The impact of climate change on vulnerable populations in pediatrics: opportunities for AI, digital health, and beyond-a scoping review and selected case studies.

Climate change critically impacts global pediatric health, presenting unique and escalating challenges due to children's inherent vulnerabilities and ongoing physiological development. This scoping review intricately intertwines the spheres of climate change, pediatric health, and Artificial Intelligence (AI), with a goal to elucidate the potential of AI and digital health in mitigating the adverse child health outcomes induced by environmental alterations, especially in Low- and Middle-Income Countries (LMICs). A notable gap is uncovered: literature directly correlating AI interventions with climate change-impacted pediatric health is scant, even though substantial research exists at the confluence of AI and health, and health and climate change respectively.

Increased serum GM-CSF at diagnosis of biliary atresia is associated with improved biliary drainage.

Background: The immune heterogeneity of biliary atresia (BA) presents a challenge for development of prognostic biomarkers. This study aimed to identify early immune signatures associated with biliary drainage after Kasai Portoenterostomy (KPE).

Methods: Serum samples, liver slides, and clinical data were obtained from patients enrolled in the NIDDK-supported Childhood Liver Disease Research Network.

Hallmark discoveries in the biology of non-Wilms tumour childhood kidney cancers.

Approximately 20% of paediatric and adolescent/young adult patients with renal tumours are diagnosed with non-Wilms tumour, a broad heterogeneous group of tumours that includes clear-cell sarcoma of the kidney, congenital mesoblastic nephroma, malignant rhabdoid tumour of the kidney, renal-cell carcinoma, renal medullary carcinoma and other rare histologies. The differential diagnosis of these tumours dates back many decades, when these pathologies were identified initially through clinicopathological observation of entities with outcomes that diverged from Wilms tumour, corroborated with immunohistochemistry and molecular cytogenetics and, subsequently, through next-generation sequencing. These advances enabled near-definitive recognition of different tumours and risk stratification of patients.

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.

Dysregulation of genes encoding the homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases has been linked to cancer and structural birth defects. One member of this family, the HECT-domain-containing protein 1 (HECTD1), mediates developmental pathways, including cell signaling, gene expression, and embryogenesis. Through GeneMatcher, we identified 14 unrelated individuals with 15 different variants in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant) with neurodevelopmental disorders (NDDs), including autism, attention-deficit/hyperactivity disorder, and epilepsy.

Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact.

Neurodevelopmental impairments associated with congenital heart disease (CHD) may arise from perturbations in brain developmental pathways, including the formation of sulcal patterns. While genetic factors contribute to sulcal features, the association of noncoding variants (ncDNVs) with sulcal patterns in people with CHD remains poorly understood. Leveraging deep learning models, we examined the predicted impact of ncDNVs on gene regulatory signals.

Descriptive Epidemiology of Complete ACL Tears in the Skeletally Immature Population: A Prospective Multicenter PLUTO Study.

Background: Anterior cruciate ligament (ACL) injuries are common in pediatric and adolescent patients. Understanding this population's injury characteristics and treatment strategies is vital for managing this high-risk group.

Purpose: To report the descriptive epidemiology and treatment strategies of a large cohort of skeletally immature patients with complete ACL tears.

Hepatosplenic T-cell lymphoma in children and adolescents.

Hepatosplenic T-cell lymphoma (HSTCL) is an aggressive mature T-cell lymphoma characterized by significant hepatosplenomegaly, bone marrow involvement, and minimal or no lymphadenopathy. Primarily affecting young adults, it is exceptionally rare in children and adolescents. This makes diagnosis and treatment particularly challenging for pathologists and pediatric oncologists.

Topical review: family psychosocial risk screening and social determinants of health assessment.

Objective: Social-ecological factors are highly congruent with social determinants of health (SDOH): Economic Stability; Educational Access/Quality; Healthcare Access/Quality; Neighborhood/Built Environment; and Social/Community Context. In this topical review, the correspondence of social-ecological theory with SDOH and assessment approaches is reviewed. The Psychosocial Assessment Tool (PAT) is used to show how existing tools may facilitate SDOH screening.

A compendium of Amplification-Related Gain Of Sensitivity genes in human cancer.

While the effect of amplification-induced oncogene expression in cancer is known, the impact of copy-number gains on "bystander" genes is less understood. We create a comprehensive map of dosage compensation in cancer by integrating expression and copy number profiles from over 8000 tumors in The Cancer Genome Atlas and cell lines from the Cancer Cell Line Encyclopedia. Additionally, we analyze 17 cancer open reading frame screens to identify genes toxic to cancer cells when overexpressed.

Global transcriptome profiling of ST09 treated breast cancer cells identifies miR-197-5p/GPX3 antioxidant axis as a regulator of tumorigenesis.

ROS (Reactive Oxygen Species) has a dual role in tumorigenesis. Some cancers have high ROS conditions, and others have low ROS. TNBC thrives on high ROS compared to other Breast Cancer subtypes.

Elective Discontinuation of Larotrectinib in Pediatric Patients With TRK Fusion Sarcomas and Related Mesenchymal Tumors.

Larotrectinib is a highly selective tropomyosin receptor kinase (TRK) inhibitor with efficacy in children with TRK fusion tumors. We evaluated patient outcomes after elective discontinuation of larotrectinib in the absence of disease progression in a protocol-defined wait-and-see subset analysis of eligible patients where treatment resumption with larotrectinib was allowed if disease progressed. We also assessed the safety and efficacy of larotrectinib in all pediatric patients with sarcoma.

Ciliary Body Medulloepithelioma: Clinical and Pathologic Challenges with a Focus on Molecular Genetics.

Objective: Ciliary body medulloepithelioma (CBME), a pediatric intraocular tumor with potential for locally aggressive behavior and metastasis, may present with a diverse spectrum of clinical and histopathologic features leading to diagnostic and management challenges. Examination of unusual CBME cases highlights challenges and modern diagnostic techniques which facilitate accurate diagnosis and guide management.

Methods: A retrospective clinicopathologic analysis of 6 patients with unusual clinical or pathologic features of CBME was performed.

Investigation of Genomic and Transcriptomic Risk Factors of Clopidogrel Response in African Americans.

Clopidogrel, an anti-platelet drug, is used to prevent thrombosis after percutaneous coronary intervention. Clopidogrel resistance results in recurring ischemic events, with African Americans (AA) suffering disproportionately. The aim of this study was to discover novel biomarkers of clopidogrel resistance in African Americans using genome and transcriptome data.

Evaluating the Impact of a Safe Exercise Training on Clinician Knowledge and Self-Efficacy in Managing Dysfunctional Exercise in an Eating Disorder Treatment Setting.

Introduction: Dysfunctional exercise (DEX) is common among individuals with an eating disorder (ED) and poses significant challenges to treatment and recovery. While safe and nutritionally supported physical activity can enhance treatment outcomes without hindering weight restoration, clinicians often hesitate to address DEX with their patients. This mixed-method study aimed to evaluate the impact of a Safe Exercise at Every Stage (SEES) informed training on clinician knowledge and self-efficacy in managing DEX during ED treatment.

Variational Autoencoder-based Model Improves Polygenic Prediction in Blood Cell Traits.

Genetic prediction of complex traits, enabled by large-scale genomic studies, has created new measures to understand individual genetic predisposition. Polygenic Risk Scores (PRS) offer a way to aggregate information across the genome, enabling personalized risk prediction for complex traits and diseases. However, conventional PRS calculation methods that rely on linear models are limited in their ability to capture complex patterns and interaction effects in high-dimensional genomic data.

Cricoid chondroma presenting as upper airway obstruction: A report of a rare case.

Laryngeal chondroma is a very rare laryngeal tumor that commonly presents as dysphonia and dyspnea. A combination of clinical, histological, and radiological data has paramount importance for accurate diagnosis of this rare disease. It is difficult to differentiate laryngeal chondroma from chondrosarcoma solely based on radiological imaging; therefore, radiologists need to specify the origin of the tumor and the level of extension.

Clinical, immunophenotypic, and genomic findings of acute myeloid leukemia with RAM immunophenotype: Comparison with other CD56-positive acute leukemias.

Background: Acute myeloid leukemia (AML) with RAM immunophenotype is a newly recognized high-risk AML immunophenotypic subcategory characterized by blasts with bright expression of CD56 and weak to absent expression of CD45, HLA-DR, and CD38, as first described by the Children's Oncology Group (COG). The relationship between AML-RAM and other CD56-positive acute leukemias is unclear. The goal of this study is to characterize the clinicopathological characteristics of AML with RAM phenotype and compare them with other CD56 co-expressing acute leukemias.

Characterizing the fecal microbiome in patients on the ketogenic diet for drug resistant epilepsy.

Background: The ketogenic diet is a dietary therapy with anti-seizure effects. The efficacy of the diet is variable, with initial animal studies suggesting the intestinal microbiome may have a modulating effect. Initial research on the role of the human microbiome in pediatric epilepsy management has been inconclusive.

Validation of the Postnatal Growth and Retinopathy of Prematurity (G-ROP) criteria in a Slovene cohort.

Purpose To validate the Postnatal Growth and ROP (G-ROP) study criteria for retinopathy of prematurity (ROP) screening in a Slovenian cohort. Methods We conducted a retrospective cohort study of preterm infants screened in 2021 at the University Medical Centre Ljubljana, Slovenia. The G-ROP criteria were systematically applied.

Knowledge and attitudes of school nurses in caring for sexual and gender minority youth: A national survey.

Background: School nurses (SNs) can play important roles in the health of sexual and gender minority (SGM) youth, yet little is known about their knowledge and attitudes toward this population.

Purpose: To understand SNs' knowledge and attitudes in caring for SGM youth across the United States.

Methods: We designed and disseminated the School Nurses and LGBTQ Youth online survey in May 2023 to U.