World Alzheimer's Month

September 2012 is the first global "World Alzheimer's Month". Its aim is to challenge and consequently decrease the stigma* associated with dementia and make communities more "dementia friendly" so that many suffers become less isolated. To do this events have been set up all over the world this month!

Dementia is a term used to describe different brain disorders that affect memory, thinking, behaviour and emotion.

To give you an idea of scale there are currently more than 36 million people worldwide living with dementia.

General early symptoms of dementia include; memory loss, difficulty performing familiar tasks, speech difficulties and mood changes.

Although the symptoms can be generalised it must be remembered that everyone is unique and two dementia suffers are very unlikely to experience exactly the same symptoms.

Alzheimer's disease is the most common cause of dementia and therefore the cause which I am going to focus on. There are other causes too, for example vascular disease, where vessels supplying brain cells become narrower or blocked and this can cause these cells to seize functioning and die.

Alzheimer's disease causes nerve cells in particular regions of the brain to die. As a consequence messages cannot be transmitted in the brain, particularly those associated with memory and speech. Not only do nerve cells die but there is also a lack of some important chemicals associated with the transmission of messages. The disease is progressive meaning the damage to nerve cells increases over time causing the symptoms to become more pronounced and severe.

"Tangles" and "plaques" of protein molecules in the damaged areas of the brain can be seen under a microscope. Such images would confirm the diagnosis as Alzheimer's disease.

More detailed information on Alzheimer's disease can be found here!

Age is the greatest risk factor for dementia, it affects "one in fourteen people over the age of 65 and one in six people over the age of 80".

In terms of treatment there is currently no cure. At the moment early diagnosis is very beneficial and drug treatments are used to stabilise some of the symptoms/slow progression.

* "a mark of disgrace associated with a particular circumstance, quality or person" (Oxford English Dictionary)

'Three people, one baby' consultation begins

The Human Fertilisation Embryology Authority (HFEA) has launched a public consultation on the ethics of new IVF-based techniques designed to avoid serious mitochondrial diseases. Unlike other techniques, this would only benefit a small, select group of couples. However it would enable these couples to have a healthy child and future generations of the family would also be free from the genetic fault.

“Around 1 in 200 children are born each year with a form of mitochondrial disease. Some children have mild or no symptoms but others can be severely affected and have a shortened life expectancy. Symptoms include muscle weakness, intestinal disorders and heart disease.”

Mitochondria are passed onto a child from the mother’s egg only, and not father’s sperm. The basic idea behind the technique is to add a donors healthy mitochondria to the mix. This can be done in one of two ways, by using a donor embryo containing healthy mitochondria or a donor egg with healthy mitochondria.

These two techniques are summarised here on the BBC, take a look because it includes useful diagrams too! 

Research into the area is legal in the UK however it cannot be used in patients; scientists in Newcastle have created 80 embryos using the technique. A scientific review released last year concluded that there were no safety concerns that should prevent the technique being used in couples.

Any child born using the technique would be born with DNA from three people (as mitochondria contain their own genes in their own DNA), albeit the amount of donor DNA would be very small. This genetic modification to the “germ line” would be permanent and passed down from generation to generation.

It is largely this aspect that raises the ethics and many questions must be thought about, for example:

- Could the technique be exploited and modified to create “designer babies?

-How would a child born through this technique feel? Consequently when should they told? 

-What effect would it have on the parents?

-What is the status of the female donor?

Finally would you feel differently about the issue if your child was a sufferer of the disease? The HFEA will now act as an independent regulator “to seek public views on whether these techniques should be made available to couples at risk of having an affected child.”

Judge rules patient should be force fed

I came across an interesting article whilst reading the student bmj today and thought I would summarise it here.

The patient (unnamed) is described as being a "severely anorexic" 32 year old woman who has had a BMI "between 11 and 12 for the past two years." She was being allowed to die in an end to life care pathway however the judge ruled she should be force fed. 

The patient history includes record of serious sexual abuse between the ages of 4-11, unknown to the parents. She told doctors being force fed was like "reliving the abuse."

 

The judge believed she lacked the capacity to refuse treatment. Her fear of weight gain made her "incapable of weighing the advantages and disadvantages of eating in any meaningful way" and she was in a "drug haze" caused by heavy sedation. 

If a person is deemed to lack capacity, as in this instance, the court has to decide what course of action is in his/her best interest.

The patient "did not seek death but above all did not want to be fed" however granting her wishes would ultimately lead to death.

The judge is said to have based their decision on the basis that resources would be provided "in the short, medium and long term" during the treatment and the fact that the patient's views may change in the future as well as the capacity factor. 

Despite the judgement an eating disorder specialist put the prognosis of recovery at "10% to 20%"

Dial 999... and wait?

"Dial 999... and wait?" - The title of the BBC panorama program I watched last night, the program can be found here if you're interested in watching it yourself!

The program investigates the response times of the three emergency services following government public spending cuts.

Are increased wait times putting peoples lives at risk? The program looks at each service in turn and finally the ambulance service, the one which interested me most due to its links with the NHS and my interest in medicine.

NHS budgets are "ring fenced" meaning they are protected/isolated from public spending cuts. As a result of this you would expect that the NHS ambulance service would be exempt from these cuts. However to meet rising costs the service has been asked to make efficiency savings and to do this cuts have had to be made.

For example the use of enhanced clinical triage where clinicians assess each 999 call and determine how quick of a response each call requires and which calls need no response at all (saving ambulance journeys) as they can be dealt with over the phone.

The case study featured in the program describes an 83 year old woman who suffers a serious fall in her home but manages to call 999 from her mobile to ask for assistance. After waiting for an hour, hoping the ambulance would arrive any minute she called her daughter who then came to the house. She too called the ambulance service but was told her mother wasn't a priority case as she was still breathing and not bleeding. When the situation changed and became more serious an ambulance was dispatched and the woman was taken to hospital.

Despite incidences such as this government statistics show that all 12 ambulance trusts achieved the key  performance target of reaching 75% of all life-threatening situations within 8 minutes.

However representatives from ambulance trusts hinted that these statistics could be misleading and that 999 calls were being re prioritised in order to meet performance targets. For example "upgrading" a less serious incident to life threatening when an ambulance is in the surrounding area and can therefore reach the scene in or under 8 minutes.

There is no evidence to support such claims but representatives from different trusts are said to have all implied a similar message. If the claims were shown to be true they would obviously be taken very seriously and an investigation would occur.

Ultimately the question is, what will happen in the near future? I imagine there are challenges ahead as more savings will need to be made over the coming years. How will this be done? And will it have a significant, visible effect on wait times for the emergency services?

Blood doping

Having already posted about doping a week or two ago following the olympics I thought I would research blood doping following the accusations against Lance Armstrong and this is what I learnt...

Blood doping is the act of increasing the number of red blood cells (rbc) in the bloodstream in order to enhance athletic performance. Consequently haemoglobin (hb) the oxygen transporting molecule is also increased improving an athletes capacity (VO2 Max) and endurance. There are two types of blood doping, Homologous and Autologous doping.

A measure of rbc count is hematocrit, which is the volume percentage of rbc within the blood. This is normally around 45% for men and 40% for women as an average.

Homologous doping involves extracting someones compatible blood, concentrating the rbc, storing them and later transfusing them by injection before exercise. However a chemical test was developed in 2004 to identify anyone guilty of homologous doping, in very simple terms the test examines markers on the surface of blood cells with the ability to determine whether blood from more than one person is present in the athletes circulation.

Hence Autologous doping became more popular, the extraction of ones own blood, concentrating the rbc, storing them and later transfusing them by injection before exercise. The World Anti-Doping Association (WADA) are developing a test to compare the age of blood cells which has not yet reached official testing standard. The test compares the number of 'mature' (erythrocytes) and 'immature' (reticulocytes) rbc. Cells are marked using a fluorescent dye which marks RNA and DNA and automatically counted using laser technology. Erythrocytes have neither RNA or DNA, reticulocytes have a small amount of RNA and lymphocytes (white blood cells which are also present) have a large amount of DNA. The differences in dye concentration can easily be used to distinguish between the cells and there should be standard proportion of 'mature' to 'immature' rbc.

Hormones can also be used to increase rbc count and are often harder to detect. For example erythropoietin (EPO) stimulates the formation of rbc and is used medically as a treatment for anemia (deficiency of rbc). Athletes sometimes abuse this medical drug and use its properties to enhance performance.

Tony Nicklinson

For those of you who have read my blog before will know of Tony Nicklinson, a locked-in syndrome suffer, pursuing a "right-to-die" case. 

His case to allow doctors to end his life via the use of lethal drugs without fear of prosecution was rejected last Thursday.

The case differed from other "right-to-die" cases which have focused on assisted suicide. Tony Nicklinson would be unable to take lethal drugs, even if they were prepared for him by someone else due to his condition, the paralysis of nearly all voluntary muscles however is mind is fully functioning.

Despite being rejected the case has gone further than other cases on assisted suicide in English and Welsh courts.

I have utmost respect and the deepest sympathy for Tony Nicklinson as I cannot imagine how he feels following the news however the general consensus amongst health officials is that the correct decision was made. This particular case is heart wrenching and Tony's wishes are very clear but the court passed judgement considering the bigger picture, had the result been different what affect would this have had in the future?

Although described as a "right-to-die" case Tony Nicklinson can end his life through the means of a hunger strike as described in a very interesting interview(see bottom of page) with Prof John Saunders however Tony Nicklinson understandably wishes to die in a more dignified, pain free way and to do so requires the help of a third party, doctors. 

Detached from the emotion and sensitivity surronding the case several questions spring to mind, for example would such an act be murder? How would the doctor required to provide the "help" feel during/after the act?

This case along with many others highlights how complicated the issues surrounding assisted suicide are and how they incorporate a vast number of factors, not just the individual it concerns. For now the law on assisted suicide is to stay the same and each case will be dealt with on an individual basis and even then very few are accepted. 

Doping

Unfortunately the Olympics are over but at least I will no longer be glued to the sofa and how well did Team GB do!?

It's time for my passion for science and sport to feature again as yesterday it was announced by the International Olympic Committee (IOC) that Belarusian women's shot put gold medallist Nadzeya Ostapchuk has been stripped of her title after failing a doping test.

Both samples of her urine (taken before and after the event) tested positive for metenolone which as the IOC states" is classified as anabolic agent under the 2012 prohibited list."

Metenolone is an anabolic steroid with testosterone like properties. By mimicking the effects of testosterone the drug increases the amount of protein synthesis occurring within body cells, which results in the build up of cellular tissue (known as anabolism), particularly in muscle cells.

To state the obvious such development provides an unfair advantage over other athletes within the sport and hence substances such as these are banned! 

New Zealand's Valerie Adams, who was originally second, has now been awarded the gold medal.

Finally good luck to anyone receiving results this Thursday, I hope they go well for you!