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A case of F-FDG PET/MR facilitates early diagnosis of anti-GFAP encephalitis disease.
Neurol Sci
January 2025
Department of Infectious Diseases, Shenzhen Nanshan People's Hospital, Shenzhen University Medical School, Shenzhen, 518052, China.
Background: Glial fibrillary acidic protein (GFAP) astrocytosis is a rare autoimmune encephalitis discovered in the last decade. The diagnosis depends on clinical symptoms, imaging, and antibody testing. However, most cases require several months or even longer to make a definite diagnosis.
View Article and Find Full Text PDFOral Cyclosporine Treatment for Four Pediatric Patients With Toxic Epidermal Necrolysis That Showed No Response to High-dose Corticosteroids in Combination With Intravenous Immunoglobulin: A Case Series.
Curr Ther Res Clin Exp
December 2024
Department of Critical Medicine, The Affiliated Hospital of Qingdao University, Qingdao, China.
Background: Immunosuppressive agents like cyclosporine have proven effective in some pediatric cases, although there are limited case reports considering potential risks such as secondary infections.
Objective: This study investigated the safety and efficacy of Cyclosporine A in children who did not respond to high-dose corticosteroids combined with intravenous immunoglobulin (IVIG).
Methods: We reported four pediatric patients diagnosed with toxic epidermal necrolysis (TEN) received treatment at our institution.
Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study.
Mol Genet Metab Rep
March 2025
Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Background: The current standard of care for infantile-onset Pompe disease (IOPD), a severe form of acid α-glucosidase enzyme activity deficiency is: (1) detection by newborn screening, (2) early initiation of intravenous enzyme replacement therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), with higher doses of rhGAA increasingly used to improve clinical outcomes, and (3) immune tolerization induction (ITI) using to prevent anti-rhGAA antibody formation, with methotrexate (MTX), rituximab, and IVIG used for patients who are cross-reactive immunologic material negative (CRIM-) and monotherapy with MTX used in patients who are cross-reactive immunologic material positive (CRIM+).
Objectives/methods: A pilot study evaluates a dose-intensive therapy (DIT) using high-dose ERT (40 mg/kg/week) and more frequent exposure to ERT (i.e.
Case report: Chronic inflammatory demyelinating polyradiculoneuropathy with severe central nervous system demyelination: a clinicopathological study.
Front Immunol
December 2024
Department of Neurology, Osaka University Graduate School of Medicine, Suita, Japan.
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune-mediated disease that mainly affects the peripheral nerves and nerve roots and typically presents with distal dominant motor and sensory disturbances as clinical symptoms. Central nervous system (CNS) demyelination with inflammation occurs infrequently in patients with CIDP. Here, we present a unique autopsy report of CIDP causing severe demyelination along the entire spinal cord.
View Article and Find Full Text PDFSmall Ovarian Teratoma Causes Anti-N-methyl- D-aspartate Encephalitis.
P R Health Sci J
December 2024
Third-year medical student at the University of Puerto Rico, Medical Sciences Campus, San Juan, Puerto Rico.
This is the case of a 22-year-old female who arrived at our institution after experiencing refractory insomnia, disorganized behavior, inappropriate laughter, and anorexia. Upon admission, a physical examination revealed mutism, irritability, and visual hallucinations. Infectious, metabolic, and other, alternative, causes for the presenting symptoms were excluded.
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