Advances in Cardiovascular Multimodality Imaging in Patients with Marfan Syndrome.

Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, often leading to cardiovascular complications such as aortic aneurysms and mitral valve prolapse. Cardiovascular multimodality imaging plays a crucial role in the diagnosis, monitoring, and management of MFS patients. This review explores the advancements in echocardiography, cardiovascular magnetic resonance (CMR), cardiac computed tomography (CCT), and nuclear medicine techniques in MFS.

Adapt to survive and thrive: the time is now for adaptive platform trials for preterm birth.

In this Viewpoint, we discuss the challenges facing perinatal clinical researchers, many of which are unique to this field, and how traditional two-arm randomised trials using frequentist analysis might no longer be fit for purpose for perinatology. We propose a solution: the adoption of adaptive platform trials (APTs) with Bayesian methodology to address perinatal research questions to improve outcomes of preterm birth. APTs use a master protocol as a foundation to efficiently assess multiple interventions simultaneously for a particular disease.

Admission to acute medical wards for mental health concerns among children and young people in England from 2012 to 2022: a cohort study.

Background: There are challenges in providing high quality care for children and young people who are admitted to acute medical wards for mental health concerns. Although there is concern that these admissions are increasing, national data describing these patterns are scarce. We aimed to describe trends in these admissions in England over a 10-year period, and to identify factors associated with repeat admission and length of stay.

Characteristics of children and adolescents with multidrug-resistant and rifampicin-resistant tuberculosis and their association with treatment outcomes: a systematic review and individual participant data meta-analysis.

Background: There are few data on the treatment of children and adolescents with multidrug-resistant (MDR) or rifampicin-resistant (RR) tuberculosis, especially with more recently available drugs and regimens. We aimed to describe the clinical and treatment characteristics and their associations with treatment outcomes in this susceptible population.

Methods: We conducted a systematic review and individual participant data meta-analysis.

Accessory uterine cavities: a review of cases and an appeal for standard terminology.

Objective: To study and address the diagnostic, management, and classification challenges of unilocular myometrial cystic lesions adjacent to a normal uterine cavity.

Design: Describe 23 further cases, and undertake a systematic review using Medline, PubMed and Ovid for similar lesions.

Subjects: 23 cases of accessory uterine cavities presenting to pediatric and adolescent gynecologists in Australia and New Zealand.

Paediatric strategy forum for medicinal product development in diffuse midline gliomas in children and adolescents ACCELERATE in collaboration with the European Medicines Agency with participation of the Food and Drug Administration.

Fewer than 10 % of children with diffuse midline glioma (DMG) survive 2 years from diagnosis. Radiation therapy remains the cornerstone of treatment and there are no medicinal products with regulatory approval. Although the biology of DMG is better characterized, this has not yet translated into effective treatments.

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Unlabelled: Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders.

Objective: To better understand the presentation and clinical needs of the under-characterized extreme end of the congenital titinopathy severity spectrum.

Methods: We comprehensively analyzed the clinical, imaging, pathology, autopsy, and genetic findings in 15 severely affected individuals from 11 families.

Perceived barriers to paediatric palliative care in a Palestinian children's hospital.

Background: This study aimed to identify barriers to paediatric palliative care provision at one Palestinian paediatric hospital, elucidate reasons for the barriers, provide recommendations for enhancing care and identify topics for future research in other low-to middle-income countries.

Methods: A mixed-method cross-sectional study, employing both quantitative and qualitative methods was conducted, involving 61 healthcare professionals at a paediatric hospital in Palestine. Data collection consisted of 58 participants completing an electronic survey, while three healthcare professionals participated in semi-structured interviews.

Assessing the Efficacy of Pyrolysis-Gas Chromatography-Mass Spectrometry for Nanoplastic and Microplastic Analysis in Human Blood.

Humans are constantly exposed to micro- and nanosized plastics (MNPs); however, there is still limited understanding of their fate within the body, partially due to limitations with current analytical techniques. The current study assessed the appropriateness of pyrolysis-gas chromatography-mass spectrometry (Py-GC-MS) analysis for the quantification of a range of polymers in human blood. An extraction protocol that reduced matrix interferences (false positives) of polyethylene (PE) and polyvinyl chloride (PVC) was developed and validated.

Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy.

Background: Females with hypertrophic cardiomyopathy present at a more advanced stage of the disease and have a higher risk of heart failure and death. The factors behind these differences are unclear. We aimed to investigate sex-related differences in clinical and genetic factors affecting adverse outcomes in the Sarcomeric Human Cardiomyopathy Registry.

Assessing paediatric blood culture quality: surveys of clinician and laboratory practices in Australia and New Zealand.

Paediatric blood cultures are vital for the diagnosis of paediatric bloodstream infections. Quality of paediatric blood culture collection, processing and reporting depend on multiple factors, with a paucity of literature describing these in practice. We conducted separate surveys of clinicians and laboratory staff to assess quality standards and knowledge related to paediatric blood culture collection, analysis, and interpretation to identify improvement opportunities.

The Role of Sex and Gender in Acute Kidney Injury - Consensus Statements from the 33 Acute Disease Quality Initiative.

Sex differences exist in acute kidney injury (AKI), and the role that sex and gender play along the AKI care continuum remains unclear. The 33 Acute Disease Quality Initiative meeting evaluated available data on the role of sex and gender in AKI and identified knowledge gaps. Data from experimental models, pathophysiology, epidemiology, clinical care, gender, social determinants of health, education, and advocacy were reviewed.

Evaluation of adherence to the Preferred Reporting of CasE Series in Surgery (PROCESS) 2020 guideline in case series describing endovascular management of vein of Galen malformation demonstrates suboptimal reporting practices.

Background: Interventional neuroradiology is a dynamic field with technological advancements constantly driving evolution in clinical practice. Case series provide interventional neuroradiologists the opportunity to describe the clinical implications of novel equipment and techniques almost in real-time, informing broader adoption and directing future research. Complete reporting in case series is vital in enabling readers to detect bias, determine the generalizability of results and replicate study methodology.

Quality of life and return to work rates in the first two years following major burn injury.

Background: A better understanding of how major burns patients recover following injury is vital in assessing trauma care and informing healthcare and rehabilitation provision. We aimed to describe the longer-term health and return to work status of major burns patients and identify factors associated with positive outcomes i.e.

Precision Oncology: A Global Perspective on Implementation and Policy Development.

Despite the acknowledged merits of precision oncology (PO) and its increasing global implementation, its full potential for advancing care and prevention remains unrealized. The benefits are currently accessible to only limited patient segments because of multifaceted barriers. Successful implementation hinges on various factors-scientific complexities not limited to technical, clinical, regulatory, economic, administrative, and health care policy-related challenges.

Whole-Heart Histological and CMR Validation of Electroanatomic Mapping by Multielectrode Catheters in an Ovine Model.

Background: Accurate electroanatomic mapping is critical for identifying scar and the long-term success of ventricular tachycardia ablation.

Objectives: This study sought to determine the accuracy of multielectrode mapping (MEM) catheters to identify scar on cardiac magnetic resonance (CMR) and histopathology.

Methods: In an ovine model of myocardial infarction, we examined the effect of electrode size, spacing, and mapping rhythm on scar identification compared to CMR and histopathology using 5 multielectrode mapping catheters.

Multidimensional, integrative profiling identifies BCL2L1 methylation as a predictor of MCL1 dependency in pediatric malignancies.

Pediatric high-grade gliomas (pHGGs) are the most aggressive brain tumors in children, necessitating innovative therapies to improve outcomes. Unlike adult gliomas, recent research reveals that childhood gliomas have distinct biological features, requiring specific treatment strategies. Here, we focused on deciphering unique genetic dependencies specific to childhood gliomas.

Adaptive functioning in children and young adults with monogenic neurodevelopmental disorders.

Aim: To examine the adaptive behaviour profiles of children with monogenic neurodevelopmental disorders (NDDs) to determine whether syndrome-specific or transdiagnostic approaches provide a better understanding of the adaptive behavioural phenotypes of these NDDs.

Method: This cross-sectional study included parents and caregivers of 243 (48% female) individuals (age range = 1-25 years; mean = 8 years 10 months, SD = 5 years 8 months) with genetically confirmed monogenic NDDs (CDK13, DYRK1A, FOXP2, KAT6A, KANSL1, SETBP1, BRPF1, and DDX3X). Parents and caregivers completed the Vineland Adaptive Behavior Scales, Third Edition to assess communication, daily living, socialization, and motor skills.

Lymph Node Staging and Treatment in Pediatric Patients With Soft Tissue Sarcomas: A Consensus Opinion from the Children's Oncology Group, European paediatric Soft tissue sarcoma Study Group, and the Cooperative Weichteilsarkom Studiengruppe.

Accurate staging of nodal involvement in pediatric sarcoma patients is important to determine correct systemic and local therapy, with the goal to reduce subsequent recurrences. However, differences in lymph node staging strategies, definitions, and treatment protocols between the Children's Oncology Group (COG), European paediatric Soft tissue sarcoma Study Group (EpSSG), and the Cooperative Weichteilsarkom Studiengruppe (CWS) complicate comparisons. In this article, we aim to establish internationally recognized recommendations for lymph node assessment and treatment of children and adolescents diagnosed with rhabdomyosarcoma (RMS) and non-rhabdomyosarcoma soft tissue sarcoma (NRSTS) according to the Consensus Conference Standard Operating Procedure methodology.

The Kids Pain Collaborative: A Hybrid Type 3 Implementation Effectiveness Study Transforming Paediatric Pain Care in the Emergency Department.

Aim: To evaluate the impact of a participatory, action-oriented implementation study, guided by the integrated Promoting Action on Research Implementation in Health Services framework, for optimising pain care processes in a tertiary paediatric emergency department.

Design: Hybrid type 3 implementation effectiveness.

Methods: A collaborative appraisal of the context and culture of pain care informed two interdependent action cycles: Enabling nurse-initiated analgesia and involving families in pain care.

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.