Anesthetic management of a patient with 15q tetrasomy for dental treatment.

CONCLUSIONS: Appropriate planning for the prevention of complications such as seizures and hypotonia, and for delayed emergence from anesthesia, is required. Specifically, choosing short-acting drugs that do not induce seizures, together with suitable monitoring, resulted in successful anesthetic management of the patient with 15q tetrasomy. PMID: 28549523 [PubMed - as supplied by publisher]
Source: Revista Brasileira de Anestesiologia - Category: Anesthesiology Tags: Rev Bras Anestesiol Source Type: research

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Mutations in the elongation factor 1 alpha 2 (EEF1A2) gene have been recently shown to cause epileptic encephalopathy (MIM # 616409 EIEE33) associated with neurodevelopmental disorders such as intellectual disability, autistic spectrum disorder, hypotonia and dysmorphic facial features. EEF1A2 protein is involved in protein synthesis, suppression of apoptosis, regulation of actin function and cytoskeletal structure. To date, only sixteen patients with EEF1A2 mutations have been reported.
Source: Brain and Development - Category: Neurology Authors: Tags: Case Report Source Type: research
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Source: Orvosi Hetilap - Category: General Medicine Authors: Tags: Orv Hetil Source Type: research
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Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
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Source: Journal of Health Care for the Poor and Underserved - Category: International Medicine & Public Health Authors: Tags: J Health Care Poor Underserved Source Type: research
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This article is protected by copyright. All rights reserved. PMID: 31392718 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
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Source: The Lancet Psychiatry - Category: Psychiatry Source Type: research
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