Mouse Chromosome 11

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/46996/1/335_2004_Article_BF00648429.pd

La finestra sclerale nella sclerectomia profonda. [Scleral window in deep sclerectomy]

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Interpretation of SEEG recordings

International audienceThe interpretation of SEEG recordings is a crucial step. It must be carried out by an epileptologist/neurophysiologist with sufficient training and qualification in this field. The objectives of the interpretation are to define the brain topography of interictal activities (irritative zone) and the epileptogenic zone, defined as the site of primary organization of ictal discharges. Several patterns of seizure onset are possible, the most typical including fast discharges. The interpretation of the SEEG is based on the recording of spontaneous activity but also on the results of intracerebral electrical stimulation. It must be done with accurate anatomical information on the location of the electrodes in terms of the patient's anatomy. Quantification of interictal activities (spikes, high frequency oscillations) and ictal activity (epileptogenicity index) is recommended. The interpretation of the SEEG must also take into account functional data and will be the basis for the final decision on the operability and type of intervention chosen

Interpretation of SEEG recordings

International audienceThe interpretation of SEEG recordings is a crucial step. It must be carried out by an epileptologist/neurophysiologist with sufficient training and qualification in this field. The objectives of the interpretation are to define the brain topography of interictal activities (irritative zone) and the epileptogenic zone, defined as the site of primary organization of ictal discharges. Several patterns of seizure onset are possible, the most typical including fast discharges. The interpretation of the SEEG is based on the recording of spontaneous activity but also on the results of intracerebral electrical stimulation. It must be done with accurate anatomical information on the location of the electrodes in terms of the patient's anatomy. Quantification of interictal activities (spikes, high frequency oscillations) and ictal activity (epileptogenicity index) is recommended. The interpretation of the SEEG must also take into account functional data and will be the basis for the final decision on the operability and type of intervention chosen

Amyotrophic lateral sclerosis with mutation of the Cu/Zn superoxide dismutase gene (SOD1) in a patient with Down syndrome

Familial amyotrophic lateral sclerosis can be related to mutations in the Cu/Zn superoxide dismutase gene (SOD1) located on chromosome 21q22.1. This is the first report of a SOD1 mutation in a patient with Down syndrome. A 34-year-old woman with Down syndrome developed a lower motor neuron disease that led to death in two years. Autopsy findings confirmed the diagnosis. DNA examination identified a missense mutation at nucleotide 134 of exon 5 of the SOD1 gene resulting in the aminoacid substitution serine-134-asparagine (S134N). A real time PCR detected the mutation in two out of three alleles. The 70-year-old mother of the patient carries the same mutation but has not yet developed the disease. The missense mutation of SOD1 gene in two of the three alleles could have increased its toxic effects in the Down syndrome patient leading to an earlier onset and rapid progression of the disease. \uc2\ua9 2007 Elsevier B.V. All rights reserved

Cigarette smoking and treatment outcomes in Graves' ophthalmopathy

Background: It is unclear whether smoking affects the course of Graves ophthalmopathy and therapeutic outcomes. Objective: To observe smoking behavior in a randomized study of the effect of radioiodine therapy on ophthalmopathy and in a case series of patients with Graves ophthalmopathy receiving orbital radiation therapy and glucocorticoids. Design: Randomized, single-blind study of smoking and mild ophthalmopathy after radioiodine therapy (study 1) and a retrospective cohort study of the association between smoking and response of severe ophthalmopathy to treatment (study 2). Setting: University medical center. Patients: 300 patients with mild ophthalmopathy (study 1) and 150 patients with severe ophthalmopathy (study 2). Intervention: In study 1, patients received radioiodine alone or radioiodine and a 3-month course of oral prednisone (initial dosage, 0.4 to 0.5 mg/kg of body weight per day). In study 2, patients received high-dose oral prednisone for 6 months (initial dosage, 80 to 100 mg/d) and underwent orbital radiation therapy by linear accelerator (cumulative dose, 20 Gy per eye over 2 weeks). Measurements: Degree of ophthalmopathy was assessed by overall evaluation (inflammatory changes, proptosis, extraocular muscle dysfunction, corneal involvement, and optic neuropathy). Results: In study 1, ophthalmopathy progressed in 4 of 68 nonsmokers (5.9% [95% CI, 3% to 9%]) and 19 of 82 smokers (23.2% [CI, 13% to 33%]) who received radioiodine alone (P = 0.007). Ophthalmopathy was alleviated in 37 of 58 nonsmokers (63.8% [CI, 51% to 78%]) and 13 of 87 smokers (14.9% [CI, 10% to 26%]) who received radioiodine plus prednisone (P< 0.001). In study 2, 61 of 65 nonsmokers (93.8% [CI, 90% to 98%]) and 58 of 85 smokers (68.2% [CI, 57% to 78%]) responded to treatment (P < 0.001). Conclusions: Cigarette smoking increases the risk for progression of ophthalmopathy after radioiodine therapy and decreases the efficacy of orbital radiation therapy and glucocorticoid therapy

Relation between therapy for hyperthyroidism and the course of Graves' ophthalmopathy

Background: The chief clinical characteristics of Graves' disease are hyperthyroidism and ophthalmopathy. The relation between the two and the effect of treatment for hyperthyroidism on ophthalmopathy are unclear. Methods: We studied 443 patients with Graves' hyperthyroidism and slight or no ophthalmopathy who were randomly assigned to receive radioiodine, radioiodine followed by a 3-month course of prednisone, or methimazole for 18 months. The patients were evaluated for changes in the function and appearance of the thyroid and progression of ophthalmopathy at intervals of 1 to 2 months for 12 months. Hypothyroidism and persistent hyperthyroidism were promptly corrected. Results: Among me 150 patients treated with radioiodine, ophthalmopathy developed or worsened in 23 (15 percent) two to six months after treatment. The change was transient in 15 patients, but it persisted in 8 (5 percent), who subsequently required treatment for their eye disease. None of the 55 other patients in this group who had ophthalmopathy at base line had improvement in their eye disease. Among the 145 patients treated with radioiodine and prednisone, 50 (67 percent) of the 75 with ophthalmopathy at base line had improvement, and no patient had progression. The effects of radioiodine on thyroid function were similar in these two groups. Among the 148 patients treated with methimazole, 3 (2 percent) who had ophthalmopathy at base line improved, 4 (3 percent) had worsening of eye disease, and the remaining 141 had no change. Conclusions: Radioiodine therapy for Graves' hyperthyroidism is followed by the appearance or worsening of ophthalmopathy more often than is therapy with methimazole. Worsening of ophthalmopathy after radioiodine therapy is often transient and can be prevented by the administration of prednisone