CF

What is Cystic Fibrosis? 

Cystic Fibrosis (as most people would have learnt about at GCSE) is an inherited disease. It affects over 9,000 people in the UK with 5 babies every week being born with the disease. In order to inherit it you must receive two faulty genes, 1 from each of your parents, as such carriers of the disease have a 1 in 4 chance of having a baby who suffers from Cystic Fibrosis. It’s caused by a mutation on the long arm of chromosome number 7 in the gene for the protein cystic fibrosis transmembrane conductance regulator. This impairs the cells’ ability to manage chloride.    

What are the symptoms?

While there are many possible effects (most of which are detailed in the diagram below) the disease mainly affects the lungs and the ducts of the pancreas. As chloride cannot be managed effectively secretions throughout the body become thickened. In the pancreas tubes are blocked so digestive enzymes cannot reach the small intestine, as a result food is not broken down and sufferers appear malnourished. This can also cause diabetes in some people as insulin too is produced in the pancreas. The thickening also affects the mucus that lines the lungs. Over time it fills tubes, hardens and blocks them reducing lung capacity, it is this that makes the disease so fatal. One very odd symptom of CF is that when kissed the skin of a sufferer will taste unnaturally salty due to the inability to manage chloride.   

How is the disease dealt with?    

Medication:   

For the lungs and airways the medication is based around trying to increase lung capacity by breaking down mucus and making breathing easier by opening up airways. To this end bronchodilator drugs are used (commonly used for sufferers of asthma) to relax the muscles that surround the airways. Steroids are also taken to reduce the swelling of airways, while antibiotics are used to deal with infections and DNase (an enzyme) to break down the mucus.   

For the digestive system pancreatic enzymes should be taken with the first bite of every meal to aid in digestion along with nutritional supplements. Those who also suffer from diabetes as a result of CF would also take insulin.   

Physiotherapy: 

What is also commonly used a series of percussions on the chest in an attempt to loosen the mucus sitting on the person’s chest.      

Transplant: 

In the most serious of cases where both longs fail a lung transplant may be necessary. While there is a relatively high success rate (70%) for the operation itself, after 1 or 2 years the new lungs fail too. 

How has treatment progressed? 

In recent decades the life expectancy for sufferers has greatly increased. People today now have a life expectancy of around 40 with newly born babies having a slightly higher prediction. This is mostly due to the speed and extent to which the treatments are now administered.   

For more information on the disease visit: 


http://en.wikipedia.org/wiki/Cystic_fibrosis  
http://www.cftrust.org.uk/aboutcf/whatiscf/  


To see videos of real life stories:  


http://www.nhs.uk/Conditions/cystic-fibrosis/Pages/Introduction.aspx

Alex Butcher 

Know the score

In medicine, different scores are used in different situations to assess the condition of a patient. These scores are a useful way of summarising a patient and can therefore be used to decide the next step in that patients care. I’m going to concentrate on two of these scores.  The first we would all have been scored against at least twice in our lives while the second is something I hope none of us never have been and never will be scored against.

The Apgar score: 

This was a score developed in 1952 by an Anaesthesiologist called Virginia (surprise surprise) Apgar, one of the few female consultant Anaesthesiologists of her time. What makes her endeavours to promote this score so amazing is that she never had any link to obstetrics throughout her career yet made a system which would save the lives of thousands of babies. 

            So what is it? It is a score from 0-10 which every new baby is given normally one minute after birth followed by five minutes after birth. There are five criteria used in this score, each one given a weight of 0,1 or 2 points. The different criteria and how the score is decided is shown below:     

A baby with a score of 7 or above is generally healthy, while 4 and below there is cause for concern. There are many factors which can affect the initial apgar score but generally it is worsened if the baby was born by caesarean section or by a complicated delivery. What made this score so revolutionary was that people noticed that if proper care was applied to babies that had a low apgar score after one minute, their condition could vastly improve when the second score was given. Previously however blue and limp babies would be assumed to be still born and left to die.

GCS:  

            You’ve probably heard this abbreviation shouted across ER’s in your favourite episode of Casualty so prepared to be enlightened as to what these three letters signify. Glasgow Coma Scale……. Ok maybe it doesn’t sound that exciting but it has proved to be very very useful. This scale is a measurement of the conscious state of all trauma and acute medical patients. This particular scale is from 3 to 14 (or in the revised version 15) and similar to the apgar score is used to determine what the immediate next stage in the patients care should be. It was first created in 1974 by Graham Teasdale and Bryan J. Jennett who were professors at (yehp you guessed it) the University of Glasgow.  

            The scale is made up of 3 independent tests each concentrating on an individual section, the score from each section is then added together to determine the final score. Below again is a summary of how the score is decided.    

From this the severity of the brain injury can be estimated:

• Severe, with GCS <9
• Moderate, GCS 9-12
• Minor, GCS >12

For more information on the apgar score:

http://kidshealth.org/parent/pregnancy_center/q_a/apgar.html  

For more information on the GCS visit: 

http://www.patient.co.uk/doctor/Glasgow-Coma-Scale-(GCS).htm 

Alex Butcher 

Is it really possible to cough up a tumour?!

The simple answer, apparently, is yes. Prompted by a recent article in the metro I’ve done a little bit more research into an idea which truly seems impossible. In the article, it was described how a woman through two coughing fits coughed up a large tumour which had been accumulating in her trachea. At first the woman thought nothing of it, believing the small object from her first cough was just some viscous phlegm. However after her second round of coughing and the appearance of a much larger piece of flesh she went to her GP where the substance was sent to be tested. When it emerged that the malignant tumour this woman had inadvertently coughed was what it was she was scanned in an attempt to see if the cancer had spread. Miraculously, it hadn’t. The woman was perfectly healthy. These cases are incredibly rare with around only 30 known cases but even the one instance proves it is possible.    

Though there are few cases where a whole, previously undiagnosed tumour is coughed up there is something similar which is far more common. Through my research it seems that for patients undergoing radiation for lung cancer, coughing up parts of their tumours is surprisingly common. While it definitely does not happen in every case, many people find that they will produce small fleshy lumps after undergoing their treatment. I could not find any studies on this subject but what I could find was a blog forum with a doctor discussing instances such as these.

For the blog visit:  

http://onctalk.com/bbPress/topic.php?id=221  

For the original article in the metro visit:

http://www.metro.co.uk/news/887005-mother-saves-herself-from-cancer-after-coughing-up-inoperable-tumour

Alex Butcher 

Don’t worry it’s only your heart failing……..oh……..

            Recently many people close to me have been having cardiac problems and with increasing obesity and life expectancy in this country heart problems are becoming ever more common. Around 900,000 people have in the UK have heart failure with 68,000 new cases every year, primarily found in people above the age of 70. What heart failure definitely is not is your heart just stopping, (that would be a problem…) rather the weakening of a part or certain parts of your heart so that it becomes incapable of pumping the volume of blood around your body that is needed to for everything to function correctly.

There are different types of heart failure:

1. Systolic heart failure is when the ventricles of the heart do not contract properly with every beat. Severity of symptoms depends on how much the ventricles are affected. The left, right or both ventricles can be affected.
2. Diastolic heart failure is when the chambers of the heart do not fill correctly in between beats when the heart is at rest. This can be due to the ventricle walls becoming stiff and incapable of stretching far enough to accomodate a sufficient volume of blood. This can again be found on both sides of the heart.
3. Unfortunately there is a third option and this is that you can have both types at the same time!   

Heart failure rarely presents itself on its own, more often it comes accompanied with many other conditions which might include high blood pressure, certain arrhythmias and faulty heart valves.  

What are the symptoms?

            The symptoms normally depend on the side of the heart that is affected. For the left side these tend to be respiratory problems (mostly shortness of breath) made worse when lying down or doing exercise.

            If you have right sided heart failure swollen legs and ankles are commonly seen along with nausea, dizziness and loss of appetite.

How is it diagnosed?

            Heart failure is quite difficult to diagnose as the symptoms presented can be related to many many other conditions, however if it is suspected a echocardiogram is normally done (ultrasound of the heart) and from this a confident diagnosis can be made. In addition to this a blood test to test for natriuretic peptide can be done as this is sometime raised in patients with heart failure.

What can you do to protect yourself from heart failure?

            There’s nothing very specific that can be done but the usual suspects of drinking, smoking and lack of exercise all increase the risk of heart failure.

For more information on the drugs used to treat heart failure visit:

http://www.patient.co.uk/health/Heart-Failure.htm  

Other source of information:

http://www.nhs.uk/Conditions/Heart-failure/Pages/Introduction.aspx     


Alex Butcher 

What makes a good doctor?

This old age interview question is one that every aspiring doctor must consider when they are deciding if medicine is for them. I remember my impression of doctors when I was younger as being smartly dressed gods in white coats rushing around hospitals saving lives. This impression soon faded to the reality we see on work experience of very hard working people, often under a pile of paper work doing their utmost to improve the lives of their patients. By thinking about this reality and what you need to be a doctor you can discover if you think you have what it takes. As a first entry I thought it might be a good thing to write about, as the likelihood is many of us will have to answer this on the most important/stressful day of our lives so far (interview day!). Normally the interviewer will ask for the 3 most crucial qualities a doctor must possess, so it’s these qualities that I’m going to focus on.  

One of the most obvious but something that cannot be overlooked is how a doctor must be caring. Everything a doctor does must be an attempt to make their patients’ lives better, as the (now) cliché interview answer goes ‘I want to help people’. While saying this is metaphorically shooting yourself in the foot in an interview the problem is to be a doctor you must want to help people. If you are not a caring person maybe medicine isn’t the best career path for you…..   

Another important quality that is needed by everyone throughout their medical career is dedication. The day you decide to become a doctor you are saying you must get through one of, it not the most competitive university applications there is, pass one of the longest and most strenuous degrees there is and commit yourself to a lifetime of hard work (as we’ve all seen in our work experience). To do all this requires a huge amount of dedication and I think maybe it is this quality that makes all medics such amazing people.

Perhaps the most important thing a doctor must be is diligent. Diligence is defined as ‘The earnest and persistent application to an undertaking’ and without this work ethic you cannot be dedicated and you cannot be as caring as you need to be - why diligence is so crucial. Atul Gawande in his book ‘Better’ writes ‘The seemingly easiest and most sensible rule for a doctor to follow is: always fight.’, and is this not what diligence is? Persisting to fight and do the best for your patients.    

So those are what I believe are the 3 most important qualities a doctor needs, the only question is, do you have what it takes?  

Alex Butcher 

What's this all about?

My name is Alex Butcher and I am currently in year 12 working towards my A levels. It is my greatest ambition that in 2013 I will successfully apply to study medicine at university. To this end I am going to record in this blog all things of scientific/medical interest that catch my attention. Hopefully in this way I will create a useful means of portraying my love for science and all things medical. In addition to this I hope it can be a source of useful information, humour and inspiration for students in a similar situation to me. I really hope anyone reading this finds it of use and enjoys reading it. I'll do my utmost to make seemingly dull topics as captivating and interesting as I find them but as it is my first attempt at a blog perhaps don't expect too much!

So once again, enjoy reading!

Alex Butcher