Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).
View Article and Find Full Text PDFNavigating pediatric advanced cancer is challenging for children and parents, resulting in increased risk for psychological distress. While research has explored parent worries/concerns, few studies have included children's perspectives. To explore worries/concerns in children with advanced cancer and their parents.
View Article and Find Full Text PDFPalliat Support Care
November 2024
Objectives: Although pediatric cancer often causes significant stress for families, most childhood cancer survivors are resilient and do not exhibit severe or lasting psychopathology. Research demonstrates some survivors may report benefit-finding or positive outcomes following this stressful life event. However, considerably less research has included families of children who are unlikely to survive their illness.
View Article and Find Full Text PDFBackground: To determine the impact of the COVID-19 pandemic on prenatal and postpartum depressive symptoms in rural versus urban populations.
Methods: A retrospective cohort study was conducted among 24,227 cisgender women who gave birth from 2010 to 2021 at an academic medical center located in a rural midwestern state. Exclusion criteria were <18 years old, incarcerated, or without a documented zip code.
Objectives: To characterize caregiver experiences in the context of advanced pediatric cancer by identifying individual (i.e., demographic factors, stress) and family context factors (i.
View Article and Find Full Text PDFBackground: Many home-based interventions have been demonstrated to reduce unintentional and intentional injuries in young children aged 0-4 years, but an understanding of their inclusion in federally-funded home visiting programmes in the USA is needed.
Methods: The study team administered a survey to key informants at each of the 21 home visiting models approved for United States Maternal, Infant, and Early Childhood Home Visiting program funding being implemented in 2023. Respondents were based across the United States and in other developed countries.
Optimization of protective immune responses against SARS-CoV-2 remains an urgent worldwide priority. In this regard, type III IFN (IFN-λ) restricts SARS-CoV-2 infection in vitro, and treatment with IFN-λ limits infection, inflammation, and pathogenesis in murine models. Furthermore, IFN-λ has been developed for clinical use to limit COVID-19 severity.
View Article and Find Full Text PDFFacioscapulohumeral muscular dystrophy (FSHD) affects roughly 1 in 7500 individuals. While at the population level there is a general pattern of affected muscles, there is substantial heterogeneity in muscle expression across- and within-patients. There can also be substantial variation in the pattern of fat and water signal intensity within a single muscle.
View Article and Find Full Text PDFBackground: Unintentional injuries disproportionately impact American Indian and Alaska Native (AI/AN) populations. Developing effective and culturally tailored data collection and intervention programs requires an understanding of past prevention efforts in AI/AN communities, but limited peer-reviewed literature on the topic is available. This scoping review aims to summarize efforts that have been published in the Primary Care Provider newsletter, a source of gray literature available through the Indian Health Service.
View Article and Find Full Text PDFObjectives: Adolescents with cancer often experience significant symptom burden and aggressive treatment near end-of-life. Increased adolescent involvement in care and decision-making may benefit health outcomes. Limited research has examined factors associated with adolescents' involvement in care in the context of advanced disease.
View Article and Find Full Text PDFR loops are RNA-DNA hybrid containing structures involved in diverse cellular processes, including DNA double-strand break (DSB) repair. R loop homeostasis involving the formation and resolution of R loops is critical for DSB repair, and its dysregulation leads to genome instability. Here we show that the HELZ helicase promotes R loop resolution to facilitate DSB repair by homologous recombination (HR).
View Article and Find Full Text PDFContemp Clin Trials Commun
December 2023
Background: The coronavirus disease 2019 (COVID-19) global pandemic drastically impacted the health system and the research community. As a result, research institutions and funding agencies recommended a moratorium on conducting in-person research and study enrollment until protocol changes to protect participant safety were approved and implemented. We detail the operational modifications made to the Lupus Intervention Fatigue Trial (LIFT) protocol and summarize how we met the varied challenges created by COVID-19.
View Article and Find Full Text PDFObjective: Limited research has characterized cancer-related stress (CRS) among families of childhood cancer survivors. We examined the prevalence of CRS among survivors and caregivers, as well as its association with health risk perceptions (i.e.
View Article and Find Full Text PDFThe combinatorial effect of genetic variants is often assumed to be additive. Although genetic variation can clearly interact non-additively, methods to uncover epistatic relationships remain in their infancy. We develop low-signal signed iterative random forests to elucidate the complex genetic architecture of cardiac hypertrophy.
View Article and Find Full Text PDFHeparin-induced thrombocytopenia (HIT) is a commonly encountered condition, especially in inpatient settings, and is often attributed to high mortality and prolonged hospital stays. A rare entity, autoimmune heparin-induced thrombocytopenia (aHIT) refers to a condition in which antiplatelet factor-4 (PF4) antibodies activate platelets even in the absence of heparin. Our patient presented 12 days after transcatheter aortic valve replacement (TAVR) with altered mental status and severe thrombocytopenia.
View Article and Find Full Text PDFBackground: Families of children with medical complexity (CMC) have been negatively affected by the COVID-19 pandemic, experiencing challenges such as decreased access to services, increased financial hardship and increased isolation. However, there are few qualitative studies which explore parental experiences. The aim of the present study was to describe the impact of the COVID-19 pandemic on families of CMC.
View Article and Find Full Text PDFStable isotope methods for provenance of unidentified human remains are relatively a newer field of enquiry in forensic archeology. It is of great interest for forensic experts these days. The application of strontium isotope analyses for estimating geolocation of archeological remains is of great interest in bioarcheology and modern forensics.
View Article and Find Full Text PDFClin Pract Pediatr Psychol
September 2023
Objective: To map the range of multidisciplinary palliative care interventions that are available to adolescents and young adults (AYAs) with serious illness.
Methods: Scoping review methodology as outlined by Arksey and O'Malley.
Results: Twenty-two articles describing nine specific AYA-focused, multidisciplinary palliative care interventions were included in this review.