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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.
Biallelic variants in AGRN with recurrent pregnancy losses in a family with a fetal akinesia deformation sequence.
Clin Dysmorphol
January 2025
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Introduction: Agrin, encoded by AGRN, plays a vital role in the acetylcholine receptor clustering pathway, and any defects in this pathway are known to cause congenital myasthenic syndrome (CMS) 8 in early childhood with variable fatigable muscle weakness. The most severe or lethal form of CMS manifests as a fetal akinesia deformation sequence (FADS). To date, only one family has been reported with an association of null variants in AGRN and a lethal FADS.
View Article and Find Full Text PDFDynamic Methane Emissions from China's Fossil-Fuel and Food Systems: Socioeconomic Drivers and Policy Optimization Strategies.
Environ Sci Technol
January 2025
State Key Laboratory of Marine Resources Utilization in South China Sea, School of Marine Science and Engineering, Hainan University, Haikou 570228, China.
In response to the 2023 "Action Plan for Methane Emission Control" in China, which mandates precise methane (CH) emission accounting, we developed a dynamic model to estimate CH emissions from fossil-fuel and food systems in China for the period 1990-2020. We also analyzed their socioeconomic drivers through the Logarithmic Mean Divisia Index (LMDI) model. Our analysis revealed an accelerated emission increase (850.
View Article and Find Full Text PDFIndoloindolizines: The Complete Story of a Polycyclic Aromatic Scaffold from Theoretical Design to Organic Field-Effect Transistor Applications.
J Am Chem Soc
January 2025
Institute of Organic Chemistry, Polish Academy of Sciences, Kasprzaka 44/52, 01-224 Warsaw, Poland.
The development of stable and tunable polycyclic aromatic compounds (PACs) is crucial for the advancement of organic optoelectronics. Conventional PACs, such as acenes, often suffer from poor stability due to photooxidation and oligomerization, which are linked to their frontier molecular orbital energy levels. To address these limitations, we designed and synthesized a new class of π-expanded indoloindolizines by merging indole and indolizine moieties into a single polycyclic framework.
View Article and Find Full Text PDFChemical reactions with the Casson nanofluid flow by the bioconvective behavior of microorganisms over a spinning disc.
Heliyon
January 2025
Institute of Mathematics, Henan Academy of Sciences, Zhengzhou, 450046, China.
This study examines the behavior of the Casson nanofluid bioconvection flow around a spinning disc under various influences, including gyrotactic microorganisms, multiple slips, and thermal radiation. Notably, it accounts for the reversible nature of the flow and incorporates the esterification process. The aim of this study is to investigate the influence of reversible chemical reactions on the flow behavior of a Casson nanofluid in the presence of bioconvective microorganisms over a spinning disc.
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