Salisbury NHS Foundation Trust

BackgroundThere is a need for a user-led, evidence-based digital application (app.) that meets the identified information and support needs and preferences of young people and young adults aged 12–35 years (YP/YA) with Nephrotic Syndrome (NS) in the United Kingdom (UK). The password protected novel Nephrotic Syndrome Trust (NeST) app was therefore co-designed with YP/YA with NS to empower them to: access news of NS related events, take more control of their treatment and feel confident in sharing and accessing their data. The app allows YP/YA with NS to record regular urine dipstick readings, blood pressure, weight, temperature, medications, immunisations, symptoms (e.g. swollen feet), relapse or remission episodes, and the name of their renal unit. Additional features include an appointment diary to record feedback from their renal multidisciplinary team, treatment information and hospital admission episodes. The software was approved for release on iOS & Android app stores and the NHS Digital verification programme, meaning that users can be identified against their NHS records. The aim of the survey was to evaluate the NeST App from the perspective of YP/YA with NS.MethodsThrough a consultative process, an online survey involving a combination of closed and open-ended questions was created and circulated via social media and email to target users of the app.ResultsTwenty YP/YA with NS aged 12 years and older tested the app, completed the survey and provided quantitative and qualitative data. All found this app helpful, and easy to use and all would use it in future as part of standard practice.ConclusionsThese data provide important feedback and suggestions for further app refinement and will integrate it with current national data collection via the UK Renal Registry (UKRR). To build on this collaborative project the developers will continue to collaborate with patients and health care professionals to ensure the app is a continually evolving and relevant resource, providing a voice for those living with NS. The app technology could potentially be rebooted and relaunched at minimal cost to support patients with other kidney conditions.Clinical trial numberNot applicable.Supplementary InformationThe online version contains supplementary material available at 10.1186/s12882-025-04684-1.

Abstract Aim Holmium-Laser Enucleation of the Prostate (HoLEP) has become the preferred surgical approach in treating bladder outflow obstruction (BOO) secondary to high-volume prostates despite a plethora of new interventions. Due to excellent haemostatic properties and low complication rates, day-case procedures are increasingly common. An analysis of current practice to determine safety and outcomes of short-stay HoLEP was conducted. Method A retrospective analysis of patients' records undergoing HoLEP between December 2020-April 2024 at three high-volume centres. Results 441 patients, mean age 72y(range=53-89y), mean body mass Index 27.3(SD=4), mean PSA 7.63ng/ml(SD=7ng/ml) and mean prostate volume 111cc(SD=27cc) underwent HoLEP. 20.8% patients were anticoagulated. Indications included lower urinary tract symptoms (32.8%), urinary retention (47.9%), and high-pressure chronic retention (8.5%). Mean operating time:119min(SD=48min), mean morcellation time:28min(SD=22min), mean tissue resection:77g(SD=52g). Mean post-operative stay was 0.6 days (SD=1 day), with 51% as day-case procedures. Urinary tract infection in 3.1%, bleeding requiring review in 6.8% and return to theatre in 0.9%, Mean post-op QMax was 19.6ml/s, mean QMax improvement of 113%. 12% noted incontinence at first follow-up (3-6 months, ≥1pad/day). 1.8% developed urethral stricture and 1 patient complained of persistent de-novo erectile dysfunction. Statistical analysis demonstrated anticoagulation, larger prostate volumes (>120cc) and pre-operative catheterisation were not associated with greater complications or worse outcomes. Conclusions HoLEP is a highly effective treatment for BOO with a low side-effect profile which can be performed safely as a day-case procedure. Overall complication rates were low. Incontinence rates at first follow-up underpin the importance of commencing pelvic floor exercises pre-operatively.

Early in the COVID-19 pandemic, CT was demonstrated as a sensitive tool for diagnosing COVID-19. We undertook a detailed study of CT scans in COVID-19 patients to characterise disease distribution within lung parenchyma, respiratory airways, and pulmonary vasculature, aiming to delineate underlying disease processes. We characterised acute phase chest CT of 40 participants with COVID-19 from the REACT study, 31 with CT pulmonary angiography (CTPA), 4 with intravenous contrast enhanced CT and 5 with non-intravenous contrast enhanced CT. Participants had neither been vaccinated nor received systemic steroids. We further correlated the distribution of lung parenchymal damage on CT with contemporaneous chest radiographs. Parenchymal lung damage was found in all subjects. However, airways inflammation was present in only 23% (9) and limited to small areas. Notably, vascular abnormalities were dominant and characterised by dilated peripheral pulmonary vessels supplying areas of lung damage in a gravity-dependent distribution bilaterally in 95% (38), basally in 90% (36), peripherally in 92.5% (37), and posteriorly in 90% (36). Macrothrombosis was demonstrated in 23% (7) of CTPAs. Wedge-shaped peripheral lung damage, resembling areas of pulmonary vascular congestion, were distinct in 53% (21) with or without visible macrothrombosis. Pleural effusions were seen in 28% (11). Notably, lung opacification distribution in 98% of the plain radiographs matched distribution on CT (39). Our study frames COVID-19 as a pulmonary vasculopathy rather than a more conventional pneumonia which may be important not only for guiding mechanistic study design but also for the development of novel targeted therapeutics.

ORBITA-2 (the Placebo-Controlled Trial of Percutaneous Coronary Intervention for the Relief of Stable Angina) provided evidence for the role of percutaneous coronary intervention (PCI) for angina relief in stable coronary artery disease. Fractional flow reserve (FFR) and instantaneous wave-free ratio (iFR) are often used to guide PCI; however, their ability to predict placebo-controlled angina improvement is unknown. Participants with angina, ischemia, and stable coronary artery disease were enrolled, and anti-anginal medications were stopped. Participants reported angina episodes daily for 2 weeks using the ORBITA smartphone symptom application (ORBITA-app). At the research angiogram, FFR and iFR were measured. After sedation and auditory isolation, participants were randomized to PCI or placebo before entering a 12-week blinded follow-up phase with daily angina reporting. The ability of FFR and iFR, analyzed as continuous variables, to predict the placebo-controlled effect of PCI was tested using Bayesian proportional odds modeling. Invasive physiology data were available for 279 patients (140 PCI and 139 placebo). The median (interquartile range) age was 65 years (59.0-70.5), and 223 (79.9%) were male. Median FFR was 0.60 (0.46-0.73), and median iFR was 0.76 (0.50-0.86). The lower the FFR or iFR, the greater the placebo-controlled improvement with PCI across all end points. There was strong evidence that a patient with an FFR at the lower quartile would have a greater placebo-controlled improvement in angina symptom score with PCI than a patient at the upper quartile (FFR, 0.46 versus 0.73: odds ratio, 2.01; 95% credible interval, 1.79-2.26; probability of interaction, >99.9%). Similarly, there was strong evidence that a patient with an iFR at the lower quartile would have greater placebo-controlled improvement in angina symptom score with PCI than a patient with an iFR at the upper quartile (iFR, 0.50 versus 0.86: odds ratio, 2.13; 95% credible interval, 1.87-2.45; probability of interaction, >99.9%). The relationship between benefit and physiology was seen in both Rose angina and Rose nonangina. Physiological stenosis severity, as measured by FFR and iFR, predicts placebo-controlled angina relief from PCI. Invasive coronary physiology can be used to target PCI to those patients who are most likely to experience benefit. URL: https://www.clinicaltrials.gov; Unique identifier: NCT03742050.

BackgroundGeneral practitioners (GPs) often expedite indeterminate scrotal lumps for urological evaluation. While a scrotal examination by a urologist is crucial, ultrasound (US) has become a routine component of clinical assessment regardless of the clinical examination findings and the nature of the symptoms. This study aimed to evaluate the efficacy of clinical examination compared to scrotal ultrasound, even when the suspicion of cancer was low.MethodologyA retrospective review of all fast-track testicular referrals seen in the clinic between January 2018 and January 2021 was conducted. Data on clinical examination findings, ultrasound results, and final diagnoses were analyzed. Patients for whom ultrasound scans were available before clinical examination were excluded from the study to avoid confounding the results.ResultsA total of 398 male subjects were referred for urological assessment, and 123 cases were excluded based on specified exclusion criteria. Two hundred seventy-five patients were identified who underwent clinical examination by urologists and subsequent ultrasound scans. Among 30 (11%) potentially malignant cases, 18 (60%) were confirmed malignancies. Sixty-eight (24.7%) cases were deemed unlikely to be malignant, and an ultrasound scan confirmed 40 (58.8%) cases as normal and four (5.9%) cases of unexpected malignancy. Ultrasonography confirmed 19 of 27 hydroceles (70.4%), 64 of 89 epididymal cysts (71.9%), and 5 of 9 varicoceles (55.6%). Of 51 epididymo-orchitis cases, 14 (27.5%) were confirmed.ConclusionsUrological examinations demonstrated high reliability in most cases, with clinical diagnoses frequently corroborated by ultrasonographic findings. The results indicate that when there is no clinical indication for an ultrasound scan, it is more efficient to avoid unnecessary ultrasonography, as it can be time-consuming without providing additional diagnostic benefits. This underscores the value of thorough clinical assessment in guiding the need for further imaging.

Purpose and scopeThe aim of this position statement is to provide recommendations regarding the delivery of genomic testing to patients with rare disease in the UK and Ireland. The statement has been developed to facilitate timely and equitable access to genomic testing with reporting of results within commissioned turnaround times.Methods of statement developmentA 1-day workshop was convened by the UK Association for Clinical Genomic Science and attended by key stakeholders within the NHS Genomic Medicine Service, including clinical scientists, clinical geneticists and patient support group representatives. The aim was to identify best practice and innovations for streamlined, geographically consistent services delivering timely results. Attendees and senior responsible officers for genomic testing services in the UK nations and Ireland were invited to contribute.Results and conclusionsWe identified eight fundamental requirements and describe these together with key enablers in the form of specific recommendations. These relate to laboratory practice (proportionate variant analysis, bioinformatics pipelines, multidisciplinary team working model and test request monitoring), compliance with national guidance (variant classification, incidental findings, reporting and reanalysis), service development and improvement (multimodal testing and innovation through research, informed by patient experience), service demand, capacity management, workforce (recruitment, retention and development), and education and training for service users. This position statement was developed to provide best practice guidance for the specialist genomics workforce within the UK and Ireland but is relevant to any publicly funded healthcare system seeking to deliver timely rare disease genomic testing in the context of high demand and limited resources.

Inhalers are the mainstay of asthma treatment, but are responsible for a disproportionately high level of carbon emissions compared with other aspects of healthcare. There is a growing interest among CYP in discussing the environmental impact of their treatment with healthcare staff. In this article, we outline an individualised approach to modifying asthma treatment to be more sustainable. We explore options including prescribing dry powder inhalers over pressurised metered dose inhalers, choosing inhaler devices with lower carbon footprints, improving disposal and recycling of inhalers, and optimising basic asthma care through routine reviews, prescription management and during exacerbations.

BACKGROUND:Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder. This study aimed to study the genotype distribution of FCS-causing genes in the United Kingdom, genotype-phenotype correlation, and clinical differences between FCS and multifactorial chylomicronemia syndrome (MCS).METHODS:The study included 154 patients (FCS, 74; MCS, 80) from the UK FCS national registry and the UK arm of the FCS International Quality Improvement and Service Evaluation Project.RESULTS:FCS was relatively common in non-Europeans and those with parental consanguinity (P<0.001 for both). LPL variants were more common in European patients with FCS (European, 64%; non-European, 46%), while the genotype was more diverse in non-European patients with FCS. Patients with FCS had a higher incidence compared with patients with MCS of acute pancreatitis (84% versus 60%; P=0.001), recurrent pancreatitis (92% versus 63%; P<0.001), unexplained abdominal pain (84% versus 52%; P<0.001), earlier age of onset (median [interquartile range]) of symptoms (15.0 [5.5–26.5] versus 34.0 [25.2–41.7] years; P<0.001), and of acute pancreatitis (24.0 [10.7–31.0] versus 33.5 [26.0–42.5] years; P<0.001). Adverse cardiometabolic features and their co-occurrence was more common in individuals with MCS compared with those with FCS (P<0.001 for each). Atherosclerotic cardiovascular disease was more prevalent in individuals with MCS than those with FCS (P=0.04). However, this association became nonsignificant after adjusting for age, sex, and body mass index. The prevalence of pancreatic complications and cardiometabolic profile of variant-positive MCS was intermediate between FCS and variant-negative MCS.CONCLUSIONS:The frequency of gene variant distribution varies based on the ethnic origin of patients with FCS. Patients with FCS are at a higher risk of pancreatic complications while the prevalence of atherosclerotic cardiovascular disease is lower in FCS compared with MCS. Carriers of heterozygous pathogenic variants have an intermediate phenotype between FCS and variant-negative MCS.