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Being Multicellular

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pathology

What is Charcot–Marie–Tooth disease (CMT)?

Charcot-Marie-Tooth disease is a group of diseases that damage the nerves that are outside the brain and spinal cord- the peripheral nerves- which control the muscles and sensory stimuli. CMT is caused by an abnormality in one of the genes (sometimes inherited from parents) that control the development of the peripheral nerves leading to the nerves becoming damaged. The reason why CMT is the umbrella term for ‘a group’ of diseases is because no single gene or fault causes CMT, there are a range of genetic faults that can damage the peripheral nerves. One of the genes that cause CMT causes the myelin sheath to wear down and so the axon, the part of the nerve cell that transmits electrical impulses, become damaged without the protection the myelin sheath provides; therefore, impulses to the brain and muscles are affected leading to numbness and weakness.

It is a progressive condition; it gets worse as the individual gets older. CMT may cause muscle weakness and numbness in the feet, ankles, legs and hands, have very arched feet and curled toes, cold hands and feet due to poor circulation and having an uneven gait. These symptoms may appear in childhood, usually between five and fifteen years old, but they may not develop until middle age [1]. A common sign is when a child has difficulty walking due to having trouble lifting their feet of the ground.

There is no cure but there are treatments that can increase mobility and the independence of the individual such as physiotherapy, occupational therapy and walking aids and surgery can be used to flatten the arch of the foot and correct muscles contractions where the muscles shorten which limits the range of movement[1].

[1] http://www.nhs.uk/conditions/Charcot-Marie-Tooth-disease/Pages/Introduction.aspx

©Being Multicellular 2017. All Rights Reserved.

Why Pathology is Important.

I was able to visit a pathology department recently and was told that pathology ‘is the science behind the cure.’ The department was responsible for testing blood, urine, tissue samples, even faeces. Even though getting samples were sometimes embarrassing or difficult if the patient is unable to collect their own samples, analysing them is how they were able to identify the problem with the patient’s health and therefore what treatment should be given.

One of the disciplines of pathology is clinical biochemistry. This concerns the bodily fluids like blood, urine and cerebrospinal fluid (fluid from the brain). Clinical biochemistry is important because the most common diseases like cancer, diabetes, heart problems and kidney failure are all identified in the lab. For example, to test for renal failure blood tests are carried out and the level of waste products like urea are measured in the blood since urea is formed by the break-down of proteins so if the level of urea in the blood increases then the kidney’s aren’t filtering it properly. There are also urine tests and scans that are used to diagnose.

Pathology is also important due to the amount of people that need to be tested. Unless the illness or disease is obvious or uses other equipment like scans for broken limbs, bodily fluids have be tested because there are a number of illnesses that have similar symptoms. For example, if you had a headache, you may just have a headache from a cold or it could be meningitis which are two very different illnesses or something else altogether. Then there is also different types of meningitis, there’s the virus and the bacterial type. If we didn’t have pathology, we could treat somebody for a disease that they don’t have and this trial and error method until there is a positive reaction from the patient could do more harm than good and doesn’t give the patient the best care if they’re just being treated like a guinea pig. Therefore, pathology has improved healthcare tremendously, no more guessing, we know how to identify different diseases depending on what is identified in the bodily fluids and so we are treating more accurately.

Pathology is not just used to find what treatment to give but also to manage this treatment and to say when treatment can stop so that we don’t have people living in hospitals for years. On that note, pathology is very important for the NHS because only the medicine and treatments that are needed to treat the illness that has already been identified and so medicine isn’t wasted and hospitals aren’t full of people that don’t actually don’t have to be on treatment anymore. Prevention and early treatment are also ruled by pathology, reducing the risk of diseases to progress to a point where treatment is no longer an option.

Another great advancement is that clinical biochemistry can be performed at a patient’s bedside now, or at their home if they are unable to get to a hospital. These tests can have immediate results which mean that the patient can receive treatment sooner. These aren’t as accurate as the tests in the lab but, for a person that would otherwise struggle to be tested or would have to wait for the results of a delivered sample to return, this is an important.

The great range of disciplines of pathology include research and diseases have been eradicated by the development of pathology like haemolytic disease, which affected newborn and foetus of Rhesus- negative women (where there is a possibility of the woman’s antibodies attacking the baby’s red blood cells)which has been almost eradicated from the development of  blood typing tests that identify this blood type.

Why else do you think pathology is important or what did I leave out? Comment below.

 

© Being Multicellular 2016. All Rights Reserved.

Sources:

https://www.rcpath.org/

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