National Institute for Health Research (NIHR) Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease
CONCLUSIONS: We demonstrated that TBX4 syndrome is not strictly the result of haploinsufficiency but can also be caused by gain-of-function. The pleiotropic effects of TBX4 in lung disease may be in part explained by the differential effect of pathogenic mutations located in critical protein domains. This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License 4.0 (http://creativecommons.org/licenses/by-nc-nd/4.0/).PMID:35852389 | DOI:10.1164/rccm.202203-0485OC (Source: Respiratory Care)
Source: Respiratory Care - July 19, 2022 Category: Respiratory Medicine Authors: Matina Prapa Mauro Lago-Docampo Emilia M Swietlik David Montani M élanie Eyries Marc Humbert Carrie C L Welch Wendy Chung Rolf M F Berger Ham Jan Bogaard Olivier Danhaive Pilar Escribano-Sub ías Henning Gall Barbara Girerd Ignacio Hernandez-Gonzalez Sim Source Type: research

First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease
CONCLUSIONS: We demonstrated that TBX4 syndrome is not strictly the result of haploinsufficiency but can also be caused by gain-of-function. The pleiotropic effects of TBX4 in lung disease may be in part explained by the differential effect of pathogenic mutations located in critical protein domains. This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License 4.0 (http://creativecommons.org/licenses/by-nc-nd/4.0/).PMID:35852389 | DOI:10.1164/rccm.202203-0485OC (Source: Am J Respir Crit Car...)
Source: Am J Respir Crit Car... - July 19, 2022 Category: Intensive Care Authors: Matina Prapa Mauro Lago-Docampo Emilia M Swietlik David Montani M élanie Eyries Marc Humbert Carrie C L Welch Wendy Chung Rolf M F Berger Ham Jan Bogaard Olivier Danhaive Pilar Escribano-Sub ías Henning Gall Barbara Girerd Ignacio Hernandez-Gonzalez Sim Source Type: research

Providing men at risk of suicide with emotional support and advice with employment, housing and financial difficulties: a qualitative evaluation of the Hope service
. (Source: Journal of Mental Health)
Source: Journal of Mental Health - July 13, 2022 Category: Psychiatry Authors: Michelle FarrLoubaba MamlukJoni JacksonMaria Theresa RedanielMarina O ’BrienRebecca MorganChristian CostelloJez SpencerJonathan Banksa The National Institute for Health and Care Research Applied Research Collaboration West (NIHR ARC West) at University Source Type: research

Model parameters influencing the cost-effectiveness of sacubitril/valsartan in heart failure: evidence from a systematic literature review
ConclusionsMost evidence indicated sacubitril/valsartan is cost-effective in HFrEF. The use of a lifetime horizon is recommended in future models as HF is a chronic disease. Data on the CE of sacubitril/valsartan in the inpatient setting were limited and further research is warranted. (Source: The European Journal of Health Economics)
Source: The European Journal of Health Economics - July 5, 2022 Category: Health Management Source Type: research

HTA2 RAPID C-19: Achievements and Challenges of a Collaborative Response to the COVID-19 Pandemic in the UK
This review explores the achievements and challenges of the research to access pathway for investigational drugs for COVID-19 (RAPID C-19). This UK multi-agency initiative includes the National Institute for Health and Care Excellence (NICE), the National Institute for Health Research (NIHR), the Medicines and Healthcare products Regulatory Agency, NHS England and NHS Improvement and the Devolved Administrations. It aims to get effective treatments for COVID-19 to patients quickly and safely. (Source: Value in Health)
Source: Value in Health - June 26, 2022 Category: International Medicine & Public Health Authors: A Greenwood, A Brett, N Umeweni, S Upadhyaya Source Type: research

Early-phase clinical trials in a pandemic: learning from the response to COVID-19
Lancet Respir Med. 2022 Jun 13:S2213-2600(22)00062-5. doi: 10.1016/S2213-2600(22)00062-5. Online ahead of print.NO ABSTRACTPMID:35709826 | DOI:10.1016/S2213-2600(22)00062-5 (Source: Respiratory Care)
Source: Respiratory Care - June 16, 2022 Category: Respiratory Medicine Authors: Alex Horsley Chris Brightling Jane Davies Ratko Djukanovic Liam G Heaney Tracy Hussell Stefan J Marciniak Lorcan McGarvey Joanna C Porter Thomas Wilkinson Ling-Pei Ho NIHR Respiratory Translational Research Collaboration network Source Type: research

Understanding patient views and experiences of the IDENTIfication of PALLiative care needs (IDENTI-Pall): a qualitative interview study protocol
Introduction More people are living with multimorbidity, defined as two or more long-term physical or mental health conditions. Multimorbidity is associated with poor quality of life and high treatment burden. Palliative care identification tools have been developed for use in primary care to seek out patients who could benefit from a palliative approach to their care. There has been little evaluative research on such tools; patient perspectives on the process of identifying their palliative care needs is a significant gap. The aim of this research is to provide new understanding into patient perspectives of the experience...
Source: BMJ Open - June 13, 2022 Category: General Medicine Authors: Mitchell, S., Leach, I., Turner, N., Mayland, C. R. Tags: Open access, Palliative care Source Type: research

Evaluating Metacognitive Therapy to Improve Treatment of Anxiety and Depression in Cardiovascular Disease: The NIHR Funded PATHWAY Research Programme
ConclusionThere is a need to better meet the psychological needs of CR patients. Embedding MCT into CR demonstrated high acceptability and improved efficacy on psychological outcomes. Results support roll-out of MCT in CR with evaluation of national implementation.RegistrationURL: NCT02420431; ISRCTN74643496; NCT03129282. (Source: Frontiers in Psychiatry)
Source: Frontiers in Psychiatry - June 3, 2022 Category: Psychiatry Source Type: research

Does weight management research for adults with severe obesity represent them? Analysis of systematic review data
Discussion Although we were limited by poor trial reporting, our results indicate inadequate representation of people most at risk of obesity. Guidance for considering underserved groups may improve the appropriateness of research and inform greater engagement with health and social care services. Funding National Institute for Health Research Health Technology Assessment Programme (project number: 15/09/04). PROSPERO registration number CRD42016040190. (Source: BMJ Open)
Source: BMJ Open - May 31, 2022 Category: General Medicine Authors: Robertson, C., Aceves-Martins, M., Cruickshank, M., Imamura, M., Avenell, A. Tags: Open access, Health services research Source Type: research

144 Investigating the molecular mechanisms of mutant C9orf72 human iPSC- derived astrocyte-mediated motor neuron deficits
Amyotrophic Lateral Sclerosis (ALS) is a progressive, incurable and invariably fatal neurodegenerative condition characterised by loss of motor neurons. Over the last two decades, there are multiple lines of evidence from pathology, genetics and experimental systems that implicate a central role for non- neuronal cells, astrocytes in particular, with ALS pathogenesis. This is not surprising given the intimate structural and functional association of astrocytes with, inter alia, the synapse and vasculature. Yet, the nature of this astrocyte-neuronal crosstalk remains understudied. Harnessing the power of genetic dis- coveri...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Stavrou, M., Selvaraj, B., Bolado, A., James, L., Neil, C., Margaret, F., Hardingham, G., Chandran, S. Tags: Live Poster, 13 May Poster Session 2 Source Type: research

137 Outcome measures in CMT: case examples from the muscle MRI in CMT study
We present three cases illustrating key points from the study and demonstrate an increase in FF at 12 months in one patient each with CMT1X and CMT2A, and over 10 years in a patient with CMT1B. carolynnedoherty@doctors.org.uk|NIHR Bursary (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Doherty, C., Zuccarino, R., Howard, P., McDowell, A., Wastling, S., Laura, M., Thedens, D., Thornton, J., Shy, M., Reilly, M. Tags: Live Poster, 13 May Poster Session 2 Source Type: research

135 CMT with renal impairment: consider a dip
We describe two patients from our neuropathy cohort who have CMT with slowed conduc- tion velocities (CV) and renal involvement and discuss the importance of urine dipstick testing in those without a genetic diagnosis. Cases: A 19-year-old had deterioration in his running aged 3, required foot surgery aged 10 and scoliosis surgery aged 15. Distal atrophy and weakness with large fibre sensory impairment was evident. At age 12, neurophysiology demonstrated absent SAPs, reduced CMAPs and MCVs of 10–18m/s. Urine dipstick showed proteinuria. Whole genome sequencing demonstrated a previously described p.Cys104Tyr INF-2 mut...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Doherty, C., Blake, J., Skorupinska, M., Shah, S., Laura, M., Reilly, M. Tags: Live Poster, 13 May Poster Session 2 Source Type: research

136 Coincidential hydrocephalus in twins with CMT1X
Discussion Despite the finding of hydrocephalus in both affected twins, further family evaluation confirmed the hydrocephalous not to segregate with the GJB1 mutation. This highlights the importance of detailed phenotype segregation studies before diagnosing an atypical phenotype with genetic diseases. Alterna- tive genetic causes for the hydrocephalus are being sought. 1) Vivekanandam V, Hoskote C, Rossor AM, Reilly MM. CNS phenotype in X linked Charcot- Marie-Tooth disease. J Neurol Neurosurg Psychiatry 2018 Dec 5;90(9). carolynnedoherty@doctors.org.uk|NIHR Bursary 93 (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Doherty, C., Pipis, M., Hosktote, C., Rossor, A., Reilly, M. Tags: Live Poster, 13 May Poster Session 2 Source Type: research