Cognition in patients with mild autonomous cortisol secretion at baseline and post-adrenalectomy.

Objectives: The impact of mild autonomous cortisol secretion (MACS) on cognition is incompletely characterized. We aimed to assess cognition in patients with MACS, identify factors associated with lower cognition, and determine the impact of adrenalectomy on cognition.

Methods: We conducted a cross-sectional study (4/2019 to 10/2022) and a longitudinal cohort study (10/2021 to 9/2023) of adults with MACS and referent subjects.

An ultra-early, transient interferon-associated innate immune response associates with protection from SARS-CoV-2 infection despite exposure.

Background: A proportion of individuals exposed to respiratory viruses avoid contracting detectable infection. We tested the hypothesis that early innate immune responses associate with resistance to detectable infection in close contacts of COVID-19 cases.

Methods: 48 recently-exposed household contacts of symptomatic COVID-19 cases were recruited in London, UK between May 2020 and March 2021 through a prospective, longitudinal observational study.

Psychosocial experiences of clinicians providing care for children with severe neurological impairment.

Aim: To investigate clinicians' psychosocial experiences navigating interdisciplinary care for children with severe neurological impairment (SNI), for example children with a developmental epileptic encephalopathy; secondarily, to identify preferences for future interventions to support clinicians caring for children with SNI.

Method: We conducted a qualitative descriptive study with interdisciplinary clinicians by using a purposeful sampling recruitment strategy. Twenty-four participants with expertise caring for children with SNI completed in-depth, semi-structured interviews.

Social Anxiety Symptoms in Adolescents and Young Adults Recently Diagnosed with Cancer.

Social anxiety disorder (SAD) remains an understudied potential link between the cancer experience and adolescent and young adult (AYA) cancer survivors' poor psychosocial outcomes. We investigated the frequency and duration of, as well as factors associated with, symptoms of SAD among AYAs with cancer. This longitudinal, mixed-methods study involved online surveys (including a validated screening tool for SAD) at recruitment and 6 months later, and a structured clinical interview.

Exploring childhood cancer survivor, parent, healthcare and community professionals' experiences of, and priorities for, using digital health to engage in physical activity: a mixed methods study.

Purpose: Digital health interventions provide an innovative way to engage childhood cancer survivors in physical activity, yet few studies have explored the priorities of key stakeholders regarding using digital health. We aimed to investigate survivor, parent, and healthcare and community professional (HCP) experiences, priorities, and perceived importance of using digital health to promote physical activity behaviours for survivors.

Methods: Participants rated the importance of digital health features to promote physical activity in a survey.

The psychosocial impact of childhood dementia on children and their parents: a systematic review.

Background: Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life and shortened life expectancy. Traditional research, service development and advocacy efforts have been fragmented due to a focus on individual disorders, or groups classified by specific mechanisms or molecular pathogenesis. There are significant knowledge and clinician skill gaps regarding the shared psychosocial impacts of childhood dementia conditions.

What is the margin of error of surgeons and radiological imaging in diagnosing acute appendicitis?

Background: Acute appendicitis is the most common emergency requiring surgical intervention in general surgery. Negative appendectomy is defined as the removal of a pathologically normal appendix.

Aim: In this study, we aimed to show our negative appendectomy rate.

Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol.

Introduction: Developmental and epileptic encephalopathies (DEEs) are rare epilepsy conditions that collectively impact 1 in 2000 children. They are highly genetically heterogeneous, resulting in significant barriers to accurate and adequate information for caregivers. This can lead to increased distress and dissatisfaction with the healthcare system.

Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty.

This is the second of a three-part series that explores different aspects of uncertainty, certainty and hope in the context of providing clinical care for children with rare and life-limiting neurological disorders. When caring for families impacted by an overwhelming complex disorder in a child, complicated by threatening uncertainties and potentially more threatening certainties, clinicians utilise skills drawn from differing fields to make the load of information, and the emotional impact more manageable. The first article in this series addressed how clinicians might manage the 'accumulation of uncertainties' and to provide compassionate care not only to their patients, and their families, but also to themselves.

Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty.

This is the first of three articles exploring the aspects of clinical care for children with rare neurological disorders including uncertainties old and new. The disruptive technologies of genomic sequencing and advanced therapeutics such as gene-based therapies offer parents of children with severe but rare neurological conditions for the first-time unprecedented opportunities for 'precision medicine'. At the same time, the realities of limited genomic diagnostic yields and not infrequent detection of variants of uncertain significance, lack of natural history study data and management guidelines for individually rare neurogenetic conditions, means that high pre-genomic test expectations are all too often replaced by an accumulation of new uncertainties.

Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope.

This is the third article of a three-part series and addresses how clinicians provide hopefulness meaningfully to families coping with life-limiting and quality of life impairing neurological conditions. The first two articles addressed the enormous challenges faced by carers and also explored the struggles of clinicians trying to provide relief and comfort. Can these families, and those helping clinically, legitimately hope? It is expectation that consolidates desire into a substantial hope that may motivate finding a way forward.

Onset and window of SARS-CoV-2 infectiousness and temporal correlation with symptom onset: a prospective, longitudinal, community cohort study.

Background: Knowledge of the window of SARS-CoV-2 infectiousness is crucial in developing policies to curb transmission. Mathematical modelling based on scarce empirical evidence and key assumptions has driven isolation and testing policy, but real-world data are needed. We aimed to characterise infectiousness across the full course of infection in a real-world community setting.

Piloting positive psychology resources for caregivers of a child with a genetic developmental and epileptic encephalopathy.

Unlabelled: Developmental and epileptic encephalopathies (DEEs) are chronic and life-threatening conditions, frequently with a genetic basis and infantile-onset. Caregivers often experience enduring distress adapting to their child's diagnosis and report a deficit of accessible psychological supports. We aimed to pilot a novel, empirically-driven suite of audio-visual positive psychology resources tailored for caregivers of children with a DEE, called 'Finding a Way'.

Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies.

Objective: To understand parents' of children with developmental and epileptic encephalopathies needs and preferences for psychological resources.

Methods: Using a person-based approach, a multidisciplinary panel of clinician and researchers ( = 9) hosted a priority-setting workshop to 1) understand parents' needs and preferences for psychological resources and 2) to develop 'guiding principles' to inform a future suite of psychological resources. The multidisciplinary panel analysed the parent priority-setting workshop data, using a combination of thematic and lexical analysis.

The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review.

Purpose: Genetic testing is frequently conducted on people with intellectual disability. This systematic literature review sought to assess what research has been conducted with people with intellectual disability to investigate their opinions and experiences of genetic counselling and testing.

Methods: A search of 5 online databases (from year of database creation to 2021) yielded 1162 articles.

Talking about post-injury sexual functioning: The views of people with spinal cord injuries-A qualitative interview study.

Aim: This study aimed to explore perceptions of people with spinal cord injuries regarding the information they received during their rehabilitation programme on post-injury sexual functioning.

Background: Spinal cord injury is a traumatic, life-altering event that is associated with loss of motor and sensory function and sexual impairment. Existing evidence suggests that sexual issues are poorly handled during the rehabilitation phase of the patient's journey.

Feasibility of a mental health informed physical activity intervention for the carers of children with developmental and epileptic encephalopathy.

Aim: Parents and carers of children with developmental and epileptic encephalopathies (DEEs) experience high rates of mental health disorders including depression and posttraumatic stress disorder. Physical activity is an evidence-based strategy which may help to improve the wellbeing of this population.

Method: We delivered a 4-week physical activity group program via a private Facebook group for carers of children with DEEs and their nominated support person.

Functional modulation of the human voltage-gated sodium channel Na1.8 by auxiliary β subunits.

The voltage-gated sodium channel Na1.8 mediates the tetrodotoxin-resistant (TTX-R) Na current in nociceptive primary sensory neurons, which has an important role in the transmission of painful stimuli. Here, we describe the functional modulation of the human Na1.

The information needs of parents of children with early-onset epilepsy: A systematic review.

Objective: Early-onset epilepsy has broad physical and psychosocial impacts, and parents have a wide variety of information needs. This systematic review set out to assess 1) whether parents of children with early-onset epilepsy have unmet information needs and 2) their preferences regarding information content and style of information delivery.

Methods: We searched Medline, Embase, PsychInfo, and CINAHL using keywords relating to information needs, information resources, and preferences for information delivery.

The development and evaluation of a nationwide training program for oncology health professionals in the provision of genetic testing for ovarian cancer patients.

Background: BRCA1/2 mutation status has increasing relevance for ovarian cancer treatments, making traditional coordination of genetic testing by genetic services unsustainable. Consequently alternative models of genetic testing have been developed to improve testing at the initial diagnosis for all eligible women.

Methods: A training module to enable mainstreamed genetic testing by oncology healthcare professionals was developed by genetic health professionals.

On-resin strategy to label α-conotoxins: Cy5-RgIA, a potent α9α10 nicotinic acetylcholine receptor imaging probe.

In-solution conjugation is the most commonly used strategy to label peptides and proteins with fluorophores. However, lack of site-specific control and high costs of fluorophores are recognised limitations of this approach. Here, we established facile access to grams of Cy5-COOH a two-step synthetic route, demonstrated that Cy5 is stable to HF treatment and therefore compatible with Boc-SPPS, and coupled Cy5 to the N-terminus of α-conotoxin RgIA while still attached to the resin.

The stigma of clean dieting and orthorexia nervosa.

Background: Although the stigma of eating disorders such as anorexia has been well established, little is known about the social consequences of "clean dieting" and orthorexia nervosa. In two studies, we examined the social stigma of clean dieting and orthorexia.

Method: In Study 1, participants read a vignette describing a woman following a "clean" diet, a woman with anorexia, or a control target (minimal information about the individual).