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result(s) for
"Hartill, Clare"
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Expanding access to rectal spacers in the United Kingdom: an examination of current evidence and an early review of data from a single institution
2023
Background:Prostate cancer is a common malignancy with rising incidence in Western countries such as the United Kingdom. In localised disease there are a variety of curative treatment modalities. Patients can be referred for surgery, or for a combination of hormonal therapies and radiotherapy (external beam radiotherapy or brachytherapy). Each treatment option comes with side effects and in the case of radiotherapy one potential complication is bowel toxicity from radiation exposure. New technologies are being developed to try and mitigate the side effects and long term morbidity of this treatment, and to expand access to radiotherapy for patients who may previously have been excluded (i.e those with inflammatory bowel disease). Rectal Spacers are absorbable polyethylene glycol hydrogels injected into the perirectal space. These position the anterior rectal wall away from the prostate, subsequently minimising radiation dose to the rectum. Rectal Spacers have been introduced to National Healthcare Service (NHS) practice as part of the Innovation and Technology Payment (ITP) programme, however, their use is now under review.Methodology and Results:In this editorial we conduct a narrative review of some of the available evidence for Rectal Spacers, discuss their utilization within the NHS and the barriers to their wider use. We also explore preliminary dosimetry and quality of life data for use of Rectal Spacers in our centre where we have been part of the NHS ITP programme. Dosimetry data and Quality of life questionnaires were gathered from 22 treated patients and 11 matched controls. This indicated lower radiation doses to the prostate in those treated with Rectal Spacers.Conclusion:Rectal Spacers are an effective method to reduce radiation dose to the prostate in men treated for localised prostate cancer, however, their use remains under review in the NHS and there are a variety of barriers to upscaling their use.
Journal Article
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
by
Hartill, Verity L
,
Ahmed, Mushtaq
,
Kaiser, Frank J
in
Cells, Cultured
,
Child
,
Child, Preschool
2015
BackgroundThe genetic aetiology of neurodevelopmental defects is extremely diverse, and the lack of distinctive phenotypic features means that genetic criteria are often required for accurate diagnostic classification. We aimed to identify the causative genetic lesions in two families in which eight affected individuals displayed variable learning disability, spasticity and abnormal gait.MethodsAutosomal recessive inheritance was suggested by consanguinity in one family and by sibling recurrences with normal parents in the second. Autozygosity mapping and exome sequencing, respectively, were used to identify the causative gene.ResultsIn both families, biallelic loss-of-function mutations in HACE1 were identified. HACE1 is an E3 ubiquitin ligase that regulates the activity of cellular GTPases, including Rac1 and members of the Rab family. In the consanguineous family, a homozygous mutation p.R219* predicted a truncated protein entirely lacking its catalytic domain. In the other family, compound heterozygosity for nonsense mutation p.R748* and a 20-nt insertion interrupting the catalytic homologous to the E6-AP carboxyl terminus (HECT) domain was present; western blot analysis of patient cells revealed an absence of detectable HACE1 protein.ConclusionHACE1 mutations underlie a new autosomal recessive neurodevelopmental disorder. Previous studies have implicated HACE1 as a tumour suppressor gene; however, since cancer predisposition was not observed either in homozygous or heterozygous mutation carriers, this concept may require re-evaluation.
Journal Article
G2: Notes & Queries: Something fishy about bangers
* Fish sausages are great! I have eaten them. There is a traditional Scottish recipe dating from 1946 by the Scottish Women's Rural Institute: white fish, peeled prawns, mushrooms and breadcrumbs, with beaten egg, fine oatmeal and parsley. * We used to have \"fish sausages\" at school dinner in Japan. They were pink rubbery stuff containing all kinds of fish compressed together and processed with artificial colour, flavour and preservatives. Whale meat was also on the school dinner menu at that time (about 30 years ago). * A recipe for \"fresh and smoked salmon boudins\", aka fish sausages, can be found on page 91 of Leith's Fish Bible by Caroline Waldegrave and CJ Jackson. They are delicious.
Newspaper Article