Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neuropsychiatric lupus includes extremely diverse clinical manifestations, ranging from mild cognitive dysfunction to a severe, life-threatening presentation. We report a 28-year-old patient with systemic lupus erythematosus who had persistent fever for 3 months, and developed within a few hours motor and sensory aphasia, rotator nystagmus with deviation of the eyes, and severe nuchal rigidity. An extensive series of imaging and laboratory tests were interpreted as normal, except for an elevated opening pressure at lumbar puncture, cerebrospinal fluid inflammatory findings, and asymmetrical cortical perfusion on single-photon emission computed tomography. The patient received one course of high-dose intravenous immunoglobulin (IVIg) and within 5 days her condition returned to that of 3 months before admission. The mechanisms of injury, along with the management of cerebral lupus and the mechanisms of action of IVIg, are discussed.
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PMID:Successful treatment of systemic lupus erythematosus cerebritis with intravenous immunoglobulin. 1035 27

We report the case of a 24-year-old woman with systemic lupus erythematosus (SLE). The patient presented with cervical erythema and multiple arthralgia in December, 1996. Based on the high level of antinuclear antibody and the positivity for anti-double-stranded-DNA antibody, we diagnosed the patient as having SLE. Her symptoms improved and her condition was maintained following steroid treatment. In August 2000, the patient suddenly had headache, nausea, vertigo, cerebellar ataxia, fixation nystagmus, and intention tremor. She was negative for the anti-phospholipid antibody. The cerebrospinal fluid IgG index and the IL-6 level were high. MRI of the right cerebellar hemisphere showed an equal-signal-intensity region in the T 1-enhanced image, and a high-signal-intensity region with a diffuse undefined border in the T 2-enhanced image. The increased cerebral blood flow at the site corresponding to a cerebellar lesion detected by magnetic resonance imaging (MRI) was observed by brain single photon emission computed tomography (SPECT). The central nervous system (CNS) lupus was confirmed by the presence of a lesion in the cerebellum. The abnormalities detected in MRI and SPECT images of the brain disappeared immediately after the steroid pulse therapy, and symptoms such as ataxic gait were improved. This patient was diagnosed as having acute neuropsychiatric SLE with cerebellar symptoms that are rarely observed as a localized neural sign of SLE. The MRI and SPECT images suggested the presence of an inflammatory edematous lesion that was confined in the cerebellar hemisphere. This is considered to be due to the increase of vasopermeability.
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PMID:[A case with systemic lupus erythematosus presenting with reversible edematous lesion in cerebellum]. 1246 20

We previously reported the establishment of a rabbit (Oryctolagus cuniculus) model in which peptide immunization led to production of lupus-like autoantibodies including anti-Sm, -RNP, -SS-A, -SS-B, and -dsDNA characteristic of those produced in systemic lupus erythematosus (SLE) patients. Some neurologic symptoms in the form of seizures and nystagmus were observed. The animals used in the previous and in the current study were from a National Institute of Allergy and Infectious Diseases colony of rabbits that were pedigreed, Ig-allotype defined, but not inbred. Their genetic heterogeneity may correspond to that found among patients of a given ethnicity. We extended the information about this rabbit model by microarray-based expression profiling. We first demonstrated that human expression arrays could be used with rabbit RNA to yield information on molecular pathways. We then designed a study evaluating gene expression profiles in eight groups of control and treated rabbits (47 rabbits in total). Genes significantly upregulated in treated rabbits were associated with NK cytotoxicity, Ag presentation, leukocyte migration, cytokine activity, protein kinases, RNA spliceosomal ribonucleoproteins, intracellular signaling cascades, and glutamate receptor activity. These results link increased immune activation with upregulation of components associated with neurologic and anti-RNP responses, demonstrating the utility of the rabbit model to uncover biological pathways related to SLE-induced clinical symptoms, including neuropsychiatric lupus. Our finding of distinct gene expression patterns in rabbits that made anti-dsDNA compared with those that only made other anti-nuclear Abs should be further investigated in subsets of SLE patients with different autoantibody profiles.
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PMID:Gene expression profiles in a rabbit model of systemic lupus erythematosus autoantibody production. 2081 71

Cerebral venous thrombosis is a rare condition with various clinical presentations which may delay diagnosis. It is frequently associated with severe consequences. We present the first documented case of thrombosis of the great cerebral vein in a hemodialysis patient. A 29-year-old female patient with end-stage renal disease of unknown etiology was admitted to a hospital with altered consciousness and nausea. Severe headache in the right parietal area had started 2 days before. On examination, she was in the poor overall condition, dysartric, with a severe nystagmus. Urgent brain multislice computerized tomography and magnetic resonance imaging revealed thrombosis of the great cerebral vein with hypodense zones in hypothalamus, thalamus and basal ganglia. She was treated with heparin bolus of 25000 IU with a favorable outcome. Detailed examination demonstrated increased lupus anticoagulant (LA) 1 and LA2 and increased LA1/LA2. Control magnetic resonance imaging performed 1 year later revealed multiple vascular lesions within the brain. Acetylsalicylate was introduced in therapy. Thrombosis of the cerebral veins should be suspected in patients with end-stage renal disease, altered neurological status and signs of increased intracranial pressure.
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PMID:Thrombosis of the great cerebral vein in a hemodialysis patient. 2399 12