Development of a Body of Knowledge for the Clinical Bioinformatician: Perspectives from the Association for Molecular Pathology's Clinical Genomics Bioinformatician Body of Knowledge Steering Committee.

The use of next-generation sequencing and other high-throughput technologies in the clinical molecular diagnostics laboratory requires the application of bioinformatics pipelines and other computational tools to analyze, visualize, and store these clinical data. Clinical bioinformaticians, individuals with the skills to develop, validate, and deploy these tools in a clinical setting, are needed to ensure that these molecular diagnostic technologies can be appropriately used for clinical care. Building on existing expertise in informatics, next-generation sequencing, and clinical molecular diagnostics, the Association for Molecular Pathology has generated a series to establish an initial clinical bioinformatician body of knowledge.

Lyve1-Driven Nras Causes Edema, Enlarged Lymphatic Vessels, and Hepatic Vascular Defects in Embryonic Mice.

Background: Kaposiform lymphangiomatosis (KLA) is a complex lymphatic anomaly associated with a somatic activating NRAS p.Q61R (NRAS) mutation. KLA is characterized by malformed lymphatic vessels that can lead to effusions and coagulopathy.

Real-world effectiveness and causal mediation study of BNT162b2 on long COVID risks in children and adolescents.

Background: The impact of pre-infection vaccination on the risk of long COVID remains unclear in the pediatric population. We aim to assess the effectiveness of BNT162b2 on long COVID risks with various strains of the SARS-CoV-2 virus in children and adolescents, using comparative effectiveness methods. We further explore if such pre-infection vaccination can mitigate the risk of long COVID beyond its established protective benefits against SARS-CoV-2 infection using causal mediation analysis.

Cardiovascular Disease Among Women and Birthing Individuals After Delivering a Child With Congenital Heart Disease.

Background: Individuals have a higher risk of cardiovascular disease later in life if they give birth to a child with congenital heart disease (CHD). The mechanism of this association has not been well documented.

Objectives: The authors aimed to describe the prevalence of cardiovascular disease and risk factors in women and birthing individuals 18 to 23 years after delivery of a child with CHD compared to normative data.

Achieving Medication-Free Remission in Patients With Juvenile Dermatomyositis.

Objective: Prognostic factors associated with medication discontinuation in children with juvenile dermatomyositis (JDM) remain largely elusive. We aim to identify the predictors of medication-free remission (MFR) in children with JDM.

Methods: In this retrospective study, patients diagnosed with JDM according to Peter & Bohan criteria and followed for ≥18 months at a tertiary care center from 2006 through 2022 were included.

Antiviral Use Among Children Hospitalized With Laboratory-Confirmed Influenza Illness: A Prospective, Multicenter Surveillance Study.

Background: Guidelines state that all hospitalized children with suspected or confirmed influenza receive prompt treatment with influenza-specific antivirals. We sought to determine the frequency of, and factors associated with, antiviral receipt among hospitalized children.

Methods: We conducted active surveillance of children presenting with fever or respiratory symptoms from 1 December 2016 to 31 March 2020 at 7 pediatric medical centers in the New Vaccine Surveillance Network.

Validity of Cognitive Disengagement Syndrome with Mother and Father Ratings of Brazilian Children: Replication of Northern Hemisphere Findings in South America.

Although the Child and Adolescent Behavior Inventory (CABI) cognitive disengagement syndrome (CDS) scale has demonstrated validity relative to the CABI attention-deficit/hyperactivity disorder-inattention (ADHD-IN) scale with parent ratings of youth from North America, Europe, East Asia, and Central Asia, no study has evaluated the validity of the 15 symptom CDS scale with children from South America. Our purpose was to examine for the first time the validity of the CABI CDS scale with Brazilian children. Latent variable modeling procedures were used to examine the validity of CDS scores.

A latent transfer learning method for estimating hospital-specific post-acute healthcare demands following SARS-CoV-2 infection.

The long-term complications of COVID-19, known as the post-acute sequelae of SARS-CoV-2 infection (PASC), significantly burden healthcare resources. Quantifying the demand for post-acute healthcare is essential for understanding patients' needs and optimizing the allocation of valuable medical resources for disease management. Driven by this need, we developed a heterogeneous latent transfer learning framework (Latent-TL) to generate critical insights for individual health systems in a distributed research network.

The HYdrocortisone for Bronchopulmonary Dysplasia Respiratory and Developmental (HYBRiD) outcomes study: protocol for a longitudinal cohort study.

Background: Bronchopulmonary dysplasia (BPD) affects up to half of extremely preterm infants, and is associated with adverse long-term respiratory, neurodevelopmental, and educational sequelae and costly health service and family economic outcomes. The NICHD Neonatal Research Network Hydrocortisone for Bronchopulmonary Dysplasia (BPD) Trial evaluated the efficacy and safety of hydrocortisone treatment to prevent BPD in high-risk infants. The trial enrolled 800 very preterm infants with respiratory failure and followed the participants until 2 years corrected age to assess safety of the trial intervention.

The Novel Lipid Emulsion Vegaven Is Well Tolerated and Elicits Distinct Biological Actions Compared With a Mixed-Oil Lipid Emulsion Containing Fish Oil: A Parenteral Nutrition Trial in Piglets.

Background: Vegaven is a novel lipid emulsion for parenteral nutrition (PN) based on 18-carbon n-3 (ω-3) fatty acids, which elicits liver protection via interleukin-10 (IL-10) in the murine model of PN.

Objectives: In a preclinical model of PN in neonatal piglets, Vegaven was tested for efficacy and safety and compared with a mixed-oil lipid emulsion containing fish oil (SMOFlipid).

Methods: Male piglets 4-5 d old were randomly allocated to isocaloric isonitrogenous PN for 14 d, which varied only by the type of lipid emulsion (Vegaven, n = 8; SMOFlipid, n = 8).

Implementation of the Lupus Low Disease Activity State in Pediatric Rheumatology Care: The Role of the Visual Analog Scale.

Objective: We compared the measurement properties of a traditional physician global assessment of disease activity (PhGA) 10-cm visual analog scale (PhGA) with that of the three-point numeric scale (PhGA) in childhood-onset systemic lupus erythematosus (cSLE) as part of the childhood Lupus Low Disease Activity State (cLLDAS).

Methods: We used a secondary data analysis from a convenience sample of 100 patients with cSLE followed every three months for up to seven visits. Ratings of PhGA, PhGA, parent assessment of patient well-being (ParGA) (range: 0= very poorly, 10 = very well), disease activity as measured by the SLE disease activity index 2000 (SLEDAI-2k), Safety of Estrogens in Lupus Erythematosus National Assessment (SELENA) SLEDAI, and the British Isles International Lupus Activity Group index (BILAG; A = 9, B = 3, C = 1, D/E = 0) were compared.

AI-PEDURO - Artificial intelligence in pediatric urology: Protocol for a living scoping review and online repository.

Background: Artificial intelligence (AI) and machine learning (ML) methods are increasingly being applied in pediatric urology across a growing number of settings, with more extensive databases and wider interest for use in clinical practice. More than 30 ML models have been published in the pediatric urology literature, but many lack items required by contemporary reporting frameworks to be high quality. For example, most studies lack multi-institution validation, validation over time, and validation within the clinical environment, resulting in a large discrepancy between the number of models developed versus the number of models deployed in a clinical setting, a phenomenon known as the AI chasm.

Pediatric Clinical Influenza Disease by Type and Subtype 2015-2020: A Multicenter, Prospective Study.

Background: Previous investigations into clinical signs and symptoms associated with influenza types and subtypes have not definitively established differences in the clinical presentation or severity of influenza disease.

Methods: The study population included children 0 through 17 years old enrolled at 8 New Vaccine Surveillance Network sites between 2015 and 2020 who tested positive for influenza virus by molecular testing. Demographic and clinical data were collected for study participants via parent/guardian interview and medical chart review.

Wnt5a and Notum Influence the Temporal Dynamics of Cartilaginous Mesenchymal Condensations in Developing Trachea.

The trachea is essential for proper airflow to the lungs for gas exchange. Frequent congenital tracheal malformations affect the cartilage, causing the collapse of the central airway during the respiratory cycle. We have shown that Notum, a Wnt ligand de-acylase that attenuates the canonical branch of the Wnt signaling pathway, is necessary for cartilaginous mesenchymal condensations.