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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 PDFGulf war illness: a tale of two genomes.
BMC Res Notes
August 2024
Department of Medicine, University of California, San Diego, La Jolla, 92093, CA, U.S.A.
Introduction: Gulf War illness (GWI) is an environmentally-triggered chronic multisymptom illness typified by protean symptoms, in which mitochondrial impairment is evident. It has been likened to accelerated aging. Nuclear genetics of detoxification have been linked to GWI.
View Article and Find Full Text PDFOnset of Alzheimer disease in apolipoprotein ɛ4 carriers is earlier in butyrylcholinesterase K variant carriers.
BMC Neurol
April 2024
Dementia Research Centre, Institute of Neurology, London, UK.
Background: The authors sought to examine the impact of the K-variant of butyrylcholinesterase (BCHE-K) carrier status on age-at-diagnosis of Alzheimer disease (AD) in APOE4 carriers.
Methods: Patients aged 50-74 years with cerebrospinal fluid (CSF) biomarker-confirmed AD, were recruited to clinical trial (NCT03186989 since June 14, 2017). Baseline demographics, disease characteristics, and biomarkers were evaluated in 45 patients according to BCHE-K and APOE4 allelic status in this post-hoc study.
Emerging significance of butyrylcholinesterase.
World J Exp Med
March 2024
Department of Internal Medicine, Gayatri Vidya Parishad Institute of Healthcare and Medical Technology, Visakhapatnam 530048, Andhra Pradesh, India.
Butyrylcholinesterase (BChE; EC 3.1.1.
View Article and Find Full Text PDFQuantitative 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.
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