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http://dx.doi.org/10.3324/haematol.2009.016816 | DOI Listing |
Microcephaly affects 1 in 2,500 babies per year. Primary microcephaly results from aberrant neurogenesis leading to a small brain at birth. This is due to altered patterns of proliferation and/or early differentiation of neurons.
View Article and Find Full Text PDFNeuropathology
January 2025
Department of Pathology, Shenzhen Second People's Hospital, Shenzhen University 1st Affiliated Hospital, Shenzhen, China.
We report a rare case of rhabdoid meningioma (RM) originating from the optic nerve in a 57-year-old female. The tumor exhibited rhabdoid or epithelioid histology and harbored BAP1 inactivation mutations. Optic nerve meningioma typically originates from the outer meningeal cells of the optic nerve within the optic canal and is usually benign, with most cases classified as meningothelial or transitional meningiomas.
View Article and Find Full Text PDFLife (Basel)
December 2024
Department of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, 80131 Naples, Italy.
MyD88 deficiency is a rare inborn error of immunity (IEI) characterized by susceptibility to pyogenic infections without overt signs of inflammation. Half of the reported patients belong to Roma descent, an itinerant ethnic group living mostly in Europe, with an increased risk of childhood mortality due to limited access to healthcare services. We describe three unrelated patients from the Campania region in Italy with MyD88 deficiency, all belonging to Roma descent and displaying severe or recurrent infections in early infancy.
View Article and Find Full Text PDFBioengineering (Basel)
December 2024
Department of Pathology, University of Yamanashi, Yamanashi 409-3898, Japan.
The latest World Health Organization (WHO) classification of central nervous system tumors (WHO2021/5th) has incorporated molecular information into the diagnosis of each brain tumor type including diffuse glioma. Therefore, an artificial intelligence (AI) framework for learning histological patterns and predicting important genetic events would be useful for future studies and applications. Using the concept of multiple-instance learning, we developed an AI framework named GLioma Image-level and Slide-level gene Predictor (GLISP) to predict nine genetic abnormalities in hematoxylin and eosin sections: , , mutations, promoter mutations, homozygous deletion (CHD), amplification (amp), 7 gain/10 loss (7+/10-), 1p/19q co-deletion, and promoter methylation.
View Article and Find Full Text PDFG3 (Bethesda)
January 2025
Department of Cell and Systems Biology, University of Toronto, Toronto, Ontario, M5S3G5, Canada.
Sex-determining region Y box 2 (Sox2) is a critical transcription factor for embryogenesis and neural stem and progenitor cell (NSPC) maintenance. While distal enhancers control Sox2 in embryonic stem cells (ESCs), enhancers closer to the gene are implicated in Sox2 transcriptional regulation in neural development. We hypothesize that a downstream enhancer cluster, termed Sox2 regulatory regions 2-18 (SRR2-18), regulates Sox2 transcription in neural stem cells and we investigate this in NSPCs derived from mouse ESCs.
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