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Platelet-Rich Plasma Versus Corticosteroid Injections for Chronic Tendinopathies: A Systematic Review and Meta-Analysis
No full textChronic tendinopathy is a degenerative condition characterized by persistent pain, functional limitations, and tendon thickening, often resulting from repetitive overuse or failed tendon healing. Left untreated, it can progress to tendon rupture, prolonged disability, and impaired quality of life. Management typically includes conservative therapies, such as physical therapy, corticosteroid (CS) injections for short-term relief, and platelet-rich plasma (PRP) as a regenerative therapy with potential long-term benefits. This systematic review and meta-analysis evaluates and compares the effectiveness of PRP and CS injections for chronic tendinopathies regarding pain reduction, functional improvement, and long-term outcomes. A structured search of PubMed, Scopus, Google Scholar, and the Cochrane Library identified randomized controlled trials (RCTs) and comparative studies. Primary outcomes included pain reduction and functional improvement while secondary outcomes assessed heterogeneity and publication bias. PRP and CS injections demonstrated no significant difference in short-term pain reduction. Functional outcomes were comparable in the short term but showed a trend favoring PRP at longer follow-up periods. PRP exhibited a slight advantage in long-term functional recovery, though the results were not statistically significant. Substantial heterogeneity across studies highlights the need for standardized protocols and larger trials to confirm these findings and optimize treatment strategies.This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0., which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.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
Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families
No full textBACKGROUND: Hereditary Spastic Paraplegias (HSPs) and Hereditary Cerebellar Ataxias (HCAs) are progressive neurodegenerative disorders encompassing a spectrum of neurogenetic conditions with significant overlaps of clinical features. Spastic ataxias are a group of conditions that have features of both cerebellar ataxia and spasticity, and these conditions are frequently clinically challenging to distinguish. Accurate genetic diagnosis is crucial but challenging, particularly in resource-limited settings. This study aims to investigate the genetic basis of HSPs and HCAs in Pakistani families. METHODS: Families from Khyber Pakhtunkhwa with at least two members showing HSP or HCA phenotypes, and who had not previously been analyzed genetically, were included. Families were referred for genetic analysis by local neurologists based on the proband's clinical features and signs of a potential genetic neurodegenerative disorder. Whole Exome Sequencing (WES) and Sanger sequencing were then used to identify and validate genetic variants, and to analyze variant segregation within families to determine inheritance patterns. The mean age of onset and standard deviation were calculated to assess variability among affected individuals, and the success rate was compared with literature reports using differences in proportions and Cohen's h. RESULTS: Pathogenic variants associated with these conditions were identified in five of eight families, segregating according to autosomal recessive inheritance. These variants included previously reported SACS c.2182 C > T, p.(Arg728*), FA2H c.159_176del, p.(Arg53_Ile58del) and SPG11 c.2146 C > T, p.(Gln716*) variants, and two previously unreported variants in SACS c.2229del, p.(Phe743Leufs*8) and ZFYVE26 c.1926_1941del, p.(Tyr643Metfs*2). Additionally, FA2H and SPG11 variants were found to have recurrent occurrences, suggesting a potential founder effect within the Pakistani population. Onset age among affected individuals ranged from 1 to 14 years (M = 6.23, SD = 3.96). The diagnostic success rate was 62.5%, with moderate effect sizes compared to previous studies. CONCLUSIONS: The findings of this study expand the genotypic and phenotypic spectrum of HSPs and HCAs in Pakistan and emphasize the importance of utilizing exome/genome sequencing for accurate diagnosis or support accurate differential diagnosis. This approach can improve genetic counseling and clinical management, addressing the challenges of diagnosing neurodegenerative disorders in resource-limited settings.This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/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
Genetic, epigenetic and environmental factors in diverticular disease: systematic review
No full textBACKGROUND: Diverticulosis is a normal anatomical variant of the colon present in more than 70% of the westernized population over the age of 80. Approximately 3% will develop diverticulitis in their lifetime. Many patients present emergently, suffer high morbidity rates and require substantial healthcare resources. Diverticulosis is the most common finding at colonoscopy and has the potential for causing a significant morbidity rate and burden on healthcare. There is a need to better understand the aetiology and pathogenesis of diverticular disease. Research suggests a genetic susceptibility of 40-50% in the formation of diverticular disease. The aim of this review is to present the hypothesized functional effects of the identified gene loci and environmental factors. METHODS: A systematic literature review was performed using PubMed, MEDLINE and Embase. Medical subject headings terms used were: 'diverticular disease, diverticulosis, diverticulitis, genomics, genetics and epigenetics'. A review of grey literature identified environmental factors. RESULTS: Of 995 articles identified, 59 articles met the inclusion criteria. Age, obesity and smoking are strongly associated environmental risk factors. Intrinsic factors of the colonic wall are associated with the presence of diverticula. Genetic pathways of interest and environmental risk factors were identified. The COLQ, FAM155A, PHGR1, ARHGAP15, S100A10, and TNFSF15 genes are the strongest candidates for further research. CONCLUSION: There is increasing evidence to support the role of genomics in the spectrum of diverticular disease. Genomic, epigenetic and omic research with demographic context will help improve the understanding and management of this complex disease.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
Efficacy and Safety of Cardiac Myosin Inhibitors in Hypertrophic Cardiomyopathy: A Meta-Analysis of Randomized Controlled Trials
No full textHypertrophic cardiomyopathy (HCM) is a genetic cardiac disorder characterized by structural and functional abnormalities. Current management strategies, such as medications and septal reduction therapies, have significant limitations and risks. Recently, cardiac myosin inhibitors (CMIs) like mavacamten and aficamten have shown promise as noninvasive treatment options. This meta-analysis aims to evaluate the efficacy and safety of CMIs in HCM patients. PubMed/MEDLINE, Embase, the Cochrane Library, Ovid, and ClinicalTrials.gov were searched for randomized controlled trials (RCTs) that compared CMIs to control treatments in HCM patients from inception till June 15, 2024. A random-effects model was used to pool odds ratios (ORs) for dichotomous outcomes and mean differences (MDs) for continuous outcomes along with the corresponding 95% confidence intervals (CIs). Heterogeneity was assessed using the χ2 test and Higgins I2 statistic, and sensitivity and subgroup analyses were performed. Six RCTs involving 826 patients were included. CMI therapy significantly reduced resting left ventricular outflow tract (LVOT) gradient (MD, -37.64; 95% CI, -46.71 to -28.56), Valsalva LVOT gradient (MD, -46.04; 95% CI, -57.60 to -34.48), post-exercise LVOT peak gradient (MD, -48.64; 95% CI, -68.20 to -28.88), N-terminal pro-b-type natriuretic peptide levels (MD, -1.05; 95% CI, -1.64 to -0.47), and cardiac troponin I levels (MD, -7.96; 95% CI, -12.84 to -3.07). Improvements were observed in peak oxygen consumption (MD, 1.20; 95% CI, 0.23-2.17) and patient-reported outcomes (Kansas City Cardiomyopathy Questionnaire Clinical Summary Score: MD, 6.44; 95% CI, 3.50-9.37), with more patients achieving New York Heart Association class improvement >1 (OR, 4.05; 95% CI, 2.61-6.30). Treatment-emergent adverse events were higher with CMI therapy (OR, 1.45; 95% CI, 1.02-2.05), but serious adverse events and other safety outcomes were comparable in both groups. CMIs, including mavacamten and aficamten, significantly improve clinical outcomes in HCM patients with a manageable safety profile. These results indicate that CMIs offer a promising noninvasive alternative to septal reduction therapies.Not hel
The carbon footprint of the perioperative transurethral resection of bladder tumour pathway
No full textOBJECTIVES: To evaluate the carbon footprint of the perioperative transurethral resection of bladder tumour (TURBT) pathway from decision to treat to postoperative discharge, and model potential greenhouse gas (GHG) emissions reduction strategies. MATERIALS AND METHODS: This process-based attributional cradle-to-grave life-cycle assessment (LCA) of GHG emissions modelled the perioperative TURBT pathway at a hospital in Southwest England. We included travel, energy and water use, all reusable and consumable items, and laundry and equipment sterilisation. Resource use for 30 patients undergoing surgery was recorded to understand average GHG emissions and the inter-case variability. Sensitivity analysis was performed for manufacturing location, pharmaceutical manufacturing carbon-intensity, and theatre list utilisation. RESULTS: The median (interquartile range) perioperative TURBT carbon footprint was 131.8 (119.8-153.6) kg of carbon dioxide equivalent. Major pathway categories contributing to GHG emissions were surgical equipment (22.2%), travel (18.6%), gas and electricity (13.3%), and anaesthesia/drugs and associated adjuncts (27.0%), primarily due to consumable items and processes. Readily modifiable GHG emissions hotspots included patient travel for preoperative assessment, glove use, catheter use, irrigation delivery and extraction, and mitomycin C disposal. GHG emissions were higher for those admitted as inpatients after surgery. CONCLUSIONS: This cradle-to-grave LCA found multiple modifiable GHG emissions hotspots. Key mitigation themes include minimising avoidable patient travel, rationalising equipment use, optimally filling operating theatre lists, and safely avoiding postoperative catheterisation and hospital admission where possible. A crucial next step is to design and deliver an implementation strategy for the environmentally sustainable changes demonstrated herein.Published version, accepted version (12 month embargo), submitted versionRDUH staff can access the full-text of this article by clicking on the 'Additional Link' above and logging in with NHS OpenAthens if prompted
Systematic review of the perioperative classification, diagnosis, description and repair of hiatus hernias in randomized controlled trials
No full textHiatus hernias (HH) are a common cause of symptoms and complications, with considerable variation in anatomy, function, diagnosis and treatment. We undertook the first systematic review to appraise how HH are diagnosed and classified in the literature, using randomized controlled trials as a sample. A search was performed in July 2021of the PubMed, EMBASE and Cochrane Central Register of Controlled Trials, and 2832 articles were identified and 64 were included. Median Jadad score was 2. Studies demonstrated considerable variation in diagnosis, classification and minimum surgical steps. The commonest classifications before surgery were axial length and the Type I-IV classification, variably assessed by endoscopy and contrast swallow. Intra-operatively, the commonest classification was type I-IV. A minority used more than one classification, or alternatives such as defect size and Hill classification. Most studies reported minimum steps, but these varied. Only a minority reported criteria for diagnosing recurrence. Using randomized controlled trials to appraise the highest quality evidence in the literature, we found considerable variation and inconsistency in the way HH are diagnosed and classified. This lack of a 'common language' has significant impacts for the generalizability of evidence, study synthesis and design. We propose the development of an internationally accepted classification. We wish to confirm that there are no known conflicts of interest associated with this publication and there has been no significant financial support for this work that could have influenced its outcome. We confirm that the manuscript has been read and approved by all named authors and that there are no other persons who satisfied the criteria for authorship but are not listed. We further confirm that the order of authors listed in the manuscript has been approved by all of us.Not hel
Creation of a Patient Information Video to Improve the Patient Experience of the Surgical Assessment Unit
No full textBACKGROUND: Patients who attend emergency surgical services are entering an unfamiliar environment whilst often being unwell and in pain. Patient satisfaction in emergency surgical units is often low due to poor communication with attendees and long wait times. METHODS: A pilot patient questionnaire identified areas where patient satisfaction was low during attendance at the surgical assessment unit (SAU). The aim of this intervention was to improve patient satisfaction with their experience whilst attending the SAU. An education video was filmed to address the areas where services were falling short of expectations, and this was played in the waiting room. Further questionnaire results tailored the frequency of the video to achieve maximum impact. RESULTS: Data were collected at three time points: firstly, prior to the introduction of the video (n=34); secondly, with the video played hourly (n=15); and finally with the video played every 30 minutes at a higher volume (n=15). Mean satisfaction scores after the final cycle improved to 7.3 from 4.9 (p=0.0009). Additionally, 94% of patients agreed that the video was in keeping with their personal experience of the SAU and agreed that the video improved their understanding of what to expect from the visit. CONCLUSIONS: Interventions that improve communication with patients and adjust their expectations play an important role in improving patient satisfaction and their overall perception of care. This can be achieved with a simple patient information video.UnknownRDUH staff can access the full-text of this article by clicking on the 'Additional Link' above and logging in with NHS OpenAthens if prompted
Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases
No full textFirst-line genetic investigations for rare neurological and developmental conditions have limitations in their ability to detect and characterize copy number variants (CNVs). Whole genome sequencing (WGS) offers potential advantages over other methods of CNV analysis. We aimed to demonstrate the utility of CNV detection using WGS through description of three clinical cases. WGS analysis was undertaken in three patients presenting to a national rare disease service, in whom a genetic aetiology remained uncertain after gene panel testing or microarray based comparative genomic hybridization (array CGH). In all three cases, WGS identified CNVs and confirmed zygosity and pathogenicity, resulting in genetic diagnoses of PRKN-related Parkinson disease, TAOK1-related neurodevelopmental disorder, and AP1G1-related Usmani-Riazuddin syndrome. This case series demonstrates the value of WGS analysis in identifying or better characterizing CNVs that were missed or deemed of uncertain significance using conventional methods of testing. Importantly, our approach facilitated accurate genetic diagnosis and counselling for the families involved.0Journal 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
Unmasking the cannabis paradox: in-hospital outcomes of cannabis users admitted with acute myocardial infarction over a 20-year period in the United States
No full textINTRODUCTION: Cannabis is increasingly becoming a socially acceptable substance, with multiple countries having legalised its consumption. Epidemiological studies have demonstrated an association between cannabis use and an increased risk of developing coronary artery disease. However, there is a lack of studies about the influence of cannabis consumption on the outcomes following acute myocardial infarction (AMI). MATERIAL AND METHODS: We retrospectively analysed hospitalised patients with a primary diagnosis of AMI from the 2001 to 2020 National Inpatient Sample (NIS). Pearson's χ(2) tests were applied to categorical variables, and t-tests for continuous variables. We conducted a 1:1 propensity score matching (PSM). Multivariate regression models were deployed on the PSM sample to estimate the differences in several events and all-cause mortality. RESULTS: A total of 9,930,007 AMI patients were studied, of whom 117,641 (1.2%) reported cannabis use. Cannabis users had lower odds of atrial fibrillation (aOR = 0.902, p < 0.01), ventricular fibrillation (aOR = 0.919, p < 0.01), cardiogenic shock (aOR = 0.730, p < 0.01), acute ischaemic stroke (aOR = 0.825, p < 0.01), cardiac arrest (aOR = 0.936, p = 0.010), undergoing PCI (aOR = 0.826, p < 0.01), using IABP (aOR = 0.835, p < 0.01), and all-cause mortality (aOR = 0.640, p < 0.01), but with higher odds of supraventricular tachycardia (aOR = 1.104, p < 0.01), ventricular tachycardia (aOR = 1.054, p < 0.01), CABG use (aOR = 1.040, p = 0.010), and acute kidney injury (aOR = 1.103, p < 0.01). CONCLUSIONS: Among patients aged 18-80 years admitted to hospital with AMI between 2001 and 2020 in the United States, cannabis use was associated with lower risks of cardiogenic shock, acute ischaemic stroke, cardiac arrest, PCI use, and in-hospital mortality.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
New year, new beginning? The death of the single institution case series
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