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A novel POT1-TPD presentation: A germline pathogenic POT1 variant discovered in a patient with newly diagnosed posterior fossa ependymoma.
Cancer Genet
January 2025
Cincinnati Children's Hospital Medical Center, Division of Oncology, Cincinnati, OH, USA; University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address:
Introduction: POT1 tumor predisposition (POT1-TPD) is an autosomal dominant disorder characterized by increased lifetime malignancy risk. Melanoma, angiosarcoma, and chronic lymphocytic leukemia are the most frequently reported malignancies [1]. Protection of telomeres protein 1 (POT1) is part of the shelterin protein complex to maintain/protect telomeres [2].
View Article and Find Full Text PDFIncidental nanoparticle characterisation in industrial settings to support risk assessment modelling.
Int J Hyg Environ Health
January 2025
Institute of Environmental Assessment and Water Research - Spanish Research council (IDAEA-CSIC), Barcelona, 08034, Spain; Spanish Ministry of Ecological Transition, Pollution Prevention Unit, Pza. San Juan de la Cruz 10, 28071, Madrid, Spain.
Research on nanoparticle (NP) release and potential exposure can be assessed through experimental field campaigns, laboratory simulations, and prediction models. However, risk assessment models are typically designed for manufactured NP (MNP) and have not been adapted for incidental NP (INP) properties. A notable research gap is identifying NP sources and their chemical, physical, and toxicological properties, especially in real-world settings.
View Article and Find Full Text PDFFibronectin Glomerulopathy Without Typical Renal Biopsy Features in a 4-Year-Old Girl with Incidentally Discovered Proteinuria and a G417V Gene Mutation.
Int J Mol Sci
January 2025
Department of Pathology, Albert Szent-Györgyi Medical Center, Faculty of Medicine, University of Szeged, 6720 Szeged, Hungary.
Fibronectin glomerulopathy (FG) is caused by fibronectin 1 () gene mutations. A renal biopsy was performed on a 4-year-old girl with incidentally discovered proteinuria (150 mg/dL); her family history of renal disease was negative. Markedly enlarged glomeruli (mean glomerular diameter: 196 μm; age-matched controls: 140 μm), α-SMA-positive and Ki-67-positive mesangial cell proliferation (glomerular proliferation index 1.
View Article and Find Full Text PDFAdvanced Imaging for Congenital Left Ventricular Diverticulum in a Dog: The Role of Electrocardiosynchronous CT.
Animals (Basel)
January 2025
Veterinary Teaching Hospital, Tokyo University of Agriculture and Technology, Tokyo 183-8538, Japan.
A 2-month-old Shiba Inu was presented to an emergency veterinary clinic with decreased activity and was diagnosed with pulmonary hypertension secondary to a ventricular septal defect. The dog was referred to the TUAT Veterinary Medical Center for further evaluation. During treatment, a diverticulum was incidentally identified at the apex of the left ventricle.
View Article and Find Full Text PDFPediatric COVID-19 severity by SARS-CoV-2 lineage and vaccine status in Canada: an IMPACT study.
Pediatr Res
January 2025
Centre for Global Child Health, The Hospital for Sick Children, Toronto, ON, Canada.
Background: Interpretations of pediatric COVID-19 severity are complicated by novel lineages and COVID-19 vaccine introduction. We estimated the risk of severe COVID-19 by SARS-CoV-2 lineage and vaccination status among hospitalized Canadian children.
Methods: Data were collected through the Canadian Paediatric Surveillance Program (April 2020-May 2021) and Canadian Immunization Monitoring Program, ACTive (June 2021-December 2022).
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