Royal Devon and Exeter Research Repository
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4351 research outputs found
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The new national clinical guideline for stroke: an opportunity to transform stroke care
No full textPublished version (12 month embargo), accepted version (12 month embargo)RD&E staff can access the full-text of this article by clicking on the 'Additional Link' above and logging in with NHS OpenAthens if prompted
CLosure of Abdominal MidlineS Survey (CLAMSS): A national survey investigating current practice in the closure of abdominal midline incisions in UK surgical practice
No full textAIM: Incisional herniation (IH) is a frequent complication following midline abdominal closure with significant associated morbidity. Randomized controlled trials have demonstrated that the small bites technique (SBT) and prophylactic mesh augmentation (PMA) may reduce IH compared to mass closure techniques, but data are lacking on their implementation in contemporary surgical practice. This survey aimed to evaluate the use of the SBT and PMA and to identify factors associated with their adoption. METHOD: Between 22 January 2023 and 16 March 2023, consultant surgeons across the UK were asked to complete a 25-question survey on closure of an elective primary midline incision. RESULTS: Responses were received from 267 of 675 eligible surgeons (39.6%) in 38 NHS Trusts. Respondents were evenly split between tertiary centres (47.6%) and district general hospitals (49.4%). SBT and PMA were used by 19.9% and 3.0% of respondents, respectively. Compared to other techniques, surgeons using the SBT were more likely to close the anterior aponeurotic layer only, use single suture filaments, 2-0 gauge sutures and sharp needle points and routinely dissect abdominal layers to aid closure (all p < 0.001). Attendance at lectures/conferences on SBT (p = 0.043) and basing practice on available evidence (p < 0.001) were independently associated with use of the SBT. The commonest barriers to adopting SBT were a perceived lack of evidence (23.8%) and belief that personal IH rates were low (16.8%). CONCLUSION: A minority of UK consultant surgeons have adopted the SBT or PMA. Practice change should be driven by more widespread dissemination of current evidence and procedural information.RDUH staff can access the full-text of this article by clicking on the 'Additional Link' above and logging in with NHS OpenAthens if prompted
Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service
No full textOBJECTIVES: In October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England. This study aimed to explore parent experiences and their information and support needs from the perspective of parents offered pES and of health professionals involved in its delivery. METHODS: In this qualitative study, semi-structured interviews were conducted with 42 women and 6 male partners and 63 fetal medicine and genetic health professionals. Interviews were transcribed verbatim and analysed using thematic analysis. RESULTS: Overall views about pES were positive and parents were grateful to be offered the test. Highlighted benefits of pES included the value of the additional information for pregnancy management and planning for future pregnancies. An anxious wait for results was common, often associated with the need to make decisions near to 24 weeks in pregnancy when there are legal restrictions for late termination. Descriptions of dealing with uncertainty were also common, even when results had been returned. Many parents described pES results as informing decision-making around whether or not to terminate pregnancy. Some professionals were concerned that a non-informative result could be overly reassuring and highlighted that careful counselling was needed to ensure parents have a good understanding of what the result means for their pregnancy. Emotional support from professionals was valued; however, some parents felt that post-test support was lacking. CONCLUSION: Parents and professionals welcomed the introduction of pES. Results inform parents' decision-making around the termination of pregnancy. When there are no diagnostic findings or uncertain findings from pES, personalised counselling that considers scans and other tests are crucial. Directing parents to reliable online sources of information and providing emotional support throughout could improve their experiences of care.Published version, accepted version (12 month embargo)RD&E staff can access the full-text of this article by clicking on the 'Additional Link' above and logging in with NHS OpenAthens if prompted
Management and outcomes for older women with early breast cancer treated with primary endocrine therapy (PET)
No full textBACKGROUND: This study reports the detailed management and outcomes of women treated with Primary Endocrine Therapy (PET) in a large prospective UK cohort of older women (≥70) with breast cancer. METHODS: This was an unplanned secondary analysis of a prospective, multicentre, observational study (The Age Gap study). Data were collected at baseline and regular intervals on patient, tumour and treatment characteristics with tumour RECIST response category recorded. Direct study follow-up was 24 months with longer-term survival data obtained from the UK cancer registry. RESULTS: The Age Gap study recruited 3316 women across 56 breast units. Primary endocrine therapy (PET) was initiated for 505/3316 (15 %) women; median age was 84 (IQR 79-88) with median follow-up 41.9 months (IQR 27-60). Death occurred in 205/505(40.6 %) patients, 160/205; 78 % non- Breast Cancer related, 45/205; 21.9 % Breast Cancer related. Multivariate analysis identified older age (HR-1.055(95 % Confidence Interval: 1.029-1.084); P 0.05). CONCLUSION: Early disease response and change of endocrine therapy are not significantly associated with overall survival, conversion to surgery is linked to improved outcome. Prognosis is largely determined by age and comorbidity in older women treated with PET.UnknownJournal content freely available via Open Access. Some content may be unavailable due to publisher embargo. Click on the 'Additional link' above to access the full-text
Type 1 diabetes genetic risk contributes to phenotypic presentation in monogenic autoimmune diabetes
No full textDisease-causing variants in key immune homeostasis genes can lead to monogenic autoimmune diabetes. Some individuals carrying disease-causing variants do not develop autoimmune diabetes, even though they develop other autoimmune disease. We aimed to determine whether type 1 diabetes polygenic risk contributes to phenotypic presentation in monogenic autoimmune diabetes. We used a 67 SNP type 1 diabetes genetic risk score (T1D-GRS) to determine polygenic risk in 62 individuals with monogenic autoimmune diabetes and 180 non-autoimmune neonatal diabetes (NDM) controls. We used population-based controls (n=10,405) and individuals with type 1 diabetes (n=285) as a comparator. Individuals with monogenic autoimmune diabetes had higher T1D-GRSs compared to non-autoimmune NDM (mean 11.3 vs. 9.8; P=1.7×10-5) and controls (mean 10.3; P=7.5×10-6) but were markedly lower than type 1 diabetes (14.9; P= 3.3 × 10-21). These differences were explained by monogenic autoimmune diabetes cases having higher Class II HLA genetic risk, specifically from the DRB1*03:01-DQA1*05:01-DQB1*02:01 haplotype (DR3-DQ2) (P<0.01). In the presence of monogenic autoimmunity, the polygenic class II HLA susceptibility contributes to development of autoimmune diabetes. This suggests a role of class II HLA in targeting the dysregulated immune response towards the beta-cell.Journal content freely available via Open Access. Some content may be unavailable due to publisher embargo. Click on the 'Additional link' above to access the full-text
Transvaginal morcellation: tips and tricks and the role of Iavazzo score""
No full textPublished version, accepted version (12 month embargo)Not hel
Early Diagnosis and Treatment of COPD: The Costs and Benefits of Case-Finding
No full textAccepted version (12 month embargo)RD&E staff can access the full-text of this article by clicking on the 'Additional Link' above and logging in with NHS OpenAthens if prompted
Vaginal surgery for cervical cancer based on the recent results of LACC, SHAPE, SUCCOR and ConCerv trials
No full textUnknownJournal content freely available via Open Access. Some content may be unavailable due to publisher embargo. Click on the 'Additional link' above to access the full-text
A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder
No full textMicrorchidia CW-type zinc finger protein 2 (MORC2) is an ATPase-containing nuclear protein which regulates transcription through chromatin remodelling and epigenetic silencing. MORC2 may have a role in the development of neurones, and dominant variants in this gene have recently been linked with disorders including Charcot-Marie-Tooth type 2Z disease, spinal muscular atrophy and, more recently, a neurodevelopmental syndrome consisting of developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN), presenting with hypotonia, microcephaly, brain atrophy, intellectual disability, hearing loss, faltering growth, and craniofacial dysmorphism. Notably, variants in MORC2 have shown clinical features overlapping with those of Cockayne and Leigh syndromes. Here, we report a case of MORC2-related DIGFAN syndrome in a female infant caused by a novel heterozygous de novo variant. The condition was early onset and severe, further expanding the range of genotypes associated with this disorder. Clinical features included unilateral hearing loss, developmental delay and regression within the first year of life, microcephaly, severe feeding difficulties, and faltering growth, resulting in death at 13 months of age.Published version, accepted version, submitted versionThe article is available via Open Access. Click on the 'Additional link' above to access the full-text
Research priorities for progressive pulmonary fibrosis in the UK
No full textINTRODUCTION: Health research bodies recommend patient involvement and engagement in research and healthcare planning, although their implementation is not yet widespread. This deficiency extends to progressive pulmonary fibrosis (PPF), where crucial aspects remain unknown, including causal mechanisms, curative treatments and optimal symptom management. This study addresses these gaps by seeking stakeholders' perspectives to guide research and treatment directions. METHOD: A priority-setting partnership was established to explore stakeholders' priorities in the diagnosis, treatment, management and care of PPF, including idiopathic pulmonary fibrosis which is the archetypal PPF. Stakeholders included people living with PPF, their carers, relatives and healthcare professionals involved in their management. RESULTS: Through an online open-ended survey, 2542 responses were collected from 638 stakeholders. Thematic analysis identified 48 specific research questions, which were then cross-referenced with academic literature to pinpoint research gaps. Following the evidence check, 44 unanswered questions were shortlisted by 834 stakeholders in a second online survey. Ultimately, a top 10 priority list was established through consensus.The prioritised research questions include (1) improved diagnosis accuracy and timing, (2) development of new treatments, (3) enhanced accuracy in primary care, (4) optimal timing for drug and non-drug interventions, (5) effective cough treatment, (6) early intervention for PPF, (7) improved survival rates, (8) symptom reduction, (9) impact of interventions on life expectancy and (10) new treatments with reduced side effects. CONCLUSION: Stakeholders' priorities can be summarised into five areas: early diagnosis, drug and non-drug treatments, survival and symptom management. Ideally, these topics should guide funding bodies and health policies.Published version, accepted version, submitted versionJournal content freely available via Open Access. Some content may be unavailable due to publisher embargo. Click on the 'Additional link' above to access the full-text