Publications by authors named "Yazhen Yu"

Article Synopsis
  • - Microtubule affinity-regulating kinase 2 (MARK2) is crucial for neurons to develop properly, and variants in MARK2 have been linked to autism spectrum disorder (ASD) and other neurodevelopmental issues, with most being loss-of-function mutations.
  • - A study analyzed 31 individuals with MARK2 variants showing ASD along with unique facial features, finding that the loss of MARK2 disrupts early neuron development and leads to abnormal growth patterns in neural cells.
  • - Research using iPSC models and MARK2-deficient mice highlighted the link between MARK2 loss and issues in neuronal function, connecting it to the reduction of the WNT/β-catenin signaling pathway, while suggesting lithium as a potential treatment
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Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder characterized by recurrent involuntary movements usually triggered by sudden movements. Mutations in the gene were found to be the causative factor of PKD in recent studies. It has also been revealed that loss-of-function is the mechanism by which mutations cause PKD.

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Study Objective: Intraoperative systemic lidocaine has become widely accepted as an adjunct to general anesthesia, associated with opioid-sparing and enhanced recovery. We hypothesized that perioperative systemic lidocaine improves postoperative pain and enhances the quality of recovery (QoR) in patients following video-assisted thoracic surgery (VATS).

Design: Prospective, single-center, double-blind, randomized placebo-controlled clinical trial.

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Temporal lobe epilepsy is the most common form of epilepsy. However, for this type of condition, antiseizure medication is not effective for children. As miRNAs are involved in the development of temporal lobe epilepsy in children, they may provide potential therapeutic approaches for treatment.

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Objective: This study aims to describe the associations between genetic polymorphisms and therapeutic effect of valproic acid (VPA) in children with focal seizures.

Methods: Eighty-nine children with focal seizures on VPA therapy were enrolled. Patients' basic information, dosage regimens, and plasma concentrations were recorded.

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Purpose: This study aims to evaluate the associations between genetic polymorphisms and the effect of sodium valproate (VPA) therapy in children with generalized seizures.

Methods: A total of 174 children with generalized seizures on VPA therapy were enrolled. Steady-state trough plasma concentrations of VPA were analyzed.

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Purpose: Valproic acid (VPA) is an important drug in seizure control with great inter-individual differences in metabolism and treatment effect. This study aims to identify the effects of genetic variants on VPA clearance in a population pharmacokinetic (popPK) model in children with epilepsy.

Methods: A total of 325 VPA plasma concentrations from 290 children with epilepsy were used to develop the popPK model by using the nonlinear mixed-effects modeling method.

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Purpose: The aim of the study is to evaluate the association between genetic polymorphisms and valproic acid (VPA) concentration to dose ratio in children with epilepsy on VPA monotherapy.

Methods: A total of 137 children, aged 3.5-18 years, (89 males and 48 females) with epilepsy on sustained-release VPA monotherapy were enrolled.

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Background: Valproic acid (VPA) is a widely used antiepileptic drug with acceptable safety and efficacy in treating pediatric patients with various kinds of seizures. However, interindividual variations in plasma concentrations and treatment effects of patients with epilepsy treated with VPA are observed. This study aimed to evaluate the effects of various genetic variations on normalized plasma concentration of VPA (NCVPA) and the treatment response in Chinese children with epilepsy administered with VPA.

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There are scarce reports of childhood stroke from China. Our objective was to describe the clinical spectrum, risk factors, and imaging characteristics of childhood stroke in China. Using a hospital discharge database, children with stroke who were first admitted from 2002 to 2011 were retrospectively enrolled.

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Mollaret meningitis, a benign recurrent aseptic disease, is known to be associated with intracranial epidermoid cysts. In this report, we describe a case of Mollaret meningitis caused by an intraspinal epidermoid cyst located at thoracic level 12. The patient's clinical manifestations and cerebrospinal fluid features were similar to those with bacterial meningitis characterized by predominant polymorphonuclear leukocytes.

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