Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome
Conclusions We demonstrate the clinical utility of large panel-based sequencing and WES for patients with complex EDS in distinguishing rare EDS subtypes, LDS and related syndromes. Although many of the P and LP variants reported in this cohort would be identified with current panel testing, they were not at the time of this study, highlighting the use of extended panels and WES as a clinical tool for complex EDS. Our results are consistent with the complex genetic architecture of EDS and suggest a number of novel hEDS and HTAD candidate genes and pathways. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - February 21, 2024 Category: Genetics & Stem Cells Authors: Vandersteen, A. M., Weerakkody, R. A., Parry, D. A., Kanonidou, C., Toddie-Moore, D. J., Vandrovcova, J., Darlay, R., Santoyo-Lopez, J., Meynert, A., NIHR BioResource, Kazkaz, H., Grahame, R., Cummings, C., Bartlett, M., Ghali, N., Brady, A. F., Pope, F. Tags: Open access Genotype-phenotype correlations Source Type: research

Adoption of technology enabled care to support the management of children and teenagers in rheumatology services: a protocol for a mixed-methods systematic review
Introduction COVID-19 catalysed a rapid move to provide care away from the hospital using online communication platforms. Technology enabled care (TEC) continues to be an important driver in progressing future healthcare services. Due to the complex and chronic nature of conditions seen within paediatric rheumatology, TEC may lead to better outcomes. Despite some growth in published literature into the adoption of TEC in paediatric rheumatology, there is limited synthesis. The aim of this review is to provide a comprehensive understanding and evaluation of the adoption of TEC by patients in paediatric rheumatology services...
Source: BMJ Open - February 21, 2024 Category: General Medicine Authors: Rostron, H., Wright, J. M., Gilbert, A. W., Dillon, B., Pini, S., Redmond, A. C., Livermore, P. Tags: Open access, Paediatrics Source Type: research

How do quantitative studies involving people with dementia report experiences of standardised data collection? A narrative synthesis of NIHR published studies
People with dementia are routinely included as research participants in trials and other quantitative studies in which they are invited to respond to standardised measures. This paper reviews the reporting of ... (Source: BMC Medical Research Methodology)
Source: BMC Medical Research Methodology - February 16, 2024 Category: Research Authors: Kate Gridley, Kate Baxter and Yvonne Birks Tags: Research Source Type: research

Characteristics of alpha-1 antitrypsin deficiency related lung disease exacerbations using a daily symptom diary and urinary biomarkers
ConclusionsUse of an eDiary and urinary biomarkers to detect and characterise AECOPD remotely in AATD related lung disease is feasible over a prolonged period and paves the way for precision detection of exacerbations. (Source: PLoS One)
Source: PLoS One - February 2, 2024 Category: Biomedical Science Authors: Paul Ellis Source Type: research

Strategies to strengthen elective surgery systems during the SARS-CoV-2 pandemic: systematic review and framework development
Br J Surg. 2024 Jan 31;111(2):znad405. doi: 10.1093/bjs/znad405.NO ABSTRACTPMID:38300731 | PMC:PMC10833142 | DOI:10.1093/bjs/znad405 (Source: The British Journal of Surgery)
Source: The British Journal of Surgery - February 1, 2024 Category: Surgery Authors: NIHR Global Health Research Unit on Global Surgery Source Type: research

Associate Principal Investigators and the HEAL-COVID trial: good for trainees, good for trials
The NIHR ’s Associate Principal Investigator (API) Scheme in the United Kingdom was expanded nationally in 2020 with the aim of training clinicians to become Principal Investigators for clinical research in the... (Source: Trials)
Source: Trials - January 27, 2024 Category: General Medicine Authors: Joseph Newman, Philip Wild, Charlotte Summers and Mark Toshner Tags: Research Source Type: research

The Prehabilitation Radiotherapy Exercise, smoking Habit cessation and Balanced diet Study (PREHABS) protocol to explore the feasibility of embedding behavioural modifications into the clinical pathway for patients undergoing radical radiotherapy for lung cancer
Patients with curable non-surgical lung cancer are often current smokers, have co-existing medical comorbidities and are treated with curative radiotherapy. To maximise the benefits of modern radiotherapy, there is an urgent need to optimise the patient’s health to improve survival and quality of life. Methods and analysis The Yorkshire Cancer Research-funded Prehabilitation Radiotherapy Exercise, smoking Habit cessation and Balanced diet Study (PREHABS) (L426) is a single-centre prospective feasibility study to assess embedding behavioural changes into the radical radiotherapy pathway of patients with lung cancer. F...
Source: BMJ Open - January 25, 2024 Category: General Medicine Authors: Burnett, C., Bestall, J., Boland, A., Burke, S., Callister, M., Greenwood-Wilson, S., Hewison, J., Morgan, E., Murray, R. L., Pompili, C., Sloss, A., Williams, G., Franks, K. Tags: Open access, Oncology Source Type: research

Durable responses to ATR inhibition with ceralasertib in tumors with genomic defects and high inflammation
CONCLUSION Ceralasertib monotherapy was tolerated at 160 mg BD intermittently and associated with antitumor activity.TRIAL REGISTRATION Clinicaltrials.gov: NCT02223923, EudraCT: 2013-003994-84.FUNDING Cancer Research UK, AstraZeneca, UK Department of Health (National Institute for Health Research), Rosetrees Trust, Experimental Cancer Medicine Centre. (Source: Journal of Clinical Investigation)
Source: Journal of Clinical Investigation - January 16, 2024 Category: Biomedical Science Authors: Magnus T. Dillon, Jeane Guevara, Kabir Mohammed, Emmanuel C. Patin, Simon A. Smith, Emma Dean, Gemma N. Jones, Sophie E. Willis, Marcella Petrone, Carlos Silva, Khin Thway, Catey Bunce, Ioannis Roxanis, Pablo Nenclares, Anna Wilkins, Martin McLaughlin, Ad Source Type: research

Clinical and health inequality risk factors for non-COVID-related sepsis during the global COVID-19 pandemic: a national case-control and cohort study
This study aspires to elucidate the association between non-COVID-19 related sepsis and health inequality risk factors amidst the pandemic in England, with a secondary focus on their association with 30-day sepsis mortality.METHODS: With the approval of NHS England, we harnessed the OpenSAFELY platform to execute a cohort study and a 1:6 matched case-control study. A sepsis diagnosis was identified from the incident hospital admissions record using ICD-10 codes. This encompassed 248,767 cases with non-COVID-19 sepsis from a cohort of 22.0 million individuals spanning January 1, 2019, to June 31, 2022. Socioeconomic depriva...
Source: Cancer Control - January 9, 2024 Category: Cancer & Oncology Authors: Xiaomin Zhong Diane Ashiru-Oredope Alexander Pate Glen P Martin Anita Sharma Paul Dark Tim Felton Claire Lake Brian MacKenna Amir Mehrkar Sebastian C J Bacon Jon Massey Peter Inglesby Ben Goldacre OpenSAFELY Collaborative Kieran Hand Sian Bladon Neil Cunn Source Type: research

Palliative Care Costs in Different Ambulatory-Based Settings: A Systematic Review
ConclusionsThis systematic review reveals that studies on the costs of ambulatory-based palliative care are increasing. These studies are mostly conducted from a healthcare system perspective, which leaves out costs related to patients ’/caregivers’ economic burden. There is a need for prospective studies to assess this financial burden and evaluate, with strong evidence, the interventions and actions designed to improve the quality of life of palliative care patients. Future studies should propose cost calculation approaches using a societal perspective to better estimate the economic burden imposed on patients in amb...
Source: PharmacoEconomics - December 27, 2023 Category: Health Management Source Type: research

European Glaucoma Society - A guide on surgical innovation for glaucoma
Br J Ophthalmol. 2023 Dec 21;107(Suppl 1):1-114. doi: 10.1136/bjophthalmol-2023-egsguidelines.ABSTRACTPROLOGUE: Glaucoma surgery has been, for many decades now, dominated by the universal gold standard which is trabeculectomy augmented with antimetabolites. Tubes also came into the scene to complement what we use to call conventional or traditional glaucoma surgery. More recently we experienced a changing glaucoma surgery environment with the "advent" of what we have become used to calling Minimally Invasive Glaucoma Surgery (MIGS). What is the unmet need, what is the gap that these newcomers aim to fill? Hippocrates taugh...
Source: The British Journal of Ophthalmology - December 21, 2023 Category: Opthalmology Source Type: research

European Glaucoma Society - A guide on surgical innovation for glaucoma
Br J Ophthalmol. 2023 Dec 21;107(Suppl 1):1-114. doi: 10.1136/bjophthalmol-2023-egsguidelines.ABSTRACTPROLOGUE: Glaucoma surgery has been, for many decades now, dominated by the universal gold standard which is trabeculectomy augmented with antimetabolites. Tubes also came into the scene to complement what we use to call conventional or traditional glaucoma surgery. More recently we experienced a changing glaucoma surgery environment with the "advent" of what we have become used to calling Minimally Invasive Glaucoma Surgery (MIGS). What is the unmet need, what is the gap that these newcomers aim to fill? Hippocrates taugh...
Source: The British Journal of Ophthalmology - December 21, 2023 Category: Opthalmology Source Type: research

European Glaucoma Society - A guide on surgical innovation for glaucoma
Br J Ophthalmol. 2023 Dec 21;107(Suppl 1):1-114. doi: 10.1136/bjophthalmol-2023-egsguidelines.ABSTRACTPROLOGUE: Glaucoma surgery has been, for many decades now, dominated by the universal gold standard which is trabeculectomy augmented with antimetabolites. Tubes also came into the scene to complement what we use to call conventional or traditional glaucoma surgery. More recently we experienced a changing glaucoma surgery environment with the "advent" of what we have become used to calling Minimally Invasive Glaucoma Surgery (MIGS). What is the unmet need, what is the gap that these newcomers aim to fill? Hippocrates taugh...
Source: The British Journal of Ophthalmology - December 21, 2023 Category: Opthalmology Source Type: research

European Glaucoma Society - A guide on surgical innovation for glaucoma
Br J Ophthalmol. 2023 Dec 21;107(Suppl 1):1-114. doi: 10.1136/bjophthalmol-2023-egsguidelines.ABSTRACTPROLOGUE: Glaucoma surgery has been, for many decades now, dominated by the universal gold standard which is trabeculectomy augmented with antimetabolites. Tubes also came into the scene to complement what we use to call conventional or traditional glaucoma surgery. More recently we experienced a changing glaucoma surgery environment with the "advent" of what we have become used to calling Minimally Invasive Glaucoma Surgery (MIGS). What is the unmet need, what is the gap that these newcomers aim to fill? Hippocrates taugh...
Source: The British Journal of Ophthalmology - December 21, 2023 Category: Opthalmology Source Type: research