Evidence-based diagnostic prediction score for pediatric NMDA receptor encephalitis.

Objective: Early diagnosis and treatment of anti-N-methyl-D-aspartate receptor encephalitis (NMDARE) are crucial for a favorable prognosis. Detecting the causative autoantibodies can be challenging. Probable diagnostic criteria are useful in adults less so in children.

Dynamic contrast-enhanced magnetic resonance lymphangiography: a simple algorithm for image interpretation.

Dynamic contrast-enhanced magnetic resonance lymphangiography is a high-resolution imaging technique that has emerged as the preferred method for evaluating lymphatic anatomy and flow dynamics due to its precise anatomical detail. The lymphatic system has a complex anatomical distribution, and variability is common among individuals with cardiac abnormalities, particularly congenital heart disease. Lymphatic imaging has recently been revolutionized by the introduction of MR lymphangiography.

Rare dysfunctional SCN2A variants are associated with malformation of cortical development.

Objective: SCN2A encodes the voltage-gated sodium (Na+) channel α subunit Na1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders.

Use of blended feeds in children requiring tube feeding.

Aim: The use of blended tube feeding (BTF) in children is a controversial area with persistent concerns regarding the nutritional adequacy and risk of associated infections and equipment complications. Parents in Australia are electing to use BTF in their children despite local hospital guidelines, calling for further research to support its use.

Methods: A retrospective case-series study was conducted at a tertiary paediatric hospital, to characterise the paediatric population electively using BTF and evaluate their clinical outcomes.

Intracranial multimodal monitoring in neurocritical care (Neurocore-iMMM): an open, decentralized consensus.

Background: Intracranial multimodal monitoring (iMMM) is increasingly used in neurocritical care, but a lack of standardization hinders its evidence-based development. Here, we devised core outcome sets (COS) and reporting guidelines to harmonize iMMM practices and research.

Methods: An open, decentralized, three-round Delphi consensus study involved experts between December 2023 and June 2024.

Cardiac surgery with valve replacement temporarily disrupts the hippocampal memory network.

Background: Systemic inflammation after heart valve replacement surgery commonly results in complications including cognitive impairment. This study was designed to investigate whether valvular heart disease itself and inflammation after valve replacement surgery affects cognition and the related functional connectivity (FC) of the hippocampal memory network.

Methods: Forty-three patients with valvular heart disease were screened for recruitment and assessed with cognition function tests, blood inflammatory cytokine measurements, and functional magnetic resonance imaging scans before surgery and on postoperative day 7 and 30.

Spiritual care in palliative medicine: interactive, virtual workshop for specialists.

Background: Spiritual pain and distress are commonly unrecognised among patients receiving palliative care, yet engaging with a person's spirituality can allow healing to occur even amid suffering. Palliative care clinicians lack training in assessing and managing spiritual distress among patients.

Objectives: Development of a virtually delivered spirituality workshop to improve clinicians' understanding of their own spirituality and confidence in addressing the spiritual dimension of patients' experience.

Evaluating post-cardiac arrest blood pressure thresholds associated with neurologic outcome in children: Insights from the pediRES-Q database.

Background: Current Pediatric Advanced Life Support Guidelines recommend maintaining blood pressure (BP) above the 5th percentile for age following return of spontaneous circulation (ROSC) after cardiac arrest (CA). Emerging evidence suggests that targeting higher thresholds, such as the 10th or 25th percentiles, may improve neurologic outcomes. We aimed to evaluate the association between post-ROSC BP thresholds and neurologic outcome, hypothesizing that maintaining mean arterial pressure (MAP) and systolic blood pressure (SBP) above these thresholds would be associated with improved outcomes at hospital discharge.

Training machine learning models to detect rare inborn errors of metabolism (IEMs) based on GC-MS urinary metabolomics for diseases screening.

Background: Gas chromatography-mass spectrometry (GC-MS) has been shown to be a potentially efficient metabolic profiling platform in urine analysis. However, the widespread use of GC-MS for inborn errors of metabolism (IEM) screening is constrained by the rarity of IEM in population, and the difficult and specialized complexity of the interpretation of GC-MS organic acid profiles.

Methods: Based on 355,197 GC-MS test cases accumulated from 2013 to 2021 in China, a random forest-based machine learning model was proposed, trained, and evaluated.

Adverse Reaction Reporting for Naxitamab in Chinese Expanded Access Treatment for Relapsed/Refractory High-Risk Neuroblastoma at the Children's Hospital of Fudan University.

Background: The humanized anti-disialoganglioside-2 monoclonal antibody naxitamab was approved in the USA in 2020 for the treatment of patients with relapsed/refractory high-risk neuroblastoma, limited to the bone or bone marrow, in combination with granulocyte-macrophage colony-stimulating factor. Treatment with naxitamab under expanded access was initiated by physicians from the Children's Hospital of Fudan University, Shanghai, China, in August 2021.

Objective: We reviewed all suspected adverse reactions (ARs) reported to the Y-mAbs Argus Global Pharmacovigilance Safety Database for patients treated with naxitamab under expanded access in China from 1 August 2021 to 31 July 2022.

Accelerated Infant Brain Rhythm Maturation in Autism.

Electroencephalography (EEG) captures characteristic oscillatory shifts in infant brain rhythms over the first year of life, offering unique insights into early functional brain development and potential markers for detecting neural differences associated with autism. This study used functional principal component analysis (FPCA) to derive dynamic markers of spectral maturation from task-free EEG recordings collected at 3, 6, 9, and 12 months from 87 infants, 51 of whom were at higher likelihood of developing autism due to an older sibling diagnosed with the condition. FPCA revealed three principal components explaining over 96% of the variance in infant power spectra, with power increases between 6 and 9 Hz (FPC1) representing the most significant age-related trend, accounting for more than 71% of the variance.

The financial impact of MD-PhD training compared with MD training for academic physicians.

To reduce debt burden and encourage the pursuit of research-focused careers, most MD-PhD programs provide medical school tuition remission and an annual stipend. However, prolonged training compared with MD physicians postpones the time until MD-PhD physicians earn a full salary. We compared lifetime earning potential for MD-PhD physicians in academia with their MD colleagues in the same clinical specialty.

Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome.

Background: Down syndrome (DS) is the most common congenital neurodevelopmental disorder, present in about 1 in every 700 live births. Despite its prevalence, literature exploring the neurobiology underlying DS and how this neurobiology is related to behavior is limited. This study fills this gap by examining cortical volumes and behavioral correlates in school-age children with DS.

Prevalence, management, health-care burden, and 90-day outcomes of prolonged mechanical ventilation in the paediatric intensive care unit (LongVentKids): an international, prospective, cross-sectional cohort study.

Background: The number of children requiring prolonged mechanical ventilation (PMV) has increased with the advancement of medical care. We aimed to estimate the prevalence of PMV worldwide, document demographic and clinical characteristics of children requiring PMV in paediatric intensive care units (PICUs), and to understand variation in clinical practice and health-care burden.

Methods: This international, multicentre, cross-sectional cohort study screened participating PICUs in 28 countries for children aged >37 postgestational weeks to 17 years who had been receiving mechanical ventilation (MV; invasive or non-invasive) for at least 14 consecutive days.

Sex and gender as predictors for allograft and patient-relevant outcomes after kidney transplantation.

Background: Sex, as a biological construct, and gender, defined as the cultural attitudes and behaviours attributed by society, may be associated with allograft loss, death, cancer, and rejection. Other factors, such as recipient age and donor sex, may modify the association between sex/gender and post-transplant outcomes.

Objectives: We sought to evaluate the prognostic effects of recipient sex and, separately, gender as independent predictors of graft loss, death, cancer, and allograft rejection following kidney or simultaneous pancreas-kidney (SPK) transplantation.

Petagraph: A large-scale unifying knowledge graph framework for integrating biomolecular and biomedical data.

Over the past decade, there has been substantial growth in both the quantity and complexity of available biomedical data. In order to more efficiently harness this extensive data and alleviate challenges associated with integration of multi-omics data, we developed Petagraph, a biomedical knowledge graph that encompasses over 32 million nodes and 118 million relationships. Petagraph leverages more than 180 ontologies and standards in the Unified Biomedical Knowledge Graph (UBKG) to embed millions of quantitative genomics data points.

Supporting equitable cervical cancer elimination for Australia's culturally and linguistically diverse communities: A call for intersectoral action.

Cervical cancer is a preventable disease and is related to persistent health equities. Whilst several priority populations face health inequities related to cervical cancer prevention, my co-authors and I bring special attention to those who identify as culturally and linguistically diverse (CALD). By reflecting on some of our research and work experiences, we propose four ways that governments and policymakers can enact the community engagement goals of the published and proposed cervical cancer prevention and treatment strategies for CALD communities.

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants.

CKAP4 in hepatocellular carcinoma: competitive RETREG1/FAM134B binding, reticulophagy regulation, and cancer progression.

RETREG1/FAM134B is known for its role as a reticulophagy receptor. Our previous study established that RETREG1 is upregulated in hepatocellular carcinoma (HCC) and contributes to disease progression by activating the AKT signaling pathway. However, the specific mechanisms underlying the elevated expression of RETREG1 in HCC remain unclear.

Genome Instability and Senescence Are Markers of Cornelia de Lange Syndrome Cells.

Cornelia de Lange syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder. Pathogenic variants in genes encoding the structural subunits and regulatory proteins of the cohesin complex (, , , , and ) are the primary contributors to the pathogenesis of CdLS. Pathogenic variations in these genes disrupt normal cohesin function, leading to the syndrome's diverse and complex clinical presentation.

Caregiver Experiences with Prescribed Antibiotic Access After a Pediatric Emergency Department Visit: A Qualitative Study.

Objective: Approximately one third of caregivers do not obtain a prescribed medication after their child's pediatric emergency department visit. We sought to explore the facilitators and barriers that caregivers experience in accessing prescribed antibiotics after their child's pediatric emergency department visit.

Methods: We conducted semi-structured interviews with caregivers of children who presented to a quaternary academic pediatric emergency department and were discharged with prescribed antibiotics.

Identification of an early subset of cerebellar nuclei neurons in mice.

Cerebellar nuclei (CN) neurons serve as the primary output of the cerebellum and originate from the cerebellar primordium at early stages of cerebellar development. These neurons are diverse, integrating information from the cerebellar cortex and relaying it to various brain regions. Employing various methodologies, we have characterized a specific subset of CN neurons that do not originate from the rhombic lip or ventricular zone of the cerebellar primordium.