Type 1 diabetes (T1D) is an immune-mediated disease in which insulin-producing betacells are completely or near completely destroyed, resulting in life-long dependence on exogenous insulin. It is a chronic and potentially disabling disease that represents a major public health and clinical concern. The number of patients diagnosed with T1D each year is increasing and is approaching an epidemic level in some countries that track this information The POInT study examines whether the development of T1D can be prevented in children with an increased risk ...

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Ultrasound is a mandatory tool for safely monitoring the growth and development of fetuses during pregnancy. Although pregnancy ultrasound is routinely used, 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 use of ultrasound ...

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Airways diseases include asthma,chronic obstructive pulmonary disease (COPD),bronchiectasis and nasal polyps. They are common and are responsible for a large amount of morbidity,mortality and healthcare utilisation and spending. Current guidelines and treatments for airways diseases generalise treatments for large groups of patents. It is increasingly clear that this approach is no longer fit for purpose as airways diseases are much more diverse than previously thought,requiring new classification and treatment approaches. This study will look in detail at lung function,lung physiology,and inflammation ...

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Sleep disorders are increasingly recognised as an important feature of various neurodegenerative diseases. They contribute to reduced quality of life and are associated with other poor outcome measures. Furthermore, it is now clear that sleep disorders can precede the onset of neurodegenerative disease and can therefore act as a marker of prodromal disease. The most important example of this relates to PD. Up to half of PD patients are thought to suffer from RBD, and many of these people develop ...

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The primary objective is to identify blood and/or bone marrow samples from adults with CHIP and evaluate the mechanisms by which mutations confer a competitive advantage to blood stem and progenitor cells. This includes determining where mutations occur in the cellular hierarchy of blood production,assessing their functional consequences,and analysing their effects on gene expression through RNA-sequencing and epigenetic analysis. Secondary objectives include measuring cell division and differentiation rates in normal human haematopoiesis,evaluating how these dynamics change during aging,and examining correlations between ...

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Millions of women suffer from the consequences of endometriosis and uterine fibroids. These include severe pain, abnormal uterine bleeding, infertility and miscarriages. Current treatment is associated with significant side effects and risks. To better understand the underlying mechanisms of these conditions, this prospective study will use biological samples such as blood, saliva, urine, peritoneal fluid and endometrial or fibroid tissue in state-of-the-art biomedical assays together with detailed clinical and intraoperative data from participants. Women of reproductive age (18 years until ...

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Patients receiving solid organ transplants must be maintained on drugs that suppress the immune system in order to prevent the immune system from rejecting the transplant. These medicines are highly efficacious, with one-year kidney transplant survival in the UK being > 95%. However long term outcomes are significantly limited by the serious and life-threatening side-effects of immunosuppressive drugs, which include enhanced rates of infection, malignancy and cardiovascular and metabolic disease such as heart attacks and diabetes. Long term maintenance on ...

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Endoscopic submucosal dissection (ESD) is a technique used to treat early cancer within the gastrointestinal tract. This technique was first developed in Japan though is now being practised in the West. An endoscopic knife is used to gently peel away the cancer in its entirety. This has led to excellent outcomes. Since the growth is removed in one piece there is a higher chance of achieving a complete cure and preventing recurrence. A difficulty, however, with the technique is the ...

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Genetic conditions sometimes appear “out of the blue” in the child of a healthy couple. Genetic testing shows an alteration in the child’s DNA, which is not - on routine investigation - present in the samples (usually blood) taken from either parent. This situation, in which a misprint has arisen at some stage during the copying of the DNA, is termed a “de novo mutation” (DNM). Although the DNM may appear to be a one-off occurrence, we know that the same ...

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It is normal clinical practice to offer several months of adjuvant chemotherapy to patients with early breast cancer who have involved axillary lymph nodes. A recommendation for chemotherapy is incorporated into a number of guidelines. Recently however it has been argued that chemotherapy may have little effect on the subtype of breast cancer that is broadly identified as being hormonally responsive without HER2 gene amplification/HER2 protein overexpression and with a low or intermediate grade. These patients already benefit ...

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