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Hydrocortisone Attenuates the Development of Malformations of the Polymicrogyria Spectrum.
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Neurodegeneration and Repair Lab, Department of Pathology, Postgraduate Program in Anatomical Pathology, Faculty of Medicine, Universitary Hospital Clementino Fraga Filho, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Most of the malformations of the polymicrogyria spectrum are caused by destructive lesions of the neocortex during the third trimester of pregnancy, triggered by hypoxic-ischemic, hemorrhagic or infectious events, with neuroinflammation as a common pathophysiological mechanism. Our study investigated hydrocortisone treatment in attenuating inflammation, malformations development and seizures predisposition in mice subjected to neonatal transcranial freeze lesion. Our results show attenuation of malformation and predisposition to febrile seizures, with concomitant reduction of macrophages/microglia after neonatal freeze lesion, polarizing them towards an anti-inflammatory profile.
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Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Infantile myofibromatosis (IM) comprises a wide clinical spectrum, ranging from solitary or multicentric lesions to generalized life-threatening forms. IM is mostly linked to germline or somatic heterozygous mutations in the PDGFRβ tyrosine kinase, encoded by the PDGFRB gene. Treatments for IM range from wait and see approach to systemic chemotherapy, according to the clinical context.
View Article and Find Full Text PDFRetinal Vasculitis as a Rare Presentation of Microscopic Polyangiitis.
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Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
The term verruciform acanthotic vulvar intraepithelial neoplasia (vaVIN) was coined to describe HPV-independent p53-wildtype lesions with characteristic clinicopathologic characteristics and association with vulvar squamous cell carcinoma (vSCC). We aimed to expand on the molecular landscape of vaVIN using comprehensive sequencing and copy number variation profiling. vaVIN diagnosis in institutional cases was confirmed by a second review, plus negative p16 and wildtype p53 by immunohistochemistry.
View Article and Find Full Text PDFA recurrent variant c.5126C>T in a Han-Chinese family with tuberous sclerosis complex.
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Lamei Yuan, MD, PhD, Health Management Center, the Third Xiangya Hospital, Disease Genome Research Center, Center for Experimental Medicine, the Third Xiangya Hospital, Research Center of Medical Experimental Technology, the Third Xiangya Hospital, Xiangya School of Medicine, Central South University, Changsha 410013, Hunan, China.
Objective: To identify the disease-causing variant in a family with tuberous sclerosis complex (TSC).
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