A novel TERT variant associated with a telomere biology disorder and challenges in variant classification.

Telomere biology disorders (TBDs) are inherited conditions associated with multisystem manifestations. We describe clinical and functional characterisation of a novel TERT variant. Whole-genome sequencing was performed along with single length analysis ().

New onset of protein-losing enteropathy in a patient with Fontan circulation after COVID-19 vaccination: dread the cure or the disease?

We present the case of a 31-year-old female with Fontan circulation who developed signs of protein-losing enteropathy 10 days after second COVID-19 vaccination. After standard investigations for identification of potential triggers for protein-losing enteropathy, we concluded that coronavirus disease 2019 (COVID-19) booster vaccination could have been the most probable underlying trigger. Prompt investigation of new symptoms post-vaccination in high-risk patients is necessary.

Systematic Review of the Presentation, Treatment, and Outcome of Chronic Disseminated Candidiasis in Children with Cancer or Following Hematopoietic Cell Transplant.

Chronic disseminated candidiasis (CDC) is a rare complication of immunosuppression. This review describes the presentation, management, and outcomes of CDC in pediatric patients with cancer or following hematopoietic cell transplant (HCT). PubMed, Embase, and Medline were searched identifying 32 studies, describing 95 cases of CDC.

Lifetime Body Mass Index Trajectories and Contrasting Lung Function Abnormalities in Mid-Adulthood: Data From the Tasmanian Longitudinal Health Study.

Background And Objective: The impact of lifetime body mass index (BMI) trajectories on adult lung function abnormalities has not been investigated previously. We investigated associations of BMI trajectories from childhood to mid-adulthood with lung function deficits and COPD in mid-adulthood.

Methods: Five BMI trajectories (n = 4194) from age 5 to 43 were identified in the Tasmanian Longitudinal Health Study.

Factors associated with statural growth in pediatric kidney transplant recipients with focus on metabolic acidosis.

Background: We investigated factors associated with post-transplant growth in pediatric kidney transplant (KTx) recipients with a focus on plasma bicarbonate (HCO3) and estimated the effect of alkali treatment on growth.

Methods: In this study of the CERTAIN Registry, data were collected up to 5 years post-transplant. Generalized Additive Mixed Models were applied to assess the association between post-transplant growth and covariates.

Using Laboratory Test Results for Surveillance During a New Outbreak of Acute Hepatitis in 3-Week- to 5-Year-Old Children in the United Kingdom, the Netherlands, Ireland, and Curaçao: Observational Cohort Study.

Background: In March 2022, a concerning rise in cases of unexplained pediatric hepatitis was reported in multiple countries. Cases were defined as acute hepatitis with serum transaminases >500 U/L (aspartate transaminase [AST] or alanine transaminase [ALT]) in children aged 16 years or younger. We explored a simple federated data analytics method to search for evidence of unreported cases using routinely held data.

ISCT MSC committee statement on the US FDA approval of allogenic bone-marrow mesenchymal stromal cells.

The December 2024 US Food and Drug Administration (FDA) approval of Mesoblast's Ryoncil (remestemcel-L-rknd)-allogeneic bone marrow mesenchymal stromal cell (MSC(M)) therapy-in pediatric acute steroid-refractory graft-versus-host-disease finally ended a long-lasting drought on approved MSC clinical products in the United States. While other jurisdictions-including Europe, Japan, India, and South Korea-have marketed autologous or allogeneic MSC products, the United States has lagged in its approval. The sponsor's significant efforts and investments, working closely with the FDA addressing concerns regarding clinical efficacy and consistent MSC potency through an iterative process that spanned several years, was rewarded with this landmark approval.

Stopping of adalimumab in juvenile idiopathic arthritis-associated uveitis (ADJUST): a multicentre, double-masked, randomised controlled trial.

Background: Adalimumab is an effective treatment for juvenile idiopathic arthritis-associated uveitis. Data are scarce on the effects of discontinuing adalimumab after control of the disease had been reached. We aimed to assess efficacy and safety of discontinuing treatment in patients with juvenile idiopathic arthritis-associated uveitis.

Prognostic performance of the two-step clinical care pathway in metabolic dysfunction-associated steatotic liver disease.

Background & Aims: Current guidelines recommend a 2-step approach for risk stratification in patients with metabolic dysfunction-associated steatotic liver disease (MASLD) with Fibrosis-4 index (FIB-4) followed by liver stiffness measurement (LSM) by vibration-controlled transient elastography (VCTE) or similar second-line tests. This study aimed to examine to prognostic performance of this approach.

Methods: The VCTE-Prognosis Study was a longitudinal study of patients with MASLD who had undergone VCTE examinations at 16 centres from the US, Europe and Asia with subsequent follow-up for clinical events.

Minimal extra-cardiac atherosclerosis present in young people with sudden cardiac death due to coronary artery disease.

Aim: To define the association between severe coronary artery disease and widespread atherosclerosis in younger individuals.

Methods: Individuals aged 1-50 years with sudden cardiac death (SCD) from 2019-23, autopsy-proven to be due to coronary artery disease, were identified using the state-wide EndUCD registry. Presence of extra-coronary atherosclerosis greater than modified American Heart Association class III was assessed in 5 arterial beds (intra-cerebral vessels, aorta, carotid, renal and femoral arteries).

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.