Exploring the impact of professional development about family-centred service for health professionals working in paediatric disability: a scoping review.

Purpose: To explore the impact of family-centred service education on the knowledge, attitudes, self-efficacy, and practice of service providers working in paediatric disability.

Materials And Methods: The review was conducted in accordance with the Joanna Briggs Institute methodology for scoping reviews. The search strategy was completed in seven electronic databases.

Blurring the lines: an empirical examination of the interrelationships among acceptability, appropriateness, and feasibility.

Background: Acceptability, appropriateness, and feasibility are established implementation outcomes used to understand stakeholders' perceptions of an intervention. Further, they are thought to provide insight into behaviors, such as adoption. To date, measurement instruments for the three outcomes have focused on their individual assessment whilst nodding to the idea that they may interrelate.

Standardized study performance, quality assurance, and quality control in a cluster-randomized trial: the Pneumococcal Vaccine Schedules trial.

Randomized controlled trials are considered the "gold standard" for evaluating the effectiveness of an intervention. However, large-scale, cluster-randomized trials are complex and costly to implement. The generation of accurate, reliable, and high-quality data is essential to ensure the validity and generalizability of findings.

Bile acids in the lower airways is associated with airway microbiota changes in chronic obstructive pulmonary disease: an observational study.

Background: Chronic obstructive pulmonary disease (COPD) is a complex disorder with a high degree of interindividual variability. Gastrointestinal dysfunction is common in patients with COPD and has been proposed to influence the clinical progression of the disease. Using the presence of bile acid(s) (BA) in bronchoalveolar lavage (BAL) fluid as a marker of gastric aspiration, we evaluated the relationships between BAs, clinical outcomes and bacterial lung colonisation.

Offering reproductive genetic carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome: Views of Victorian general practitioners.

Background And Objectives: The Royal Australian College of General Practice recommends that all women contemplating pregnancy or in early pregnancy should be offered reproductive genetic carrier screening (RGCS). In November 2023, a new Medicare item number was introduced for RGCS to detect cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS) carrier status. The role of general practice in offering RGCS is recognised as being of crucial importance, but only a minority of general practitioners (GPs) are offering such screening.

Patient-reported outcomes of Children with an Anorectal Malformation.

Objective: We aimed to study the impact of anorectal malformation (ARM) type and sacral ratio on continence outcomes in children. We secondarily aimed to compare continence outcomes by age group and determine quality of life (QoL) with different bowel regimens.

Summary Background Data: Children with ARM experience dysfunctional stooling into adulthood.

Machine Learning-Based Prediction Model for ICU Mortality After Continuous Renal Replacement Therapy Initiation in Children.

Background: Continuous renal replacement therapy (CRRT) is the favored renal replacement therapy in critically ill patients. Predicting clinical outcomes for CRRT patients is difficult due to population heterogeneity, varying clinical practices, and limited sample sizes.

Objective: We aimed to predict survival to ICUs and hospital discharge in children and young adults receiving CRRT using machine learning (ML) techniques.

Efficacy, safety, and quality of life 4 years after valoctocogene roxaparvovec gene transfer for severe hemophilia A in the phase 3 GENEr8-1 trial.

Background: Valoctocogene roxaparvovec, an adeno-associated virus-mediated gene therapy for severe hemophilia A, enables endogenous factor (F)VIII expression and provides bleed protection.

Objectives: Determine valoctocogene roxaparvovec durability, efficacy, and safety 4 years after treatment.

Methods: In the phase 3 GENEr8-1 trial, 134 adult male persons with severe hemophilia A without inhibitors and previously using FVIII prophylaxis received a 6 × 10 vg/kg infusion of valoctocogene roxaparvovec.

Bleeding disorder of unknown cause: an illustrated review on current practice, knowledge gaps, and future perspectives.

In more than half of the individuals with a clinically relevant bleeding tendency who are referred to hemostasis experts, no biological etiology can be found after extensive laboratory testing. These persons are diagnosed with an unexplained bleeding tendency or "bleeding disorder of unknown cause" (BDUC). The mucocutaneous bleeding phenotype of individuals with BDUC is generally comparable to that of individuals with inherited bleeding disorders such as von Willebrand disease or platelet function disorders.

Polygenic risk scores and embryonic screening: considerations for regulation.

Polygenic risk scores (PRSs) have recently been used to inform reproductive decision-making in the context of embryonic screening. While this is yet to be widespread, it is contested and raises several challenges. This article provides an overview of some of the ethical considerations that arise with using PRSs for embryo screening and offers a series of regulatory considerations for jurisdictions that may wish to permit this in the future.

The implementation of infant pain practice change resource to improve infant procedural pain practices: a hybrid type 1 effectiveness-implementation study.

Implementation of infant pain practice change (ImPaC) is a multifaceted web-based resource to support pain practice change in neonatal intensive care unit (NICU). We evaluated the (1) intervention effectiveness and (2) implementation effectiveness of ImPaC using a hybrid type 1 effectiveness-implementation study (ie, cluster randomized controlled trial and longitudinal descriptive study). Eligible level 2 and 3 Canadian NICUs were randomized to intervention (INT) or waitlisted to usual care (UC) for 6 months.

Consultation informs strategies to improve functional evidence use in variant classification.

To determine if a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Experimental assay data can provide strong functional evidence for or against pathogenicity in variant classification, but appears to be underutilised. We surveyed genetic diagnostic professionals in Australasia to assess their application of functional evidence in clinical practice.

Cost-effectiveness of Oral Immunotherapy for Egg Allergy According to Age of Therapy Commencement.

Background: Egg oral immunotherapy (OIT) can induce desensitization or remission of egg allergy in children.

Objective: To determine the cost-effectiveness of OIT for raw egg allergy in school-age children compared with egg avoidance, and the most cost-effective age at which to commence treatment.

Methods: A decision-analytic Markov model estimated the health and cost outcomes of 1,000 children aged 4 years with egg allergy, comparing different ages of OIT commencement (ages 4-12, inclusive) versus ongoing egg avoidance.

The association between prenatal antibiotic exposure and adverse long-term health outcomes in children: A systematic review and meta-analysis.

Background: Antibiotics are the most commonly prescribed drugs during pregnancy. The long-term health risks to children associated with prenatal antibiotic exposure are uncertain.

Objective: To identify the association between prenatal antibiotics and adverse long-term health outcomes in children.

Status of surface electromyography assessment as part of clinical gait analysis in the management of patients with cerebral palsy - Outcomes of a Delphi process.

Background: The assessment of gait disorders in patients with neuromotor conditions, such as cerebral palsy (CP), has been a focus of clinical and research attention, with electromyography (EMG) offering a nuanced understanding of neurological and neuromuscular disorders. However, the interpretation of EMG data in the context of gait analysis remains challenging due to the complexity of neuromotor dynamics and variability in assessment methodologies.

Research Question: To which consensus can we get in a group of experts in the fields of neurological and neuromuscular disorders, biomechanics, and clinical gait analysis to establish standardized protocols and a common language for the measurement and analysis of EMG data in gait disorders, particularly in people living with CP?

Methods: A three-round Delphi process was conducted from February to September 2023 to gather opinions of 53 experts on the use of surface EMG data during gait in the context of CP.

Is COVID-19 infection during pregnancy a risk for congenital hearing loss?

Objective: Infections during pregnancy can increase the risk of congenital hearing loss. This population-based study investigated the effect of birthing parent COVID-19 infection during pregnancy on risk of congenital hearing loss in infants.

Methods: Records of infants born in 2022 were reviewed via a retrospective clinical audit of a universal state-wide newborn hearing screening program in Victoria, Australia.

Interpersonal counselling for adolescent depression delivered by youth mental health workers without core professional training: the ICALM feasibility RCT.

Background: As milder cases of adolescent depression do not meet treatment thresholds for specialist mental health services, young people often receive support from non-qualified professionals in third-sector/voluntary agencies. Early psychological interventions to meet growing demand with limited resources are crucial.

Objectives: The study aimed to explore the effectiveness and cost effectiveness of interpersonal counselling for adolescents by (1) assessing the feasibility and acceptability of trial procedures; (2) exploring the delivery of, and differences between, interpersonal counselling for adolescents and treatment as usual; (3) evaluating the extent of contamination of the control arm and if it should be mitigated against in a future trial; and (4) investigating whether the interval estimate of benefit of interpersonal counselling for adolescents over treatment as usual in depression post treatment includes a clinically significant effect.

Experiences of participation in daily life of adolescents and young adults with cerebral palsy: A scoping review.

Aim: To synthesize the experiences of 15- to 34-year-olds with cerebral palsy (CP) as they participate in key life situations of young adulthood.

Method: A mixed-methods scoping review was undertaken and six electronic databases searched (January 2001 to August 2023). Participation foci and thematic outcomes were mapped to the International Classification of Functioning, Disability and Health.

Testicular sex cord-stromal tumors in mice with constitutive activation of PI3K and loss of Pten.

Testicular tumors are the most common malignancy of young men and tumors affecting the testis are caused by somatic mutations in germ or germ-like cells. The PI3K pathway is constitutively activated in about one third of testicular cancers. To investigate the role of the PI3K pathway in transforming stem-like cells in the testis, we investigated tumors derived from mice with post-natal, constitutive activation of PI3K signaling and homozygous deletion of tumor suppressor Pten, targeted to nestin expressing cells.