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A novel BCHE frameshift mutation in a Chinese woman with butyrylcholinesterase deficiency: A case report and literature review.
Medicine (Baltimore)
October 2024
Department of Cardiovascular, People's Hospital of Changshou Chongqing, Chongqing, China.
Rationale: Congenital butyrylcholinesterase deficiency (BCHED) is a rare autosomal recessive genetic disorder caused by a pathogenic mutation in the BCHE gene. Patients with BCHED may experience prolonged apnea or even death after the application of drugs such as succinylcholine. We aimed to identify the genetic basis of disease in a patient presenting with butyrylcholinesterase deficiency in order to confirm the diagnosis, expand BCHE gene mutation spectrum, and elucidate potential genotype-phenotype associations to inform management.
View Article and Find Full Text PDFSuspected Pseudocholinesterase Deficiency During Left Thyroid Lobectomy and Isthmusectomy: A Case Report.
S D Med
June 2024
Avera Sacred Heart Hospital, Yankton, South Dakota.
Background: Pseudocholinesterase (butyrylcholinesterase) deficiency is an acquired or inherited condition in which decreased plasma levels of the pseudocholinesterase enzyme lead to an inability to metabolize the neuromuscular blocking agents succinylcholine and mivacurium, prolonging their paralytic effects. This often results in delayed extubation and additional intensive care requirements in the postoperative period.
Case Description: We describe a case of suspected pseudocholinesterase deficiency in a previously healthy 59-year-old female who underwent a left thyroid lobectomy and isthmusectomy.
Quantitative Neuromuscular Monitoring Permits Early Diagnosis of Abnormal Butyrylcholinestrase: Two Case Studies Demonstrating Prevention of Awareness from Premature Awakening.
AANA J
April 2024
is a Professor, Department of Anesthesiology, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
Administration of succinylcholine to patients with a variant in the butyrylcholinesterase (BChE) gene increases the risk of anesthesia emergence prior to recovery from neuromuscular blockade (NMB). Application of quantitative neuromuscular monitoring (NMM) can identify residual NMB. We present two patients with abnormal BChE gene variants.
View Article and Find Full Text PDFThe First-Known Case of Hereditary Heterozygous Butyrylcholinesterase Deficiency in a Patient on Dialysis.
Cureus
January 2024
Kidney Disease, Kawashima Hospital, Tokushima, JPN.
Serum levels of butyrylcholinesterase (BChE) are commonly used to assess liver function. Its levels have been reported to be significantly lower in patients undergoing dialysis. To the best of our knowledge, this is the first report of hereditary heterozygous BChE deficiency in a patient undergoing dialysis.
View Article and Find Full Text PDFDelayed diagnosis of butyrylcholinesterase deficiency with insufficient neuromuscular monitoring and a confounding effect of SedLine® brain function monitoring: a case report.
BJA Open
September 2022
Department of Anesthesiology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA.
Intraoperative monitoring has always been a vital part of the care of an anaesthetised patient. Neuromuscular monitoring is important to use when patients have received neuromuscular blocking agents. Quantitative neuromuscular monitors are preferred over qualitative monitors and clinical judgement alone in reducing residual neuromuscular block and the associated respiratory complications.
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