Inherited retinal disease (IRDs) are a leading cause of visual impairment in the working age population. Mutations in over 300 genes are associated with IRDs and a genetic diagnosis, which involves identifying the affected gene in a patient, is the first step towards care and management of the patient. However, genetics diagnosis is currently slow, expensive and not widely accessible: - Average time to diagnosis is over 5 years and costs £10,000 per patient. - More than 40% of patients are ...

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Malignant pleural mesothelioma (MPM) is an incurable cancer of the lining of the lung, which is strongly associated with prior asbestos exposure. MPM typical develops after decades of asbestos-driven benign pleural inflammation and it is not known what triggers the evolution from benign inflammation to MPM, or how best to treat the cancer to reverse or halt these processes. Meso-ORIGINS forms the prospective tissue collection element of the PREDICT-Meso International Accelerator Network funded by CRUK/AIRC/AECC. Our aim is to generate a large prospective cohort of ...

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Adult SMA REACH is a project created to capture natural history data on adult patients with spinal muscular atrophy (SMA). SMA is a rare form of motor neuron disease caused by mutations in the survival motor neuron 1 gene (SMN1) and which affects both children and adults. In recent years, the field has seen a dramatic change in available treatments for this cohort of patients. Adult SMA REACH has established a clinical network of health professionals from clinical sites across ...

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Ultrasound is a mandatory tool for safely monitoring the growth and development of foetuses during pregnancy. Although pregnancy ultrasound is routinely used in developed countries, it has a major disadvantage, namely a high level of operator dependence: non-experts (or infrequent) users of the technology are often not able to acquire and interpret diagnostic ultrasound images consistently and reliably. Consequently, there is a significant requirement for training, and lack of adequately trained staff is the most commonly reported barrier to the ...

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Prostate cancer is the commonest cancer in men. Many prostate cancers are not lethal and can be safely managed by observation (Active Surveillance). Over time,more than half of the men choosing observation receive radical surgery or radiotherapy. Both treatments produce side effects and may be unnecessary. Most men opt for treatment because of their rising PSA (prostate blood test) levels. This usually reflects aging of the prostate,rather than advancing cancer. We aim to improve what is offered,so more men remain on ...

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When children are in intensive care, their blood pressure can fall. A low blood pressure (hypotension) can be dangerous, even life threatening. It can cause damage to the brain and other organs. Many intensive care treatments are used to increase blood pressure. These include intravenous fluids and drugs to make the heart pump harder. However, these treatments also have side-effects and complications. Currently, most doctors aim to achieve a blood pressure in the normal range for age. However, recent research ...

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OptiMATe is a randomised phase 3 superiority design with a primary endpoint of 2-year event-free survival. Patients will be randomised between the control arm (4 cycles of MATRix followed by HDT-ASCT) and the experimental arm. Patients in the experimental arm will receive one cycle of rituximab and high-dose methotrexate only; this less intensive initial treatment cycle aims to improve the patient's performance status and neurocognitive function and reduce early treatment-related morbidity and mortality. The second optimisation step involves abbreviation of ...

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We will conduct a randomised,double-blind,placebo controlled,Phase 2 study to evaluate the effect of the selective 11β-HSD1 inhibitor,SPI-62,6mg once daily for 12-weeks,on metabolic,bone and cognitive phenotype in patients with adrenal adenomas and evidence of MACS. 40 patients with MACS will be recruited from tertiary referral endocrine centres. All participants will have baseline investigations performed before treatment. We will collect clinical data by collecting biological samples including serum,urine,adipose tissue and microdialysis,as well as questionnaires and cognitive function tests. All participants will have baseline ...

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Background: Computerised Tomography (CT) imaging is frequently used in Emergency Departments to assess patients. This often requires patients to wait of up to several hours for a scan due to service pressures, with a further wait of up to several hours for a radiologist to look at the images and interpret the findings. This can lead to patients waiting a long time in the Emergency Department to be discharged home or have their problems diagnosed. We recently undertook a small ...

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Rehabilitation of movement after stroke depends on motor learning. Motor learning involves not only improvement during practice but also improvement between sessions, known as consolidation. Consolidation of learning depends on good sleep quality. However, there is growing evidence that sleep is disrupted after stroke and we recently showed that following brain injury, patients with poorer sleep show worse rehabilitation outcomes. This might occur because sleep disruption impairs consolidation directly, or might reflect other factors that influence both sleep and clinical ...

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