Staff Publication

The National Joint Registry Data Quality Audit of elbow arthroplasty (2024)

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Type of publication:

Journal article

Author(s):

Hamoodi, Zaid; Shapiro, Joanne; Sayers, Adrian; Whitehouse, Michael R; Watts, Adam C; Abbott, Jennifer; Abbott, Sarah; Adebayo, Oliver; Ahmad, Kashif; Ahrens, Philip; Akinfala, Michael; Al-Hadithy, Nawfal; Al-Najjar, Majed; Amirfeyz, Rouin; Ankarath, Sudhi; Ashton, Fiona; Aulton, Kelly; Auplish, Sunil; Austin, Jane; Ayeko, Segun; Azhar, Raja; *Bahia, Rish; Baines, Steven; Baldomir, Marisol; Barai, Sneha; Barkham, Benjamin; Barrett, Emily; Batten, Timothy; Bavan, Luckshman; Baxter, Jonathan; Beaumont, Sera; Bentley, James; Bhabra, Gev; Bhat, Mahendar; Bhatt, Ankit; Bhingraj, Mahmoud; Bhutta, Aqeel; Bingham, Samuel; Blastland, Jenny; Boardman, David; Boateng, Michael; Bojarska, Kasia; Boksh, Khalis; Booker, Simon; Borreshi, Sebastian; Bould, Michael; Boulton, Lesley; Brannan, Linda; Breidaka, Zarina; Brereton, Rachel; Brinsden, Mark; Brooker, Joanne; Brookes, Sabine; Broux, Cheryl; Brown, Elke; Browne, Jacqueline; Bryant, Richard; Buchanan, James; Buck, Lisa; Burnett, Karen; Burrows, Melanie; Burt, Jill; Burton, David; Butt, Usman; Campaner, Barry; Candal-Couto, Jaime; Carvell, Hannah; Chakravarthy, Jagannath; Chatterji, Somashree; Chaudhury, Salma; Chauhan, Govind S; Chojnowski, Adrian; Cittambalam, Janani; Clark, David; Gosia Clarke, Malgorzata; Clarke, Ben; Clelland, Andrew; Cochrane, Roz; Colbridge, Karen; Cook, Hayley; Cooper, Becky; Correa, Elizabeth; Craven, Joanna; Crawford, Jason; Curtis, Sherri; Cuthbert, Rory; Dainton, Jeremy; Dale, Lisa; Davies, Sammy; Davis, Joanne; Davis, Vicky; Dean, Ben; Dehler, Tom; Dennis, Sonu; Der Tavitian, Jacob; Desai, Aravind; Dhillon, Sukhraj S; Dias, Richard; Dickinson, Graham; Dirckx, Margo; Dixon, Oliver; Docker, Charles; *Dodenhoff, Ronald; Domos, Peter; Draviaraj, Kingsleypaul; Drew, Steven; Duff, Caroline; Duffin, Sarah; Durham, Paula; Earnshaw, Kirstie; Edakalathur, Jefin; Edwards, Michelle; Elahi, Zain; Else, Samantha; Emara, Moustafa; Eng, Khemerin; Esfandiari, Alireza; Esler, Colin; Evans, Jon; Everall, Alicia; Eyre-Brook, Alistair; Farhan-Alanie, Muhamed; Federer, Simon; Ferdinandus, Sharon; Finch, Marie; Fischer, Jochen; Flood, Catherine; Forde, Christine; Forder, Justin; Fowler, Lisa; Franklin, Marieta; Gacaferi, Hamez; Gamble, David; Garg, Sunil; *Gill, Vicki; Ginley, Jean; Glancey, Emma; Glanville, Gemma; Gmati, Aimen; Goddard, Karen; Goel, Jay; Goldsmith, Carly; Gooding, Ben; Goodwin, Fiona; Goring, Benjamin; Goude, Will; Guyver, Paul; Haines, Samuel; Haque, Aziz; Hardley, Thomas; Haritonow, Susan; Harnett, Louise; Harris, Joanna; Harris, Margaret; Harrison, Jane; Hauffe, Isabelle; Hawken, Archie; Hawkes, Dave; Hay, Stuart; Haywood, Mia; Hedge, Siddhant; Hickey, Susan; Hickinson, Anne; Higgs, Deborah; Hill, Richard; Hill, Sharyn; Hind, Jamie; Hitchcock, Maria; Holdcroft, Terry; Holdcroft, Emily; Holliday, Ann; Hudson, Siobhan; *Hughes, Hazel; Imtiaz, Rabia; Iqbal, Sheeraz; Jabr, Yamen; Jackson, Crystal; Jameson, Jackie; Jayme, Odette; Jennings, Andrew; Jenvey, Cara; Jewitt, Elizabeth; Jimenez, Andreea; Joby, John; Jones, Adrian; Jones, Neil; Jovanovic, Jadranka; Kabala, Vanessa; Kang, Niel; Kausor, Gulnaz; Kaynes, Sarah; Keane, Conal; Keen, Lauren; Kelly, Gaynor; Kent, Matthew; Kent, Jonathan; Kerr, Carla; Kerr, Julie; King, Christina; Kinnair, Anthony; Kinsley, Gemma; Konarski, Alastair; Kord, Jacqueline; Kumar, Hari; Kumar, Sachin; Lafferty, Rebecca; Lancaster, Patrick; Levitt, William; Lewin, Alexandria; Li, Yueyang; Liew, Ignatius; Yizhe Lim, Martin; Lipscombe, Stephen; Lynch, Edith; MacInnes, Scott; Madden, Paula; Maddocks, Nick; Mahajan, Ravindra; Mahoney, Rachel; Malik, Sheraz; Mannan, Syed; Maris, Alexandros; Markey, Michael; Martin, Christy; Martin, Rebecca; Masunda, Stanley; Mazis, George; Mcauliffe, Anne-Marie; McBride, Tim; McGowan, Amy; Mckeown, Nicolee; McLauchlan, George; McNally, Debbie; Melton, Joel; Miller, Jane; Millyard, Cathy; Mitchell, Claire; Mohamed, Foad; Mohamed, Abdalla; Charlotte Montgomery, Helen; Munn, Darren; Mutimer, John; Nanda, Rajesh; Neen, Daniel; Newton, Lynne; Newton, Ashley; Nicholl, Aly; Nightingale, Jessica; Ogden, Emma; Orton, Peter; Oswald, Lynda; Page, Kelly; Paius, Maria; Papanna, Madhavan; Patel, Neelam; Paul, Claudia; Peach, Chris; Pegg, Derek; Penfold, Sue; Phillips, Eleanore; Pickering, Greg; Plakogiannis, Christos; Platt, Julie; Pole, Craig; Potter, Richard; Povall, Kate; Pradhan, Riten; Prasad, Ganesh; Price, Karen; Pride, Julie; Prins, Afnan; Qazzaz, Layth; Radhakrishnan, Ajay; Ramesh, Ashwanth; Rashid, Adil; Rashid, Abbas; Rasidovic, Damir; Ratford, Emily; Rayner, Jan; *Rhee, Jae; Rice-Evans, Matthew; Ricketts, Martha; Roach, Deborah; Waters, Eve R; Robinson, Simon; Robinson, Paul; Rodgers, Samantha; Rogers, Emma; Rooney, Aaron; Rossouw, Dan; Roy, Bibhas; Sadiqi, Maseh; Sagmeister, Markus; Samy, David; Sanders, Paige; Sanderson, Kelly; Sandher, Dilraj; Sargazi, Nastaran; Saunders, Mark; Saunders, Nicky; Savage, Kim; Sawalha, Seif; Schouw, Melissa; Scott,   Gareth; Selzer, Gunther; Sepesiova, Lucia; Shah, Sohan; Shahane, Shantanu;   Shaw, Grant; Shrestha, Suzani; Shutt, John; Siddiqui, Nashat; Sidharthan, Sijin; Simons, Adrian; Simpson, Vera; Sinclair, Pierre; Siney, Paul; Singh, Jagwant; Singh, Bijayendra; Singh, Harvinder; Sinha, Apurv; Smith, Callum; Smith, Christopher; Smith, Kerry; Somanchi, Brinda; Soufan, Muhab; Southgate, Cynthia; Southgate, Jeremy; Spearpoint, Nicola; Stainer, Rebecca; Stevens, Richard; Stimler, Batya; Stone, Andrew; Suter, Danielle; Talbot, Charlie; Tareef, Tareq; Theivendran, Kanthan; Thomas, Beverely; Thomas, William; Thompson, Andrew; Thompson, Jackie; Thornhill, Elizabeth; Titchener, Andrew; Townley, Michael; Tozer, Tina; Truman, Jennie; Truss, Adam; *Turner, Rob; Van Rensburg, Lee; Venugopal, Vinayak; Vollans, Sam; Waller, Louise; Walsh, Anna; Waraich, Aleena; Wei, Nicholas; James White, William; Wilkinson, Mark; Williams, Daniel; Williams, Philip; Williams, Nicola; Wilson, Stephanie; Wood, David; Yadu, Shirley; Yarashi, Tejas; Zeolla, Julian; Zreik, Nasri H; Ollivere, Ben.

Citation:

Bone & Joint Journal. 106-B(12):1461-1468, 2024 Dec 01.

Abstract:

Aims: The aim of this audit was to assess and improve the completeness and accuracy of the National Joint Registry (NJR) dataset for arthroplasty of the elbow.

Methods: It was performed in two phases. In Phase 1, the completeness was assessed by comparing the NJR elbow dataset with the NHS England Hospital Episode Statistics (HES) data between April 2012 and April 2020. In order to assess the accuracy of the data, the components of each arthroplasty recorded in the NJR were compared to the type of arthroplasty which was recorded. In Phase 2, a national collaborative audit was undertaken to evaluate the reasons for unmatched data, add missing arthroplasties, and evaluate the reasons for the recording of inaccurate arthroplasties and
correct them.

Results: Phase 1 identified 5,539 arthroplasties in HES which did not match an arthroplasty on the NJR, and 448 inaccurate arthroplasties from 254 hospitals. Most mismatched procedures (3,960 procedures; 71%) were radial head arthroplasties (RHAs). In Phase 2, 142 NHS hospitals with 3,640 (66%) mismatched and 314 (69%) inaccurate arthroplasties volunteered to assess their records. A large proportion of the unmatched data (3,000 arthroplasties; 82%) were confirmed as being missing from the NJR. The overall rate of completeness of the NJR elbow dataset improved from 63% to 83% following phase 2, and the completeness of total elbow arthroplasty data improved to 93%. Missing RHAs had the biggest impact on the overall completeness, but through the audit the number of RHAs in the NJR nearly doubled and completeness increased from 35% to 70%. The accuracy of data was 94% and improved to 98% after correcting 212 of the 448 inaccurately recorded arthroplasties.

Conclusion: The rate of completeness of the NJR total elbow arthroplasty dataset is currently 93% and the accuracy is 98%. This audit identified challenges of data capture with regard to RHAs. Collaboration with a
trauma and orthopaedic trainees through the British Orthopaedic Trainee Association improved the completeness and accuracy of the NJR elbow dataset, which will improve the validity of the reports and of the associated research.

Labelling of Fluids in the Sterile Field During Orthopaedic Surgery: A Quality Improvement Initiative (2024)

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Type of publication:

Journal article

Author(s):

Sweetman, Benedict; *Younis, Zubair; Khan, Sarfraz; Amin, Jebran; Mohammed, Ghulam Dastagir Faisal; Jones, Ellen Ellysia; Lemaigre, Charlotte; Pydah, Satya.

Citation:

Cureus. 16(10):e72250, 2024 Oct.

Abstract:

Background Intraoperative safety protocols, including proper labelling of syringes, are critical to patient safety in surgical settings. While the Royal Pharmaceutical Society and the Royal College of Anaesthetists provide clear guidelines to prevent medication errors, ensuring consistent compliance with labelling protocols in the fast-paced and complex environment of orthopaedic surgery can still present practical challenges. The absence of proper labelling, combined with the use of multiple fluids such as normal saline, disinfectants, and local anaesthetics, increases the risk of adverse outcomes due to fluid misidentification. This quality improvement project aimed to assess current labelling practices in a district general hospital, identify barriers to compliance, and develop a cost-effective solution. Methodology The project was conducted in three orthopaedic theatres over two audit cycles. During the first audit cycle, 30 procedures were observed to assess compliance with labelling guidelines. Compliance was defined as the labelling of all syringes containing fluids present in the sterile field. Following this, an intervention was introduced, using surgical marker pens and sterile stickers for fluid labelling, along with a mandatory "tactical pause and check" and an awareness campaign. Two months later, a second audit of 34 procedures was conducted to evaluate the effectiveness of the intervention. Results In the first audit cycle, only three out of 30 procedures (10%) were compliant with labelling guidelines. Following the intervention, compliance increased dramatically to 32 out of 34 procedures (94%). The results were statistically significant (p < 0.05) as determined by Fisher's exact test. The use of sterile stickers and marker pens proved to be a simple and cost-effective solution that did not interfere with the sterile environment or increase costs. Conclusions This study demonstrates that a low-cost intervention using sterile stickers and surgical marker pens can significantly improve compliance with fluid labelling guidelines in orthopaedic surgery, thereby enhancing patient safety. While the intervention was successful, future research should explore more sustainable solutions, such as pre-printed sterile labels, and evaluate the long-term impact of such interventions across various surgical settings. Continuous education and regular audits will be essential in maintaining high compliance rates.

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Bilateral autologous penetrating keratoplasty following periorbital necrotising fasciitis (2024)

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Type of publication:

Journal article

Author(s):

*Khan, Attam; *Baker, Diya; Husain, Syed; *Jenyon, Tom.

Citation:

BMJ Case Reports. 17(11), 2024 Nov 24.

Abstract:

The case report describes a rare instance of a man in his 70s with periorbital necrotising fasciitis (NF) who underwent bilateral autologous penetrating keratoplasty. NF is an acute infection that can lead to severe complications, including vision loss. The patient presented with severe facial swelling and necrosis of the right eyelid, treated with surgical debridement and antibiotics. Post-surgery, he lost vision in the right eye due to compressive optic neuropathy and developed exposure keratopathy, which was managed with tarsorrhaphy. His left eye had poor vision due to herpetic corneal scarring. He met the criteria for a bilateral autologous keratoplasty, transferring his healthy right cornea to his otherwise healthy left eye and the damaged left cornea to the right eye. The surgery was successful, and at 9 months post-operation, the patient achieved improved vision (6/36) and is awaiting contact lens fitting. The report highlights the advantages and considerations of autokeratoplasty over conventional corneal transplants.

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Environmental and financial impacts of perioperative paracetamol use: a multicentre international life-cycle assessment (2024)

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Type of publication:

Journal article

Author(s):

Davies J.F.; McAlister S.; Eckelman M.J.; McGain F.; Seglenieks R.; Gutman E.N.; Groome J.; Palipane N.; Latoff K.; Nielsen D.; Sherman J.D.; Patel P.; Wong T.; Harknett E.; Wong S.; Watson S.; Gemmell-Smith M.; Laing S.; Cooper I.; Bakogianis A.; Nasteka A.; Hay J.; Taylor-Smith R.; Reilly S.; Wallace C.; Mills L.; Pinder A.; Back M.; *Damm E.; *Goudie C.; Wong J.; Wilkinson A.; Mohamed A.; Silk E.; Mitchard M.; Qureshi N.; Shatananda L.; George D.; Davenport T.; Skingle A.; Cooper M.; Sharif S.; Harding K.; O'Docherty A.; Hawkins T.; Pooley S.; Myo J.; Hamid H.K.S.; Davis G.

Citation:

British Journal of Anaesthesia. 133(6) (pp 1439-1448), 2024. Date of Publication: December 2024.

Abstract:

Background: Pharmaceuticals account for 19-32% of healthcare greenhouse gas (GHG) emissions. Paracetamol is a common perioperative analgesic agent. We estimated GHG emissions associated with i.v. and oral formulations of paracetamol used in the perioperative period. Method(s): Life-cycle assessment of GHG emissions (expressed as carbon dioxide equivalents CO2e) of i.v. and oral paracetamol preparations was performed. Perioperative paracetamol prescribing practices and costs for 26 hospitals in USA, UK, and Australia were retrospectively audited. For those surgical patients for whom oral formulations were indicated, CO2e and costs of actual prescribing practices for i.v. or oral doses were compared with optimal oral prescribing. Result(s): The carbon footprint for a 1 g dose was 38 g CO2e (oral tablet), 151 g CO2e (oral liquid), and 310-628 g CO2e (i.v. dependent on type of packaging and administration supplies). Of the eligible USA patients, 37% received paracetamol (67% was i.v.). Of the eligible UK patients, 85% received paracetamol (80% was i.v.). Of the eligible Australian patients, 66% received paracetamol (70% was i.v.). If the emissions mitigation opportunity from substituting oral tablets for i.v. paracetamol is extrapolated to USA, UK, and Australia elective surgical encounters in 2019, ~5.7 kt CO2e could have been avoided and would save 98.3% of financial costs. Conclusion(s): Intravenous paracetamol has 12-fold greater life-cycle carbon emissions than the oral tablet form. Glass vials have higher greenhouse gas emissions than plastic vials. Intravenous administration should be reserved for cases in which oral formulations are not feasible.

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Ambulatory management of acute uncomplicated diverticulitis (AmbUDiv study): a multicentre, propensity score matching study (2024)

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Type of publication:

Journal article

Author(s):

Mohamedahmed, Ali Yasen; Hamid, Mohammed; Issa, Mohamed; Albendary, Mohamed; *Sultana, Emiko; Zaman, Shafquat; Bhandari, Santosh; Sarma, Diwakar; *Ball, William; Thomas, Pradeep; Husain, Najam.

Citation:

International Journal of Colorectal Disease. 39(1):184, 2024 Nov 18.

Abstract:

INTRODUCTION: Recent studies have suggested that ambulatory management is feasible for acute uncomplicated diverticulitis (AUD); however, there is still no consensus regarding the most appropriate management settings. This study presents a multi-centre experience of managing patients presenting with AUD, specifically focusing on clinical outcomes and comparing ambulatory treatment with in-patient management.

METHODS: A retrospective multi-centre study was conducted across four hospitals in the UK and included all adult patients with computed tomography (CT) confirmed (Hinchey grade 1a) acute diverticulitis over a
12-month period (January – December 2022). Patient medical records were followed up for 1-year post-index episode, and outcomes were compared between those treated through the ambulatory pathway versus inpatient treatment using 1:1 propensity score matching (PSM). All statistical analysis was performed using the R Foundation for Statistical Computing, version 4.4.

RESULTS: A total of 348 patients with Hinchey 1a acute diverticulitis were included (260 in-patients; 88 ambulatory pathway), of which nearly a third (31.3%) had a recurrent disease. Inpatient management was dominant (74.7%), with a median of 3 days of hospital stay. PSM resulted in 172 patients equally divided between the two care settings. Ambulatory management was associated with a lower readmission rate (P = 0.02 before PSM, P = 0.08 after PSM), comparable surgical (P = 0.57 before PSM, 0% in both groups after PSM) and radiological interventions (P = 0.99 before and after PSM) within one year. In both matched and non-matched groups, a strong association between readmissions and inpatient management was noted in univariate analysis (P = 0.03 before PSM, P = 0.04 after PSM) and multivariate analysis (P = 0.02 before PSM, P = 0.03 after PSM).

CONCLUSION: Our study supports the safety and efficacy of managing patients with AUD through a well-designed ambulatory care pathway. In particular, hospital re-admission rates are lower and other outcomes are non-inferior to in-patient treatment. This has implications for substantial cost-savings and better utilisation of limited healthcare resources.

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An overview of cell salvage in orthopaedic hip and knee arthroplasty surgery (2024)

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Type of publication:

Journal article

Author(s):

*Patel, Ravi; Golding, Steven; Nandra, Rajpal; Banerjee, Robin.

Citation:

Journal of Perioperative Practice. 2024 Nov 12.[epub ahead of print]

Abstract:

Blood management is a critical aspect of patient care during surgical procedures. In the United Kingdom, there is a growing recognition of the need to integrate intraoperative cell salvage into blood management protocols, especially for invasive surgeries where significant blood loss is anticipated. While donated blood (allogeneic blood) is traditionally used in such cases, it carries risks and potential complications. Consequently, intraoperative cell salvage presents itself as an appealing alternative, particularly in hip and knee arthroplasty procedures. Intraoperative cell salvage involves the collection and reinfusion of a patient's own blood (autologous blood) lost during surgery. Studies have consistently shown that autologous blood collected via intraoperative cell salvage has fewer complications and greater benefits compared to donated blood. However, despite these advantages, the widespread adoption of intraoperative cell salvage in UK hospitals remains limited, primarily due to associated costs. While the integration of intraoperative cell salvage into blood management services may incur initial expenses, research suggests that it could ultimately prove to be cost-effective. This is because improved patient outcomes associated with intraoperative cell salvage may lead to reduced postoperative complications and shorter hospital stays. Thus, there is a growing imperative to overcome financial barriers and promote the implementation of intraopertive cell salvage as a standard practice in perioperative care across UK health care settings. The purpose of this scoping literature review is to consolidate the available information on the current use of intraoperative cell salvage and to identify intraoperative cell salvage techniques and devices described for use in an arthroplasty setting.

A systematic review of ultrasonography-guided transcutaneous fine needle aspiration cytology in the diagnosis of laryngeal malignancy (2024)

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Type of publication:

Journal article

Author(s):

Ahmed, A; *Yang, D; *Eastwood, M; *Saunders, T; *Ahsan, S F.

Citation:

Annals of the Royal College of Surgeons of England. 2024 Nov 15.

Abstract:

INTRODUCTION: Direct laryngoscopy and biopsy is the gold standard for obtaining a tissue diagnosis in patients with suspected laryngeal cancer. In patients with advanced disease or other medical comorbidities, this may come with significant anaesthetic risks, including tracheostomy. Ultrasonography-guided biopsy has been widely used in the diagnosis of malignancy involving cervical lymph nodes but it is not commonly employed in the diagnosis of laryngeal tumours. A systematic review was undertaken to assess the literature looking at whether ultrasonography-guided transcutaneous fine needle aspiration cytology (FNAC) is an adequate method in diagnosing laryngeal malignancy.

METHODS: Two independent researchers conducted a systematic review of the literature using the MEDLINE and Cochrane Library databases in accordance with the PRISMA (Preferred Reporting Items for Systematic reviews and Meta-Analyses) guidelines.

RESULTS: A total of 568 studies were identified from the search, of which 3 met the inclusion criteria, resulting in 162 patient episodes. The pooled accuracy of transcutaneous FNAC in acquiring a sample adequate for histological diagnosis was 74.9%. Data on complications were limited, with a few cases of mild haemoptysis being recorded.

CONCLUSIONS: Transcutaneous FNAC can be considered a safe and quick method for establishing a histological diagnosis of laryngeal lesions, particularly in patients who may be severely comorbid, and it could therefore could reduce the risks of general anaesthesia and tracheostomy prior to commencing definitive treatment.

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Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease (2024)

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Type of publication:

Journal article

Author(s):

Fang Z.-H.; Tan M.M.X.; Schmaderer T.M.; Stafford E.J.; Pollard M.; Tilney R.; Hodgson M.; Wu L.; Labrum R.; Hehir J.; Polke J.; Lange L.M.; Schapira A.H.V.; Bhatia K.P.; Hartley L.; Nacorda A.; Gentilini I.; Wales E.; Amar K.; Tuck S.; Raw J.; Crouch R.; Walker R.; Hand A.; Strens L.; Sveinbjornsdottir S.; Webster G.; Williams S.; Schrag A.; Nath U.; Mann C.; D'Costa D.; Barnes C.; Jones E.; Slaght S.J.; Wiblin L.; Archibald N.; *Capps E.; Jones S.; Sophia R.; Vickers C.; Dean S.; Truscott R.; Sheridan R.; Brierley C.; Kunc M.; Funaki A.; Asad S.; Tai Y.; Chaudhuri R.; Guptha S.; Cosgrove J.; Misbahuddin A.; Padiachy D.; Paviour D.; Bandmann O.; Buccoliero R.; Wickremaratchi M.; Gregory R.; Molloy S.; Shaik S.; Arianayagam S.; Saifee T.; Wakeman E.; Towns C.; Jasaityte S.; Jarman P.R.; Singleton A.B.; Blauwendraat C.; Klein C.; Houlden H.; Wood N.W.; Morris H.R.; Real R.

Citation:

npj Parkinson's Disease. 10(1) (no pagination), 2024. Article Number: 188. Date of Publication: December 2024.

Abstract:

The Parkinson's Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson's disease (PD). We recruited individuals with a clinical diagnosis of PD and age at motor symptom onset <=45 years and/or a family history of PD in up to third-degree relatives. Where possible, we also recruited affected and unaffected relatives. We analysed DNA samples with a combination of single nucleotide polymorphism (SNP) array genotyping, multiplex ligation-dependent probe amplification (MLPA), and whole-genome sequencing (WGS). We investigated the association between identified pathogenic mutations and demographic and clinical factors such as age at motor symptom onset, family history, motor symptoms (MDS-UPDRS) and cognitive performance (MoCA). We performed baseline genetic analysis in 718 families, of which 205 had sporadic early-onset PD (sEOPD), 113 had familial early-onset PD (fEOPD), and 400 had late-onset familial PD (fLOPD). 69 (9.6%) of these families carried pathogenic variants in known monogenic PD-related genes. The rate of a molecular diagnosis increased to 28.1% in PD with motor onset <=35 years. We identified pathogenic variants in LRRK2 in 4.2% of families, and biallelic pathogenic variants in PRKN in 3.6% of families. We also identified two families with SNCA duplications and three families with a pathogenic repeat expansion in ATXN2, as well as single families with pathogenic variants in VCP, PINK1, PNPLA6, PLA2G6, SPG7, GCH1, and RAB32. An additional 73 (10.2%) families were carriers of at least one pathogenic or risk GBA1 variant. Most early-onset and familial PD cases do not have a known genetic cause, indicating that there are likely to be further monogenic causes for PD.

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An evaluation of autonomic and gastrointestinal symptoms, and gastric emptying, in patients with systemic sclerosis (2024)

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Type of publication:

Journal article

Author(s):

Hughes M.; *Harrison E.; Herrick A.L.; Lal S.; McLaughlin J.T.

Citation:

Journal of Scleroderma and Related Disorders. (no pagination), 2024. Date of Publication: 2024.

Abstract:

Objective: Assessment of gastrointestinal and autonomic symptoms in patients with systemic sclerosis, and possible associations with gastric emptying rate. Method(s): Participant and patient disease-related characteristics were collected. Gastrointestinal and autonomic symptoms were assessed by the UCLA-SCTC GIT 2.0 and COMPASS-31 questionnaires, respectively. Potentially confounding gastrointestinal medications were discontinued where possible. Gastric emptying was assessed using a non-radioactive <sup>13</sup>C sodium acetate isotope, end-expiratory breath samples collected at baseline and then serial timepoints up to 120 min. Result(s): In total, 49 participants were studied: 17 with systemic sclerosis with variable gastrointestinal involvement, and healthy matched (n = 17) and non-matched controls (n = 15), the last to control for the impact of age rather than disease on gastric emptying and autonomic function. The total mean (range) UCLA GIT 2.0 questionnaire for patients with systemic sclerosis was 0.63 (0.0-1.5) and for both healthy matched and non-matched controls was 0.04 (0.0-0.2), and was higher in patients with systemic sclerosis across all domains. The total mean (range) COMPASS-31 score for patients with systemic sclerosis patients was 32.2 (0.0-54.9) and for healthy matched- and non-matched controls: 7.45 (0.0-24.9) and 4.25 (0.0-2.1), respectively, again higher for patients with systemic sclerosis across all domains. No association was observed between patients' UCLA GIT 2.0 total score (s = -0.039, p = 0.38), total COMPASS 31 score (s = -0.108, p = 0.68), or COMPASS-31 GI domain (s = -0.051, p = 0.85) and gastric emptying rates. Conclusion(s): Gastrointestinal and autonomic symptoms are overrepresented in patients with systemic sclerosis but did not associate with gastric emptying rates.

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Fear of reinjury after acute Achilles tendon rupture is related to poorer recovery and lower physical activity postinjury (2024)

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Type of publication:

Journal article

Author(s):

Larsson, Elin; LeGreves, Agnes; Brorsson, Annelie; Eliasson, Pernilla; Johansson, Christer; *Carmont, Michael R; Nilsson Helander, Katarina.

Citation:

Journal of Experimental Orthopaedics. 11(4):e70077, 2024 Oct.

Abstract:

Purpose: The aim of this study was to investigate how fear of reinjury to the Achilles tendon affects return to previous levels of physical activity and self-reported Achilles tendon Total Rupture Score (ATRS) outcomes.

Methods: Data were collected from a large cohort of patients treated for an acute Achilles tendon rupture at Sahlgrenska University Hospital Molndal between 2015 and 2020. The ATRS and additional questions concerning fear of reinjury, treatment modality, satisfaction of treatment and recovery were analyzed 1-6 years postinjury. Analysis was performed to determine the impact of fear of reinjury on patient-reported recovery and physical activity.

Results: Of a total of 856 eligible patients, 550 (64%) answered the self-reported questionnaire and participated in the follow-up. Of the participants, 425 (77%) were men and 125 (23%) were women. ATRS, recovery in percentage, satisfaction of treatment, recovery on a 5-point scale and physical activity level post- versus preinjury were significantly related to fear of reinjury (p < 0.001). Of the nonsurgically treated patients, 59% reported fear of reinjury compared to 48% of the surgically treated patients (p = 0.024) Patients that reported fear of reinjury had a 15-point lower median ATRS score than those who did not (p < 0.001).

Conclusion: More than half of patients who have suffered an Achilles tendon rupture are afraid of reinjuring their tendon. Patients who reported fear of reinjury exhibited a significantly lower ATRS score. This indicates the importance of addressing psychological aspects in the treatment after this injury.

Level of Evidence: Level II.

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