'Valuing place in doctors’ decisions to work in remote and rural locations

Peer reviewedPreprin

'Valuing place in doctors’ decisions to work in remote and rural locations

Peer reviewedPreprin

Rurality, healthcare and crises : investigating experiences, differences, and changes to medical care for people living in rural areas

Acknowledgements This research was funded through grant 20/027 from NHS Grampian's Endowments and CSO project HIPS 19/37. This research would not have been possible without the time given by members of the public in Grampian, and doctors across Scotland to talk about their own experiences. The authors would like to thank their PPI partners and advisory panel for their help and input throughout the research to date, as well as Dr Rosemary Hollick, Professor Jennifer Cleland, Professor Peter Murchie, Professor Alan Denison & Professor Verity Watson. This paper benefitted from having parts presented at various conferences including the NHS Grampian R&D Conference where Andrew was awarded the Delegates' Prize. The authors would like to thank the comments of two anonymous reviewers and the editor in improving this manuscript prior to publication. Andrew Maclaren would like to thank Lily Maclaren for her support and keen eye in proofreading various versions of this work before submission. For the purpose of open access, the authors have applied a Creative Commons Attribution (CC BY) licence to any Author Accepted Manuscript version arising from this submission.Peer reviewe

Understanding recruitment and retention of doctors in rural Scotland : Stakeholder perspectives

Acknowledgements This research was funded through grant HIPS/19/37 from The Scottish Government’s Chief Scientist Office. This research would not have been possible without the time given by the key stakeholders to talk about recruitment and retention of doctors in Scotland. The authors would like to thank their advisory panel and PPI partners for their help and input throughout the research to date, as well as Dr Diane Skåtun & Dr Verity Watson in the wider research team. This paper benefitted from having parts presented or discussed at various invited presentations, seminars, workshops and conferences so the authors, particularly Andrew Maclaren, would like to thank the organisers of the Health Services Research Conference (held online in 2021), and ‘The North Strategic Planning Group’ in particular. Andrew Maclaren would like to thank Lily Maclaren for her support and keen eye in proofreading various versions of this work before submission.Peer reviewedPublisher PD

Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility

Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFβ receptor, paradoxical activation of TGFβ signalling is seen, suggesting that TGFβ antagonism may confer disease modifying effects similar to those observed in MFS. TGFβ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interes

‘Moving to the countryside and staying’? : Exploring doctors migration choices to remote and rural areas

Acknowledgements This research was funded through grant HIPS/19/37 from The Scottish Government's Chief Scientist Office. This research would not have been possible without the time given by Doctors across Scotland to talk about recruitment and retention themselves as well as share their own stories. The authors would like to thank their advisory panel and PPI partners for their help and input throughout the research to date, as well as Dr Mesfin Genie and Jillian Evans in the wider research team. The authors would like to acknowledge the constructive comments from two anonymous reviewer that helped develop this paper prior to publication. This paper benefitted from having parts presented or discussed at various invited presentations, seminars, workshops and conferences, Maclaren would particularly like to thank the organisers of the NHS Highland R&D conference, Health Education England – Remote, Rural, Coastal and Small Training Locations group, Rethinking Remote Conference, Health Services Research UK Conference, RGS-IBG ‘People moving to the countryside: resurgent again in COVID-19 times … but are they staying?’ session contributors, The North Strategic Planning Group, North of Scotland Workforce Learning Network, Royal College of General Practitioners Rural Forum. Andrew Maclaren would like to thank Lily Maclaren for her support and keen eye in proof reading various versions of this work before submission.Peer reviewe

Characterisation of amorphous molybdenum silicide (MoSi) superconducting thin films and nanowires

Data for the figures in the associated paper

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)

An amendment to this paper has been published and can be accessed via a link at the top of the paper