Centre-level fluid management practices in the BISTRO trial and their lack of association with participant fluid status and blood pressure in non-anuric haemodialysis patients.

Introduction: Fluid assessment and management is a key aspect of good dialysis care and is affected by patient-level characteristics and potentially centre-level practices. In this secondary analysis of the BISTRO trial we wished to establish whether centre-level practices with the potential to affect fluid status were stable over the course of the trial and explore if they had any residual associations with participant's fluid status.

Methods: Two surveys (S) of fluid management practices were conducted in 32 participating centres during the trial, (S1: 2017-18 and S2: 2021-22).

Impact of the Preservation of Residual Kidney Function on Hemodialysis Survival: Results from the BISTRO Trial.

Background: Preservation of residual kidney function (RKF) in dialysis patients has been associated with improved survival. RKF in the BISTRO trial was relatively well preserved and here we describe its association with survival during the trial and extended follow-up.

Methods: RKF, measured as the average urea and creatinine clearance (GFR) or 24-hour urine volume was assessed at baseline, one, two and three months and three-monthly up to 2 years in incident haemodialysis patients.

Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for -related schwannomatosis.

Background: Most schwannomas are isolated tumours occurring in otherwise healthy people. However, bilateral vestibular schwannomas (BVS) or multiple non-vestibular schwannomas indicate an underlying genetic predisposition. This is most commonly -related schwannomatosis (SWN), but when BVS are absent, this can also indicate -related or -related SWN.

Protocol for the development and validation of a Polypharmacy Assessment Score.

Background: An increasing number of people are using multiple medications each day, named polypharmacy. This is driven by an ageing population, increasing multimorbidity, and single disease-focussed guidelines. Medications carry obvious benefits, yet polypharmacy is also linked to adverse consequences including adverse drug events, drug-drug and drug-disease interactions, poor patient experience and wasted resources.

Defining, identifying and addressing problematic polypharmacy within multimorbidity in primary care: a scoping review.

Introduction: Polypharmacy and multimorbidity pose escalating challenges. Despite numerous attempts, interventions have yet to show consistent improvements in health outcomes. A key factor may be varied approaches to targeting patients for intervention.

Congenital Hyperinsulinism - Notes for the General Pediatrician.

Congenital hyperinsulinism (CHI) is a rare condition but is a common cause of severe and persistent hypoglycemia in early life. Prompt recognition of CHI is critical to prevent the impact of neuroglycopenia and consequent lifelong neurodisability. It is important to be alert to the possibility of CHI in newborn babies with recurrent hypoglycemia associated with high glucose requirements.

Medication Safety Gaps in English Pediatric Inpatient Units: An Exploration Using Work Domain Analysis.

Objectives: Medication is a common cause of preventable medical harm in pediatric inpatients. This study aimed to examine the sociotechnical system surrounding pediatric medicines management, to identify potential gaps in this system and how these might contribute to adverse drug events (ADEs).

Methods: An exploratory prospective qualitative study in pediatric wards in three hospitals in the north of England was conducted between October 2020 and May 2022.

Recommendations for the collection and annotation of biosamples for analysis of biomarkers in neurofibromatosis and schwannomatosis clinical trials.

Introduction: Neurofibromatosis 1 and schwannomatosis are characterized by potential lifelong morbidity and life-threatening complications. To date, however, diagnostic and predictive biomarkers are an unmet need in this patient population. The inclusion of biomarker discovery correlatives in neurofibromatosis 1/schwannomatosis clinical trials enables study of low-incidence disease.

The assessment of dysphagia after stroke: state of the art and future directions.

Dysphagia is a major complication following an acute stroke that affects the majority of patients. Clinically, dysphagia after stroke is associated with increased risk of aspiration pneumonia, malnutrition, mortality, and other adverse functional outcomes. Pathophysiologically, dysphagia after stroke is caused by disruption of an extensive cortical and subcortical swallowing network.

Updated protocol for genetic testing, screening and clinical management of individuals at risk of NF2-related schwannomatosis.

Genetic testing and management of individuals at risk for NF2-related schwannomatosis is complicated by the high rate of mosaicism resulting in a milder, later onset, more asymmetrical disease and the phenotypic overlap with the related schwannomatosis conditions. This updated protocol has been devised for the English NF2-related schwannomatosis service. It provides those affected with mosaic NF2-related schwannomatosis estimated risks of having an affected child; and management guidelines both for individuals at risk of NF2-related schwannomatosis, or with potential disease, due to having features that fall short of consensus diagnostic criteria.

Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21.

Vestibular schwannomas are benign nerve sheath tumours that arise on the vestibulocochlear nerves. Vestibular schwannomas are known to occur in the context of tumour predisposition syndromes NF2-related and LZTR1-related schwannomatosis. However, the majority of vestibular schwannomas present sporadically without identification of germline pathogenic variants.

Prevention of lymphoedema after axillary clearance by external compression sleeves PLACE randomised trial results. Effects of high BMI.

Unlabelled: Around 25% of women undergoing Axillary Clearance (ANC) develop lymphedema (LE). Intervention with a compression garment is recommended to prevent LE but no randomised evidence exists to support this strategy.

Methods: A randomised trial tested standard management versus application of graduated compression garments (20-24 mmHg) to affected arm, for 1 year.

Understanding factors that could influence patient acceptability of the use of the PINCER intervention in primary care: A qualitative exploration using the Theoretical Framework of Acceptability.

Introduction: Medication errors are an important cause of morbidity and mortality. The pharmacist-led IT-based intervention to reduce clinically important medication errors (PINCER) intervention was shown to reduce medication errors when tested in a cluster randomised controlled trial and when implemented across one region of England. Now that it has been rolled out nationally, and to enhance findings from evaluations with staff and stakeholders, this paper is the first to report patients' perceived acceptability on the use of PINCER in primary care and proposes suggestions on how delivery of PINCER related care could be delivered in a way that is acceptable and not unnecessarily burdensome.

Understanding factors influencing uptake and sustainable use of the PINCER intervention at scale: A qualitative evaluation using Normalisation Process Theory.

Introduction: Medication errors are an important cause of morbidity and mortality. The pharmacist-led IT-based intervention to reduce clinically important medication errors (PINCER) has demonstrated improvements in primary care medication safety, and whilst now the subject of national roll-out its optimal and sustainable use across health contexts has not been fully explored. As part of a qualitative evaluation we aimed to identify factors influencing successful adoption, embedding and sustainable use of PINCER across primary care settings in England, UK.

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.

Purpose: Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 and SWN by incorporating recent advances in genetics, ophthalmology, neuropathology, and neuroimaging.

Methods: We used a multistep process, beginning with a Delphi method involving global disease experts and subsequently involving non-neurofibromatosis clinical experts, patients, and foundations/patient advocacy groups.

School performance and genetic propensities for educational attainment and depression in the etiology of self-harm: a Danish population-based study.

Background: Poor school performance is linked to higher risks of self-harm. The association might be explained through genetic liabilities for depression or educational attainment. We investigated the association between school performance and self-harm in a population-based sample while assessing the potential influence of polygenic risk scores (PRSs) for depression (PRS) and for educational attainment (PRS).

Re-evaluation of missense variant classifications in NF2.

Missense variants in the NF2 gene result in variable NF2 disease presentation. Clinical classification of missense variants often represents a challenge, due to lack of evidence for pathogenicity and function. This study provides a summary of NF2 missense variants, with variant classifications based on currently available evidence.