نتایج جستجو برای: hypomyelinating leukoencephalopathy
تعداد نتایج: 5021 فیلتر نتایج به سال:
Progressive multifocal leukoencephalopathy (PML) is a rare, myelin-damaging disease of the central nervous system (CNS) in a setting of immunosuppression that is superimposed by concurrent autoimmune diseases such as multiple sclerosis and AIDS or simultaneous administration of immune modulatory monoclonal antibody drugs such as natalizumab. The causative agent is a Polyomavirus known as John C...
Treatment of progressive multifocal leukoencephalopathy (PML) in a patient with exogenous immunosuppression starts with discontinuation of immunosuppressive medication. The restored host immunity will clear JC virus, the cause of PML, from the brain via cell-mediated immune mechanisms. Patients with solid-organ transplants will lose the transplanted organ, however, and patients who have autoimm...
A 39-year-old man presented with progressive headache, nauseas, blurriness and cortical blindness. Blood pressure: 230x140 mmHg. Glasgow score: 15. Fundoscopy revealed hypertensive retinopathy and papille de ma. Neurological examination was normal. Brain ma gnetic resonance imaging revealed area of swelling and high signal on FLAIR-weighted images on the brainstem and cerebral white-matter abno...
Division of Child Neurology / Department of Neurology and Neurosurgery, Federal University of Sao Paulo, Sao Paulo SP, Brazil (UNIFESP-EPM): Resident, Department of Pediatrics, UNIFESP-EPM; Resident, Department of Radiology, Hospital Heliopolis, Sao Paulo SP, Brazil; Resident, Division of Child Neurology / Department of Neurology and Neurosurgery, UNIFESP-EPM; Associated Physician, Division of ...
OBJECTIVE To explore the phenotypic spectrum and pathophysiology of human disease deriving from mutations in the CNTNAP1 gene. METHODS In a field study on consanguineous Palestinian families, we identified 3 patients carrying homozygous mutations in the CNTNAP1 gene using whole-exome sequencing. An unrelated Irish family was detected by screening the GENESIS database for further CNTNAP1 mutat...
BACKGROUND KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in KARS have been reported to date. The associated clinical phenotype is heterogeneous ranging from early onset encephalopathy to isolated peripheral neuropathy or nonsyndromic h...
PURPOSE Methotrexate (MTX) can cause significant clinical neurotoxicity and asymptomatic leukoencephalopathy. We sought to identify clinical, pharmacokinetic, and genetic risk factors for these MTX-related toxicities during childhood acute lymphoblastic leukemia (ALL) therapy and provide data on safety of intrathecal and high-dose MTX rechallenge in patients with neurotoxicity. PATIENTS AND M...
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