Women with disease-causing gene changes (faults/mutations) in BRCA1, BRCA2, PALB2, CHEK2 and ATM are at an increased risk of developing certain types of cancer - specifically breast (all genes) and epithelial ovarian cancer (BRCA1, BRCA2, PALB2 only). At present, the risk estimates given by most health practitioners to women are broad (e.g. 35-85% lifetime risk of breast cancer for BRCA1 and BRCA2) and are not personalised. This can make it difficult for women to make informed decisions regarding risk ...

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Primary spontaneous pneumothorax (PSP) is an abnormal collection of air in the space between the lung and the chest wall, causing collapse of the lung. This type of pneumothorax is called primary, as it happens in patients with no underlying lung disease, and spontaneous, as it occurs without injury. Previous work by our group shows that 3,000 patients a year need admission to hospital to treat a PSP. Currently, patients with symptoms are treated by draining the air through a ...

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The median FiO2 using 3 high flow nasal oxygen flow rates(30,45,60 litres per minute) required to maintain an oxygen saturation =94 % and respiratory rate =30 in patients with acute respiratory failure.

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AIM: To assess whether movement minimisation is no worse than triple spinal immobilisation for patients who have may have or are suspected of having a spinal injury in the pre-hospital and emergency setting. BACKGROUND: Spinal cord damage often occurs as a result of road traffic crashes, sports injury or falls in frail people. Although rare, it can dramatically affect quality of life and lead to long term disability or death. In the UK, when a potential traumatic spinal injury occurs, current ...

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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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The purpose of this study is to assess the safety and expression of delandistrogene moxeparvovec (also referred to as RO7494222 or SRP-9001), a novel micro-dystrophin gene therapy, in participants under the age of 4 with Duchenne muscular dystrophy (DMD). Current treatment options for DMD include systemic corticosteroids which confer limited benefit while introducing significant side effects, and therapies aimed at restoring the production of endogenous dystrophin protein (e.g., exon-skipping) which are only available to a small proportion of patients with specific genetic mutations. Therefore, there continues ...

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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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