Mutations in DOK7 have recently been shown to underlie a recessive congenital myasthenic syndrome (CMS) associated with small simplified neuromuscular junctions ('synaptopathy') but normal acetylcholine receptor and acetylcholinesterase function. We identified DOK7 mutations in 27 patients from 24 kinships. Mutation 1124_1127dupTGCC was common, present in 20 out of 24 kinships. All patients wer...

BACKGROUND Epidemiological research has observed that workers with exposure to anticholinesterase pesticides, and particularly those with a history of acute overexposure, may be at increased risk of depression. However, there is little published research about the risk of suicide in relation to pesticide exposure. AIMS To investigate risk of suicide in relation to metrics of pesticide exposur...

In this study, the in vitro anticholinesterase activity of the volatile oils of both O. basilicum and O. africanum was investigated and both samples showed significant activity. The major constituents of the two oils were isolated using several column chromatographies. Linalool, 1,8-cineol and eugenol were isolated from the volatile oil of O. basilicum and camphor was isolated from the volatile...

Organophosphate and carbamate insecticides are widely detected in surface waters of the western United States. These chemicals interfere with acetylcholine-mediated synaptic transmission in the nervous systems of fish and other aquatic animals via the inhibition of AChE (acetylcholinesterase) enzyme activity. Anticholinesterase insecticides commonly co-occur in the environment. This raises the ...

In vitro preparations of whole urinary bladders of neonatal rats exhibit prominent myogenic spontaneous contractions, the amplitude and frequency of which can be increased by muscarinic agonists. The muscarinic receptor subtype responsible for this facilitation was examined in the present experiments. Basal spontaneous contractions in bladders from 1- to 2-wk-old Sprague-Dawley rats were not af...

We report a severe case of congenital myasthenia gravis in a Chinese newborn who presented with complete ptosis, severe hypotonia, dysphagia and respiratory insufficiency with recurrent apnea that required mechanical ventilatory support since birth. Routine neurophysiologic studies, including the 3-Hz repetitive stimulation test and electromyogram were normal. Neostigmine and edrophonium tests ...

During normal development presumptive synaptic sites in the myotomes of Xenopus laevis begin to acquire a high density of ACh receptors within as little as 2 h after the arrival of the nerve fibres. Synaptic function also begins very shortly after the arrival of the nerve fibres. Initially synaptic currents are some eight times longer lasting than at maturity and are not prolonged by anticholin...

Organophosphate (OP) compounds are present in household and agricultural pesticides as well as in nerve agents. The toxic effects of these chemicals result from their anticholinesterase activity, which disrupts nerve junctions and parasympathetic effector sites, leading to a variety of symptoms and possible death. When the anticholinesterase agents in OP compounds reach the neuromuscular juncti...

BACKGROUND Polygonum minus Huds.is a culinary flavouring that is common in South East Asian cuisine and as a remedy for diverse maladies ranging from indigestion to poor eyesight. The leaves of this herb have been reported to be high in antioxidants. Flavonoids which have been associated with memory, cognition and protection against neurodegeneration were found in P. minus. METHOD This study ...