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An exceptionally rare case of a diffuse midline glioma with concomitant H3.1 K27M and G34R mutations in the HIST1H3C (H3C3) gene.
Acta Neuropathol Commun
January 2025
Institute of Cancer Research, London, UK.
Histone mutations (H3 K27M, H3 G34R/V) are molecular features defining subtypes of paediatric-type diffuse high-grade gliomas (HGG) (diffuse midline glioma (DMG), H3 K27-altered, diffuse hemispheric glioma (DHG), H3 G34-mutant). The WHO classification recognises in exceptional cases, these mutations co-occur. We report one such case of a 2-year-old female presenting with neurological symptoms; MRI imaging identified a brainstem lesion which was biopsied.
View Article and Find Full Text PDFCharacterization of jugular bulb position on computed tomography (CT) with implications for excision of vestibular schwannomas.
Neurosurg Rev
January 2025
Department of Neurological Sciences, Christian Medical College Vellore- Ranipet Campus Vellore, Vellore, Tamil Nadu, 632517, India.
To describe the distribution of jugular bulb position and pneumatization of posterior lip of internal auditory meatus (IAM) in patients with vestibular schwannoma (VS). This retrospective study included 43 patients who had a thin slice (< 2 mm) CT temporal bone for preoperative planning of retrosigmoid approach for excision of VS between March 2011 and March 2021. On computed tomography (CT), high riding jugular bulb was defined by its relationship to IAM and correlated with type of jugular bulb according to Manjila et al.
View Article and Find Full Text PDFIncidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS.
Prenat Diagn
January 2025
Àrea de Genètica Clínica i Molecular, Hospital Universitari Vall d'Hebron, Institut Català de la Salut, Barcelona, Spain.
Objective: The study aimed to evaluate the frequency of pathogenic copy number variants (CNVs) classified as incidental findings (IFs) in prenatal diagnosis and to develop consensus recommendations for standardizing their reporting across six centers within the Catalan public health system (XIGENICS network).
Method: A retrospective review of 4219 consecutive prenatal microarrays performed within the network from 2018 to 2023 was conducted, including all referral reasons. To develop consensus recommendations, several discussion meetings were held along with an extensive review of the existing literature.
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