The role of the supervisor in self-regulated learning in the clinical environment: BEME Guide No. 89.

Introduction: Self-regulated learning (SRL) in medical education is important for successful learning and safe patient care. However, supervisors may be unaware of behaviours that explicitly facilitate or inhibit their students' or residents' SRL, therefore this BEME review explores the role of the supervisor in SRL in clinical environments.

Methods: A qualitative systematic review using meta-aggregation was performed, seeking to draw on the knowledge of included studies and the participants those studies represent to create context-rich recommendations that are relevant and applicable to practice.

Beyond the bedside: A scoping review of the experiences of non-practising health care professionals in Health Professions Education.

Introduction: The shortage of educators within Health Professions Education (HPE) threatens the optimal training of the future health care workforce. Furthermore, without recruitment of diverse and skilled faculty, targets to expand the workforce will not be possible. Non-practising health care professionals offer extensive knowledge and qualifications within health care, without the competing clinical commitments of their clinical academic colleagues, and therefore are ideally positioned to support education and training initiatives.

Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK.

Metachromatic leukodystrophy (MLD) is a fatal inherited lysosomal storage disease that can be detected through newborn bloodspot screening. The feasibility of the screening assay and the clinical rationale for screening for MLD have been previously demonstrated, so the aim of this study is to determine whether the addition of screening for MLD to the routine newborn screening program in the UK is a cost-effective use of National Health Service (NHS) resources. A health economic analysis from the perspective of the NHS and Personal Social Services was developed based on a decision-tree framework for each MLD subtype using long-term outcomes derived from a previously presented partitioned survival and Markov economic model.

Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.

Background: Sebelipase alfa (Kanuma®) is approved for patients with Wolman disease (WD) at a dosage of 3-5 mg/kg once weekly. Survival rates in the second of two clinical trials was greater, despite recruiting more severely ill patients, probably related to higher initial and maximal doses. We aimed to evaluate the effective pharmacokinetics and pharmacodynamics of Sebelipase alfa when administered to patients with severe WD at 5 mg/kg twice weekly, an intensive regimen which was not assessed in the trials.

Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases.

Clinical findings of hepatomegaly and splenomegaly, the abnormal enlargement of the liver and spleen, respectively, should prompt a broad differential diagnosis that includes metabolic, congestive, neoplastic, infectious, toxic, and inflammatory conditions. Among the metabolic diseases, lysosomal storage diseases (LSDs) are a group of rare and ultrarare conditions with a collective incidence of 1 in 5000 live births. LSDs are caused by genetic variants affecting the lysosomal enzymes, transporters, or integral membrane proteins.

Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.

Newborn screening (NBS) for metachromatic leukodystrophy (MLD) is based on first-tier measurement of sulfatides in dried blood spots (DBS) followed by second-tier measurement of arylsulfatase A in the same DBS. This approach is very precise with 0-1 false positives per ∼30,000 newborns tested. Recent data reported here shows that the sulfatide molecular species with an α-hydroxyl, 16‑carbon, mono-unsaturated fatty acyl group (16:1-OH-sulfatide) is superior to the original biomarker 16:0-sulfatide in reducing the number of first-tier false positives.

Online survey exploring researcher experiences of research funding processes in the UK: the effort and burden of applying for funding and fulfilling reporting requirements.

Objective: To explore researchers' experiences of funding processes, the effort and burden involved in applying for funding, obtaining funding and/or fulfilling reporting requirements with a UK health and social care research funder.

Design/setting: A cross-sectional online survey study with open (free-text) and closed questions (August to November 2021).

Participants: Researchers with experience of applying for/obtaining funding and/or experience of fulfilling reporting requirements for UK health and social care research funded between January 2018 and June 2021.

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.

Metachromatic leukodystrophy (MLD) is a devastating rare neurodegenerative disease. Typically, loss of motor and cognitive skills precedes early death. The disease is characterised by deficient lysosomal arylsulphatase A (ARSA) activity and an accumulation of undegraded sulphatide due to pathogenic variants in the ARSA gene.

Educational interventions for imposter phenomenon in healthcare: a scoping review.

Background: Imposter Phenomenon (IP) is a subjective feeling of intellectual fraudulence and self-doubt experienced by individuals in goal-orientated high-achieving professions. The impact of IP within healthcare has been associated with individual physical and mental health and concerns around training, career progression and DEI at an institutional level. To effectively address IP in healthcare, this scoping review aims to explore educational interventions designed to empower high-achieving individuals with the tools needed to confront and overcome IP.

Study protocol for a randomized controlled trial of RealConsent2.0: a web-based intervention to promote prosocial alcohol-involved bystander behavior in young men.

Background: Sexual violence (SV) is a significant, global public health problem, particularly among young adults. Promising interventions exist, including prosocial bystander intervention programs that train bystanders to intervene in situations at-risk for SV. However, these programs suffer from critical weaknesses: (1) they do not address the proximal effect of alcohol use on bystander decision-making and (2) they rely on self-report measures to evaluate outcomes.

Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.

Fucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the gene, leading to alpha-L-fucosidase deficiency; it is inherited as an autosomal recessive trait. Fucosidosis represents a disease spectrum with a wide variety of clinical features, but most affected patients have slow neurologic deterioration. Many patients die young and the long-term clinical outcomes in adult patients are poorly documented.

Beyond the bedside: protocol for a scoping review exploring the experiences of non-practicing healthcare professionals within health professions education.

Background: The number of healthcare professionals leaving clinical practice and transitioning to alternative careers in health professions education is increasing. Among these non-practicing healthcare professionals, concerns have been reported regarding tensions in relation to identity, role, and credibility in their new field. There are suggestions that this is a particularly pressing issue for minoritised professionals who make this transition.

An in-depth exploration of researcher experiences of time and effort involved in health and social care research funding in the UK: The need for changes.

The need to reform the way in which research is undertaken is clear, with reducing research bureaucracy and waste at the forefront of this issue for the UK government, funding organisations, higher education institutions and wider research community. The aim of this study was to describe researchers' experiences of the time, effort and burden involved in funding processes-namely applying for research funding and fulfilling reporting requirements. This was an in-depth qualitative study using semi-structured interviews with researchers who had experience applying for funding and/or completing reporting requirements for a UK health and social care research funder between January 2018 and June 2021.

When I say … 'non-clinical practice'.

In recent years, we have seen the emergence of the term 'non-clinical practice' used in the literature and the healthcare field more broadly. However, there has not yet been a critical examination of what this term means and how it may subtly influence the social reality and culture of healthcare practice. Based on the available literature and the authors' lived experience, we position this article and the term 'non-clinical practice' relative to medical doctors.

Defect-free graphene enhances enzyme delivery to fibroblasts derived from patients with lysosomal storage disorders.

Enzyme replacement therapy shows remarkable clinical improvement in treating lysosomal storage disorders. However, this therapeutic approach is hampered by limitations in the delivery of the enzyme to cells and tissues. Therefore, there is an urgent, unmet clinical need to develop new strategies to enhance the enzyme delivery to diseased cells.

Under- and post-graduate training to manage the acutely unwell patient: a scoping review.

Background: Junior doctors are often the first responders to acutely unwell patients and yet frequently report feeling under-prepared to do so. To understand whether this is consequential of how medical students and doctors are trained to manage acutely unwell patients, a scoping review was conducted using a systematic approach.

Methods: The review, informed by the Arksey and O'Malley and PRISMA-ScR guidelines, identified educational interventions targeting the management of acutely unwell adults.

Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. 2022, , 20".

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Detection of 10 cases of ceftriaxone-resistant in the United Kingdom, December 2021 to June 2022.

Between December 2021 and June 2022, 10 cases of ceftriaxone-resistant (ST8123; n = 8) were detected in the United Kingdom, compared with nine cases during the previous 6 years. Most of these cases were associated with travel from the Asia-Pacific region; all were heterosexual people, with most in their 20s. Although all cases were successfully treated, not all partners of cases could be traced, and there is a risk of further transmission of ceftriaxone-resistant gonococcal infection within the UK.

Mindful Awareness Promotes Resilience: Buffered Links Among Childhood Sexual Abuse Severity, Goal-Directed Emotion Dysregulation, and Psychopathology.

Objectives: Childhood sexual abuse is linked to long-term consequences, including depression and anxiety in adulthood. Although considerable progress has been made to understand mechanisms that may account for this relation, such as emotion dysregulation, less attention has been given to protective factors that may mitigate it. One such protective factor might be mindful awareness.

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.

A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane-tethering protein complexes, HOPS, and CORVET. Whole exome sequencing identified a novel VPS33A mutation in a patient suffering from a variant form of mucopolysaccharidosis. Electron and confocal microscopy, immunoblotting, and glycosphingolipid trafficking experiments were undertaken to investigate the effects of the mutant VPS33A in patient-derived skin fibroblasts.

Rise of the Med-Ed-ists: Achieving a critical mass of non-practicing clinicians within medical education.

In the latest "Connections" article, Church and Brown use the concept of 'critical mass' to explain how stigma, lack of career pathways and prioritization of clinical seniority may discourage non‐practicing clinicians from becoming educationalists.