ABSTRACT
Susac's Syndrome (SS), which was first described in 1979, is a rare and presumably autoimmune disorder characterized by encephalopathy, hearing loss, and visual disturbance resulting from branch retinal artery occlusion (BRAO). This study reports 19 SS patients' clinical characteristics, MRI features, CSF analysis, treatment strategies and outcomes. At initial presentation, only three of 19 patients demonstrated the complete clinical triad. Clinic presentation varied from isolated hemiparesis to the full triad (encephalopathy, hearing loss and visual disturbances). Corpus callosum (CC) involvement was noted in the MRI of 18 patients (97%) and BRAO was detected in 17 (95%) patients. All patients were treated with intravenous methylprednisolone after the initial assessment. This case series is presented to emphasize the differences in clinical presentation of SS and the importance of MRI and FFA in diagnosis.
Subject(s)
Susac Syndrome/diagnosis , Susac Syndrome/drug therapy , Susac Syndrome/pathology , Adult , Aged , Anti-Inflammatory Agents/therapeutic use , Female , Fluorescein Angiography/methods , Humans , Magnetic Resonance Imaging/methods , Male , Methylprednisolone/therapeutic use , Middle Aged , Retrospective Studies , Young AdultABSTRACT
OBJECTIVES: Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) and B cell-activating factor (BAFF), the members of tumor necrosis factor superfamily, play essential roles in immune homeostasis and may have potential contributions to the autoimmune process in multiple sclerosis (MS). MATERIAL AND METHODS: Thirty-five relapsing remitting MS (RRMS) patients and 19 healthy individuals were enrolled in the study. The expression of TRAIL on peripheral blood lymphocytes was analyzed by flow cytometry. The serum levels of soluble TRAIL (sTRAIL) and soluble BAFF (sBAFF) were determined by ELISA. Further, we evaluated the effect of IFN-ß on sTRAIL, sBAFF levels and on TRAIL surface expression in these patients on the third and sixth months following the treatment. RESULTS AND CONCLUSION: These preliminary results signify that MS patients are heterogenous in TRAIL expression. Additionally, during the IFN-ß treatment, the soluble form of TRAIL increases concomitantly as its surface expression decreases on lymphocytes. The basal sBAFF levels of patients were significantly higher than the control group and no significant change was observed. Thus, the changes in TRAIL expression may be a potential parameter indicating the response to IFN-ß1 therapy at individual level.
Subject(s)
B-Cell Activating Factor/blood , Immunologic Factors/therapeutic use , Interferon-beta/therapeutic use , Lymphocytes/drug effects , Multiple Sclerosis/metabolism , TNF-Related Apoptosis-Inducing Ligand/blood , Adolescent , Adult , Case-Control Studies , Enzyme-Linked Immunosorbent Assay/methods , Female , Flow Cytometry , Follow-Up Studies , Gene Expression Regulation/drug effects , Humans , Lymphocytes/metabolism , Male , Middle Aged , Multiple Sclerosis/drug therapy , Multiple Sclerosis/pathology , Severity of Illness Index , Time Factors , Young AdultABSTRACT
BACKGROUND AND PURPOSE: Myelin instability and citrullinated myelin basic protein have been demonstrated in the brains of patients with chronic and fulminating forms of multiple sclerosis (MS). Our aim was to trace citrulline in the brains of patients with early-onset MS by using proton MR spectroscopy ((1)H-MR spectroscopy). MATERIALS AND METHODS: A short-echo single-voxel (1)H-MR spectroscopy by using the point-resolved proton spectroscopy sequence was performed in 27 patients with MS and 23 healthy subjects. Voxels of interest were chronic demyelinating lesions (CDLs, n = 25) and normal-appearing white matter (NAWM, n = 25) on T2-weighted imaging, and when available in patients with MS, enhancing demyelinating lesions (EDLs, n = 8). Frontal white matter (WM) was studied in control subjects. N-acetylaspartate, choline, and myo-inositol (mIns)-creatine (Cr) ratios and the presence of a citrulline peak were noted. RESULTS: Citrulline peaks were more frequently observed in patients with MS than in control subjects (P = .035), located in the NAWM in 8/25 (32%), in CDLs in 7/25 (28%), and in EDLs of 1/8 (12.5%) patients with MS. The presence of citrulline and measured metabolite/Cr ratios was not related to age at imaging, age at disease onset, duration of disease, or number of relapses. There was no significant metabolic difference between the NAWM of patients with MS and the WM of the control subjects. mIns/Cr was significantly greater in CDLs compared with the NAWM of patients with MS and the WM of healthy subjects. CONCLUSIONS: Citrulline was more frequently identified in the brains of patients with early-onset MS than in healthy subjects by (1)H-MR spectroscopy, suggesting an association of increased citrullination of myelin proteins with demyelinating diseases.
Subject(s)
Citrulline/metabolism , Magnetic Resonance Spectroscopy/methods , Multiple Sclerosis, Relapsing-Remitting/diagnosis , Multiple Sclerosis, Relapsing-Remitting/metabolism , Myelin Basic Protein/metabolism , Myelin Sheath/metabolism , Adolescent , Age of Onset , Aspartic Acid/analogs & derivatives , Aspartic Acid/metabolism , Child , Child, Preschool , Choline/metabolism , Creatine/metabolism , Demyelinating Diseases/diagnosis , Demyelinating Diseases/metabolism , Female , Humans , Inositol/metabolism , Male , Protons , Young AdultSubject(s)
Encephalitis , Receptors, N-Methyl-D-Aspartate/immunology , Seminoma/complications , Seminoma/pathology , Teratoma/pathology , Testicular Neoplasms/pathology , Adult , Amygdala/immunology , Amygdala/pathology , Anti-Inflammatory Agents/therapeutic use , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Brain Neoplasms/immunology , Brain Neoplasms/pathology , Brain Neoplasms/therapy , Combined Modality Therapy , Encephalitis/immunology , Encephalitis/pathology , Encephalitis/therapy , Humans , Immunohistochemistry , Male , Methylprednisolone/therapeutic use , Paraneoplastic Syndromes/pathology , Paraneoplastic Syndromes/therapyABSTRACT
Nitric oxide was studied to investigate its possible involvement in the promotion of breast carcinoma: both the development of the primary tumour and the process of metastasis seem to be influenced by the presence and the amount of nitric oxide. We review the available literature on this topic, which seems to suggest an influence of nitric oxide on the cancer cell biology in breast carcinoma, but the argument is still controversial. More studies are needed to clarify the sequence of events and the real impact of nitric oxide on the behaviour of the disease.
Subject(s)
Breast Neoplasms/metabolism , Nitric Oxide/metabolism , Breast Neoplasms/pathology , Female , Humans , Neoplasm MetastasisABSTRACT
Paraneoplastic syndromes are the rarest neurological complications in patients with cancer. The neurological paraneoplastic syndromes that are mainly associated with breast cancer are subacute cerebellar degeneration, paraneoplastic retinopathy, opsoclonus-myoclonus syndrome, lower motor neuron diseases and Stiff-man syndrome. The aim of this paper is to briefly outline these paraneoplastic neurological syndromes and consider their relation to breast carcinoma.
