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Background And Purpose: Lobar intracerebral hemorrhage (ICH) is associated with a high risk of recurrence, particularly in elderly patients, where cerebral amyloid angiopathy (CAA) is often the primary cause. Diagnostic markers of CAA-related ICH, including subarachnoid hemorrhage (SAH) and finger-like projection (FLP), have recently been developed. Here, we aimed to explore the associations between SAH, FLP and the risk of ICH recurrence in lobar ICH patients.

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A woman in her 50s presented with redness, eye pain, watering and photophobia of the left eye starting 1 week after she tested positive for COVID-19. She was diagnosed with left eye episcleritis and started on topical steroids. As the steroids were being gradually tapered, she developed a recurrence.

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Myoepithelial carcinoma (MC) is a rare salivary gland malignancy that usually affects people over the age of 50. The incidence is similar in both men and women. MC might develop de novo or within a pre-existing benign myoepithelioma or pleomorphic adenoma.

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Homozygous missense variant in causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.

J Med Genet

January 2025

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

Biallelic pathogenic variants in cause a fatal autosomal recessive multisystem disorder characterized by recurrent autoinflammation, hypomyelination, progressive neurodegeneration, microcephaly, failure to thrive, liver dysfunction, respiratory chain defects and accumulation of glycogen in skeletal muscle. No missense variants in have been reported to date.We report a 6-year-old boy with microcephaly, global developmental delays, lower limb spasticity with hyperreflexia, epilepsy, abnormal brain MRI, failure to thrive, recurrent fevers and transaminitis.

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Background: Chordoma is a slow-growing, primary malignant bone tumor that arises from notochordal tissue in the midline of the axial skeleton. Surgical excision with negative margins is the mainstay of treatment, but high local recurrence rates are reported even with negative margins. High-dose radiation therapy (RT), such as with proton or carbon ions, has been used as an alternative to surgery, but late local failure remains a problem.

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