Individuals with rare genetic conditions are an underrepresented group in research, and this leads to health inequalities within this clinical group. Engagement with stakeholder groups (Unique: Understanding Rare Chromosome and Gene Disorders) and early research findings indicate that individuals with certain rare genetic conditions are highly vulnerable to childhood eating difficulties and eating disorders. This has been further exacerbated by the COVID-19 pandemic. Individuals with 16p11.2 deletion syndrome are at high risk of obesity and emotional over-eating, whereas patients with 16p11.2 duplication syndrome tend to ...

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We want to improve treatment for people diagnosed with oligodendroglioma (ODG). ODG is a rare type of brain tumour, and many people continue to live for many years after diagnosis. The standard treatment for ODG involves surgery which will remove as much of the tumour as possible followed by radiotherapy (RT) and chemotherapy treatments. In the UK, standard radiotherapy treatment uses photon radiotherapy. This treatment is given as lots of small doses called fractions, usually on weekdays over 6 weeks. This ...

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Each year 13,000 people in the UK are diagnosed with kidney cancer. Historically, many patients presented late with symptoms from large cancerous growths. In individuals with a normal kidney on the unaffected side, the standard treatment was to remove the entire affected kidney. Nowadays, most kidney cancers are found at an earlier stage when a scan is performed for an unrelated condition. These smaller cancers can either be treated by removing the entire affected kidney or just the portion of ...

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Principal question of the study. This research aims to find the shortest antibiotic treatment duration needed to treat urinary tract infections (UTIs) effectively. We will also look at the impact of each antibiotic and treatment duration on antibiotic resistance in bacteria found in the urine. Design and methods This will be an open-label,parallel group,multi-arm randomised trial with two sub-trials enrolling patients with: 1) cystitis,and 2) pyelonephritis. Participants with cystitis will be recruited only from primary care. Participants with pyelonephritis will be recruited ...

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Chronic (long lasting) pain is common with moderate to severe disabling pain affecting between 10.4 to 14.3% of the UK population. It is frequently associated with damage to nerves or the brain, this is called neuropathic pain. Chronic neuropathic pain can occur after strokes in up to 20% of stroke survivors (Central Post Stroke Pain, CPSP) and this form of pain can be difficult to treat with standard medical therapies. Deep brain stimulation (DBS) surgery involves the ...

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Some patients with severe Non-Ischaemic Cardiomyopathy (NICM), or heart failure that is not caused by diseased heart arteries, have a higher risk of experiencing serious abnormal heart rhythms that might be life threatening. Current guidelines recommend consideration of a device called an Implantable Cardioverter-Defibrillator (ICD) that can correct these. However, as many as 90% of patients with an ICD never use it because they do not experience a serious heart rhythm. In addition, as many as 1 in every 6 ...

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COVHIC002 is a human infection challenge study in which healthy adults aged 18-30 previously vaccinated with an approved COVID-19 vaccine will be administered a SARS-CoV-2 Delta variant virus. The aim is to achieve upper respiratory infection in the majority of challenged individuals with mild or no illness, providing information on the course of SARS-CoV-2 infection and the immune response in vaccinated people. This study will establish an optimised dose and study design that will then be used to evaluate the ...

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Deafness is the most frequent human sensory deficit. Cochlear implantation is the primary intervention. Currently 4340 people have bilateral Cochlear Implants (CIs) in the UK, most of these are children. Two implants are supposed to provide better access to sound, but it is challenging to interpret and integrate what is heard from both sides. Our ‘Living with CIs’ PPI group reported that everyday communication is challenging and tiring, with extra effort required to integrate information from two ears, especially in noise. ...

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The PART study aims to test whether treating only the part of the prostate containing the prostate cancer is as effective in curing prostate cancer as treating the whole prostate gland) and has fewer side effects. Treatment of the whole prostate gland (known as ‘radical’ treatment) includes surgical removal, radiotherapy, or brachytherapy. Prostate cancer is the most common cancer in men in the UK. Treatment of the whole prostate (‘radical’ treatment) is normally offered, even if the cancer is only on ...

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RAPSODI aims find the best type of joint replacement for the treatment of painful shoulder osteoarthritis. With increasing age, shoulder osteoarthritis is common and causes severe pain and stiffness making everyday activities difficult. After trying non-surgical treatments, a shoulder replacement may be offered, of which there are two types: Anatomic Total Shoulder Replacement (aTSR) which retains the normal shoulder joint anatomy and relies on the tendons (Rotator Cuff) around the shoulder being intact and functional. Alternatively, a Reverse Total Shoulder ...

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