RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model.

Williams syndrome (WS) is a rare multisystemic disorder caused by recurrent microdeletions on 7q11.23, characterized by intellectual disability, distinctive craniofacial and dental features, and cardiovascular problems. Previous studies have explored the roles of individual genes within these microdeletions in contributing to WS phenotypes.

Responsive neurostimulation of thalamic nuclei for regional and multifocal drug-resistant epilepsy in children and young adults.

Objective: Responsive neurostimulation (RNS) is a US FDA-approved form of neuromodulation to treat patients with focal-onset drug-resistant epilepsy (DRE) who are ineligible for or whose condition is refractory to resection. However, the FDA approval only extends to use in patients with one or two epileptogenic foci. Recent literature has shown possible efficacy of thalamic RNS in patients with Lennox-Gastaut syndrome and multifocal epilepsy.

Responsive Neurostimulation for the Treatment of Children With Drug-Resistant Epilepsy in Tuberous Sclerosis Complex.

Background: To review seizure outcomes in children with tuberous sclerosis complex (TSC) and drug-resistant epilepsy (DRE) treated with the responsive neurostimulation (RNS) System.

Methods: We retrospectively reviewed children (<21 years old) with TSC implanted with the RNS System at Texas Children's Hospital between July 2016 and May 2022.

Results: Five patients meeting the search criteria were identified (all female).

Behavioral Improvements following Lesion Resection for Pediatric Epilepsy: Pediatric Psychosurgery?

Introduction: Resection of brain lesions associated with refractory epilepsy to achieve seizure control is well accepted. However, concurrent behavioral effects of these lesions such as changes in mood, personality, and cognition and the effects of surgery on behavior have not been well characterized. We describe 5 such children with epileptogenic lesions and significant behavioral abnormalities which improved after surgery.

Diagnosis and Management of Suspected Pediatric Autoimmune Encephalitis: A Comprehensive, Multidisciplinary Approach and Review of Literature.

Autoimmune encephalitis is an increasingly recognized entity in children. When treated promptly, favorable outcomes are seen in a majority of pediatric patients. However, recognition of autoimmune encephalitis in young patients is challenging.

Celiac Disease in Children: An Association With Drug-Resistant Epilepsy.

Background: Neurological manifestations are commonly reported in patients with celiac disease (CD). We aimed to characterize epilepsy features in a pediatric population with CD and the effect of a gluten-free diet (GFD) on seizure burden.

Methods: A retrospective chart review was performed on pediatric patients treated at the University of Utah and Primary Children's Hospital in Salt Lake City, Utah, with both epilepsy and CD and compared with a control group with epilepsy only.

Effects of the experimental subarachnoid hemorrhage on the eicosanoid receptors in nicotine-induced contraction of the rat basilar artery.

Background: Smoking is one of the most important risk factors for subarachnoid hemorrhage (SAH). The purpose of this study was to investigate the influence of experimental SAH and arachidonic acid metabolites on nicotine-induced contraction in the rat basilar artery.

Methods: Rats were killed at 1 hour and 1 week after SAH, and the basilar artery was isolated and cut into a spiral strip.

Influence of experimental subarachnoid hemorrhage on nicotine-induced contraction of the rat basilar artery in relation to arachidonic acid metabolites signaling pathway.

Background: Smoking is one of the most important risk factors for cerebral circulatory disorders. The purpose of this study was to investigate the influence of experimental subarachnoid hemorrhage (SAH) on nicotine-induced contraction (arachidonic acid metabolites) in the basilar arteries of rats.

Methods: Rats were killed at 1 hour and 1 week after blood injection, and the basilar artery was isolated and cut into a spiral strip.

Influence of experimental subarachnoid hemorrhage on nicotine-induced contraction of the rat basilar artery in relation to nicotinic acetylcholine receptors, calcium, and potassium channels.

Background: Cigarette smoking is associated with symptomatic vasospasm after subarachnoid hemorrhage (SAH).

Methods: Rat basilar arteries of a normal group and SAH groups (1 hour, 2 days, and 1 week) were removed from the brain and cut into spiral preparations.

Results: A central nervous system (CNS) nicotinic acetylcholine receptor (nAChR) and autonomic ganglionic nAChR antagonist (mecamylamine) and skeletal muscle nAChR antagonist (gallamine) concentration-dependently attenuated the nicotine-induced contraction.

Pharmacological nature of nicotine-induced contraction in the rat basilar artery: involvement of arachidonic acid metabolites.

The pharmacological nature of nicotine-induced contraction in the rat basilar artery is poorly understood. The purpose of this study was to investigate the endothelium dependency and involvement of arachidonic acid metabolites in nicotine-induced contraction in the rat basilar artery. The rat basilar artery was removed from the brain and cut into a spiral preparation.

Hypersensitivity to hydroxyl radicals in rat basilar artery after subarachnoid hemorrhage.

Vasospasm after subarachnoid hemorrhage (SAH) is a serious complication and we have been investigating the relationship between vasoconstrictors and vasospasm after SAH. The present study was designed to investigate the vasocontractile responses to reactive oxygen species in isolated rat basilar arteries from the control and experimental SAH rats. Contractile responses to hydroxyl radicals in basilar arteries from SAH rats were 3-6-fold higher than those in control rats.

Cysteinyl leukotrienes and leukotriene B mediate vasoconstriction to arginine vasopressin in rat basilar artery.

Arginine vasopressin (AVP) has been reported to be involved in the development of cerebral vasospasm after haemorrhage and cerebral oedema following ischaemia. Endogenously produced 5-lipoxygenase metabolites are able to contract isolated endothelium-preserved arterial strips and modulate vascular permeability. The present study addresses the role of 5-lipoxygenase and its products, namely cysteinyl leukotrienes (CysLTs) and leukotriene (LT) B4, in the contraction induced by AVP in rat basilar artery.

Involvement of endothelial cyclo-oxygenase metabolites in noradrenaline-induced contraction of rat coronary artery.

1. Noradrenaline (NA; 0.3 micromol/L) caused a contraction of the rat coronary artery that markedly increased in the presence of the nitric oxide synthase (NOS) inhibitor N(G)-nitro-l-arginine methyl ester (L-NAME; 100 micromol/L) and arachidonic acid (1 micromol/L; P < 0.

Enhanced reactivity to vasopressin in rat basilar arteries during vasospasm after subarachnoid hemorrhage.

Subarachnoid hemorrhage increases the plasma level of vasopressin, a well-known vasoconstrictor. We examined the sensitivity to vasopressin in rat basilar artery after subarachnoid hemorrhage using a rat subarachnoid hemorrhage model. Vasospasm was observed 1-2 days after subarachnoid hemorrhage induction, and the contractile response to vasopressin in rat basilar arteries was assessed.

Participation of vasopressin in the development of cerebral vasospasm in a rat model of subarachnoid haemorrhage.

1. Previous studies have suggested the involvement of arginine vasopressin (AVP) and inflammation in the development of cerebral vasospasm after subarachnoid haemorrhage (SAH). The aim of the present study was to clarify the role of AVP in the arterial narrowing following cerebral haemorrhage by examining the effect of SR 49059 (a V(1) receptor antagonist) on the diameter of rat basilar artery exposed to SAH.

Diversity of endothelium-derived vasocontracting factors--arachidonic acid metabolites.

Vascular endothelium releases vasocontracting and/or vasorelaxing substances. Here, we report the diversity of endothelium-derived vasocontracting factors (EDCFs), arachidonic acid metabolites, and discuss the pathophysiological significance. In the canine basilar artery and the rabbit intrapulmonary artery, acetylcholine-induced contractions (ACh-induced EDC) are due to endothelial thromboxane A2 (TXA2) (TXA2-type).