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"Incidentally" discovered Von Hippel Lindau disease: an emerging clinical phenotype.
Oncologist
March 2025
Division of Hematology-Oncology, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, United States.
Increasing accessibility to genetic screening for cancer risk can lead to earlier surveillance and prevention, but with this comes the caveat of incidental identification of germline pathogenic gene variants. Here, we report a single institution case series of 6 otherwise healthy individuals with "incidental" Von Hippel Lindau (VHL) disease. These patients were found to have pathogenic germline variants in the VHL gene, after undergoing genetic testing for other purposes (5 for familial breast cancer risk and 1 to determine ancestry) but no VHL disease-associated tumors.
View Article and Find Full Text PDFImaging the artery of Percheron: a pictorial review of associated pathology with important mimics of bithalamic abnormalities.
Neuroradiology
March 2025
East Sussex Healthcare NHS Trust, Saint Leonards-on-Sea, UK.
Background And Purpose: The Artery of Percheron (AoP) supplying bilateral paramedian thalami and rostral midbrain is a rare anatomical variant. In the event of occlusion of AoP, a characteristic pattern of ischaemia is seen, presenting as bithalamic signal abnormality on magnetic resonance imaging (MRI). However, this particular imaging finding has significant radiological and clinical overlap with other conditions, necessitating a comprehensive understanding of the imaging characteristics and potential differential diagnosis.
View Article and Find Full Text PDFBlood Carboxyhemoglobin Concentrations as a Diagnostic Biomarker of Hemolytic Anemias in Cats.
J Vet Intern Med
March 2025
Ben-Shemen Referral Center, Ben-Shemen Youth Village, Israel.
Background: Endogenous carboxyhemoglobin (COHb) production is a byproduct of hemoglobin metabolism.
Hypothesis: Blood carboxyhemoglobin concentrations are higher in cats with hemolytic anemia (HA).
Animals: Twenty cats with HA, 29 cats with non-HA, and 22 controls were prospectively followed.
Clinical data and reporting quality in NMDAR-antibody encephalitis and pregnancy: a systematic review.
BMJ Neurol Open
March 2025
Department of Psychiatry, University of Oxford, Oxford, UK.
Background: N-methyl-D-aspartate receptor antibody encephalitis (NMDAR-Ab-E) can have an onset during, after or prior to a pregnancy. In animal models, transplacental NMDAR immunoglobulin G transfer can affect neurodevelopment. In contrast, clinical reports of mothers affected by NMDAR-Ab-E typically are reassuring.
View Article and Find Full Text PDFSocietal views on using risk-based innovations to inform cancer screening and referral policies: findings from three community juries.
BMC Public Health
February 2025
Department of Public Health and Primary Care, Primary Care Unit, University of Cambridge, Cambridge, CB2 0SR, UK.
Background: Recent advances mean that innovations are emerging that enable better stratification of individuals based on their risk of cancer so that screening or diagnostic investigations can be targeted to those at greatest need. We explored the views of the public, from a societal perspective, of using such risk-based innovations to identify people's cancer risk and allocating healthcare accordingly.
Methods: We conducted three community juries, each with 7-9 participants.
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