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Potential neurotoxicity associated with methotrexate.
Sci Rep
August 2024
Division of Neurology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Wanglang Road, Siriraj, Bangkok Noi, Bangkok, 10700, Thailand.
This study aimed to elucidate the incidence and characteristics of neurotoxicity in patients receiving methotrexate (MTX) treatment. A retrospective analysis was performed using data from the electronic cohort database spanning from January 1990 to December 2021. This review focused on patients who manifested neurotoxic symptoms post-MTX therapy, excluding patients with peripheral neuropathy.
View Article and Find Full Text PDFLeigh Syndrome due to Variants: A Case Presentation and the Review of the Literature.
Mol Syndromol
August 2024
Department of Pediatrics, Pediatric Metabolism Unit, Ankara Etlik City Hospital, Ankara, Turkey.
Introduction: Leigh syndrome is a rare mitochondrial disorder characterized by subacute necrotizing encephalomyelopathy, resulting from defects in mitochondrial respiratory enzymes or pyruvate dehydrogenase complex. Symptoms can manifest in infancy, childhood, or adulthood. We present a case of a 7-month-old girl initially misdiagnosed with septic shock but was later found to have Leigh encephalomyelopathy due to deficiency.
View Article and Find Full Text PDFACOX1 gain-of-function variation in a 10-years-old patient responsive to immunomodulating therapy.
Am J Med Genet A
November 2024
Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
A heterozygous gain-of-function variant in the acyl-CoA oxidase 1 (ACOX1) gene, c.710A>G (p.Asn237Ser), is known to cause Mitchell syndrome, a very rare progressive disorder characterized by episodic demyelination, sensory polyneuropathy, and hearing loss.
View Article and Find Full Text PDFNeuro-Ophthalmic Visual Impairment in the Setting of COVID-19.
Semin Neurol
April 2023
Weill Cornell Medical College, New York, New York.
We set out to describe in detail the afferent neuro-ophthalmological complications that have been reported in association with coronavirus disease 2019 (COVID-19) infection. We describe and elaborate on mechanisms of disease, including para-infectious inflammation, hypercoagulability, endothelial damage, and direct neurotropic viral invasion. Despite global vaccination programs, new variants of COVID-19 continue to pose an international threat, and patients with rare neuro-ophthalmic complications are likely to continue to present for care.
View Article and Find Full Text PDFBilateral plaque like macular atrophy and pigmentary retinopathy in an infant with a missense mutation in the gene.
Ophthalmic Genet
October 2023
Department of Ophthalmology, ROP Screening, Treatment and Training Center, Zeynep Kamil Maternity and Children's Disease Training and Research Hospital, Istanbul, Turkey.
Purpose: Ocular involvement has been shown in many of the primary mitochondrial diseases. Herein, we report a pediatric case of an extraordinary fundus appearance of bilateral plaque-like macular atrophy and hypopigmented flecks with homozygous MFF gene mutation.
Methods: A case report.
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