainstream care.

It is thought that the treatment is very positive because it is inexpensive and is able to be self administered, which potentially opens the door for easily enhancing treatment outcomes for a lot of children sufering from frequent stomach aches.

This technique is an amazing breakthrough because this means that children can be treated by other means instead of drugs which is definately a positive. Also it means that more children can be treated without massive waiting lists which can be a definate plus for the NHS and the parents of the children who are suffering from abdominal pain and there is nothing they can do