Phage therapy could be key to conquering persistent bacterial lung infections in children.

Persistent bacterial lung infections in children lead to significant morbidity and mortality due to antibiotic resistance. In this paper, we describe how phage therapy has shown remarkable efficacy in preclinical and clinical studies, demonstrating significant therapeutic benefits through various administration routes. Ongoing trials are evaluating its safety and effectiveness against different pathogens.

The clinical and molecular landscape of diffuse hemispheric glioma, H3 G34-mutant.

Background: Diffuse hemispheric glioma, histone 3 (H3) G34-mutant, has been newly defined in the 2021 WHO classification of central nervous system tumors. Here we sought to define the prognostic roles of clinical, neuroimaging, pathological, and molecular features of these tumors.

Methods: We retrospectively assembled a cohort of 114 patients (median age 22 years) with diffuse hemispheric glioma, H3 G34-mutant, CNS WHO grade 4 and profiled the imaging, histological and molecular landscape of their tumors.

Pseudoprecocious puberty and gynaecomastia as presenting features of Peutz-Jeghers syndrome.

A boy in mid-childhood presented with right-sided gynaecomastia, which was excised. He represented and, on review by endocrinology, Tanner staging showed stage 2 left-sided glandular breast tissue and some features of virilisation. His testicular volumes remained prepubertal (3 mL).

Top Ten epilepsy research priorities: A UK priority setting partnership.

Purpose: Research into epilepsy has experienced decades of chronic underfunding compared to other neurological conditions despite its prevalence and seriousness. To evidence the need for greater investment, the Epilepsy Research Institute (formerly Epilepsy Research UK) funded, led and managed a James Lind Alliance (JLA) Priority Setting Partnership (PSP). This "industry standard" methodology brings together healthcare professionals, patients, carers and patient group representatives to identify and prioritise research uncertainties within a defined area of health or care.

Primary diffuse leptomeningeal atypical teratoid/rhabdoid tumours (ATRT) of childhood: a molecularly characterised case report and literature review.

Background: Atypical teratoid/rhabdoid tumours (ATRTs) are malignant central nervous system tumours, typically presenting in the posterior fossa of very young children. Prognosis remains poor despite current therapy, while tumorigenesis implicates both genomic and epigenetic dysregulation. Primary diffuse leptomeningeal (PDL) ATRT, characterised by the absence of an intraparenchymal mass lesion, is seldom reported but appears associated with a dismal outcome.

Atrial septal defect closure via a partial lower ministernotomy.

Patients with secundum atrial septal defects preferentially undergo device closure;  however, this procedure is not always feasible. Instead, patients can safely undergo surgical closure. At a time when minimally invasive surgery can now be utilized with improved cosmetic results and the same excellent outcomes as a conventional sternotomy for an atrial septal defect closure, we propose the partial lower ministernotomy as the new standard for surgical atrial septal defect closure.

Family planning and preimplantation testing: family experiences in congenital adrenal hyperplasia.

Introduction: Pre-implantation testing (PGT) is often suggested by healthcare professionals (HCP) to parents of children with congenital adrenal hyperplasia (CAH) considering subsequent children. Despite this, some families choose to conceive naturally without genetic testing and intervention. The aims of this study were to explore fertility choices of couples with a child with CAH and the decision making process and perceptions behind these choices, and to explore the families' lived experiences with CAH and the couples' subsequent fertility journey.

Wellbeing and quality of life among parents of individuals with Fontan physiology.

Purpose: To examine global and health-related quality of life (QOL) among parents of individuals with Fontan physiology and determine associations with sociodemographic, parent and child-related health, psychological, and relational factors.

Methods: Parents participating in the Australian and New Zealand Fontan Registry (ANZFR) QOL Study (N = 151, Parent Mean age = 47.9 ± 10.

A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.

Background And Hypothesis: ATP6V1B1 encodes a subunit of the vacuolar H+-ATPase and pathogenic variants are associated with autosomal recessive distal renal tubular acidosis (dRTA) with deafness. Heterozygous variants predicted to affect a specific amino acid, Arg394, have been recurrently reported in dRTA but their significance has been unclear. We hypothesised that these variants are associated with a dominant disease mechanism.

The Effect of Being Born Moderate-to-Late Preterm on Lung Function and Respiratory Morbidity at 9 to 10 Years of Age.

The effect of moderate-late preterm (MLP; 32 to 36 completed weeks' gestation) birth on childhood respiratory health is unclear. To assess the effect of being born MLP, compared with being born at term (≥37 completed weeks' gestation), on lung function and respiratory morbidity at 9-10 years of age. Prospective cohort of children born MLP or at term at the Royal Women's Hospital, Victoria, Australia.

Assessment of the Knowledge of Healthcare Professionals Regarding Radiological Examination in Lactating Mothers: A Cross-Sectional Survey Study in the Kingdom of Bahrain.

Objectives Breastfeeding is critical for a mother's health, as well as the development and survival of her infant. Healthcare personnel are a reliable source of information for breastfeeding mothers during and after radiological procedures, assuming their understanding is appropriate. As a result, this study analyzed healthcare professionals' knowledge of breastfeeding and radiological tests on lactating mothers.

Assessing the Impact of Early Nutritional Intervention on Pediatric Celiac Disease Management: A Prospective Cohort Study.

Background: Celiac disease is a chronic autoimmune condition requiring lifelong adherence to a gluten-free diet, particularly in children, to prevent nutritional deficiencies and developmental delays.

Objective: The objective of study was to evaluate the effects of early nutritional intervention on the management and health outcomes of children diagnosed with celiac disease.

Methodology: A prospective, longitudinal cohort study was conducted over two years (July 2019-July 2021).

Children's emerging concepts of resilience: insights from using body mapping in an East London cohort sample of 7-10-year-old children.

Background: Understanding resilience factors in children is essential for developing early mental health interventions. Middle childhood is an understudied developmental stage, with many quantitative measures lacking validation for this age group and not capturing diverse experiences. This study aimed to use body mapping, an arts-based method, as a novel approach to understand 7-10-year-old children's concepts of resilience (including definitions and factors that contribute to resilience) in East London.

Palovarotene in fibrodysplasia ossificans progressiva: review and perspective.

Introduction: Palovarotene is a retinoic acid receptor gamma agonist that was studied in phase-2 and phase-3 clinical trials for the inhibition of new heterotopic ossification (HO) in fibrodysplasia ossificans progressiva (FOP). Despite numerous setbacks and regulatory delays, palovarotene is now the first approved FOP treatment in the U.S.

How do staff work in NHS hospital operations management meetings to support resilience in everyday service delivery? A qualitative study.

Background: Operations Management meetings in NHS hospitals provide an opportunity for operational and clinical staff to monitor demand and capacity and manage patient flow. These meetings play an important role in the achievement of resilient performance over time. However, little is known about the work that takes place within these meetings in the United Kingdom's National Health Service.

Loss of KAT6B causes premature ossification and promotes osteoblast differentiation during development.

The MYST family histone acetyltransferase gene, KAT6B (MYST4, MORF, QKF) is mutated in two distinct human congenital disorders characterised by intellectual disability, facial dysmorphogenesis and skeletal abnormalities; Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome and Genitopatellar syndrome. Despite its requirement in normal skeletal development, the cellular and transcriptional effects of KAT6B in skeletogenesis have not been thoroughly studied. Here, we show that germline deletion of the Kat6b gene in mice causes premature ossification in vivo, resulting in shortened craniofacial elements and increased bone density, as well as shortened tibias with an expanded pre-hypertrophic layer, as compared to wild type controls.

Hepatopulmonary syndrome from liver disease associated with autosomal recessive polycystic kidney disease.

Hepatopulmonary syndrome (HPS) is a life-threatening complication of chronic liver disease (CLD) that currently can be managed only by liver transplant. Though uncommon, some children with kidney disease have coexistent CLD and hence are at risk of developing HPS. Paediatric cases of HPS are rarely described in the nephrology literature.

Navigating HPV Vaccination: a Qualitative Study on Chinese Women's Decision-Making Experiences.

This qualitative study explores the decision experiences of adult women regarding HPV vaccination, highlighting their decision needs, outcomes, and expected support. A qualitative descriptive study design was used. A semi-structured interview guide based on the Ottawa Decision Support Framework (ODSF) was used to interview Chinese women (aged 18 to 45).

Proposed resources required for a comprehensive program for CCT CHD imaging.

Background: Cardiac Computed Tomography (CCT) is increasingly used for evaluation of congenital heart disease (CHD) in patients of all ages. Pediatric and adult congenital heart disease (ACHD) surgical programs require high quality CCT imaging as part of the multimodality imaging support expected of comprehensive care centers. Despite these expectations, there are no benchmarks or defined programmatic elements specific to the performance of CCT in patients with CHD.

Antibiotic treatment versus appendicectomy for acute appendicitis in adults: an individual patient data meta-analysis.

Background: Randomised controlled trials (RCTs) have found antibiotics to be a feasible and safe alternative to appendicectomy in adults with imaging-confirmed acute appendicitis. However, patient inclusion criteria and outcome definitions vary greatly between RCTs. We aimed to compare antibiotics with appendicectomy for the treatment of acute appendicitis using individual patient data and uniform outcome definitions.