Susac's Syndrome in a Patient Diagnosed with MS for 20 Years: A Case Report

Susac’s syndrome is an uncommon neurologic disorder of unknown cause. It has been described as a clinical triad of encephalopathy, hearing loss, and branch retinal artery occlusions. Clinically the diagnosis is difficult when the patient presents only a portion of a triad. We present a case with vision loss and sensorineural deafness and who had been diagnosed with MS for 20 years. Susac’s syndrome is presumed to be an autoimmune endotheliopathy. Neurologic symptoms and signs are diffuse and multifocal, acute or subacute in onset, and progress during the active phase of the disease. In some patients the onset was stroke like and in others that of subacute dementia. Headache, often with migrainous features, was a prominent feature initially in more than one half of the patients. A high index of suspicion leading to correct diagnosis and early appropriate therapy may reduce the permanent sequel seen with this disease. Misdiagnosis is common. In patients in whom diagnosis and treatment are delayed permanent morbidity is higher in terms of visual loss, hearing loss, and neurologic debility. In patients in whom rapid diagnosis has led to early administration of immunosuppressive therapy, recovery can be almost complete

Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients

Purpose To investigate the association between Apolipoprotein E (APOE), tumor suppressor protein p53 (p53), and cyclin-dependent kinase inhibitor 1A (p21) genes and primary open-angle glaucoma (POAG) in a cohort of Turkish subjects. Methods Seventy-five POAG patients (49 women, 26 men) and 119 healthy subjects (67 women, 52 men) were genotyped with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Allele and genotype frequencies between healthy subjects and glaucoma patients were compared by the χ2 test, and intraocular pressure (IOP), cup/disc ratio (C/D) and visual field indices (MD and PSD) were compared among different APOE, p53, and p21 genotypes in POAG group. A p value 0.05). POAG subjects with the ε2ε3 genotype had a worse PSD value (median=2.2) than those with the ε3ε4 genotype (median=1.77; p=0.01) and POAG subjects with the ε3ε3 genotype had worse MD and PSD values (median= -7.4 and 3.4, respectively) than those with the ε3ε4 genotype (median= -4.1 and 1.77, respectively; p=0.034 and 0.028, respectively). Conclusions Our study found no link between polymorphisms in APOE, p53, and p21 genes and POAG in Turkish patients, although a larger sample is required to elucidate the role of these polymorphisms in the pathogenesis and course of glaucoma

Restless Legs Syndrome as the Initial Presentation of Multiple Sclerosis

The restless legs syndrome (RLS) is a common central nervous system disorder. It is characterized by complaints of unpleasant sensation in the legs occurring during periods of leg inactivity which worsen or only occur in the evening or at night and relieved partially or totally by movement. The RLS may be idiopathic or due to secondary causes. It is associated with several pathological or physiological conditions. Iron metabolism and dysfunctions of the dopaminergic system are the most important factors in the pathophysiology. There are several studies suggesting multiple sclerosis as one of the causes of symptomatic RLS. Here, we report a case of RLS as the initial presentation of MS. The sudden onset of RLS symptoms in our patient suggested the possibility of an underlying cause. His diagnostic evaluation excluded other causes of RLS and his clinical course suggested that RLS was due to MS. MS with the spinal cord involvement is mostly associated with RLS, but any lesion in the hypothalamic-spinal connection may cause disinhibition of lower spinal levels, resulting in RLS. RLS as the initial presentation of MS reflects that the pathophysiology of RLS in MS is related to inflammatory demyelination rather than axonal degeneration

. DS-70, a novel and potent \uf0614 integrin antagonist, is an effective treatment for experimental allergic conjunctivitis in guinea pigs

BACKGROUND AND PURPOSE Allergic conjunctivitis is an eye inflammation that involves the infiltration of immune cells into the conjunctiva via cell surfaceadhesion receptors, such as integrin \u3b14\u3b21. These receptors interact with adhesion molecules expressed on the conjunctival endothelium and may be a target to treat this disease. We synthesized DS-70, a novel \u3b1/\u3b2-peptidomimetic \u3b14 integrin antagonist, to prevent the conjunctival infiltration of immune cells and clinical symptoms in a model of allergic conjunctivitis. EXPERIMENTAL APPROACH In vitro, DS-70 was pharmacologically characterized using a scintillation proximity procedure to measure its affinity for \u3b14\u3b21 integrin, and its effect on cell adhesion mediated by different integrins was also evaluated. The effects of DS-70 on vascular cell adhesion molecule-1 (VCAM-1)-mediated degranulation of a human mast cell line and an eosinophilic cell line, which both express \u3b14\u3b21, and on VCAM-1-mediated phosphorylation of ERK 1/2 in Jurkat E6.1 cells were investigated. Effects of DS-70 administered in the conjunctival fornix of ovalbumin-sensitized guinea pigs were evaluated. KEY RESULTS DS-70 bound to integrin \u3b14\u3b21 with nanomolar affinity, prevented the adhesion of \u3b14 integrin-expressing cells, antagonized VCAM-1- mediated degranulation of mast cells and eosinophils and ERK 1/2 phosphorylation. Only 20% was degraded after an 8 h incubation with serum. DS-70 dose-dependently reduced the clinical symptoms of allergic conjunctivitis, conjunctival \u3b14 integrin expression and conjunctival levels of chemokines and cytokines in ovalbumin-sensitized guinea pigs. CONCLUSIONS AND IMPLICATIONS These findings highlight the role of \u3b14 integrin in allergic conjunctivitis and suggest that DS-70 is a potential treatment for this condition