Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by an expanded cytosine-adenine-guanine (CAG) repeat in exon 1 on chromosome 4 of the huntingtin gene (HTT). This results in the production of a mutant huntingtin protein with an abnormally long CAG repeat leading to multiple downstream pathogenic effects and selective neuropathology. Those with greater than 39 CAG repeats are certain to develop the disease, while reduced penetrance is seen between 36 and 39 CAG repeats. Most individuals with HD ...

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This is a study putting together large numbers of patients with menopause and other menopause-related conditions to better understand the patient journey. The purpose is to answer questions about the diagnosis and management of menopause, which will be best assessed by combining these cases at a national level with patients recruited from centres throughout UK and Ireland. The information will be confidential and stored in a secure platform. Patients will be approached for consent to gather their data by their ...

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This observational cohort study will mainly use routinely collected data,e.g.,medical history,available laboratory blood/urine results,patient-reported health data,and documented treatment errors/complications of scheduled routine consultations and planned or emergency hospitalisations,with two data collection methods (Figure 1):  First,a retrospective & cross-sectional assessment of variables of interest from the time of study inclusion back to the time of onset and diagnosis of the condition.  Second,a prospective design assessing variables of interest from the time of inclusion up to five years of follow-up. Patients with an ...

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A pleural effusion is a build-up of fluid around the lung. In the UK, about 250,000 people develop a pleural effusion each year. People with a pleural effusion feel breathless and can’t do the things they want to. Draining the fluid helps with this, reducing breathlessness and improving quality of life. This can be done by inserting a semi-permanent tube called an indwelling pleural catheter (IPC). This is drained at home several times a week, usually by a community nurse. ...

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The aim of this study is to develop a reliable, validated, multidimensional questionnaire to assess breakthrough pain in 3-months-25-year-olds. Two versions of the questionnaire will be developed: a self-report form and a form for caregivers/healthcare professionals (for pre- or non-verbal children). This is a mixed-methods study comprising three separate studies. We will develop a first draft (alpha) version of the paediatric BTP questionnaire using standard, approved methodology. In the first study (Study 1), we will carry out interviews with children and ...

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This is a global open-label, randomized, multicenter, interventional study in pregnant participants with a prior FNAIT-affected pregnancy to assess the efficacy, safety, tolerability, PK, PD, and immunogenicity of nipocalimab or IVIG. ‘IVIG’ throughout the protocol will be referring to the IVIG with or without prednisone regimen adapted from Bussel et al (Bussel 2021). The studywill target participants whose current pregnancies are affected by HPA-1a and/or HPA-5b incompatibility. Maternal participants with alloantibodies against both HPA-1a and HPA-5b will be categorized under HPA-1a ...

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Kidney transplantation is the optimal treatment for chronic kidney failure, offering extended life and freedom from dialysis. However, in 2019/20, of the 8,300 UK patients on the transplant list, only 3,400 received a kidney, while 3,300 were suspended, and 400 died waiting. To address the organ shortage, more kidneys from higher-risk donors, such as those donated after circulatory death (DCD) or from older/sicker individuals, are being used. These kidneys are at greater risk of poor long-term function, often requiring recipients ...

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Background Epilepsy is a condition that affects the brain and causes seizures. Seizures are strong bursts of electrical activity in the brain that can lead to loss of consciousness, shaking and confusion. They increase the risk of falls and injuries and can affect people’s independence, ability to work, and care for others. Every year in the UK around 2,500 women with epilepsy get pregnant. Epilepsy is one of the leading causes of maternal death and women with epilepsy face higher risks ...

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Bone conduction devices (BCD's) are hearing aids which are given to people with a mixed or conductive hearing loss to improve their hearing. These devices deliver sounds to the patient by sending vibrations through the skull to stimulate the hearing organ. This study is looking to see if patients with a smaller degree of mixed or conductive hearing loss than would normally be considered for a BCD also so benefit from a BCD when we compare their speech understanding with ...

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Title: Cryopreservation of prepubertal testicular tissue for preservation of fertility in young boys with cancer Prepubertal boys treated for cancer are at risk of infertility as a result of their treatment. At present there are no options to preserve fertility in these boys. With informed consent, we aim to cryopreserve (freeze) testis tissue biopsies taken from boys undergoing cancer therapy with a high risk of infertility. A portion of cryopreserved tissue will be securely stored which in the future may be used to ...

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