Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.

Background: The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016.

Methods: The study included all symptomatic children with type I SMA born since January 1st, 2016, when DMTs became available in Italy.

Muscularity-oriented disordered eating: investigating body image concerns and the moderating role of emotion dysregulation in cyclists.

A lean muscular body of low weight is often associated with performance for cyclists and can be difficult to achieve. Disordered eating for some cyclists may develop in the pursuit of lean muscularity which is perceived to be beneficial to performance. Further, emotion dysregulation may exacerbate negative feelings about body image, increasing the risk of developing disordered eating as a means of controlling weight and shape.

Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.

Background: Cardiomyopathies are clinically important conditions, with a strong genetic component. National genomic initiatives such as 100,000 Genome Project (100KGP) provide opportunity to study these rare conditions at scale beyond conventional research studies.

Methods: We present the clinical and molecular characteristics of the 100KGP cohort, comparing paediatric and adult probands with diverse cardiomyopathies.

The potential of autologous regulatory T cell (Treg) therapy to prevent Cardiac Allograft Vasculopathy (CAV) in paediatric heart transplant recipients.

Paediatric heart transplant is an established treatment for end stage heart failure in children, however patients have to commit to lifelong medical surveillance and adhere to daily immunosuppressants to minimise the risk of rejection. Compliance with immunosuppressants can be burdensome with their toxic side effects and need for frequent blood monitoring especially in children. Though the incidence of early rejection episodes has significantly improved overtime, the long-term allograft health and survival is determined by Cardiac Allograft Vasculopathy (CAV) which affects a vast number of post-transplant patients.

'I Didn't Know What Was Going to Happen': Children's and Young People's Experiences and Their Involvement Before and After Selective Dorsal Rhizotomy.

Aims: To explore experiences, expectations, and involvement of children and young people (CYP) in decision-making for selective dorsal rhizotomy (SDR) surgery, post-operative physiotherapy treatment and outcomes.

Methods: A qualitative study design using one to one interviews. Five CYP (2 girls and 3 boys) participated, and interviews lasted between 45 min and 2 h.

Multimodality detection of tumour rupture in children with Wilms tumour.

Background And Aims: Tumour rupture (TR) signifies stage III disease and requires treatment intensification, which includes radiotherapy. We studied the associations between radiological, surgical and pathology TR in children with Wilms tumour (WT) in a United Kingdom multicentre clinical study.

Patients And Methods: The IMPORT (Improving Population Outcomes for Renal Tumours of Childhood) study registered 712 patients between 2012 and 2021.

A microbiological survey approach to understanding the virulence factors of Pseudomonas species in healthcare sinks.

Background: Hospital water is involved in both the prevention and spread of healthcare-associated infections (HCAIs). Handwashing is key to reducing the transmission of pathogens, yet numerous outbreaks have been found to be caused by organisms within sinks, taps and showers. Pseudomonas aeruginosa and increasingly non-aeruginosa Pseudomonas cause waterborne HCAI, however, little is known about the virulence potential of Pseudomonas species found within hospital environments.

Personal trauma history and secondary traumatic stress in mental health professionals: A systematic review.

Introduction: Caring for those who have been traumatized can place mental health professionals at risk of secondary traumatic stress, particularly in those with their own experience of personal trauma.

Aim: To identify the prevalence of personal trauma history and secondary traumatic stress in mental health professionals and whether there is an association between these two variables in mental health professionals.

Method: We preregistered the review with PROSPERO (CRD42022322939) and followed PRISMA guidelines.

Health-related quality of life following aortopexy for tracheomalacia: a cross-sectional study.

Objectives: The objective was to measure health-related quality of life (HRQoL) of children following treatment of all-cause tracheomalacia with aortopexy.

Methods: Children ≥5 years and parents of children <18 years who had undergone aortopexy completed the Paediatric Quality of Life Inventory (PedsQL4.0).

Availability, Usage, and Preferences of Estradiol and Progestogen Preparations for Puberty Induction from a Multicentral Perspective.

Introduction: Natural oestrogen administration as oral or transdermal 17β-estradiol is recommended for pubertal induction in girls with hypogonadism. However, suitable low-dose formulations are not consistently available globally. This questionnaire study aimed to identify the current availability of oestrogen and progesterone preparations worldwide.

Utilizing machine learning to facilitate the early diagnosis of posterior circulation stroke.

Background: Posterior Circulation Syndrome (PCS) presents a diagnostic challenge characterized by its variable and nonspecific symptoms. Timely and accurate diagnosis is crucial for improving patient outcomes. This study aims to enhance the early diagnosis of PCS by employing clinical and demographic data and machine learning.

Associations between unilateral amblyopia in childhood and cardiometabolic disorders in adult life: a cross-sectional and longitudinal analysis of the UK Biobank.

Background: Amblyopia is a common neurodevelopmental condition and leading cause of childhood visual impairment. Given the known association between neurodevelopmental impairment and cardiometabolic dysfunction in later life, we investigated whether children with amblyopia have increased risk of cardiometabolic disorders in adult life.

Methods: This was a cross-sectional and longitudinal analysis of 126,399 United Kingdom Biobank cohort participants who underwent ocular examination.

Integrating Subjective Recovery and Stigma Resistance in Individuals with Schizophrenia: A Narrative Review and Theoretical Integration.

Stigmatised attitudes are known to be associated with negative outcomes in schizophrenia, yet there is little focus on the role of stigma in the recovery process. Attempts to develop interventions to reduce self-stigma in schizophrenia have not been found effective. This paper presents a theoretical integration based on a narrative review of the literature.