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The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review.
Genet Med
January 2025
Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada; Women's Health Research Institute, Vancouver, BC, Canada. Electronic address:
Purpose: The increasing complexity of genetic technologies paired with more genetic tests being ordered by nongenetic healthcare providers, has resulted in an increase in the number of inappropriately ordered tests. Genetic counselors (GCs) are ideally suited to assess the appropriateness of a genetic test.
Methods: We performed a scoping review of GC involvement in utilization management initiatives in order to describe the impact of having GCs involved in this process.
Longitudinal Outcomes in Noonan Syndrome.
Genet Med
January 2025
Division of Human Genetics, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Purpose: Noonan syndrome and related disorders (NS) are multisystemic conditions affecting approximately 1:1000 individuals. Previous natural history studies were conducted prior to widespread comprehensive genetic testing. This study provides updated longitudinal natural history data in participants with molecularly confirmed NS.
View Article and Find Full Text PDFParental experiences of caring for their preschool children after declining vaccines: a qualitative systematic review.
JBI Evid Synth
January 2025
University of Alberta, Edmonton, AB, Canada.
Objective: This review synthesizes qualitative research about the experiences of parental caregivers enhancing their children's health after making the decision to not vaccinate their preschool children. This review aims to help health care providers understand the parental work involved in caring for under-vaccinated or unvaccinated children.
Introduction: Much of the current qualitative research literature about parents who are vaccine-hesitant or who decide not to vaccinate their children focuses on parental perceptions about the safety and efficacy of vaccines and decision-making.
Glucose Transporter 1 Deficiency Impairs Glucose Metabolism and Barrier Induction in Human Induced Pluripotent Stem Cell-Derived Astrocytes.
J Cell Physiol
January 2025
Department of Pharmaceutical Sciences and Center for Blood-Brain Barrier Research, Jerry H. Hodge School of Pharmacy, Texas Tech University Health Sciences Center, Amarillo, Texas, USA.
Glucose is a major source of energy for the brain. At the blood-brain barrier (BBB), glucose uptake is facilitated by glucose transporter 1 (GLUT1). GLUT1 Deficiency Syndrome (GLUT1DS), a haploinsufficiency affecting SLC2A1, reduces glucose brain uptake.
View Article and Find Full Text PDFIncreased SOX10, p16, and Cyclin D1 Immunoreactivity Differentiates MAP Kinase-activated Low-grade Gliomas From Piloid Gliosis.
Am J Surg Pathol
January 2025
Department of Pathology, Johns Hopkins University, Baltimore, MD.
Low-grade gliomas and reactive piloid gliosis can present with overlapping features on conventional histology. Given the large implications for patient treatment, there is a need for effective methods to discriminate these morphologically similar but clinically distinct entities. Using routinely available stains, we hypothesize that a limited panel including SOX10, p16, and cyclin D1 may be useful in differentiating mitogen-activated protein (MAP) kinase-activated low-grade gliomas from piloid gliosis.
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