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Commentary

Should Consent be Needed for Organ Procurement?: A Discussion

Some would argue that it is simply unequivocal that removing consent in organ procurement is unethical and defies the pillars of modern medicine and human rights. Undoubtedly, there is a serious, horrifying problem with the amount of people awaiting transplantation, yet depriving people of autonomy over their body and removing their ability to express views against it for religious reasons is immoral. 

Clearly, consent is the basis of the pillars of medical ethics and it is the defining factor separating modern healthcare from the archaic paternalistic practice. Removing the requirement for consent in organ procurement removes the right over our own bodies and contradicts the basic core values of the NHS and all healthcare practitioners, who should aim to provide patient-centered care that is sensitive to their preferences and what they are comfortable with. In what other medical situation would we claim that consent was not needed? Would doctors then be able to enforce certain treatments, would we not recognise a patient’s wishes in terms of palliative care and would we ignore legal documents such as “Do not resuscitate” where patients are also deceased? Consent is such a powerful tool for a patient’s holistic care, which is why there is so much emphasis on Gillick-Competence and capacity to consent in all aspects of medicine, as well as law. Obviously, we are in desperate need of organ donations, it is undeniably a pressing issue yet we cannot relinquish the basic principles of medicine and defile the trust that patients and families place in healthcare practitioners to value their wishes and dignity in their time of need. 

Removing patients’ ability to consent is unethical. Undoubtedly, donors have an amazing ability to save lives but are our rights really suddenly meaningless after death? A paper by Ulster Medical Journal found organ donation without consent in the donor’s lifetime violates three sections of the European Convention on Human rights: Article 3 as it is inhumane if consent is not obtained during their lifetime, Article 8, which is the right to family life and privacy  as spousal rights would be removed and Article 9 as freedom of thought and religious beliefs may be ignored.Undoubtedly, we must look to increase the number of organ donors but this is a dishonourable and ill-thought out method of achieving it that could never succeed in the modern world where our human rights are so rightfully valued. 

Not only does unconsented organ procurement strip away the dignity and rights of the donor, it could also be a harrowing ordeal for a newly grieving family. At such a vulnerable time in their lives, loved ones may have to face the ethical dilemma and injustice of their deceased relative’s views being ignored and their consent seen as worthless. If we not only disregard the views of the patient concerned but also their family, the detrimental ethical implications are endless. Do we then not value next of kin’s wishes in cases of life support or palliative care, will parents and guardians lose the ability to consent on behalf of their child in certain situations? Consent is the basis to all decision making and laws surrounding medicine, surely it is clear that disregarding it is a ludicrous suggestion? How can we suddenly say that those whose religions strictly prohibit organ donation, such as Hindus and Jehovah’s Witnesses, rights to freely express their religious views are no longer valid? 

The knock on implications of removing consent for organ procurement are deeply worrying. Would organs always automatically be harvested even if they may not end up being required? How can we then prevent a black market for donated organs if doctors themselves are trivializing the importance of consent and valuing the ethical issues surrounding the very private issue of donations? Rather than creating unpopular obligations that the public will protest against, why not give the assumed consent system longer to see its effect (as it was only introduced in May 2020) and then look to continuous and more in depth education about donation rather than removing our rights to the choice. 

90% of the UK’s public claimed to be in favor and we are constantly seeing scientific and medical wonders relating to organ transplantation, for example the first successful pig kidney being transplanted into a human in the US just months ago. Why take the rash and unethical decision to remove patients’ autonomy when we can look to more constructive methods of winning support and true understanding about the transformative nature of organ donation, ensuring real support for the cause into the future. 

Sophie Farr, Youth Medical Journal 2022

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Commentary

Should the NHS Allocate Funding for Somatic Gene Therapy?: A Discussion

This article will be arguing that NHS funding should be allocated for somatic gene therapy. Unequivocally, somatic gene therapy is a wondrous medical advancement that can offer thousands of people treatment for debilitating diseases. I urge you to consider how extensive a reach this treatment could provide. If the NHS allocated appropriate funding for this life-improving research, all genders, ages, and classes could benefit from it. 

Some purport that gene therapy could cause a decline in pharmaceutical jobs due to fewer drugs being required if the biological source of symptoms is treated. How is this ethical or at all fitting with the NHS constitutional values or basic medical ethics? Do you propose we withhold life-changing treatment purely to ensure pharmaceutical companies can exploit these people’s suffering? Although economics undoubtedly have to be considered, it is inhumane and in blatant disregard of our duty to provide justice, care, and beneficence for all if we opt not to treat a multitude of aggressive illnesses such as cancer for the benefit of industry. Ask Debra, the mother of 7-year-old Jack Crick, who received gene therapy treatment at Great Ormond Street Hospital for an immune disorder, X-SCID. This treatment removed the need for harrowing chemotherapy and an invasive bone marrow transplant. Medicine aims to treat and cure; reducing dependency on drugs is the aim, not something to be avoided. As many people would argue, any treatment is expensive, so surely, rather than leaving people dependent on drugs for their whole lifetimes, we should invest in gene therapy research to treat the underlying cause and improve people’s quality of life. Although some argue that this funding would require cuts from elsewhere, it is vital that the NHS allocates funding to avoid elitism where only the wealthy can afford treatment and private companies monopolise. 

The ethics of gene therapy research is a contentious issue due to fears of euthenics and attempting to eradicate “undesirable” conditions. I would argue that NHS funding should extend to somatic gene therapy alone, removing the controversy of genetic editing or any possible attempt at euthenics. Despite germline gene therapy theoretically having the potential to edit genes so that characteristics are passed onto descendants, this article specifically focuses on somatic gene therapy, which is solely used to treat existing health conditions such as cancer, blindness, or epilepsy. By no means would this treatment be forced upon people; this outdated paternalistic medicine has no place in modern healthcare, but surely patients should be offered this often life-enhancing treatment? The objective of, arguably, all cancer treatment and research is to eradicate the illness; therefore, gene therapy would only aid this plight. In cases of blindness, somatic gene therapy could give those with visual impairment more sight, and, undoubtedly, it should be the patient’s choice, and they should have the option. 

Gene therapy and the research lessons learnt could offer solutions for other pressing issues affecting the NHS, such as cardiovascular disease. Research is our future: our citizens are at a major disadvantage if we allow ourselves to regress compared to other countries. Great Ormond Street has conducted gene therapy treatment on severely ill children with immuno-suppressing disorders and had very positive results. Harvard medical centre successfully treated a teenager with sickle cell disease in 2017. Just a year ago, a one-time gene therapy treatment was found to have reduced a monkey’s cholesterol for three years. Undoubtedly, further research is needed, but it is imperative that more NHS funding is allocated to this invaluable scheme. 80% of all rare diseases have a genetic component, meaning 80% could be treated through gene therapy. It is unequivocal that we should prioritise it. 

Gene therapy has the potential to be a long-term treatment that will offer benefits to the whole society for decades. In the case of cancer patients, gene therapy could allow more years to spend with loved ones, doing things that they enjoy. Despite some arguing that gene therapy is an unnecessary financial burden on the NHS, this treatment could actually help to buoy up our health service by reducing the number of patients reliant on the organisation for lifelong care. This could result in fewer patients who need ongoing treatments over many years, ranging from scans to surgeries. Although the starting costs may be high, once a gene therapy programme is established, it would lessen the burden on the NHS and free more money for improved care and preventative measures, which have proved to be so essential during Covid-19. It will also create a utilitarian society where more people can become economically active without illness and allow children like Jack Crick to attend schools and mix with other children. The positive effects stretch from economic to social.

As we have seen during the Covid-19 pandemic, research and science help us to prevail. If the UK allows itself to regress compared to our neighbours, we could be at serious risk of having to barter and buy this revolutionary treatment. Post-Brexit UK now has less of a right to scientific research happening in Europe, as we have seen during the Covid-19 vaccine rollout. If other countries progress with gene therapy research and we fall behind, we may have no way of accessing this treatment, and the thousands of patients in the UK who would benefit from it would go without. Consequently, it is vital that we advance with our own research and that the NHS funds somatic gene therapy treatment to avoid the prolonged suffering of those with genetic conditions and eradicate inequality globally.

Sophie Farr, Youth Medical Journal 2022

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Health and Disease

Impact of Obstetrics and Gynecology upon Modern Society

Obstetrics and gynecology are medical expertise making an enormous impact within society. It is responsible for continuing our species; without the specialty’s advancements, maternal and infant mortality rates would still be astronomical, and populations would have struggled through periods when deaths peaked, such as WW1 and WW2. Before antibiotics, blood transfusions, and cesareans, giving birth was fatal. Teenage girls gave birth with no anesthesia; in Victorian England, it is estimated that the MMR rate, a ratio comparing maternal mortality rates against births, was 10.5. This equates to roughly 10% of mothers dying per 1000 births. Steadily, scientific and technological advancements have revolutionized childbirth. Women benefit from a variety of drugs, including gas to full spinal block, and surgery, improving maternal and infant safety. From the beginning of pregnancy, ultrasounds allow obstetricians to monitor the baby. Inducing labor and dilation of the cervix prevents the fetus from getting stuck in the birth canal and becoming distressed. During birth, the fetal heart monitor is vital in guiding obstetricians as to how quickly the baby should be delivered. Emergency cesareans are available, intensive care can resuscitate fetuses, and ventilators can help babies breathe, even if they are weeks premature. 

Despite advancements, birth is hazardous, and obstetricians often have to step into perilous situations. A plethora of complications can occur, from the umbilical cord wrapping around the baby’s neck to the mother going into shock, and any negligence causes serious damage. It is crucial to realize birth is not safe for all. Difficult births can contribute to postnatal depression, impacting a mother’s ability to bond with her child. Obstetrics plays a major role in a special but terrifying time in women’s and children’s lives. Undoubtedly, the field impacts society immeasurably. 

Unfortunately, there is a correlation between increased mortality rates and living in a low-income country; few resources and unsterile conditions are detrimental to pregnancies in less economically developed areas. Countries such as Syria and Iraq are on high alert for maternal mortality. Accordingly, MMR rates show roughly 3%-11% of women are dying per 100,000 births. It is imperative that humans divert attention towards obstetrics and gynecology and recognize its colossal impact on society to improve these worrying statistics. Awarding more funding to this crucial field could send teams to struggling countries and focus on infection control, bleeding management, and providing education on pregnancy complications, the principal causes of mortality.

Furthermore, gynecology has an invaluable impact on society because of the contraceptive options it offers women, allowing reproductive rights and preventing a patriarchal system where pregnancy prevents women from having freedom over their sexuality. Removing the mini pill, IUD coil, and abortion means women would be sexually restricted, making them unable to engage in intercourse without the threat of unwanted pregnancy. Since abortion was legalized, fewer women have undertaken risky procedures, and a rising number of women are choosing to have terminations safely, rather than resorting to underground “backstreet” clinics that were historically responsible for many vulnerable young women’s deaths, desperate to abort. Through providing contraception, such as condoms, gynecology has reduced the spread of sexually transmitted diseases such as syphilis, gonorrhea, and HIV. If more funding were offered, specialist gynecologists could prioritize areas, offering education, helping to reduce the transmission of AIDs, especially in less economically developed countries where family planning facilities and access to contraception is still worryingly limited. 

Evidently, obstetrics and gynecology have a prodigious impact on society. Not only does it reduce deaths and support the human race, but it also offers options to women and actively reduces sexually transmitted diseases, a pressing issue affecting our liberal society. Without the care this specialty offers women, birth would still be extremely perilous. 

References

G. Chamberlain, “British maternal mortality in the 19th and early 20th centuries” J R Soc Med. 2006 Nov; 99(11): 559–563 ; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1633559/

GOV UK, “Abortion statistics for England and Wales: 2019” 2020 Jun; https://www.gov.uk/government/statistics/abortion-statistics-for-england-and-wales-2019

KidsHealth, “When your baby’s in the NICU”, 2019 Jan ; https://kidshealth.org/en/parents/nicu-caring.html

NHS, “Ultrasound Scan”, 2018 May; https://www.nhs.uk/conditions/ultrasound-scan/

Office for National Statistics, “Trends in births and Deaths over the last century” 2015 Jul; https://www.ons.gov.uk/peoplepopulationandcommunity/birthsdeathsandmarriages/livebirths/articles/trendsinbirthsanddeathsoverthelastcentury/2015-07-15

Stanford Children’s Health, “Fetal Heart Monitoring”, (unknown date) ; https://www.stanfordchildrens.org/en/topic/default?id=external-and-internal-heart-rate-monitoring-of-the-fetus-92-P07776

World Health Organisation, “Maternal mortality”, 2019 Sep; https://www.who.int/news-room/fact-sheets/detail/maternal-mortality

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Health and Disease

Epileptic Seizures: Causes, Symptoms, Treatment and First Aid

What is an epileptic seizure?

Epileptic seizures can vary in their presentation and which part of the brain they occur. In some people, seizures are very obvious and involve loss of consciousness with jerking and stiffness, which are classified as tonic-clonic seizures. However, other types of seizures, such as absence seizures, may be much more difficult to notice and present as blankness or unresponsiveness without visibly appearing to be unconscious. Seizures are typically categorized through where in the brain they begin and whether the patient is aware of their surroundings or if other signs such as muscle contractions and jerking occur. 

What categorizes a seizure as epileptic?

Epileptic seizures are seizures that start in the brain. Seizures can be a symptom of other underlying conditions such as hypoglycemia, a young child overheating, Lyme’s Disease, and, as we have recently witnessed in the media with the interest in drink spiking in the UK, seizures can indicate the presence of a toxin or poison in someone’s system. Although these can all be classed as seizures, because the brain is not the place of onset, they are not epileptic seizures.

Focal onset seizures: the causes and symptoms

Focal onset seizures begin in one part of the brain and only affect that side. Within the broader category of focal onset seizures, there are seizures where the person may be aware (which are also commonly referred to as simple partial seizures or focal aware seizures) and seizures which affect awareness (focal impaired awareness seizures or complex partial seizures). These types of seizures can also be broken down into whether they present with physical movement or not to help a medical team determine what treatment is needed. The physical movements that would be presented with focal onset seizures include spasms, muscle contraction and relaxation, and excessive movement or what could be perceived as fidgeting. In cases of non-motor onset focal seizures, the patient may not move at all and seem to be staring or experience cognitive and emotional symptoms such as not being able to speak properly or having emotional outbursts. 

Generalized seizures: the causes and symptoms

Generalized onset seizures originate in both sides of the brain simultaneously and begin very suddenly. Similar to focal onset seizures, generalized onset seizures can be separated into motor symptoms and non-motor symptoms. A commonly missed non-motor type of generalized seizure is an absence seizure, where the patient may appear to still be conscious and may be able to continue walking but is not able to respond and is unaware of their surroundings. 

Can doctors always classify seizures?

Often doctors may struggle to decipher what the specific onset of a patient’s seizure is, especially if they happen very irregularly or the patient has only ever had one seizure. While awaiting further investigation, doctors may describe someone as having unknown onset seizures as they are unsure where in the brain the seizure originates, yet this can still be categorized into the motor or non-motor presentation. Unclassified is another term that doctors can use to describe a patient whose seizures have a unique presentation or whose witnesses are unable to describe the symptoms. 

How can doctors treat epileptic seizures?

Those who regularly suffer from epileptic seizures may go through a period of trialing different anti-epileptic drugs after they have been diagnosed through an electroencephalogram, a scan that detects the electrical signals in the brain so it can record a seizure. Anti-epileptic seizures (AEDs) are effective in roughly 7 out of 10 people with epilepsy and they control seizures by changing the chemical balance of the brain. If doctors are unable to treat the seizures with AEDs, and the precise type of seizure is diagnosed, surgical options to remove a small section of the brain can help to prevent seizures. Although more invasive options such as surgery and the implantation of a small electrical device can be used, lifestyle options such as a ketogenic diet have also been noted to help those with epilepsy. 

What is the first aid for an epileptic seizure?

  1. Ensure the person is not in danger from their surroundings (i.e. traffic or electricity).
  2. Support their head and prevent injury to it through padding.
  3. Loosen anything restricting around their neck to keep their airway open (i.e. a collar). 
  4. Once the seizure has stopped, place them in the recovery position. Recovery position is when the person is on their left side with their arms out horizontally and right leg at a right angle to their body.
  5. Record the start and finish time of the seizure while staying with them to reassure them as they come round.
  6. If the person has never had a seizure before, an injury is obtained during a seizure, or they do not regain consciousness, call an ambulance.

Note: One seizure lasts for over 5 minutes.

Sophie Farr, Youth Medical Journal 2022

References

Epilepsy Foundation, “Types of Seizures”, Last Accessed 29/10/21 from: https://www.epilepsy.com/learn/types-seizures 

Epilepsy Society, “Epileptic Seizures”, Last Accessed 29/10/21 from: https://epilepsysociety.org.uk/about-epilepsy/epileptic-seizures 

NHS England “Epilepsy Treatment”, Last Accessed 29/10/21 from: https://www.nhs.uk/conditions/epilepsy/treatment/ 

NHS England, “What to do if someone has a seizure (fit)”, Last accessed 29/10/21 from: https://www.nhs.uk/conditions/what-to-do-if-someone-has-a-seizure-fit/

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Health and Disease

Cushing’s Syndrome: Causes, Symptoms, and Treatment

What is Cushing’s Syndrome?

Cushing’s syndrome is a rare disease caused by the body having excess of the hormone, cortisol. Cortisol is the hormone that causes a stress response, increasing glucose concentration in the blood and allowing the brain to increase respiration to repair tissue and, similarly the adrenaline, temporarily stops non-essential bodily functions such as digestion. Cushing’s syndrome is the umbrella term for the effects caused by abnormally high cortisol levels, which can become more serious if left untreated over a long period of time. 

What causes Cushing’s Syndrome?

Due to the rare nature of the syndrome, the main cause of Cushing’s Syndrome is through taking steroids, in medication such as hydrocortisone skin cream, over too long a period of time, increasing cortisol in the bloodstream. In a select few cases, Cushing’s Syndrome can be caused by a tumour causing the excess secretion of cortisol. There are two different areas that a tumour could be that may cause increased cortisol secretion: the pituitary gland in the brain or a tumour in the adrenal glands, above the kidneys. The pituitary gland is vital as it controls the release of hormones from other glands, such as the thyroid gland and adrenal glands. Pituitary related tumours can cause effects ranging from low energy, feeling depressed, delay or advanced reproductive development and delayed or enhanced growth. The adrenal glands are where the hormones cortisol and aldosterone are produced and stress hormones such adrenaline. 

What are the risk factors of Cushing’s Syndrome?

Cushing’s Syndrome is more common in adolescent to young women than men and it can be induced through taking steroid medications over a long period of time or at too high a dosage. Those who already have pre-existing pituitary or adrenal tumours, or have a family history of benign or malignant tumours in these regions, are also more at risk of developing the syndrome.

What are the main symptoms of Cushing’s Syndrome?

According to the NHS website, symptoms of Cushing’s Syndrome can manifest suddenly or gradually over a longer period of time and intensify the longer that they are left untreated. A key initial symptom tends to be weight gain and a higher percentage of body fat. This weight accumulation may be more prominent on the chest and stomach, while the limbs do not noticeably change size. A defining feature of Cushing’s Syndrome is a “buffalo hump” on the back of the neck, which is a protruding deposit of fat and a “moon” face, which is a puffy or rounded appearance, is also a characterising feature. 

Other less noticeable symptoms may also be presented, such as skin sensitive to bruising, prominent stretch marks, weakness in the arms and thighs, low libido, difficulty conceiving and  frequent change in mood. Cushing’s Syndrome can also lead to other comorbidities such as high blood pressure, which needs treatment to prevent it from becoming more serious. 

At what point should you consider seeking medical advice for Cushing’s Syndrome?

In the UK, if you believe you are suffering from multiple symptoms of Cushing’s Syndrome, especially if you are most at risk due to taking steroids, seek the advice of a GP. Cushing’s Syndrome presents itself in a similar way to other diseases, with closely linked symptoms, therefore they may undertake investigations but find that Cushing’s Syndrome is not the cause. 

How is Cushing’s syndrome Diagnosed?

The amount of cortisol in your body can be determined through a 24 hour urine test, which may show any abnormalities. Saliva tests and blood tests are also, although less commonly, used and you may receive a referral to a specialist hormone doctor, an endocrinologist, if raised levels are detected. If Cushing’s Syndrome is diagnosed and you are not taking steroids, you may be referred for further examinations such as X-Ray or MRI scans to check the pituitary gland for tumours or ultrasounds to check the adrenal glands, which are situated above the kidneys. 

What is the treatment for Cushing’s Syndrome?

If steroid medication is found to be the cause of Cushing’s Syndrome, your consultant may gradually decrease your dosage or eventually remove you from the medication completely. If a tumour is detected, surgery may be used to remove the tumour or less invasive options such as radiotherapy can be used. If the tumour cannot be removed or destroyed, medications can be used to reduce the impact of cortisol in your body. 

Sophie Farr, Youth Medical Journal 2022

Bibliography

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Health and Disease

Fibromyalgia: The Disease Which Causes Extreme Pain With No Definite Cause or Treatment

What is Fibromyalgia?

Fibromyalgia is a chronic condition that can cause pain across all areas of the body and often also causes extreme tiredness, sleep, memory, and mood problems. Although researchers are yet to discover a definite cause of fibromyalgia, it is suspected that the disease affects the chemicals in the central nervous system, causing non-painful and painful signals to be confused or amplified. 

How does Fibromyalgia Start and What are the Risk Factors?

Commonly, the onset of symptoms happens after a distinct event such as surgery, infection, physical trauma, or severe psychological stress. Despite this, not all patients have a certain event that may have triggered fibromyalgia; sometimes symptoms gradually worsen over time. Women are 7 times as likely to suffer from fibromyalgia than men and it is also more common in middle-aged 30-50-year-olds. People diagnosed with fibromyalgia may also suffer from headaches, irritable bowel syndrome, joint disorders, and mental health complaints such as anxiety and depression. A family history of a close relative having fibromyalgia increases the likelihood that you may develop it and other illnesses such as osteoarthritis, rheumatoid arthritis and lupus can mean you are more likely to suffer from fibromyalgia. 

What are the Symptoms of Fibromyalgia?

  • Widespread pain: typically described as a non-stop, dull ache that lasts for at least 3 months. The pain must be occurring on both sides of the body and above and below your waist to be considered widespread.
  • Extreme Tiredness: tiredness that does not necessarily improve after sleeping, even after excessive sleep. Sufferers may find that their sleep is poor quality because of pain and some also report sleep conditions such as sleep apnea or restless legs syndrome
  • Mental Function: patients also suffer from impairment to their focus, attention span, and memory which may be referred to as “fibro-fog”, making it harder to concentrate on demanding tasks at work or school

What other conditions can Fibromyalgia Co-exist With?

Fibromyalgia is commonly paired with comorbidity (another disease) that can exacerbate symptoms and impair quality of life. Irritable bowel syndrome often happens alongside fibromyalgia and can cause digestive problems such as pain after eating and bloating. Chronic fatigue syndrome or ME is another disease that can coexist with fibromyalgia and it also has no certain cause although it presents symptoms of extreme tiredness that do not improve. Fibromyalgia patients may also suffer from migraines and other conditions such as cluster headaches but this can be hard to extract from the headaches reported as a symptom of fibromyalgia itself. An autonomic nervous system disease called postural orthostatic tachycardia syndrome (POTS) can also afflict fibromyalgia patients and this causes blood pressure and circulation-related issues as the body cannot adjust to the change from lying, sitting, and standing to regulate blood flow. Anxiety and depression are also common diagnoses that fibromyalgia patients receive as the disease can cause a huge impact on everyday life and prevent patients from continuing with their work, everyday routines, and social activities. 

How is Fibromyalgia Diagnosed?

If you suspect you may have fibromyalgia, you should contact a primary care team such as your GP. Although there is no diagnostic test for fibromyalgia itself, it can be confirmed through the absence of any other clear cause of the symptoms. Patients will often have blood tests, MRI scans, and other investigations to decipher whether there is any other condition causing the pain and, if not, they will likely receive a diagnosis of fibromyalgia.

How is fibromyalgia Treated?

Despite not having a cure for fibromyalgia, doctors are able to relieve certain symptoms to improve quality of life. Antidepressants and long-term pain medications can help to alleviate the pain and therapies such as cognitive-behavioral therapy, as well as counseling, can help to reduce anxiety-related symptoms that patients often exhibit. Lifestyle changes such as exercise have been proven to help to reduce pain, as well as relaxation techniques such as mindfulness. It is also vital that those with fibromyalgia seek medical advice for any other diagnosed conditions they also have so that they can receive treatment for any comorbidities. 

What other Support is there?

Receiving a diagnosis of fibromyalgia can sometimes be hard to accept and can impact patients’ daily lives enormously. Support groups can be a valuable tool to help patients to manage their symptoms and not feel alone in their struggles. Fibromyalgia Action UK offers information and support online and it also provides local support groups while UK Fibromyalgia is another national support group. 

Sophie Farr, Youth Medical Journal 2022

Bibliography

NHS England, “Fibromyalgia”, Accessed from: https://www.nhs.uk/conditions/fibromyalgia, August 2021

Mayo Clinic, “Fibromyalgia”, Accessed from: https://www.mayoclinic.org/diseases-conditions/fibromyalgia/symptoms-causes/syc-20354780, August 2021

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Health and Disease

Frontotemporal Dementia: The Causes, Symptoms and Management

By Sophie Farr

Published 10:08 EST, Mon November 30th, 2021

Overview

Dementia encompasses a range of diseases which, over time, cause changes to the brain and mostly impact the elderly populations. Unlike other types of dementia, most notably Alzheimer’s disease, frontotemporal dementia predominantly affects speech and behavioural management and has an earlier onset than other varieties. The disease is labelled as frontotemporal as it is characterised by damage to both the frontal lobe and temporal lobe regions of the brain which are at the front and sides. Social interaction and personality traits are key functions of the frontal lobe and these are drastically impacted in patients with frontotemporal dementia. 

Causes

The main cause of frontotemporal dementia is atrophy- shrinking- of these regions of the brain, resulting in changes to behaviour, language and social interactions, which they are responsible for. Although it is a rare form of dementia, frontotemporal lobe is often highly noticeable to friends and family of the patient and this results in early diagnoses, typically between the ages of 45 and 65 when the majority of dementia cases usually occur in over 65 year olds. Despite some genetic mutations having been linked to frontotemporal lobe dementia, roughly 50% of patients have no existing records of the disease in their families. Upcoming research has supposedly found connections between frontotemporal types of dementia specifically and a type of sclerosis, amyotrophic lateral sclerosis (ALS).

Symptoms

Frontotemporal dementia is most commonly noticed by loved ones first as the patient’s social manners and behaviour gradually seem more erratic or inappropriate for their setting. This can be difficult for healthcare professionals to detect without knowing the patient well, meaning observation from close family and friends is vital to an accurate diagnosis. Symptoms often worsen over a few years, and apathy towards previous interests, lack of empathy and changes to their behaviour can be obvious symptoms. Despite these being more uncommon, frontotemporal dementia can also cause symptoms more common to other types of the disease such as cognitive problems and lack of mobility. Frontotemporal dementia can occasionally be misinterpreted as aggression, discourtesy and even obsessive behaviours and patients may develop new routines or even lose interest in self care and begin to have disregard for the feelings of others. 

Language can also be severely impacted by this form of dementia, where patients lose their vocabularies, mistake objects, struggle to form sentences and even copy what someone else says in conversation. Sufferers also often lack the ability to organise themselves or see other perspectives, becoming distracted and agitated very quickly and unable to stick to plans. Combined with these mental changes, those with frontotemporal dementia may also become incontinent and struggle to be mobile without difficulties. Although memory and physical impairments can occur, this usually happens when the disease is more progressed and behavioural differences will be observed first. 

Diagnosis

It can be challenging to get a diagnosis of frontotemporal dementia as the patient may be unwilling to cooperate or even be aggressive and rude when prompted to seek medical advice. If the sufferer suspects they may have changes to their behaviour or physical health, they should consult a GP and a loved one could perhaps urge them to make an appointment and join them for support while they are there. Doctors are able to assess the symptoms and further investigations at a hospital may be required to check whether any noticeable abnormalities are present in the frontal or temporal lobes. Other comorbidities can also be ruled out and this can offer both the patient and their family peace of mind. 

Management

Receiving a diagnosis of frontotemporal dementia can be challenging for both the patient and their family. It is common for some to reject the diagnosis and even be offended by it, however it is important that the right support is provided so that their quality of life is preserved and their families are able to manage their symptoms. The multidisciplinary team is likely to advise that a care plan is established, including whether nursing support is required at home, to support carers of those suffering with frontotemporal dementia. Antidepressants are occasionally used to manage symptoms and occupational therapy, speech and language therapy and dementia friendly groups and activities can help patients to remain as comfortable and independent as possible as the disease progresses. Despite it being a rare occurrence, antipsychotics can be prescribed to lessen violence or aggression that may risk the carers’ safety and creating coping mechanisms for challenging behaviour is advisory. Financial support may also be offered to help create changes to the family home to make it as suitable and accessible as possible for the sufferer. 

Sophie Farr, Youth Medical Journal 2021

Bibliography

Mayo Clinic, “Frontotemporal Dementia”, Accessed July 2021 from: https://www.mayoclinic.org/diseases-conditions/frontotemporal-dementia/symptoms-causes/syc-20354737

NHS England, “Frontotemporal Dementia”, Accessed July 2021 from: https://www.nhs.uk/conditions/frontotemporal-dementia/ 

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Health and Disease

Motor Neuron Disease: Symptoms, Causes, and Treatment

Motor neurone disease is the condition where messages from the motor neurones, which help carry electrical impulses from stimuli and sensory neurones, begin to stop reaching the muscles, preventing response. Stimuli include anything from sound, touch, smell, and even taste, which then allow an appropriate response, such as moving your hand away from a boiling object. In motor neurone disease (or MND), muscles, which are effectors in the stimuli-response cycle, meaning they put the response into action, begin to stiffen and waste away. Behavior and mental ability can also be affected. The disease is very uncommon, affecting roughly 5000 in the UK at any time, and can cause different symptoms in each patient.  

Causes

The causes of motor neurone disease are currently unknown. There is no clear hereditary link, although you are more likely to suffer from MND if a close relative has had the disease. MND is much more common in those over 50 and with other conditions, such as specific types of dementia. 

Symptoms

  • Weakness in the legs and ankles as well as trouble climbing stairs and more frequent trips and falls
  • Speech difficulty, including slurring as well as trouble swallowing and inability to express yourself through gestures and body language
  • Difficulty gripping items such as pens, opening jars, and often dropping things
  • Muscle cramps and tingling 
  • Weight loss due to muscle decay, which can cause thinning of arms and legs in particular
  • Inability to control laughter or tears in inappropriate situations
  • Changes to saliva consistency or volume
  • Weakened coughing, causing difficulty as unable to remove saliva
  • Difficulty breathing, leading to fatigue

Types

  1. Amyotrophic lateral sclerosis (ALS)- the most common form of MND that causes muscle wastage 
  2. Bulbar onset MND or Progressive bulbar palsy (PBP)- less common than ALS and affects the muscles in the face, throat, and speech, causing slurring and difficulty swallowing
  3. Progressive muscular atrophy (PMA)- affects a very minute proportion and causes problems with the hands and grip
  4. Primary lateral sclerosis (PLS)- highly uncommon and causes muscle stiffness and selected speech problems and is not usually life-shortening due to very slow progression

What can Motor Neurone Disease be Misdiagnosed as?

Motor Neurone Disease can sometimes present very similarly to Kennedy’s Disease or SBMA. Kennedy’s disease also affects the motor neurones and can cause muscle weakness and wastage, although additional hormonal problems may contribute. These two diseases are often confused at diagnosis, however, those with Kennedy’s disease usually live a normal lifespan. Problems with inflammation of the spinal cord, nerve damage, and muscle damage can also mimic MND, as well as strokes. It is vital to contact a GP as soon as symptoms of MND are observed for diagnostic tests

How is it Diagnosed?

  • Blood and urine tests can show rises in creatinine kinase, which is produced due to muscle wastage 
  • MRIs can prove that symptoms are not caused by another condition such as a stroke
  • Electromyography (EMG) and nerve conduction study (NCS) to show how electrical impulses and nerve function is working
  • Muscle biopsies to disprove other muscular conditions
  • Spinal taps and lumbar punctures can also rule out other conditions

Treatment

Although there is no way to treat the disease itself, there are ways that patients’ quality of life can be improved and day to day actions facilitated. Riluzole is a drug that has been proven to slightly slow down the progression of motor neurone disease, despite it still not being a cure. Specialized clinics with nurses and occupational therapists can help motor neurone disease sufferers. Regular physiotherapy can also help to combat muscle weakness, stiffness, and pain. In a more holistic approach, speech therapists and dieticians can also be involved in patient care to offer advice. 

Emotional support can also be vital for those with motor neurone disease and carers can be one way to allow sufferers to remain living independently. Joining groups and forums, such as the one run by the “Motor Neurone Disease Association”, can help to have advice and support from others who also have the disease. Organizations such as this can also offer financial support for those with motor neurone disease and advise as to where sufferers can seek professional help from hospitals who have expertise in motor neurone disease. 

References

“About MND.” StackPath, http://www.mndassociation.org/about-mnd/.

“Motor Neuron Disease: Types, Symptoms, Causes, and Treatments.” Medical News Today, MediLexicon International, http://www.medicalnewstoday.com/articles/164342#treatment.

“Motor Neurone Disease.” NHS Choices, NHS, http://www.nhs.uk/conditions/motor-neurone-disease/. 

Categories
Health and Disease

A Brief History of Organ Transplantation: The Past, Present, and Future

By Sophie Farr

Published 6:46 PM EST, Thurs June 10, 2021

History

Transplantation began with the basic principle of the Carrel Patch which proved that a vein could be reattached and still support a functioning blood flow. This technique was employed by the Ukranian surgeon Voronoy Kiev and allowed him to accomplish the feat of being the first person to successfully transplant a kidney in a cadaver. 

After this promising start to transplantation, medical advancements were catalysed during the Second World War of 1939-1945 and transplantation especially had major breakthroughs. The war meant that severe injuries were more common and novel treatments could be tested as a last resort. Skin grafts were first used to heal airmen’s burns and this prompted the realisation that the immune system may reject transplants, a problem which has continued throughout the surgery’s development. 

David Hume, an American doctor, was the first to attempt a kidney transplant in a living patient, albeit in the arm instead of in the normal position in the thorax. The implanted kidney was removed After two days and natural function then resumed and the patient miraculously survived. This is still seen in the NHS today with the “Bridge to Transplant System” which uses ventricular assist devices for prospective heart surgery patients that are then removed and if the relief has assisted function, full transplantation may not be necessary. 

In 1951, a doctor in Paris performed the first ever renal transplant, using the kidney of an executed criminal, into a patient in renal failure. Although the surgery failed, the kidney was transplanted into the groin and bladder which forms the basis of the modern technique. Still in Paris, the first ever successful live kidney donor, Mrs Renard, gave her organ to her son Marius in 1952. Mrs Renard’s kidney functioned in Marius for 21 days but then it ceased but this was most likely due to rejection.

Finally, the first successful transplantation was achieved in Boston in 1954, having been done on a set of identical twins. One twin was experiencing kidney failure and the other donated a kidney which was transplanted without rejection because of their identicalness. After renal transplants had been accomplished, liver transplants followed in the 1960s and the first successful heart transplant happened in 1967. This heart transplant was undertaken by Christian Barnard in Cape Town on a female car crash victim and marked the greatest achievement in transplantation, now allowing full heart and lung transplants. 

Present

Since the amazing triumph of successful transplants, the world has been focused on decreasing the likelihood of complications. Immunosuppressants have been widely used to reduce the chance of rejection and 6MP and azathioprine are the most commonly used after the immunosuppressive effect was demonstrated in a rabbit by Schwarz and Dameshek and on a dog in 1959 by Roy Calne, who later performed the first European liver graft in 1968 in Cambridge. 

Preservation has also been a pressing issue as chance of function is reduced with poor preservation. In the past, kidneys were simply stored in ice, preservation fluid and a plastic ice to remain sterile but this arrangement was less successful with livers so the University of Westconsin Preservation fluid was developed by Jamieson for normal liver function. This fluid, combined with improved anaesthetic and the ability to keep patients warm during surgery to prevent clotting, increased transplantation success rates by the 1980s and further advancements are still improving chances of success today.

The opt-out system of organ donation that the NHS moved to in March of 2020, where all adults are assumed to be donors unless they actively specify against, has mitigated against the issue of how few organ donations the NHS had. This, combined with the risk of reduced function due to storage, means that transplantations have long waiting lists and it is contentious as to who receives them. Currently, storing organs for more than 12 hours in ice means that efficacy decreases by 25% every 6 hours. 

Future

In the future, the main developments are likely to surround storage and preservation. Cold storage can cause tissue injury and immediate graft function is roughly 65% effective, compared to the delayed function that is only 35% effective. In order to combat these worrying statistics, ex vivo normothermic machine perfusion, a new technique that restores kidney function out of the body before it is transplanted to remove the issue of cold storage, is being tested as a way to repair kidneys and allow more organs to be successfully transplanted.

Write up based on “Horrible History of Organ Transplantation and its Future” at the Cambridge Festival 

Sophie Farr, Youth Medical Journal 2021

Categories
Health and Disease

Management for Heart Attacks: Angioplasty and Bypasses

By Sophie Farr

Published 7:21 PM EST, Wed April 21, 2021

What Is A Heart Attack?

Throughout our lives, deposits of saturated fats called plaques can build up in the arteries of our hearts because of high cholesterol levels. Over time, this can lead to the restriction of blood flow due to vessel narrowing. These fatty deposits can lead to a complete blockage of an artery because of formed blood clots. If this occurs in the coronary artery, oxygenated blood may be prevented from reaching the heart muscle tissue. Without this vital oxygen, which is needed for aerobic respiration and normal cell function, the heart muscle can begin to die. The longer the blockage continues, the more damage can be done to the heart;this effect is known as a heart attack. In the worst case scenario, if the clot is dislodged and becomes mobile, it may travel to different areas of the body and, when it reaches the brain, could cause a stroke. 

What Are The Risk Factors For Heart Attacks?

Your risk of having a heart attack is increased by both hereditary and lifestyle factors. Firstly, a diet full of saturated fats, such as butter, cakes and bacon, increases the LDL (low-density lipoprotein) cholesterol in your blood, leading to more fat deposits. Furthermore, a sedentary lifestyle means that deposits build up more readily; smoking can also cause this effect. Another key risk factor is genetics. Men are more likely to suffer from a heart attack than women. Stress hormones, such as cortisol, can increase your heart rate which, in turn, causes more fat deposits in arteries. 

What Are The Symptoms Of A Heart Attack?

The main symptom of a heart attack is severe chest pain which may radiate across the left arm, shoulder or even abdomen. Sufferers describe this pain to be “crushing” and “vice-like”, which can cause patients to collapse and be unable to perform daily activities. Despite some cases having extreme and visible symptoms, women and the elderly are more likely to experience lesser symptoms such as mild discomfort, agitation, lethargy and weakness. 

What Is The Immediate Response In Case Of A Heart Attack?

Treating heart attacks is a key part of most first aid qualifications. If you encounter a suspected heart attack, the crucial thing is to call emergency services as soon as possible to ensure the patient receives required treatment quickly. While you wait for further assistance, the pain of a heart attack can be partially relieved by sitting the patient in the “W” position. This refers to sitting on the floor, against a wall, and bringing your knees upwards to create a “W” shape. If there is access to medication, the patient should chew a 325mg aspirin, which works to thin their blood. This would allow potential blood flow through a blockage. 

Coronary Angioplasty

Coronary angioplasty is a medical technique that attempts to relieve the blockage by expanding the artery. Not all hospitals have access to the resources required to undertake this complicated procedure. Therefore, ambulances always attempt to take patients with suspected heart attacks to advanced cardiology units such as the Royal Papworth. Coronary angioplasties are usually done through a large vessel in the groin (the femoral artery) or the arm. A catheter, with a deflated balloon attached, is threaded through to the potential site of the blockage. Once the afflicted area is reached, the balloon can be inflated which expands the artery and relieves the blockage, allowing oxygenated blood to reach the heart. Commonly, a stent is also placed in the affected artery to hold it open to prevent further damage from deposits. These are typically made of a flexible metal and aid disease management into the future. 

Coronary Bypass

A coronary bypass involves taking a blood vessel from either the arms (radial arteries), chest (internal mammary arteries), or legs (greater saphenous veins) and reattaching it to the heart. This redirects blood flow to ensure oxygenated blood reaches the heart. The blood vessel created is referred to as a graft, and the whole procedure is done in 3-6 hours under general anesthetic. If there is a risk of a patient experiencing further damage to the heart in the same area, or another heart attack, this graft can help to lower the risk.

Sophie Farr, Youth Medical Journal 2021

References

NHS England, “Treatments for Heart Attacks”, Accessed March 2021 from: https://www.nhs.uk/conditions/heart-attack/treatment/#:~:text=Primary%20percutaneous%20coronary%20intervention%20(PCI),-Primary%20percutaneous%20coronary&text=It’s%20a%20procedure%20to%20widen,such%20as%20low%2Ddose%20aspirin.

NHS England, “Coronary Artery Bypass”, Accessed March 2021 from:

https://www.nhs.uk/conditions/coronary-artery-bypass-graft-cabg/

Mayo Clinic, “Cardiac Catheterization” Accessed March 2021 from: 

https://www.mayoclinic.org/tests-procedures/cardiac-catheterization/about/pac-20384695