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Targeted RNA sequencing in diagnostically challenging head and neck carcinomas identifies novel MON2::STAT6, NFATC2::NUTM2B, POC5::RAF1, and NSD3::NCOA2 gene fusions.
Histopathology
December 2024
Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Aims: Although molecular tests developed for a growing list of oncogenic alterations have significantly aided in the classification of head and neck carcinomas, tumours in which prototypical histologic and immunophenotypic features are lacking or only partially developed continue to pose diagnostic challenges. Searching for known diagnostic and therapeutic targets by clinical next-generation sequencing (NGS) assays can often lead to new discoveries.
Methods And Results: We present our institutional experience in applying targeted RNA NGS in 36 head and neck carcinomas that were morphologically difficult to classify between 2016 and 2023.
Introduction: Joubert syndrome a rare genetic disorder, is characterized by abnormalities in the development of the central nervous system with "molar signs" on magnetic resonance imaging of the brain and accompanied by cerebellar vermis hypoplasia, ataxia, hypotonia, and developmental delay. Keratoconus (KC) is a kind of genetically predisposed eye disease that causes blindness characterized by a dilated thinning of the central or paracentral cornea conically projected forward, highly irregular astigmatism, and severe visual impairment. Klinefelter syndrome is caused by an extra X chromosome in the cells of male patients, and the main phenotype is tall stature and dysplasia with secondary sex characteristics.
View Article and Find Full Text PDFA concept in flux and starved of the metaphysical: desecularizing emotion.
Front Psychol
May 2024
Wolfson College, The University of Oxford, Oxford, United Kingdom.
Despite being of undisputed importance, there is no consensus on what emotions are, with the majority of research that constructs ideas about them being colored by a particular worldview. This conceptual article examines the case for conducting an Islamic analysis of emotion. It might seem a peculiar area to examine; what would be the need to analyze such a universal psychological concept through the lens of a particular religion? Three points are used to argue for this endeavor.
View Article and Find Full Text PDFPrognosticators of Excision of Giant Intra-Oral Tumors in a Resource-Challenged Setting: A Case Report.
West Afr J Med
March 2024
Department of Anaesthesia, College of Health Sciences, Faculty of Clinical Sciences, University of Ilorin, Ilorin, Kwara State, Nigeria.
Minor salivary glands are widely distributed in the mucosal surface of the lips, palate, nasal cavity, pharynx, and larynx, thus can arise from any of these primary sites. Intra-oral minor salivary gland tumors (IMSGTs), while considered rare in the general population are relatively more common when compared to all the other extra-oral sites. Pleomorphic adenoma, as seen in the index patient, is the most commonly diagnosed benign IMSGT.
View Article and Find Full Text PDFCLINICAL FEATURES OF THE COURSE OF HIRSCHSPRING'S DISEASE INCHILDREN OF THE FIRST YEAR.
Georgian Med News
January 2024
4P.L. Shupyk National University of Health Care of Ukraine, Kyiv, Ukraine.
The purpose of the work - to investigate the peculiarities of the clinical course of Hirschsprung's disease in children of the first year of life and to determine the significance of symptoms in the verification of the disease. From 1980 to 2021, at the pediatric surgery clinic of the National Medical University named after O.O.
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