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Genomic sequencing in diverse and underserved pediatric populations: parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.
Genet Med
January 2025
Genomics Ethics, and Translational Research Program, RTI International, Research Triangle Park, NC; Department of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR. Electronic address:
Purpose: Limited evidence evaluates parents' perceptions of their child's clinical genomic sequencing (GS) results, particularly among individuals from medically underserved groups. Five Clinical Sequencing Evidence-Generating Research (CSER) consortium studies performed GS in children with suspected genetic conditions with high proportions of individuals from underserved groups to address this evidence gap.
Methods: Parents completed surveys of perceived understanding, personal utility, and test-related distress after GS result disclosure.
Effect of an Electronic Pill Bottle on Hydroxychloroquine Adherence in Pediatric Lupus: Results of a Novel Direct-to-Family Pilot Trial.
ACR Open Rheumatol
January 2025
Duke University and Duke Clinical Research Institute, Durham, North Carolina.
Objective: The objective of this study was to evaluate the preliminary effectiveness of an electronic pill bottle with automated reminders on hydroxychloroquine (HCQ) adherence in children with pediatric systemic lupus erythematosus (pSLE).
Methods: This was a self-controlled, open label, direct-to-family pilot trial. Children with pSLE treated with HCQ were recruited from the Childhood Arthritis and Rheumatology Research Alliance Registry.
DNA hypomethylation-related expression of hsa-miR-184 contributes to invasive growth of gonadotroph neuroendocrine pituitary tumors.
J Neuroendocrinol
January 2025
Department of Molecular and Translational Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.
Gonadotroph neuroendocrine pituitary tumors are among the most common intracranial neoplasms. A notable proportion of these tumors is characterized by invasive growth which hampers the treatment results and worsens prognoses of patients. Increased hsa-miR-184 expression was observed in invasive as compared to non-invasive gonadotroph tumors.
View Article and Find Full Text PDFInnovative telehospitalist model optimizes medical triage in collaboration with community emergency departments: A cross-sectional study.
J Telemed Telecare
January 2025
Division of Hospital Internal Medicine, Mayo Clinic, Rochester, MN, USA.
Introduction: Optimal hospital bed utilization requires innovative patient care models. We studied a novel hospitalist model utilizing telemedicine to facilitate collaboration with affiliated emergency departments (EDs) and support medical triage and care of ED patients with high likelihood of hospital admission.
Methods: Telehospitalists based at a tertiary care facility collaborated with four community EDs in the same healthcare network between January 1, 2022, and April 30, 2023.
3D MRI with CT-like bone contrast (3D-BONE): a pictorial review of clinical applications.
Acta Radiol
January 2025
Department of Radiology, Changi General Hospital, Singapore, Republic of Singapore.
Background: Computed tomography (CT) is the gold standard imaging modality for the assessment of 3D bony morphology but incurs the cost of ionizing radiation exposure. High-resolution 3D magnetic resonance imaging (MRI) with CT-like bone contrast (CLBC) may provide an alternative to CT in allowing complete evaluation of both bony and soft tissue structures with a single MRI examination.
Purpose: To review the technical aspects of an optimized stack-of-stars 3D gradient recalled echo pulse sequence method (3D-Bone) in generating 3D MR images with CLBC, and to present a pictorial review of the utility of 3D-Bone in the clinical assessment of common musculoskeletal conditions.
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