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Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant.
Eur J Neurol
August 2024
Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Græcia, Catanzaro, Italy.
Background And Purpose: Glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1-DS) is a metabolic disorder due to reduced expression of GLUT1, a glucose transporter of the central nervous system. GLUT1-DS is caused by heterozygous SLC2A1 variants that mostly arise de novo. Here, we report a large family with heterogeneous phenotypes related to a novel SLC2A1 variant.
View Article and Find Full Text PDFIsolated Tuberculous Transverse Myelitis Without Meningitis Among Patients With AIDS: A Case Report.
Cureus
December 2023
Division of Infectious Disease, Department of Internal Medicine, Phramongkutklao Hospital and College of Medicine, Bangkok, THA.
Acute transverse myelitis is an inflammatory disorder of the spinal cord, characterized by acute or subacute onset of paraparesis, bilateral sensory deficit, and impaired urinary bladder and sphincter tone function. , a very rare cause of transverse myelitis, especially tuberculous myelitis without meningitis, is extremely rare. The main etiologic mechanism consists of an abnormal activation of the immune system against the spinal cord as well as the direct invasion by the bacillus.
View Article and Find Full Text PDFExploring the risk factors and prognosis of transverse myelitis in systemic lupus erythematosus.
Ther Adv Chronic Dis
May 2022
Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College.
Purpose: We aimed to describe the clinical characteristics and outcomes of patients with transverse myelitis (TM) as a rare manifestation in systemic lupus erythematosus (SLE) and explore the risk factors and prognosis of SLE-related TM (SLE-TM).
Methods: We conducted a retrospective case-control and cohort analysis. All patients with SLE-TM (58 patients) and 232 with SLE without TM, as a control group, were admitted to Peking Union Medical College Hospital between January 1993 and May 2021.
Relapse rates and risk factors for unfavorable neurological prognosis of transverse myelitis in systemic lupus erythematosus: A systematic review and meta-analysis.
Autoimmun Rev
February 2022
Department of Rheumatology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, National Clinical Research Center for Dermatologic and Immunologic Diseases, Ministry of Science & Technology, State Key Laboratory of Complex Severe and Rare Diseases, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
Background: Transverse myelitis (TM) is a rare but severe systemic lupus erythematosus (SLE) manifestation. To date, the prognostic factors for SLE-associated TM have been far less well-studied. There are also controversial data on the association of antiphospholipid antibodies (aPLs), Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) score, longitudinal extensive transverse myelitis (LETM), and decreased complement levels with the outcome of TM.
View Article and Find Full Text PDFAutoimmune GFAP astrocytopathy presenting with remarkable CNS hyperexcitability and oculogyric crises.
J Neuroimmunol
October 2021
Deparment of Neurology, Donostia University Hospital, Spain; Multiple Sclerosis & Demyelinating Diseases Unit, Deparment of Neurology, Donostia University Hospital, Spain.
The autoimmune GFAP astrocytopathy has been associated with meningoencephalomyelitis that usually responds to glucocorticoids. We report a 20-year-old man that developed an acute and severe meningoencephalomyelitis with remarkable CNS hyperexcitability and oculogyric crises. CSF analysis showed hypoglycorrhachia, pleocytosis, elevated ADA, and CSF-immunofluorescence characteristic of autoimmune GFAP astrocytopathy.
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