Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 5-year-old boy with Williams syndrome received open reduction of fracture of the antebrachium twice. He had been diagnosed as having Williams syndrome with some characteristic symptoms, including elfin face, mental retardation and primary pulmonary hypertension. Williams syndrome has a tetrad of cardiovascular disease, elfin face, mental retardation and hypercalcemia. Operations were performed twice under general anesthesia. Airway management with mask technique was easily performed. Tracheal intubation was accomplished successfully. Anesthesia was induced with propofol, fentanyl, and vecuronium, and maintained with propofol, fentanyl and the inhalation of oxygen with nitrous oxide. Both anesthetic courses were uneventful and he was discharged without any complications. Special anesthetic considerations should be taken for difficulties of intubation, management of circulatory system, malignant hyperthermia, and hypercalcemia in this syndrome.
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PMID:[Two occasions of anesthetic management for a patient with Williams syndrome]. 1367 82

The implications of genetics and genomics for critical care nurses are becoming more evident, not only in the care provided but also in the numerous medications administered. Genetic causes are being discovered for an increasing number of chronic illnesses and diseases, such as Huntington disease. Because of the scientific and pharmacological advances, leading nursing organizations, such as the American Nurses Association, have established competencies in genetic knowledge for nurses. Such competencies help ensure quality care. Recent advances in the pharmacogenomics of therapy for human immunodeficiency virus disease, cancer, cardiovascular disease, and malignant hyperthermia have indicated a genetic linkage; therefore treatments are targeted toward the genetic aspect of the abnormality. Critical care nurses need knowledge of these genetic conditions and of medications affected by genetic factors.
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PMID:Essential nursing competencies for genetics and genomics: implications for critical care. 2196 89