Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0494475 (tonic-clonic seizure)
 1,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Forty-three patients affected with Alzheimer's disease were identified in a kindred of Italian origin, emigrated in part to the U.S.A. and France. Thirteen were known by history, 21 by medical record, and 9 by personal examination, of whom 5 were confirmed histopathologically. The clinical picture was fairly uniform: the first symptom was memory loss beginning around age 40. Psychotic-like symptoms often followed, with rapid evolution into profound dementia, and death around age 50. Akinesia was prominent at a late stage, often with myoclonus. Grand mal seizures sometimes occurred, with occasional interictal spike and wave discharge; repetitive paroxystic periodic discharges were never recorded. A genealogical study, as far as possible free from line bias, has been conducted mainly by analysis of municipal records. 1 435 subjects in 10 generations, linked to affected subjects through ascent/descent or marriage, were listed in a computer file; the corresponding genealogical tree or selected part thereof are generated by computer. Application of Bayesian techniques to demographic data makes possible an estimation of disease probability in subjects for which no clinical data were available: such an estimate was confirmed by the later discovery of a living patient in descent of a subject with 0.7 estimated disease probability. No patient was found in descent from an inbred union known as such. Patients are the only transmitters. The sex ratio is not significantly different from 1. There is no detectable maternal effect. The segregation ratio, as calculated from extensively known sibships, lies in the range 0.65 to 0.89; the lower value itself is significatively higher than the 0.5 value expected in an autosomal dominant monogenic Mendelian transmission. An environment factor is ruled out by the diversity of locations and circumstances in kindred members. Such a kindred may represent an useful model for fundamental studies in Alzheimer's disease and senile dementia of the Alzheimer type.
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PMID:[Alzheimer's presenile dementia transmitted in an extended kindred]. 400 7

Although usually safe, retrobulbar anesthesia and peribulbar anesthesia have potentially sight- and life-threatening complications. Although it has been suggested that peribulbar anesthesia is as effective and safer than retrobulbar anesthesia, no large study has addressed the true rate of complications. To determine the efficacy and safety of peribulbar anesthesia, this study prospectively examined 16,224 consecutive peribulbar blocks. Twelve centers in the United States, Germany, and Chile participated in the study. After a peribulbar block was administered, the degree of akinesia, amaurosis, percentage of supplemental blocks required, and side effects and complications occurring after the block and for six weeks were recorded. Perioperative and late optic nerve complications were included. To approximate a real-life situation, ophthalmologists, anesthesiologists, and certified registered nurse anesthetists performed the blocks. Ninety-five percent of patients achieved a 95% or greater degree of akinesia. The incidence of complications in the consecutive cases was low. Orbital hemorrhage occurred in 12 cases (0.74%). There was one globe perforation (0.006%), two expulsive hemorrhages (0.013%), one grand mal seizure (0.006%), and no cases of cardiac or respiratory depression or deaths. Peribulbar is as effective as retrobulbar anesthesia and appears to lead to fewer sight- and life-threatening complications, even when slightly different peribulbar techniques are used. This is especially true when the anesthetic is administered with a 1 1/4-inch or shorter needle with the eye in the primary position, followed by ten to 15 minutes of ocular compression.
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PMID:Efficacy and complication rate of 16,224 consecutive peribulbar blocks. A prospective multicenter study. 772 98