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Homozygous Mutation in the QARS1 Gene Causing Developmental Epileptic Encephalopathy in Siblings in the Southeast Asian Region: An Interesting Case Report and Discussion.
Cureus
February 2025
Department of Paediatrics, Manipal Tata Medical College, Jamshedpur, IND.
Developmental epileptic encephalopathy (DEE) refers to conditions where cognitive functions are impacted both by seizures as well as interictal epileptiform activities and the neurobiological processes involved. They lead to early onset refractory epilepsy causing progressive decline in cerebral function, developmental delay, and significant EEG changes. Glutaminyl-tRNA synthetase (QARS) is encoded by the gene and its mutation has been implicated as one of the causes of DEE.
View Article and Find Full Text PDFCase report: Two cases of multiple evanescent white dot syndrome with transient night blindness.
Front Ophthalmol (Lausanne)
February 2025
Department of Ophthalmology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Introduction: This study aimed to report two cases of multiple evanescent white dot syndrome (MEWDS) with transient night blindness.
Case Presentation: Case 1: A 24-year-old man presented with acute visual loss and night blindness in his right eye. Examination revealed an enlarged blind spot and multiple white dots extending from the posterior pole to the peripheral retina in the right eye.
Multifocal white plaques on the tongue: isolated oral manifestation of secondary syphilis.
Wien Klin Wochenschr
March 2025
Department of Clinical Dentistry, Dentistry School, Federal University of Juiz de Fora, Juiz de Fora, MG, Brazil.
[A case of multifocal glioblastoma with ring enhancement, mimicking cerebral toxoplasmosis with ring-enhanced lesions].
Rinsho Shinkeigaku
February 2025
Department of Neurology, Kakogawa Central City Hospital.
A 57-year-old male patient with a history of daily contact with stray cats was transferred to our hospital with weakness in the left limb and mild disturbance of consciousness. At presentation, he had no fever or signs of meningeal irritation. Cerebrospinal fluid examination revealed lymphocytic pleocytosis; however, the cerebrospinal culture was negative.
View Article and Find Full Text PDFProgressive multifocal leukoencephalopathy in rheumatoid arthritis and biological therapies: a case report and review of the literature.
J Med Case Rep
February 2025
Laboratory of Medical Microbiology and Immunology, Elisabeth-TweeSteden Hospital, Tilburg, The Netherlands.
Background: Progressive multifocal leukoencephalopathy is a rare but potentially fatal disease caused by infection of the central nervous system with John Cunningham polyomavirus. Progressive multifocal leukoencephalopathy mainly occurs in immunocompromised patients, including patients on biological and targeted synthetic therapies, such as multiple sclerosis and rheumatoid arthritis patients. Early diagnosis of progressive multifocal leukoencephalopathy is crucial for patient survival.
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